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
KAT8	84148	broad.mit.edu	37	16	31131792	31131792	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:31131792G>A	ENST00000543774.2	+	4	754	c.419G>A	c.(418-420)cGc>cAc	p.R140H	KAT8_ENST00000219797.4_Missense_Mutation_p.R140H|KAT8_ENST00000448516.2_Missense_Mutation_p.R140H			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	140					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R140H(2)									AAGATCACTCGCAACCAAAAG	0.572000													61	94					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750855	140750855	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:140750855G>A	ENST00000576222.1	+	1	1025	c.894G>A	c.(892-894)acG>acA	p.T298T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTAAAACGGGGGAACTCA	0.453000													187	339					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967494	46967494	+	Missense_Mutation	SNP	G	G	A	rs150256507	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:46967494G>A	ENST00000374323.4	-	3	1329	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SYT15_ENST00000503753.1_Missense_Mutation_p.R195C|SYT15_ENST00000374325.3_Missense_Mutation_p.R195C|SYT15_ENST00000374321.4_Missense_Mutation_p.R195C			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGAGGAAGCGCCGCTCATCG	0.607000													75	365					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631650	116631650	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr8:116631650C>T	ENST00000395715.3	-	3	1252	c.675G>A	c.(673-675)ccG>ccA	p.P225P	TRPS1_ENST00000519076.1_Silent_p.P166P|TRPS1_ENST00000520276.1_Silent_p.P216P|TRPS1_ENST00000519674.1_Silent_p.P212P|TRPS1_ENST00000220888.5_Silent_p.P212P	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	212					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAGGTGCCGGGTCTGGGT	0.463000									Langer-Giedion syndrome				186	474					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110927479	110927479	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:110927479C>A	ENST00000316534.4	-	5	499	c.426G>T	c.(424-426)gaG>gaT	p.E142D	NPHP1_ENST00000355301.4_Missense_Mutation_p.E80D|NPHP1_ENST00000393272.3_Missense_Mutation_p.E142D|NPHP1_ENST00000445609.2_Missense_Mutation_p.E142D|NPHP1_ENST00000417665.1_Missense_Mutation_p.E142D			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	142	Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						tttcctctttctcttcctctt	0.438000													61	70					1.45723e-30	1.62569e-30	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43262298	43262298	+	Silent	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:43262298C>A	ENST00000255226.6	+	20	3393	c.2577C>A	c.(2575-2577)ccC>ccA	p.P859P	SLC14A2_ENST00000589658.1_Silent_p.P336P|SLC14A2_ENST00000586448.1_Silent_p.P859P|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	859						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTGCCGCCCTGCACTTGGC	0.532000													75	604					4.12397e-46	4.65454e-46	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21940189	21940189	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:21940189G>A	ENST00000542643.2	-	10	708	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.R136W|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R167W|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R136W|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R200W|RAP1GAP_ENST00000374757.3_5'UTR	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	136					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTATGTCCGGCACTTGGTC	0.577000													4	289					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51480876	51480876	+	Silent	SNP	G	G	A	rs17855561		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000336317.4_Silent_p.C113C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1.			C -> W (in Ref. 6; AAH32005).	epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517000													5	269					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714068	28714068	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:28714068C>T	ENST00000257197.3	-	13	2163	c.1902G>A	c.(1900-1902)cgG>cgA	p.R634R	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.R634R	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	634	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAGATTTTGCCGTTGACGAA	0.343000													5	231					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622489	30622489	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:30622489C>T	ENST00000376442.3	-	19	3186	c.2991G>A	c.(2989-2991)atG>atA	p.M997I	DHX16_ENST00000376437.5_Missense_Mutation_p.M516I	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	997					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCACCTGTCTCATGAACTCTT	0.527000													96	135					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132R					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	74					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132425876	132425876	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:132425876G>C	ENST00000542167.2	+	4	1178	c.425G>C	c.(424-426)aGa>aCa	p.R142T	PUS1_ENST00000443358.2_Missense_Mutation_p.R167T|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.R195T|PUS1_ENST00000440818.2_Missense_Mutation_p.R167T			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	195						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TCCAAGAACAGATGTGATGCC	0.602000													72	145					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96396759	96396759	+	Silent	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:96396759T>C	ENST00000324765.8	+	22	3032	c.2685T>C	c.(2683-2685)ccT>ccC	p.P895P	DIAPH2_ENST00000355827.4_Silent_p.P895P|DIAPH2_ENST00000373061.3_Silent_p.P895P|DIAPH2_ENST00000373049.4_Silent_p.P895P|DIAPH2_ENST00000373054.4_Silent_p.P891P			O60879	DIAP2_HUMAN	diaphanous-related formin 2	895	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TAAAATTTCCTGAAGAACTGG	0.338000													4	94					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													9	293					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	171					0.0215528	0.021665	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42863394	42863394	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:42863394C>T	ENST00000334370.4	+	30	5922	c.5287C>T	c.(5287-5289)Cgc>Tgc	p.R1763C	MEGF8_ENST00000251268.6_Splice_Site_p.R1830C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1830						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGACCTCACCCGTAAGTCCCC	0.632000													14	33					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695267	114695267	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:114695267T>C	ENST00000374279.3	+	9	1625	c.1175T>C	c.(1174-1176)cTa>cCa	p.L392P		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	392					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GAGGAAATCCTAGATGTATAA	0.338000													15	121					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234069	190234069	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:190234069C>T	ENST00000367462.3	-	4	775	c.544G>A	c.(544-546)Gct>Act	p.A182T	BRINP3_ENST00000534846.1_Missense_Mutation_p.A80T|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	182								p.A182S(1)									AAATAAGAAGCGGCTAGCTGA	0.448000													85	125					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113591060	113591060	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:113591060G>A	ENST00000263341.2	-	4	402	c.192C>T	c.(190-192)gcC>gcT	p.A64A	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	64					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAACTGACGCGGCCTGCCTGA	0.587000													49	379					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711479	198711479	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:198711479C>A	ENST00000367376.2	+	25	2845	c.2674C>A	c.(2674-2676)Ctg>Atg	p.L892M	PTPRC_ENST00000442510.2_Missense_Mutation_p.L894M|PTPRC_ENST00000594404.1_Missense_Mutation_p.L731M|PTPRC_ENST00000352140.3_Missense_Mutation_p.L844M|PTPRC_ENST00000348564.6_Missense_Mutation_p.L733M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	892	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACAGAGATGCCTGATGGTTCA	0.373000													5	300					0.184627	0.184627	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|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	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		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)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	362					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													4	179					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987376	185987376	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:185987376C>T	ENST00000271588.4	+	34	5591	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1788C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1788	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAAATGGACGCAAACTGGT	0.408000													105	192					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227777	75227777	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr8:75227777G>A	ENST00000342232.4	-	2	498	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	153					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGATCACCGTGGCCATGCC	0.701000													24	192					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235299018	235299018	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:235299018C>T	ENST00000408888.3	-	10	1187	c.957G>A	c.(955-957)gtG>gtA	p.V319V	RBM34_ENST00000366606.3_Silent_p.V314V|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	319	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTTTGTCTCTCACAATCCTCA	0.448000													87	147					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349267	30349267	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:30349267G>A	ENST00000327564.7	+	1	1244	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E380K|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E286K|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E368K|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E368K			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	368						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCAGCAGGAGGCCCCAAT	0.507000													169	239					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87908476	87908476	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:87908476A>G	ENST00000243662.6	-	1	159	c.77T>C	c.(76-78)aTc>aCc	p.I26T		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTAGCGCTTGATGATACTGGT	0.632000													102	225					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836093	139836093	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:139836093G>A	ENST00000325285.3	-	7	1219	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	380							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CACCCAGCACGGGCCCTGCCG	0.637000													3	28					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196454	207196454	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:207196454C>T	ENST00000359470.5	-	4	904	c.655G>A	c.(655-657)Gag>Aag	p.E219K	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	219						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCTGGCCCCTCGGGCAGGCTG	0.627000													248	372					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593530	153593530	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:153593530C>T	ENST00000422373.1	-	11	1913	c.1665G>A	c.(1663-1665)acG>acA	p.T555T	FLNA_ENST00000360319.4_Silent_p.T555T|FLNA_ENST00000344736.4_Silent_p.T555T|FLNA_ENST00000369850.3_Silent_p.T555T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	555			T -> K (in OPD2).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCACCCCACGTGATGGTGA	0.602000													184	31					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48548430	48548430	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:48548430G>A	ENST00000427954.2	+	12	1375	c.1332G>A	c.(1330-1332)gcG>gcA	p.A444A	ACSF2_ENST00000504392.1_Silent_p.A376A|ACSF2_ENST00000502667.1_Silent_p.A406A|ACSF2_ENST00000300441.4_Silent_p.A419A|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Silent_p.A259A			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	419					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGACATTCGCGCACTTCCCTG	0.557000													5	256					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763950	82763950	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:82763950C>G	ENST00000373200.2	+	1	682	c.618C>G	c.(616-618)atC>atG	p.I206M	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	206	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AAAGAAGAATCAAGTTGGGCT	0.557000													81	19					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669361	45669361	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:45669361G>C	ENST00000322157.4	+	11	1537	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	NPEPPS_ENST00000544660.1_Missense_Mutation_p.D354H|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D430H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	434					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGAGATATTTGATGCTATATC	0.388000													17	288					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726769	32726769	+	Silent	SNP	A	A	G	rs114588981	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:32726769A>G	ENST00000435145.2	-	3	565	c.504T>C	c.(502-504)ggT>ggC	p.G168G	HLA-DQB2_ENST00000437316.2_Silent_p.G168G|HLA-DQB2_ENST00000411527.1_Silent_p.G168G			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	168					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGGACACAACACCGGCTGTCT	0.542000													14	180					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													7	131					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:72663998T>G	ENST00000425256.1	-	0	902																											ATAGCCGGGGTCCTTGAATAC	0.488000													4	85					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101468	27101468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:27101468C>T	ENST00000324856.7	+	18	5121	c.4750C>T	c.(4750-4752)Cag>Tag	p.Q1584*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1201*|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1584					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	p.Q1584*(1)	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)		TCACATTCCTCAGGTATCCAG	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								154	133					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351314	146351314	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:146351314C>T	ENST00000392299.2	+	2	1131	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	GRM1_ENST00000282753.1_Missense_Mutation_p.R221C|GRM1_ENST00000507907.1_Missense_Mutation_p.R221C|GRM1_ENST00000355289.4_Missense_Mutation_p.R221C|GRM1_ENST00000492807.2_Missense_Mutation_p.R221C|GRM1_ENST00000361719.2_Missense_Mutation_p.R221C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	221					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATAGTCAAACGTTACAATTG	0.463000													86	143					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	250					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153763388	153763388	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:153763388G>T	ENST00000393562.2	-	5	953	c.570C>A	c.(568-570)agC>agA	p.S190R	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.S160R|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	p.S160R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTACATCTGGCTCATGCAGG	0.657000													5	243					1.23904e-05	1.29965e-05	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141142	143141142	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:143141142G>T	ENST00000332690.1	+	1	597	c.597G>T	c.(595-597)atG>atT	p.M199I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	199					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTCTAAAAATGATTACTTGGA	0.418000													12	457					1.61879e-10	1.72611e-10	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													7	157					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614298	47614298	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:47614298C>T	ENST00000371891.3	+	12	1420	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.A365A|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	463						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACAATTTGCCATGAACCAGC	0.582000													12	477					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605360	179605360	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:179605360C>T	ENST00000589042.1	-	48	12824	c.12600G>A	c.(12598-12600)gaG>gaA	p.E4200E	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.E4029E|TTN_ENST00000591111.1_Silent_p.E3883E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.E3962E|TTN_ENST00000460472.2_Silent_p.E3837E|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3883							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)			TTTTCAGAGGCTCAACTGTTA	0.408000													83	131					0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102896554	102896554	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:102896554G>A	ENST00000370196.6	+	3	2919	c.877G>A	c.(877-879)Gct>Act	p.A293T	TLX1_ENST00000467928.2_3'UTR|RP11-31L23.3_ENST00000411459.1_RNA			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCGCTGCCCGCTGACCCTCT	0.637000			T	"""TRB@, TRD@"""	T-ALL								5	403					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206903367	206903367	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:206903367C>T	ENST00000367103.3	+	5	808	c.615C>T	c.(613-615)ctC>ctT	p.L205L	MAPKAPK2_ENST00000294981.4_Silent_p.L205L	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	205	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCCTGAAACTCACTGACTTTG	0.512000													143	223					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													7	503					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108589424	108589424	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:108589424C>T	ENST00000263054.6	-	3	641	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D212N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	212						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTCCATAATCGGTTGACCTA	0.373000													53	92					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37865123	37865123	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:37865123C>G	ENST00000436120.2	+	2	130	c.23C>G	c.(22-24)gCc>gGc	p.A8G	ZNF527_ENST00000483919.1_Missense_Mutation_p.A8G|ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.A8G	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTGTAAAGCCATGTCCCAG	0.423000													103	131					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9830077	9830077	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:9830077C>T	ENST00000323816.4	-	11	877	c.715G>A	c.(715-717)Gag>Aag	p.E239K	GAS7_ENST00000542249.1_Missense_Mutation_p.E235K|GAS7_ENST00000580865.1_Missense_Mutation_p.E159K|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.E299K|GAS7_ENST00000437099.2_Missense_Mutation_p.E235K|GAS7_ENST00000585266.1_Missense_Mutation_p.E239K|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.E235K			O60861	GAS7_HUMAN	growth arrest-specific 7	303	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTCTCCACCTCGCTGTGAAGC	0.587000			T	MLL	AML*								104	169					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621832	43621832	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:43621832G>A	ENST00000305641.5	-	1	971	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	LCMT2_ENST00000567039.1_Missense_Mutation_p.A35V|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	286					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TTTTCCACCCGCCGGCGTTCT	0.557000													7	221					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56287571	56287571	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:56287571C>T	ENST00000373965.2	-	3	552		c.e3+1		PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Splice_Site|RP11-257I14.1_ENST00000422842.1_RNA	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACTCACTTACCATTCCGACT	0.328000										HNSCC(58;0.16)			41	67					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13740210	13740210	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:13740210G>A	ENST00000383314.2	+	6	964	c.724G>A	c.(724-726)Gac>Aac	p.D242N	RNMT_ENST00000543302.2_Missense_Mutation_p.D242N|RNMT_ENST00000262173.3_Missense_Mutation_p.D242N|RNMT_ENST00000589866.1_Missense_Mutation_p.D242N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.D242N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	242					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GCGGTATGAGGACATGAAAAA	0.373000													15	83					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111381156	111381156	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:111381156G>T	ENST00000428084.1	-	47	5306	c.5034C>A	c.(5032-5034)aaC>aaA	p.N1678K	DOCK4_ENST00000437633.1_Missense_Mutation_p.N1669K|DOCK4_ENST00000494651.2_Missense_Mutation_p.N552K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1669	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTACCTGCATGTTAAAGACTT	0.408000													222	310					1.79474e-94	2.04962e-94	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40850897	40850897	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:40850897C>T	ENST00000264638.4	+	24	4341	c.4124C>T	c.(4123-4125)cCc>cTc	p.P1375L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1375					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGAACCTACCCCAGATCCTG	0.637000													44	82					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													5	155					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554045	140554045	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:140554045C>A	ENST00000231137.3	+	1	1803	c.1629C>A	c.(1627-1629)agC>agA	p.S543R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		543	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S543R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGCGAGGCGCTGG	0.701000													5	354					0.0215528	0.021665	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115963186	115963186	+	Missense_Mutation	SNP	G	G	A	rs138005760		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:115963186G>A	ENST00000251864.2	+	8	994	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	TDRD1_ENST00000369281.2_Missense_Mutation_p.V281M|TDRD1_ENST00000369282.1_Missense_Mutation_p.V281M|TDRD1_ENST00000369280.1_Missense_Mutation_p.V281M|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	281					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGACTTCTACGTGCAGTTATA	0.348000													105	151					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	711933	711933	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:711933C>A	ENST00000549091.1	+	32	3999	c.3907C>A	c.(3907-3909)Ctg>Atg	p.L1303M	WDR90_ENST00000293879.4_Missense_Mutation_p.L1303M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1303										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCTGGAGAGCTGACCTCGCT	0.652000													272	284					2.90841e-132	3.34121e-132	1	1	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													22	656					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51217364	51217364	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:51217364G>A	ENST00000261842.5	+	5	596	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E89K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	164					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	p.E164K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTTCCCCTGCGAAATGATTCC	0.368000													30	62					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	177					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463638	100463638	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:100463638C>G	ENST00000354161.3	+	14	2281	c.2156C>G	c.(2155-2157)tCt>tGt	p.S719C		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	719						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGCACCTCTCAGCTGCAC	0.692000													280	427					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49062630	49062630	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:49062630G>A	ENST00000326739.4	-	10	1118	c.1079C>T	c.(1078-1080)cCg>cTg	p.P360L		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	360					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AGCAATGACCGGAACACCAAA	0.577000													5	482					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616078	140616078	+	RNA	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:140616078C>T	ENST00000526308.1	+	0	2141					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCGAGCCTCCGCGCTCGGCC	0.716000													101	138					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219525808	219525808	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:219525808G>A	ENST00000431802.1	+	2	797	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	BCS1L_ENST00000412366.1_Missense_Mutation_p.R33Q|BCS1L_ENST00000392111.2_Missense_Mutation_p.R33Q|BCS1L_ENST00000392109.1_Missense_Mutation_p.R33Q|BCS1L_ENST00000439945.1_Missense_Mutation_p.R33Q|BCS1L_ENST00000392110.2_Missense_Mutation_p.R33Q|BCS1L_ENST00000359273.3_Missense_Mutation_p.R33Q			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	33					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGGCCCGGAAGGGTGTC	0.577000													5	396					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294188	62294188	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:62294188T>G	ENST00000378024.4	-	5	7975	c.7701A>C	c.(7699-7701)ttA>ttC	p.L2567F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2567					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTTAACTTAGGCC	0.478000													7	630					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001361	109001361	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr8:109001361C>T	ENST00000276659.5	-	3	826	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2H|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	69					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCCATACTGGCGCATCCCTTC	0.478000													25	273					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851456	47851456	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:47851456G>A	ENST00000289672.2	-	50	7590	c.7540C>T	c.(7540-7542)Cgc>Tgc	p.R2514C	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2514					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGTCGCTGCGGAAGATGCTG	0.612000													6	59					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2695533	2695533	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:2695533G>C	ENST00000324666.5	+	14	2502	c.2151G>C	c.(2149-2151)aaG>aaC	p.K717N	FAM193A_ENST00000502458.1_Missense_Mutation_p.K739N|FAM193A_ENST00000545951.1_Missense_Mutation_p.K717N|FAM193A_ENST00000505311.1_Missense_Mutation_p.K717N|FAM193A_ENST00000382839.3_Missense_Mutation_p.K717N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	717										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACACACGCAAGAGTTTCTGTC	0.592000													217	345					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207198379	207198379	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:207198379C>T	ENST00000359470.5	-	3	385	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	46						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TCCTTCTCTTCAGTGGACAGG	0.617000													60	78					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	T	G	rs111568648		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:21731075T>G	ENST00000584755.1	+	2	774	c.377T>G	c.(376-378)cTg>cGg	p.L126R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCTGGAAGATGGC	0.537000													5	272					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781363	5781363	+	Silent	SNP	C	C	T	rs114446728	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:5781363C>T	ENST00000389902.3	-	4	552	c.285G>A	c.(283-285)agG>agA	p.R95R	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	63					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACTTTTTAGGCCTTTCTTCTC	0.413000													134	236					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													7	469					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155231934	155231934	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:155231934C>G	ENST00000355379.3	-	1	287	c.9G>C	c.(7-9)caG>caC	p.Q3H	SCAMP3_ENST00000302631.3_Missense_Mutation_p.Q3H	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	3				Q -> R (in Ref. 2; AAB62724).	post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.Q3Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGTCTCTGCTCTGAGCCATGT	0.647000													61	93					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	480					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062030	76062030	+	Silent	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:76062030A>G	ENST00000260045.3	-	5	2269	c.2164T>C	c.(2164-2166)Ttg>Ctg	p.L722L		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	722					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATGTTAAGCAAAGCCAAGTTA	0.358000													50	69					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832096	86832096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:86832096G>A	ENST00000237455.4	-	4	1896	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	310					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TCCATGGCCTGAAGGGATATA	0.373000													82	170					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140136	158140136	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:158140136G>T	ENST00000313708.6	-	13	1493	c.1211C>A	c.(1210-1212)gCg>gAg	p.A404E	EBF1_ENST00000380654.4_Missense_Mutation_p.A373E|EBF1_ENST00000517373.1_Missense_Mutation_p.A396E|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	404					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGTCGGCCGCTCTCTTCAG	0.532000			T	HMGA2	lipoma								43	73					1.41504e-22	1.55171e-22	1	1	0
RCAN3	11123	broad.mit.edu	37	1	24861708	24861708	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:24861708C>T	ENST00000374395.4	+	5	980	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	RCAN3_ENST00000436717.2_Missense_Mutation_p.R213C|RCAN3_ENST00000412742.2_Silent_p.G165G|RCAN3_ENST00000538532.1_Missense_Mutation_p.R165C|RCAN3_ENST00000374393.2_Silent_p.G107G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	223					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CCAGACGAGGCGCCCCGACCC	0.577000													6	254					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335484	10335484	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:10335484C>T	ENST00000590320.1	-	2	208	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	33					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCCACCTGGCGGGAGGTCGT	0.557000													7	683					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													4	100					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000531206.1_Missense_Mutation_p.A599T|CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388000													6	163					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532105	140532105	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:140532105G>A	ENST00000231136.1	+	1	2267	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G620D	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		756					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGACGGGAGGCTCAGAAACA	0.557000													7	512					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352487	36352487	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:36352487C>G	ENST00000312412.4	-	11	1299	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D279H|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						GATATAGCATCAAATATCTCA	0.393000													13	238					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216005	10216005	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:10216005C>T	ENST00000418404.3	-	30	4414	c.4251G>A	c.(4249-4251)tcG>tcA	p.S1417S	MYH13_ENST00000252172.4_Silent_p.S1417S|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1417					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTCTCCAACGATGCGCACT	0.552000													23	57					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs45626231		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:14543063A>C	ENST00000358970.5	-	1	82	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547000													7	437					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482289	142482289	+	RNA	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:142482289G>A	ENST00000603901.1	+	0	669					NR_001296.3																						GTGCCCAGAAGAGAAGGCCTG	0.532000													5	213					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548083	47548083	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:47548083A>G	ENST00000334194.3	+	4	445	c.442A>G	c.(442-444)Att>Gtt	p.I148V		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	148						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CAACATCAGCATTCTGAAAAT	0.473000													7	210					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210561031	210561031	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:210561031C>T	ENST00000360351.4	+	7	4643	c.4137C>T	c.(4135-4137)gaC>gaT	p.D1379D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.D1375D|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1379					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCACCATTGACGACTCCATCA	0.423000													126	174					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5838495	5838495	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:5838495C>T	ENST00000324989.7	-	10	1537	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	CRMP1_ENST00000512574.1_Silent_p.A367A|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.A369A	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	369					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GCCTTACCACCGCCTTGTCCC	0.547000													12	298					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43230526	43230526	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr21:43230526C>T	ENST00000422911.1	-	22	2908	c.2807G>A	c.(2806-2808)cGg>cAg	p.R936Q	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.R916Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1245Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.R899Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.R879Q	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCTTGCGCCGCATGTGTCG	0.697000													33	92					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030253	177030253	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:177030253C>T	ENST00000367654.3	-	2	643	c.432G>A	c.(430-432)tcG>tcA	p.S144S	ASTN1_ENST00000367657.3_Silent_p.S144S|ASTN1_ENST00000424564.2_Silent_p.S144S|ASTN1_ENST00000361833.2_Silent_p.S144S|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTCTTCTGCCGACTCATGTT	0.502000													14	465					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961747	68961747	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:68961747G>A	ENST00000261778.1	+	13	2416	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GCAGAGCCATGAGACAGCCCC	0.483000													69	85					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	65					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	170					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774969	151774969	+	Missense_Mutation	SNP	C	C	G	rs142238895		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:151774969C>G	ENST00000368820.3	-	2	1149	c.212G>C	c.(211-213)cGc>cCc	p.R71P		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	71						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCCACAGGCGGTTCCCACT	0.637000													11	80					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263322	263322	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:263322G>A	ENST00000360127.6	+	2	704	c.688G>A	c.(688-690)Gag>Aag	p.E230K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	230	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.716000													5	105					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6008252	6008252	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:6008252G>A	ENST00000378156.4	-	8	1135	c.870C>T	c.(868-870)ggC>ggT	p.G290G	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	290					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGTGCACGCCCACACGCA	0.632000													16	54					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983173	142983173	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:142983173C>A	ENST00000359333.3	+	2	636	c.123C>A	c.(121-123)ttC>ttA	p.F41L	TMEM139_ENST00000409102.1_Missense_Mutation_p.F41L|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.F41L|TMEM139_ENST00000409244.1_Missense_Mutation_p.F41L|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409541.1_Missense_Mutation_p.F41L|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	41						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TTGCTTATTTCTTTCTCACAT	0.557000													7	405					0.00448238	0.00457725	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124941	31124941	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:31124941C>T	ENST00000304166.4	+	9	842	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	185					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCACTGCACACGCAACTTCAT	0.542000													29	234					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539568	46539568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:46539568G>T	ENST00000296142.3	+	1	588	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	6					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGGGGACACAGAAGTGTGGAA	0.572000													89	130					2.79064e-53	3.1682e-53	1	1	0
CXCL12	6387	broad.mit.edu	37	10	44873331	44873331	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:44873331C>T	ENST00000395794.2	-	4	332	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	ACCCTCTTCCCGGCTGGTGCG	0.617000													19	18					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768751	138768751	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:138768751G>A	ENST00000242351.5	-	3	788	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R158W|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R158W	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	158					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATCTGCTGCCGACCCTCTCCC	0.483000													55	67					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13259009	13259009	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr8:13259009G>A	ENST00000276297.4	-	3	1552	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	DLC1_ENST00000316609.5_Silent_p.G381G|DLC1_ENST00000511869.1_Silent_p.G381G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	381					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGTTGGTGTGCCTGATGGAG	0.517000													66	33					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													8	460					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482027	38482027	+	Silent	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:38482027T>C	ENST00000263409.4	-	20	3126	c.2964A>G	c.(2962-2964)gaA>gaG	p.E988E	LIFR_ENST00000453190.2_Silent_p.E988E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	988					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTTCTTCTTCTGGTTTTG	0.463000			T	PLAG1	salivary adenoma								8	391					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2225896	2225896	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:2225896A>G	ENST00000326181.6	+	18	1820	c.1688A>G	c.(1687-1689)tAc>tGc	p.Y563C		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	563					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GGCAGCGTCTACTCCATTGCT	0.577000													107	137					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													7	17					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113221262	113221262	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:113221262C>T	ENST00000401783.2	-	19	3790	c.3454G>A	c.(3454-3456)Gct>Act	p.A1152T	SVEP1_ENST00000302728.8_Missense_Mutation_p.A1152T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1129T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1152					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGAACCAGCGAATGGGGTA	0.448000													6	306					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207198319	207198319	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:207198319C>T	ENST00000359470.5	-	3	445	c.196G>A	c.(196-198)Gac>Aac	p.D66N	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	66						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTCCGCTGTCAGCCTCCGTG	0.582000													128	148					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	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	0.348000	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)			31	22					2.05212e-20	2.23762e-20	1	1	0
TPX2	22974	broad.mit.edu	37	20	30365382	30365382	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:30365382C>A	ENST00000340513.4	+	9	1351	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	TPX2_ENST00000300403.6_Missense_Mutation_p.Q275K			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	275					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCCTAAGAACCAGGAGGAATA	0.408000													65	100					3.36121e-32	3.77159e-32	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													5	159					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740845	37740845	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:37740845G>A	ENST00000539465.1	+	15	2913	c.2320G>A	c.(2320-2322)Gcg>Acg	p.A774T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A774T|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A596T|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A643T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	774						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATACTATGACGCGGCTGATAA	0.642000													45	163					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612191	47612191	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:47612191C>T	ENST00000302514.3	-	2	688	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	58	C1q 1.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AAGTCGCCCCCGATGTTCACG	0.667000													41	45					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21884056	21884056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr14:21884056G>C	ENST00000399982.2	-	5	1791	c.1727C>G	c.(1726-1728)tCa>tGa	p.S576*	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Nonsense_Mutation_p.S576*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.S297*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	576					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGGCGGTTTGAGCGTCTCTT	0.363000													145	222					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													9	150					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													9	261					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													9	74					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830196	26830196	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr22:26830196C>T	ENST00000215906.5	+	2	1053	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTGAGACCCTCTACAAAGCTT	0.532000													79	138					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284896	153284896	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:153284896T>C	ENST00000369980.3	-	2	457	c.290A>G	c.(289-291)gAc>gGc	p.D97G	IRAK1_ENST00000369974.2_Missense_Mutation_p.D97G|IRAK1_ENST00000429936.2_Missense_Mutation_p.D123G|IRAK1_ENST00000393687.2_Missense_Mutation_p.D97G|IRAK1_ENST00000393682.1_Missense_Mutation_p.D123G	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	97	Death.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	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)					TGTGATGATGTCCCGCGCACG	0.721000													41	5					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172491	36172491	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:36172491G>A	ENST00000357641.6	+	3	1758	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	BRPF3_ENST00000534694.1_Missense_Mutation_p.R502Q|BRPF3_ENST00000543502.1_Missense_Mutation_p.R502Q|BRPF3_ENST00000339717.7_Missense_Mutation_p.R502Q|BRPF3_ENST00000534400.1_Missense_Mutation_p.R502Q|BRPF3_ENST00000443324.2_Missense_Mutation_p.R502Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	502					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TTTATGCAGCGGCTTCACAAT	0.512000													137	195					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62402362	62402362	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:62402362C>T	ENST00000346178.4	-	5	506	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.R164Q|GANAB_ENST00000534779.1_Missense_Mutation_p.R50Q|GANAB_ENST00000540933.1_Missense_Mutation_p.R67Q	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	164					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CAAAAGACTTCGGTCCTCTAG	0.542000													158	225					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150555050	150555050	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:150555050G>A	ENST00000493429.1	+	4	2076	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	AOC1_ENST00000467291.1_Missense_Mutation_p.G498S|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.G498S|AOC1_ENST00000360937.4_Missense_Mutation_p.G498S					amine oxidase, copper containing 1									p.G498S(1)									GCTGCGCCACGGCACTCGCCT	0.587000													98	151					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816735	43816735	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:43816735G>C	ENST00000377564.3	+	6	1234	c.841G>C	c.(841-843)Gac>Cac	p.D281H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	281	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CGAGCTCCTCGACACGCAGGT	0.488000													8	174					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157425424	157425424	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:157425424G>A	ENST00000310454.6	+	10	1625	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	GPD2_ENST00000409125.4_Missense_Mutation_p.R191Q|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.R418Q|GPD2_ENST00000409674.1_Missense_Mutation_p.R418Q	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	418					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TCTATCTCCCGAAATCATGTT	0.393000													9	428					0	0	1	0	0
HMX1	3166	broad.mit.edu	37	4	8869691	8869691	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:8869691T>G	ENST00000400677.3	-	2	977	c.775A>C	c.(775-777)Aag>Cag	p.K259Q	HMX1_ENST00000506970.2_Intron	NM_018942.2	NP_061815.2	Q9NP08	HMX1_HUMAN	H6 family homeobox 1	259					multicellular organismal development|negative regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AGCTGCCGCTTCCACTTGTTG	0.721000													9	9					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	159					0.000442599	0.000459256	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27804223	27804223	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:27804223G>T	ENST00000408964.2	+	1	4835	c.4784G>T	c.(4783-4785)aGg>aTg	p.R1595M		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1595	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGTCCCTCTAGGAAAAACCAT	0.542000													8	415					5.18039e-06	5.49349e-06	1	1	0
ATP7A	538	broad.mit.edu	37	X	77268474	77268474	+	Silent	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:77268474A>G	ENST00000341514.6	+	10	2426	c.2271A>G	c.(2269-2271)gcA>gcG	p.A757A	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	757					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCACCATTGCATTTGCCTACT	0.408000													144	36					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	194					0.000602214	0.000621537	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918558	51918558	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:51918558G>T	ENST00000353836.5	-	7	1428	c.1207C>A	c.(1207-1209)Cag>Aag	p.Q403K	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q320K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q355K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q403K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q345K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q345K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q403K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q313K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q255K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	403	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCTGAGGGCTGGGAGGGGCTC	0.662000													39	229					1.47197e-15	1.57828e-15	1	1	0
EIF4E1B	253314	broad.mit.edu	37	5	176072437	176072437	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:176072437C>T	ENST00000318682.6	+	8	1118	c.534C>T	c.(532-534)gtC>gtT	p.V178V	EIF4E1B_ENST00000504597.1_Silent_p.V178V|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	178					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGGGCCGTCGTCAACATCC	0.622000													68	130					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													9	917					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000													12	482					5.35047e-06	5.64285e-06	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27107098	27107098	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:27107098G>C	ENST00000324856.7	+	20	7080	c.6709G>C	c.(6709-6711)Gcg>Ccg	p.A2237P	ARID1A_ENST00000540690.1_Missense_Mutation_p.A565P|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1854P|ARID1A_ENST00000457599.2_Missense_Mutation_p.A2020P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2237					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)		GGCTGCCCGCGCGCTGCTTGC	0.577000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								76	225					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720312	146720312	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:146720312C>T	ENST00000392299.2	+	8	2607	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	GRM1_ENST00000282753.1_Silent_p.L713L|GRM1_ENST00000507907.1_Silent_p.L713L|GRM1_ENST00000355289.4_Silent_p.L713L|GRM1_ENST00000492807.2_Silent_p.L713L|GRM1_ENST00000361719.2_Silent_p.L713L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	713					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCCTCAATTCTGATTAGTGT	0.507000													135	177					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263306	263306	+	Silent	SNP	C	C	T	rs111797689		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:263306C>T	ENST00000360127.6	+	2	688	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.697000													5	104					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620540	20620540	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:20620540C>T	ENST00000504154.1	+	37	4750	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1496W|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1492W|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1513W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1500	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGCAAGCGGCGGAAATACTC	0.557000													50	69					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74189515	74189515	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:74189515C>T	ENST00000498286.1	+	5	1163	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	MTO1_ENST00000415954.2_Missense_Mutation_p.L296F|MTO1_ENST00000370305.1_Missense_Mutation_p.L222F|MTO1_ENST00000370300.4_Missense_Mutation_p.L296F			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	296					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGAGATTGTCCTTAAGAACCT	0.408000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	199					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													7	177					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859614	131859614	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:131859614A>G	ENST00000359827.3	-	21	4902	c.3940T>C	c.(3940-3942)Ttc>Ctc	p.F1314L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.F1314L			Q9HCM2	PLXA4_HUMAN	plexin A4	1314						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGTCCAGGAACGGAATCCCG	0.572000													153	254					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216828	4216828	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:4216828C>T	ENST00000600132.1	+	18	1947	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	ANKRD24_ENST00000318934.4_Silent_p.N557N|ANKRD24_ENST00000262970.5_Silent_p.N647N	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	557										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAAAGTTAACGGAGCCGAGA	0.592000													27	40					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262015	39262015	+	Silent	SNP	T	T	C	rs140170009	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662000													6	156					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													7	156					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478387	79478387	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:79478387C>A	ENST00000575842.1	-	3	1055	c.629G>T	c.(628-630)cGc>cTc	p.R210L	ACTG1_ENST00000331925.2_Missense_Mutation_p.R210L|ACTG1_ENST00000575087.1_Missense_Mutation_p.R210L|ACTG1_ENST00000573283.1_Missense_Mutation_p.R210L			P63261	ACTG_HUMAN	actin, gamma 1	210					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTGATGTCGCGCACGATTTC	0.622000													44	306					1.76056e-25	1.94164e-25	1	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393													10	109	---	---	---	---					
RP11-353N4.5	0	broad.mit.edu	37	1	149649078	149649079	+	RNA	INS	-	-	A	rs140263023		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:149649078_149649079insA	ENST00000608683.1	-	0	533_534																											AGAGAGCCTTCAAAACCTCTTA	0.426													7	51	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													8	423	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													7	300	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)gccfs	p.A216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.A182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													8	588	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													9	233	---	---	---	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													8	303	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													9	1363	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:53529193_53529195delGAT	ENST00000288139.4	+	0	118_120				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													8	451	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													7	281	---	---	---	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:661763_661765delAGG	ENST00000255622.6	+	21	2514_2516	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_ENST00000429163.2_In_Frame_Del_p.E549del|PDE6B_ENST00000496514.1_In_Frame_Del_p.E828del	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	828					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													7	577	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389083	1389084	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:1389083_1389084insCA	ENST00000324803.4	+	1	3744_3745	c.784_785insCA	c.(784-786)tcafs	p.S262fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	262					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.693													8	810	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs2114202	byFrequency	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488													7	130	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	105918247	105918248	+	RNA	DEL	TT	TT	-	rs140898060		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr4:105918247_105918248delTT	ENST00000506386.1	+	0	71																											ttttttttcctttttttttttt	0.322													3	6	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													10	713	---	---	---	---					
JADE2	23338	broad.mit.edu	37	5	133914648	133914649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:133914648_133914649insC	ENST00000395003.1	+	11	2193_2194	c.2014_2015insC	c.(2014-2016)agcfs	p.S672fs	PHF15_ENST00000282605.4_Frame_Shift_Ins_p.S716fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.S673fs|PHF15_ENST00000402835.1_3'UTR	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		672	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCCTGAAAGCCCCCCGCCA	0.649													10	646	---	---	---	---					
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468													10	253	---	---	---	---					
TBX18	9096	broad.mit.edu	37	6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)cagfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTGGAGCTGGGGGGACATT	0.537													9	856	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttcttg>ttg	p.F267del	GABRR1_ENST00000454853.2_In_Frame_Del_p.F284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.F197del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													11	353	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													7	283	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:72159821delT	ENST00000343721.5	-	0	554				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													15	159	---	---	---	---					
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													7	207	---	---	---	---					
UBE3C	9690	broad.mit.edu	37	7	156967650	156967653	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs137977548		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr7:156967650_156967653delTGTT	ENST00000348165.5	+	5	740_743	c.380_383delTGTT	c.(379-384)ctgtttfs	p.LF127fs	UBE3C_ENST00000389103.4_Frame_Shift_Del_p.LF84fs	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	127					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CACAGCTCTCTGTTTGTCAAGCAG	0.319													72	166	---	---	---	---					
KHDRBS3	10656	broad.mit.edu	37	8	136554967	136554968	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr8:136554967_136554968insA	ENST00000355849.5	+	3	688_689	c.278_279insA	c.(277-282)acaaaafs	p.TK93fs	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	93	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GAAACCTTGACAAAAATGTCCA	0.376													89	283	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCA	rs112821450	by1000genomes	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr9:35906583_35906584insCCA	ENST00000354323.2	+	1	395_396	c.299_300insCCA	c.(298-303)ctccac>ctCCAccac	p.105_106insH		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													9	96	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													12	365	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	945	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aagaca>aca	p.K102del	FAU_ENST00000527548.1_In_Frame_Del_p.K102del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000531743.1_In_Frame_Del_p.K102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													7	462	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													10	435	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000322536.3_In_Frame_Del_p.D788del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								7	174	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				8	213	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													7	190	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)gaafs	p.E611fs	SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													7	448	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:50452565_50452567delGAG	ENST00000228468.4	+	2	401_403	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													8	308	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421128	55421128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:55421128delC	ENST00000242994.3	+	2	1283	c.905delC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGGCTGGTACCCCCCGTTAT	0.468													7	1830	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:57674205_57674207delTGC	ENST00000402412.1	-	14	1668_1670	c.1278_1280delGCA	c.(1276-1281)cagcaa>caa	p.426_427QQ>Q	R3HDM2_ENST00000347140.3_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													14	354	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													11	584	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	646	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636360	73636361	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr13:73636360_73636361insC	ENST00000377687.4	+	2	1159_1160	c.623_624insC	c.(622-627)atcaaafs	p.K209fs	KLF5_ENST00000539231.1_Frame_Shift_Ins_p.K118fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	209					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AATATTTTCATCAAACAAGAAC	0.530													91	150	---	---	---	---					
ING1	3621	broad.mit.edu	37	13	111371994	111371994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr13:111371994delG	ENST00000375774.3	+	2	1446	c.984delG	c.(982-984)aagfs	p.K331fs	ING1_ENST00000338450.7_Frame_Shift_Del_p.K144fs|ING1_ENST00000333219.7_Frame_Shift_Del_p.K188fs|ING1_ENST00000375775.3_Frame_Shift_Del_p.K119fs	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	331					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGACCTCCAAGAAGAAGAAGC	0.632													55	84	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													11	660	---	---	---	---					
THSD4	79875	broad.mit.edu	37	15	72021022	72021022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr15:72021022delT	ENST00000355327.3	+	9	1626	c.1492delT	c.(1492-1494)tttfs	p.F498fs	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Frame_Shift_Del_p.F138fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.F498fs			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	498						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGAGAGTCCTTTTTGGCGGA	0.483													9	738	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819161	2819163	+	In_Frame_Del	DEL	TCT	TCT	-	rs149101693	byFrequency	TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:2819161_2819163delTCT	ENST00000301740.8	+	12	8446_8448	c.7897_7899delTCT	c.(7897-7899)tctdel	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcttcctcttcttcttctt	0.581													10	253	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3781324	3781326	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:3781324_3781326delAGG	ENST00000262367.5	-	30	5848_5850	c.5039_5041delCCT	c.(5038-5043)tccttg>ttg	p.S1680del	CREBBP_ENST00000382070.3_In_Frame_Del_p.S1642del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1680	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S1680delS(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGCGGCGCAAGGAGGAGAACTC	0.645			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						34	98	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23091477	23091478	+	Frame_Shift_Ins	INS	-	-	GCGCCTGTCTC	rs150005992		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:23091477_23091478insGCGCCTGTCTC	ENST00000219689.7	-	13	1964_1965	c.1965_1966insGAGACAGGCGC	c.(1963-1968)cgcatgfs	p.M656fs		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	656					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGAAGTTTCATGCGCCTGTCTC	0.470													9	228	---	---	---	---					
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:30007665delA	ENST00000563197.1	+	1	1051	c.34delA	c.(34-36)aaafs	p.K14fs	INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	14					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AGTGGACTACAAAAAAAAATA	0.632													8	40	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													8	263	---	---	---	---					
PARD6A	50855	broad.mit.edu	37	16	67695546	67695547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:67695546_67695547insC	ENST00000458121.2	+	2	343_344	c.252_253insC	c.(253-255)cccfs	p.P85fs	PARD6A_ENST00000602551.1_Intron|PARD6A_ENST00000219255.3_Frame_Shift_Ins_p.P85fs	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	85	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGCCAGCGGGCCCCCGCCACT	0.658													8	171	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													9	264	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:27959375delG	ENST00000269033.3	-	15	2907	c.2756delC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483													7	1031	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													10	115	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													8	254	---	---	---	---					
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749													2	4	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453													9	341	---	---	---	---					
DAZAP1	26528	broad.mit.edu	37	19	1430360	1430360	+	Splice_Site	DEL	C	C	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:1430360delC	ENST00000336761.6	+	10	1075	c.870delC	c.(868-870)ttc>tt	p.F290fs	DAZAP1_ENST00000233078.4_Splice_Site_p.F290fs	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	290	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACAGTTCAGTAAGTCTA	0.667													33	65	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.346_347QQ>Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	335	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													15	151	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tctcgtfs	p.R343fs	HAUS8_ENST00000253669.5_Frame_Shift_Del_p.R404fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													8	755	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488													7	647	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													7	192	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3Z9-01A-11D-A26M-08	TCGA-FJ-A3Z9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0754b182-bfe6-4abb-a031-9de585b13a1e	f0064360-1581-48c5-8732-8b7208484c82	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													7	70	---	---	---	---