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
TRIM16L	147166	broad.mit.edu	37	17	18638504	18638504	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18638504T>A	ENST00000449552.2	+	7	2262	c.778T>A	c.(778-780)Ttc>Atc	p.F260I	TRIM16L_ENST00000571708.1_Missense_Mutation_p.F260I|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395902.3_Missense_Mutation_p.F314I|TRIM16L_ENST00000395672.2_Missense_Mutation_p.F260I|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F260I|TRIM16L_ENST00000395671.4_Missense_Mutation_p.F260I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	260	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CGGGAAGGAGTTCACGGCCTG	0.557000													13	82					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290659	141290659	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:141290659G>A	ENST00000247452.3	-	3	1462	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	372						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCACTCAGAAAAGGAGAC	0.512000										HNSCC(46;0.14)			40	22					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868804	7868804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:7868804G>A	ENST00000345088.2	+	3	455	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	113						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CATGAAAGAAGACCAACAAAC	0.299000													6	20					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819292	14819292	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14819292C>G	ENST00000380881.4	-	15	3304	c.2489G>C	c.(2488-2490)gGa>gCa	p.G830A	FREM1_ENST00000422223.2_Missense_Mutation_p.G829A|FREM1_ENST00000380880.3_Missense_Mutation_p.G829A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	829					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGAGGAAATCCATTCAGCTC	0.428000													9	29					0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170737358	170737358	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:170737358A>T	ENST00000296921.5	+	2	708	c.626A>T	c.(625-627)cAg>cTg	p.Q209L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACGGACGCGCAGGTCAAGACC	0.642000			T	BCL11B	T-ALL								3	15					0	0	1	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489565	201489565	+	RNA	SNP	C	C	T	rs4345829	by1000genomes	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:201489565C>T	ENST00000441932.1	+	0	1735				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						TACCTACAAACGGAGTGCTGT	0.572000													3	29					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805975	4805975	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:4805975C>T	ENST00000293780.4	-	2	140	c.130G>A	c.(130-132)Gag>Aag	p.E44K	C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	44					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						TCCTCAGGCTCCCGCACTGGC	0.542000													60	109					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139752	3139752	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3139752C>G	ENST00000252463.2	-	5	1605	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.Q424H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.Q167H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	506					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTGCGAGCTCTGCGTGAAGC	0.716000													7	4					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2453183	2453183	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:2453183C>G	ENST00000378466.3	-	2	193	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	PANK4_ENST00000435556.3_Missense_Mutation_p.V61L|PANK4_ENST00000491212.1_5'UTR	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	61					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AAAGACCGCACCTTGGCGACT	0.607000													44	138					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467712	33467712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:33467712G>A	ENST00000379471.2	-	12	1666	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.H475Y			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	527					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTCGAGAGTGAGCCAGCAGG	0.622000													12	41					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41259007	41259007	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:41259007C>G	ENST00000284440.4	+	1	158	c.14C>G	c.(13-15)cCg>cGg	p.P5R	UCHL1_ENST00000508768.1_Missense_Mutation_p.P5R|UCHL1_ENST00000512788.1_Missense_Mutation_p.P5R|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Missense_Mutation_p.P5R	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	5	Interaction with ubiquitin.				cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CAGCTCAAGCCGATGGAGATC	0.652000													22	45					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751938	124751938	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:124751938G>A	ENST00000321582.5	-	4	1262	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	TTLL11_ENST00000373776.3_Missense_Mutation_p.R359C|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCTGCCAGGCGGATGTCACTG	0.517000													50	110					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200569537	200569537	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:200569537T>A	ENST00000367350.4	-	12	2685	c.2247A>T	c.(2245-2247)acA>acT	p.T749T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	749					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTTAAGGATGTTATTTCTT	0.413000													63	293					0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136619260	136619260	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:136619260C>A	ENST00000355849.5	+	7	1280	c.870C>A	c.(868-870)agC>agA	p.S290R	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.S63R	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	290	Tyr-rich.				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)			ATGATAACAGCTATAGCACCC	0.403000													32	89					2.28855e-06	2.43688e-06	1	1	0
TNKS2	80351	broad.mit.edu	37	10	93582057	93582057	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:93582057C>G	ENST00000371627.4	+	7	1112	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	245					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTGTAGTGATCTGGTACCATT	0.328000													38	116					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83758479	83758479	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:83758479G>T	ENST00000265362.4	-	3	607	c.293C>A	c.(292-294)aCc>aAc	p.T98N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T98N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTCTTCTGGTGTAAGATAC	0.363000													24	78					1.75199e-13	1.9561e-13	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114483496	114483496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:114483496C>T	ENST00000369558.1	+	2	723	c.491C>T	c.(490-492)aCa>aTa	p.T164I	HIPK1_ENST00000426820.2_Missense_Mutation_p.T164I|HIPK1_ENST00000369555.2_Missense_Mutation_p.T164I|HIPK1_ENST00000369561.4_Missense_Mutation_p.T164I|HIPK1_ENST00000369554.2_Missense_Mutation_p.T164I|HIPK1_ENST00000369559.4_Missense_Mutation_p.T164I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTGACCACAAAGAGTAGC	0.517000													40	62					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523580	95523580	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:95523580C>T	ENST00000297591.5	-	13	3298	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Missense_Mutation_p.V1075I|KIAA1429_ENST00000421249.2_Missense_Mutation_p.V1075I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1075					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCATTAACTCCTTGTGTA	0.363000													15	25					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126191141	126191141	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:126191141C>G	ENST00000389709.3	-	2	968	c.915G>C	c.(913-915)gaG>gaC	p.E305D	ZXDC_ENST00000336332.5_Missense_Mutation_p.E305D	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	305					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TAAATGTCTTCTCACAGCCTG	0.478000													36	75					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098444	220098444	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220098444G>C	ENST00000323348.5	+	8	1001	c.827G>C	c.(826-828)cGt>cCt	p.R276P	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R66P|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R276P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	276						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGTTCGTGACCTGCTG	0.522000													44	58					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136030	156136030	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:156136030C>T	ENST00000329476.3	+	2	1428	c.939C>T	c.(937-939)atC>atT	p.I313I	NPY2R_ENST00000506608.1_Silent_p.I313I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	313					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.I313I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TCCACATCATCGCCATGTGCT	0.542000													22	38					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119617346	119617346	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:119617346G>T	ENST00000281938.2	+	1	900	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	77					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACTGCCACCGCCAGGTTTGG	0.672000													13	40					0.00010058	0.000106116	1	1	0
STAT6	6778	broad.mit.edu	37	12	57501482	57501482	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57501482C>T	ENST00000537215.2	-	0	275				STAT6_ENST00000556155.1_Missense_Mutation_p.S54N|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000300134.3_Missense_Mutation_p.S54N|STAT6_ENST00000543873.2_Missense_Mutation_p.S54N|STAT6_ENST00000454075.3_Missense_Mutation_p.S54N	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced						regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGTAGGGCACTAGCCAAGTT	0.607000													5	44					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220367155	220367155	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220367155A>C	ENST00000358215.3	+	6	850	c.481A>C	c.(481-483)Aca>Cca	p.T161P	GMPPA_ENST00000373908.1_Missense_Mutation_p.T161P|GMPPA_ENST00000313597.5_Missense_Mutation_p.T161P|GMPPA_ENST00000373917.3_Missense_Mutation_p.T161P|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.T161P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	161					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GAATCCACAGACACACGAGGT	0.582000													11	12					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90013790	90013790	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:90013790C>G	ENST00000428670.3	-	11	2271	c.1815G>C	c.(1813-1815)gaG>gaC	p.E605D	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E605D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E348D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E605D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E605D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	605					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCAGAATTATCTCAGATGCAC	0.343000													32	57					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:6866955C>T	ENST00000299454.4	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR10A5_ENST00000379831.2_Silent_p.L18L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413000													95	125					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158065	106158065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:106158065C>T	ENST00000513237.1	+	3	3826	c.3029C>T	c.(3028-3030)cCa>cTa	p.P1010L	TET2_ENST00000305737.2_Missense_Mutation_p.P989L|TET2_ENST00000413648.2_Missense_Mutation_p.P989L|TET2_ENST00000394764.1_Missense_Mutation_p.P989L|TET2_ENST00000545826.1_Missense_Mutation_p.P989L|TET2_ENST00000540549.1_Missense_Mutation_p.P989L|TET2_ENST00000380013.4_Missense_Mutation_p.P989L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	989					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGCAAGCCACATGCCTGT	0.463000			"""Mis N, F"""		MDS								29	25					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102262099	102262099	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102262099A>G	ENST00000370345.3	-	11	1419	c.1322T>C	c.(1321-1323)tTg>tCg	p.L441S	SEC31B_ENST00000451524.1_Missense_Mutation_p.L441S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	441					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TCCTGATCCCAAGGCCTCCTG	0.517000													32	72					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732105	92732105	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:92732105A>G	ENST00000379958.2	-	3	3575	c.3306T>C	c.(3304-3306)gcT>gcC	p.A1102A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1102						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAGTTTAGAGCATTGCCAA	0.373000													35	111					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3194930	3194930	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3194930C>G	ENST00000323404.1	-	1	946	c.947G>C	c.(946-948)tGa>tCa	p.*316S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGACCTCCTCAAGCCAGTGA	0.473000													13	56					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38161616	38161616	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:38161616G>A	ENST00000373055.1	+	3	531	c.258G>A	c.(256-258)gcG>gcA	p.A86A	CDCA8_ENST00000327331.2_Silent_p.A86A	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	86	Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAAGAGGCGGCAACAGTAA	0.408000													9	42					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:130174391C>T	ENST00000265379.6	+	37	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_ENST00000432398.2_Missense_Mutation_p.T2224M			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353000													12	68					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41035036	41035036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41035036G>A	ENST00000352632.3	+	18	4032	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K	SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1316K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1316K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E59K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1316K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1316					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACTGCCACGAGGTAGGAAC	0.597000											OREG0025472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	72					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88301116	88301116	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:88301116C>T	ENST00000418177.2	-	8	2102	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	GRM5_ENST00000305432.5_Missense_Mutation_p.E579K|GRM5_ENST00000393297.1_Missense_Mutation_p.E579K|GRM5_ENST00000455756.2_Missense_Mutation_p.E579K|GRM5_ENST00000305447.4_Missense_Mutation_p.E579K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	579					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCAATGGGTTCAGGGTCACCC	0.488000													16	25					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202687611	202687611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:202687611C>G	ENST00000450471.2	+	5	614	c.528C>G	c.(526-528)ttC>ttG	p.F176L	CDK15_ENST00000434439.1_Missense_Mutation_p.F176L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.F125L|CDK15_ENST00000374598.4_Missense_Mutation_p.F176L|CDK15_ENST00000260967.2_Missense_Mutation_p.F125L	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	176	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACTGACATTCGTTTTTGAAT	0.343000													39	70					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7592790	7592790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:7592790A>G	ENST00000264079.6	+	6	846	c.721A>G	c.(721-723)Aac>Gac	p.N241D		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	241					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAAGACCATTAACCTCCAGAG	0.612000													14	48					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404261	61404261	+	RNA	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:61404261C>G	ENST00000496593.1	+	0	865					NR_002775.2																						AATGTGAACTCCAAGCAGATG	0.532000													4	11					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30998994	30998994	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:30998994A>C	ENST00000298139.5	+	25	3265	c.3016A>C	c.(3016-3018)Act>Cct	p.T1006P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1006					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTATTTGGCACTGGCAAGGA	0.383000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				19	42					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85824470	85824470	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:85824470C>G	ENST00000284031.8	-	2	458	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	DDAH1_ENST00000542148.1_Missense_Mutation_p.E22Q|DDAH1_ENST00000426972.3_Missense_Mutation_p.E29Q|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.E122Q|DDAH1_ENST00000535924.2_Missense_Mutation_p.E19Q|DDAH1_ENST00000483110.1_5'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	122					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GTTGCATTTTCATCTTTCATC	0.284000													24	74					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226188	21226188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:21226188C>T	ENST00000592179.1	-	3	350	c.196G>A	c.(196-198)Gtt>Att	p.V66I	ANKRD29_ENST00000322980.9_Missense_Mutation_p.V66I|ANKRD29_ENST00000284207.7_Missense_Mutation_p.V66I	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	66										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTGCAGAACCAGTTCCCTC	0.498000													15	43					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786478	121786478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:121786478C>T	ENST00000261367.7	+	12	3505	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.Q204*|SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.Q248*|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.Q280*|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.Q586*|SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.Q646*|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.Q693*			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	646					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGGATGCTCAGGCTTCCTC	0.443000													10	47					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121577357	121577357	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:121577357G>C	ENST00000275159.6	-	16	1807	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*	TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.S603*					TBC1 domain family, member 32																		CAACATTTCTGATCCAGAAAA	0.343000													18	32					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537485	27537485	+	RNA	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:27537485G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GATTGCGATTGAGAATTAACT	0.368000													34	117					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696572	169696572	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:169696572A>C	ENST00000333360.7	-	10	1702	c.1563T>G	c.(1561-1563)ccT>ccG	p.P521P	SELE_ENST00000367775.1_Silent_p.P396P|SELE_ENST00000367779.4_Silent_p.P395P|SELE_ENST00000367774.1_Silent_p.P395P|SELE_ENST00000367780.4_Silent_p.P396P|SELE_ENST00000367781.4_Silent_p.P458P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Silent_p.P458P|SELE_ENST00000367776.1_Silent_p.P458P|SELE_ENST00000367782.4_Silent_p.P458P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	521	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCATCCTTCAGGACAGGCGA	0.542000													55	56					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34494143	34494143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:34494143G>T	ENST00000538621.1	+	2	306	c.61G>T	c.(61-63)Gag>Tag	p.E21*	PACSIN1_ENST00000244458.2_Nonsense_Mutation_p.E21*|PACSIN1_ENST00000374043.2_5'UTR|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	21	FCH.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAGCTTCTGGGAGGTGAGGCT	0.632000													8	26					5.18039e-06	5.48232e-06	1	1	0
FAM219A	203259	broad.mit.edu	37	9	34401056	34401056	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34401056T>C	ENST00000445726.1	-	6	770	c.464A>G	c.(463-465)gAc>gGc	p.D155G	FAM219A_ENST00000379080.1_Missense_Mutation_p.D142G|FAM219A_ENST00000379089.1_Missense_Mutation_p.D153G|FAM219A_ENST00000379087.1_Missense_Mutation_p.D136G|FAM219A_ENST00000379081.1_Missense_Mutation_p.D126G|FAM219A_ENST00000379084.1_Missense_Mutation_p.D137G|FAM219A_ENST00000297620.4_Missense_Mutation_p.D138G	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	155																	GTCCTCGTCGTCGGGGATCTC	0.617000													13	73					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64408130	64408130	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:64408130G>C	ENST00000262043.3	+	7	3038	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E900Q			Q92576	PHF3_HUMAN	PHD finger protein 3	900					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAGAAGCAAGAGATGAAAAA	0.333000													28	58					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149011634	149011634	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:149011634C>A	ENST00000333677.6	+	13	2071	c.1908C>A	c.(1906-1908)gaC>gaA	p.D636E		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	636	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGCCCAGGACAAGAAGGGGA	0.592000													7	50					0.00198382	0.00203696	1	1	0
ADRA1D	146	broad.mit.edu	37	20	4228599	4228599	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4228599G>A	ENST00000379453.4	-	1	1122	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	336					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TTGAGCAGGCGCACGGAGAGC	0.667000													5	14					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094374	27094374	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:27094374C>T	ENST00000324856.7	+	11	3453	c.3082C>T	c.(3082-3084)Ctg>Ttg	p.L1028L	ARID1A_ENST00000374152.2_Silent_p.L645L|ARID1A_ENST00000457599.2_Silent_p.L1028L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1028	ARID.				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)		GGACCGTTATCTGGCCTTCAC	0.502000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								51	100					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74776495	74776495	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74776495C>A	ENST00000264094.3	-	4	764		c.e4+1		LOXL3_ENST00000409549.1_Splice_Site|LOXL3_ENST00000484369.1_Splice_Site|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Splice_Site|DOK1_ENST00000409429.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3							extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						cggccccTCACCTGTAGAAGG	0.672000													3	9					0.004672	0.00476876	1	1	0
LEPR	3953	broad.mit.edu	37	1	66074462	66074462	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:66074462A>G	ENST00000349533.6	+	12	1815	c.1630A>G	c.(1630-1632)Aaa>Gaa	p.K544E	LEPR_ENST00000371060.3_Missense_Mutation_p.K544E|LEPR_ENST00000371058.1_Missense_Mutation_p.K544E|LEPR_ENST00000344610.8_Missense_Mutation_p.K544E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.K544E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	544	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCCAGTGTGAAAGCAGAAAT	0.313000													8	50					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498037	73498037	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:73498037C>T	ENST00000321617.3	-	18	3704	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E958K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1040	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTGGGCTCGGGCTGGGGA	0.697000													29	57					0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822451	1822451	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1822451G>C	ENST00000177742.3	-	3	479	c.449C>G	c.(448-450)cCc>cGc	p.P150R	MRPS34_ENST00000397375.2_Missense_Mutation_p.P143R			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	143						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						CTCGTGCTTGGGCACCAGCCG	0.627000													33	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579734	179579734	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:179579734C>T	ENST00000589042.1	-	90	26403	c.26179G>A	c.(26179-26181)Gtt>Att	p.V8727I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8410I|TTN_ENST00000342992.6_Missense_Mutation_p.V7483I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8410	Ig-like 70.						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)			ATGGAACCAACGCAAGTGTCG	0.478000													97	77					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649899	75649899	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:75649899C>T	ENST00000361470.2	+	1	1854	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	526	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TAAAGAATATCGCAACCAGTT	0.478000													22	5					0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92710355	92710355	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92710355C>G	ENST00000370373.2	+	6	636	c.172C>G	c.(172-174)Cga>Gga	p.R58G	C1orf146_ENST00000370375.3_Missense_Mutation_p.R117G			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	117										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTGTAACTTACGAATACTTCC	0.353000													33	52					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928487	122928487	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:122928487G>A	ENST00000534624.1	-	9	2172	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	HSPA8_ENST00000453788.2_Silent_p.P479P|HSPA8_ENST00000227378.3_Silent_p.P632P|HSPA8_ENST00000532636.1_Silent_p.P632P|HSPA8_ENST00000534319.1_Silent_p.P396P|HSPA8_ENST00000533540.1_Silent_p.P486P|HSPA8_ENST00000526110.1_Silent_p.P613P	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	632					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCACCAGAGGGAGGAGCTC	0.512000													14	78					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48244929	48244929	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:48244929G>A	ENST00000394747.1	-	10	1887	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A513V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A513V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A513V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A513V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	513	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGCCCGAGGGCATCTCTAGG	0.607000													20	54					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77991880	77991880	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:77991880T>C	ENST00000361507.4	-	2	228	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	GAB2_ENST00000340149.2_Missense_Mutation_p.Y10C|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	48	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GTTCTTGTAGTATTCCAGAAC	0.507000													38	71					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8927305	8927305	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:8927305C>T	ENST00000234590.4	-	6	434	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	105	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCGCACCAAACTTAGCTAGAA	0.542000													35	82					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320761	49320761	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:49320761C>G	ENST00000559471.1	-	5	1046	c.783G>C	c.(781-783)caG>caC	p.Q261H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Q261H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	261										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CACTAGCCCCCTGCTCACTAG	0.512000													31	87					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660726	150660726	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:150660726C>T	ENST00000335230.3	-	9	1404	c.993G>A	c.(991-993)aaG>aaA	p.K331K	SLC36A3_ENST00000377713.3_Silent_p.K372K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	331						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACATCAGCTTGACTGACT	0.517000													8	60					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74089432	74089432	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74089432G>A	ENST00000409707.1	+	10	1367		c.e10+1		STAMBP_ENST00000339566.3_3'UTR|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_3'UTR|STAMBP_ENST00000394070.2_3'UTR			O95630	STABP_HUMAN	STAM binding protein						JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CCATATCAGTGTACTGTAGCC	0.438000													8	25					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89069337	89069337	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:89069337C>G	ENST00000251038.5	+	12	1905	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555755.1_Silent_p.L560L|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Silent_p.L535L|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Silent_p.L262L|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	560						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCAGAGGTCTCCTCCACCCAC	0.512000													15	45					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350174	30350174	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:30350174C>T	ENST00000359358.4	-	2	819	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLHL14_ENST00000358095.4_Silent_p.L127L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	127	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCAGCCCTGCAGCACCAGGT	0.677000													38	118					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:20647449C>A	ENST00000272233.4	+	1	615	c.223C>A	c.(223-225)Ccg>Acg	p.P75T		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTCCTACCCGGACACCGA	0.647000													20	113					1.37522e-17	1.57625e-17	1	1	0
DST	667	broad.mit.edu	37	6	56468442	56468442	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:56468442C>A	ENST00000370754.5	-	40	10761	c.10762G>T	c.(10762-10764)Gat>Tat	p.D3588Y	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D3084Y|DST_ENST00000312431.6_Missense_Mutation_p.D3410Y|DST_ENST00000361203.3_Missense_Mutation_p.D3410Y|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D3410Y			Q03001	DYST_HUMAN	dystonin	3410					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGTTTCATATCTTGAAGCAAT	0.363000													49	66					1.47857e-17	1.6891e-17	1	1	0
GKAP1	80318	broad.mit.edu	37	9	86403527	86403527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:86403527C>G	ENST00000376371.2	-	5	827	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	GKAP1_ENST00000376365.3_Missense_Mutation_p.E143Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	143					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTTTTGTGCTCTTCATATTCT	0.284000													30	73					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32031321	32031321	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:32031321C>T	ENST00000281081.7	+	2	201	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	52					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GAACACAAATCATGTCCCGAG	0.398000													6	24					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932181	41932181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41932181C>G	ENST00000321702.2	-	3	956	c.503G>C	c.(502-504)aGa>aCa	p.R168T	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	168					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CCACGTCTCTCTCACGGCCTG	0.627000													51	96					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179131259	179131259	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:179131259G>C	ENST00000232564.3	-	8	926	c.640C>G	c.(640-642)Cga>Gga	p.R214G	GNB4_ENST00000468623.1_Missense_Mutation_p.R214G|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	214					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	p.R214R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATTCCATCTCGAATATCCCAT	0.398000													27	99					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506171	78506171	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:78506171G>T	ENST00000545128.1	+	1	612	c.74G>T	c.(73-75)tGc>tTc	p.C25F	PCSK5_ENST00000376767.3_Missense_Mutation_p.C25F|PCSK5_ENST00000376752.4_Missense_Mutation_p.C25F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	25					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCGGGGGCTGCCTGCTCCCC	0.701000													24	57					2.98393e-07	3.18717e-07	1	1	0
COMMD1	150684	broad.mit.edu	37	2	62227996	62227996	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:62227996G>T	ENST00000311832.5	+	2	373	c.341G>T	c.(340-342)cGc>cTc	p.R114L	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.R114L	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	114					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AACCAGAGCCGCTGGAATAGC	0.502000													36	36					5.8336e-16	6.5771e-16	1	1	0
TNFSF13B	10673	broad.mit.edu	37	13	108922250	108922250	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:108922250G>C	ENST00000375887.4	+	1	185	c.7G>C	c.(7-9)Gac>Cac	p.D3H	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.D3H|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.D3H	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	3					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGATATGGATGACTCCACAGA	0.443000													39	64					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6750553	6750553	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:6750553C>T	ENST00000230859.6	+	10	1176	c.1047C>T	c.(1045-1047)agC>agT	p.S349S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	349	Ser-rich.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGCTGTCCAGCCCCCAGCTCC	0.572000													20	33					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241401	3241401	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:3241401G>C	ENST00000217939.6	-	5	2479	c.2325C>G	c.(2323-2325)aaC>aaG	p.N775K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	775						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAATCTGTTTGTTTGCCATGT	0.443000													46	30					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41917223	41917223	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:41917223A>G	ENST00000381647.2	+	6	726	c.707A>G	c.(706-708)gAt>gGt	p.D236G		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	236										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CATGAAGTGGATACTAGTGTG	0.418000													33	61					0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1610867	1610867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:1610867G>A	ENST00000380874.2	+	1	187	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	63					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CATGGCCCGCGCCTACGGGCC	0.721000													4	44					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123355588	123355588	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123355588G>A	ENST00000267202.2	-	2	513	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	44					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TCATTTCTTTGTTAAGCTGAA	0.502000													15	45					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044500	33044500	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:33044500T>C	ENST00000286835.7	-	20	3038	c.2656A>G	c.(2656-2658)Atg>Gtg	p.M886V	SCAF4_ENST00000399804.1_Missense_Mutation_p.M864V|SCAF4_ENST00000434667.3_Missense_Mutation_p.M871V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	886						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTGTGCATCATGTGCGGT	0.647000													11	60					0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69423627	69423627	+	Silent	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:69423627T>C	ENST00000357336.3	+	15	2204	c.1923T>C	c.(1921-1923)tcT>tcC	p.S641S		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	641										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAGATGTTTCTGTACAAGTAG	0.338000													34	305					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583976	145583976	+	Missense_Mutation	SNP	G	G	A	rs144912258	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:145583976G>A	ENST00000532887.1	+	3	1407	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC52A2_ENST00000540505.1_Missense_Mutation_p.R187H|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R275H|SLC52A2_ENST00000329994.2_Missense_Mutation_p.R275H|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R275H|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.R275H			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	275						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTATCAGCCCGCAGTGCCTGC	0.632000													29	60					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486692	37486692	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:37486692T>G	ENST00000377792.3	+	1	543	c.255T>G	c.(253-255)acT>acG	p.T85T	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	85					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGGGCTGCACTCTTACAGTCC	0.507000													31	91					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814746	55814746	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:55814746G>A	ENST00000309383.1	+	11	1373	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	BRSK1_ENST00000326848.7_Missense_Mutation_p.D61N|BRSK1_ENST00000590333.1_Missense_Mutation_p.D382N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	366					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCTGTGAGGACCAGGACCT	0.567000													23	94					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47248883	47248883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:47248883C>G	ENST00000396220.1	-	34	4584	c.4562G>C	c.(4561-4563)cGg>cCg	p.R1521P	PREX1_ENST00000371941.3_Silent_p.A1486A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	0					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAAATCCTCCGCGGCCTGGC	0.647000													49	131					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72883944	72883944	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:72883944G>A	ENST00000339594.4	-	9	3107	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	BAZ1B_ENST00000404251.1_Silent_p.F923F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	923					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTTTCAATGAATAATCCTG	0.418000													16	56					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628794	84628794	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:84628794T>C	ENST00000284136.6	-	17	2339	c.2296A>G	c.(2296-2298)Aga>Gga	p.R766G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	766	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCAGGTCTCTGTGATGTCTT	0.433000													25	51					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82036336	82036336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:82036336G>T	ENST00000372213.3	-	6	824	c.564C>A	c.(562-564)taC>taA	p.Y188*		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	188					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCTGCATGTACTGAACTG	0.592000													45	105					7.05121e-23	8.16332e-23	1	1	0
PARP14	54625	broad.mit.edu	37	3	122399790	122399790	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:122399790G>T	ENST00000474629.2	+	1	326	c.60G>T	c.(58-60)ccG>ccT	p.P20P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCGACCCCCCGAAGAACTTGA	0.682000													6	15					1.06961e-07	1.14958e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57335915	57335915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:57335915C>T	ENST00000326441.9	-	4	472	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E37K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	37					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTGGACCTTCTCCTATGATG	0.473000													72	41					0	0	1	0	0
SFRP5	6425	broad.mit.edu	37	10	99529459	99529459	+	Silent	SNP	G	G	A	rs144832598	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:99529459G>A	ENST00000266066.3	-	2	691	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	191	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCATGAGGCCGTCAGCACTGT	0.602000													3	21					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44109632	44109632	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:44109632C>T	ENST00000267812.3	-	2	326	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	32						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTCACTTTTTCCATTGAAATC	0.433000													28	68					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183908076	183908076	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:183908076C>T	ENST00000361927.4	-	12	2071	c.1700G>A	c.(1699-1701)gGg>gAg	p.G567E	COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367520.3_Missense_Mutation_p.G304E|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.G175E	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		ACTCAGGTACCCCGGCTGGCC	0.562000													18	134					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346425	23346425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:23346425G>T	ENST00000359591.4	+	7	2522	c.1831G>T	c.(1831-1833)Gag>Tag	p.E611*	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	611					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAAGATGGGGAGCAGGCACC	0.667000													21	58					4.96729e-08	5.37215e-08	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110783086	110783086	+	Silent	SNP	G	G	C	rs147309970		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:110783086G>C	ENST00000395494.2	+	17	3122	c.2559G>C	c.(2557-2559)ccG>ccC	p.P853P	ATP2A2_ENST00000539276.2_Silent_p.P880P|ATP2A2_ENST00000308664.6_Silent_p.P880P			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	880					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGGACAACCCGGACTTTGAAG	0.448000													62	158					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022986	186022986	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:186022986C>A	ENST00000271588.4	+	44	6959	c.6730C>A	c.(6730-6732)Cga>Aga	p.R2244R	HMCN1_ENST00000367492.2_Silent_p.R2244R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2244	Ig-like C2-type 20.				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						TTCCATGGGGCGAGTTAGAAT	0.428000													16	95					1.15088e-07	1.23308e-07	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	64					0	0	1	0	0
DUSP2	1844	broad.mit.edu	37	2	96810513	96810513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:96810513G>A	ENST00000288943.4	-	2	582	c.497C>T	c.(496-498)cCt>cTt	p.P166L		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	166					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GTCGTAGACAGGAGCCCTGGA	0.672000													6	3					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013790	49013790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49013790A>G	ENST00000600059.1	-	2	363	c.136T>C	c.(136-138)Tgc>Cgc	p.C46R	LMTK3_ENST00000270238.3_Missense_Mutation_p.C75R					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGCCGGAGCAGGAAATGAGG	0.622000													6	3					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156051352	156051352	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:156051352C>G	ENST00000532414.2	-	1	437	c.438G>C	c.(436-438)gaG>gaC	p.E146D	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	146	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCCCACGATCTCGGCCACGT	0.637000													4	9					0	0	1	0	0
FBXL8	55336	broad.mit.edu	37	16	67197579	67197579	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:67197579C>T	ENST00000258200.3	+	3	1158	c.981C>T	c.(979-981)tgC>tgT	p.C327C	FBXL8_ENST00000519917.1_Silent_p.C327C|HSF4_ENST00000421453.1_5'UTR|HSF4_ENST00000264009.8_5'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	327							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGGCGCGCTGCGCGGCCCTGC	0.716000													10	14					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28960364	28960364	+	RNA	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:28960364G>T	ENST00000417404.1	+	0	1225																											TTATATTAATGAGAACATGGA	0.438000													22	14					3.73148e-12	4.12615e-12	1	1	0
AGPAT1	10554	broad.mit.edu	37	6	32138226	32138226	+	Silent	SNP	G	G	A	rs141411867		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:32138226G>A	ENST00000395499.1	-	4	1065	c.486C>T	c.(484-486)gtC>gtT	p.V162V	AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375107.3_Silent_p.V162V|AGPAT1_ENST00000395497.1_Silent_p.V162V|AGPAT1_ENST00000336984.6_Silent_p.V162V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Silent_p.V50V|AGPAT1_ENST00000375104.2_Silent_p.V162V|AGPAT1_ENST00000395496.1_Silent_p.V162V			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	162					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGGTCTGGGCGACCTCAGACA	0.582000													28	45					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234465604	234465604	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:234465604G>C	ENST00000251722.6	-	5	560	c.443C>G	c.(442-444)tCt>tGt	p.S148C	USP40_ENST00000427112.2_Missense_Mutation_p.S148C|USP40_ENST00000450966.1_Missense_Mutation_p.S160C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCAACTAAAGAAGTTTCCAA	0.428000													41	34					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25832777	25832777	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:25832777G>C	ENST00000381801.5	-	7	1541	c.780C>G	c.(778-780)aaC>aaG	p.N260K	MTMR6_ENST00000540661.1_Missense_Mutation_p.N260K|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	260	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TATTGGAATAGTTGTCTTCAT	0.294000													16	30					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10541378	10541378	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:10541378G>C	ENST00000334534.5	+	4	328	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGAAACCATTGATTCAAGAGT	0.323000													12	44					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718330	142718330	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:142718330G>A	ENST00000381779.4	-	2	820	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SLITRK4_ENST00000338017.4_Silent_p.L199L|SLITRK4_ENST00000356928.1_Silent_p.L199L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	199						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTTCCAGAACCCCGATA	0.443000													48	35					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1495028	1495028	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:1495028C>A	ENST00000283415.3	-	3	412	c.280G>T	c.(280-282)Gtt>Ttt	p.V94F		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	94					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AAGTCCACAACCCTGCAAAAG	0.697000													6	7					0.0215528	0.0218697	1	1	0
ZC3HC1	51530	broad.mit.edu	37	7	129663417	129663417	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129663417G>C	ENST00000358303.4	-	8	1251	c.1167C>G	c.(1165-1167)ggC>ggG	p.G389G	ZC3HC1_ENST00000311873.5_Silent_p.G368G|ZC3HC1_ENST00000360708.5_Intron|ZC3HC1_ENST00000481503.1_Silent_p.G346G|RP11-306G20.1_ENST00000587038.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	389					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GTACCTCCAGGCCAGGGGTGT	0.617000													24	101					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973488	15973488	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:15973488T>A	ENST00000268712.3	-	31	4761	c.4504A>T	c.(4504-4506)Act>Tct	p.T1502S	NCOR1_ENST00000395857.3_Missense_Mutation_p.T86S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T1518S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1502	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCATCAGAAGTTCTGTTCATC	0.383000													36	151					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241661251	241661251	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:241661251G>A	ENST00000498729.2	-	44	4962	c.4716C>T	c.(4714-4716)caC>caT	p.H1572H	KIF1A_ENST00000320389.7_Silent_p.H1471H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1471					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGACGCAGACGTGGCTGTGTG	0.652000													6	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086960	9086960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:9086960C>G	ENST00000397910.4	-	1	5058	c.4855G>C	c.(4855-4857)Gag>Cag	p.E1619Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1619	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCCAGTCTCAATCTCTCTG	0.512000													57	117					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137278576	137278576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:137278576C>G	ENST00000033079.3	-	21	2961	c.2510G>C	c.(2509-2511)cGa>cCa	p.R837P	FAM13B_ENST00000420893.2_Missense_Mutation_p.R809P|FAM13B_ENST00000425075.2_Missense_Mutation_p.R713P	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGAAGCTGCTCGAGAACTTGA	0.323000													35	43					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111953957	111953957	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:111953957C>T	ENST00000377617.3	-	10	2017		c.e10+1		ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000542287.2_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site|ATXN2_ENST00000608853.1_Splice_Site	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2						cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTATTGTACCTTCTGAAGA	0.428000													6	26					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105779625	105779625	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:105779625G>T	ENST00000369755.3	+	16	3811	c.3266G>T	c.(3265-3267)aGt>aTt	p.S1089I	SLK_ENST00000335753.4_Missense_Mutation_p.S1058I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1089					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTTAAGAAGAGTTTGAGAATT	0.378000													43	95					8.72198e-27	1.0235e-26	1	1	0
ATM	472	broad.mit.edu	37	11	108122624	108122624	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:108122624A>G	ENST00000278616.4	+	11	2053	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K	ATM_ENST00000452508.2_Silent_p.K556K	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	556					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAACGGTAAAAATGGGAATAG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			49	65					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442969	51442969	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:51442969G>A	ENST00000418425.2	+	2	293		c.e2+1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000380123.2_Splice_Site|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000547008.1_Splice_Site|LETMD1_ENST00000548516.1_Splice_Site	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TTCATGAAAGGTAAAAACGAA	0.413000													5	34					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17312615	17312615	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:17312615C>T	ENST00000341676.5	-	27	3518	c.3342G>A	c.(3340-3342)ctG>ctA	p.L1114L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_3'UTR|ATP13A2_ENST00000452699.1_3'UTR	NM_001141974.1	NP_001135446.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	477					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCGCCAACCTCAGGGATGTGG	0.652000													5	11					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42877222	42877222	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:42877222A>G	ENST00000025301.2	+	8	4515	c.4340A>G	c.(4339-4341)tAt>tGt	p.Y1447C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1447				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117).	intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGGATCCATATAGAAATGAG	0.388000													39	87					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1782613	1782613	+	Missense_Mutation	SNP	C	C	T	rs143517230	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:1782613C>T	ENST00000236671.2	-	2	286	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	52					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTTTGAGACGGGGCCTTTG	0.612000													19	23					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56921870	56921870	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:56921870C>G	ENST00000438926.2	+	18	2241	c.2212C>G	c.(2212-2214)Ctg>Gtg	p.L738V	SLC12A3_ENST00000563236.1_Missense_Mutation_p.L738V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.L737V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.L737V	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	738			L -> R (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCAACATTCTGGTGGTTGG	0.602000													20	44					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19263328	19263328	+	Missense_Mutation	SNP	C	C	G	rs61910741	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:19263328C>G	ENST00000454498.2	-	10	2575	c.1562G>C	c.(1561-1563)cGc>cCc	p.R521P	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R521P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	521					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTTCTGTTTGCGAAGGTGAGC	0.488000													4	77					0	0	1	0	0
CREBL2	1389	broad.mit.edu	37	12	12788795	12788795	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:12788795C>T	ENST00000228865.2	+	2	381	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	34					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGAGAGGAGCCGGCAGAGTGC	0.488000													11	14					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84159597	84159597	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:84159597C>G	ENST00000324537.5	+	4	504	c.12C>G	c.(10-12)atC>atG	p.I4M	SH3GL3_ENST00000535412.1_Intron|SH3GL3_ENST00000427482.2_Intron|SH3GL3_ENST00000434347.1_Missense_Mutation_p.I4M			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	0	Membrane-binding amphipathic helix (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGATGGAATCTTTGCTGGGA	0.398000													45	86					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5258028	5258028	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5258028C>T	ENST00000372412.4	-	8	942	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PTPRS_ENST00000353284.2_Splice_Site_p.V227I|PTPRS_ENST00000348075.2_Splice_Site_p.V227I|PTPRS_ENST00000592099.1_Splice_Site_p.V227I|PTPRS_ENST00000357368.4_Splice_Site_p.E236K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Splice_Site_p.V236I|PTPRS_ENST00000587303.1_Splice_Site_p.E236K|PTPRS_ENST00000588012.1_Splice_Site_p.V227I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	236					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGTTCCCTACCTCGCACGTAG	0.662000													32	59					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88189288	88189288	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:88189288C>G	ENST00000309495.5	+	1	1035	c.828C>G	c.(826-828)aaC>aaG	p.N276K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAATTGCAACGAGTCGTTTA	0.373000													46	71					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29925227	29925227	+	Splice_Site	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:29925227A>T	ENST00000490103.1	-	9	971	c.849T>A	c.(847-849)gaT>gaA	p.D283E	THOC5_ENST00000397871.1_Splice_Site_p.D283E|THOC5_ENST00000397873.2_Splice_Site_p.D283E|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site_p.D283E	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	283					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAACGTCTTATCTGGGGGGC	0.532000													55	90					0	0	1	0	0
C19orf25	148223	broad.mit.edu	37	19	1475148	1475148	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:1475148G>T	ENST00000436106.2	-	3	635	c.240C>A	c.(238-240)ggC>ggA	p.G80G	C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000588871.1_Silent_p.G80G|C19orf25_ENST00000585675.1_Silent_p.G80G|C19orf25_ENST00000592872.1_Silent_p.G80G|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000586564.1_Silent_p.G80G|C19orf25_ENST00000427685.2_Silent_p.G120G			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25	80							protein binding						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)		TCAGCACGTTGCCCGCCTGCT	0.672000													7	4					0.00198382	0.00203696	1	1	0
ABL2	27	broad.mit.edu	37	1	179077602	179077602	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:179077602G>A	ENST00000502732.1	-	12	3003	c.2800C>T	c.(2800-2802)Ctt>Ttt	p.L934F	ABL2_ENST00000507173.1_Missense_Mutation_p.L810F|ABL2_ENST00000512653.1_Missense_Mutation_p.L919F|ABL2_ENST00000511413.1_Missense_Mutation_p.L831F|ABL2_ENST00000504405.1_Missense_Mutation_p.L795F|ABL2_ENST00000408940.3_Missense_Mutation_p.L898F|ABL2_ENST00000367623.4_Missense_Mutation_p.L913F|ABL2_ENST00000344730.3_Missense_Mutation_p.L816F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	934	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTGAGATAAGGACTGGCACT	0.557000			T	ETV6	AML								66	55					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423150	44423150	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423150G>T	ENST00000372343.3	+	7	2131	c.1469G>T	c.(1468-1470)gGg>gTg	p.G490V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	490					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGGTGCCTGGGCTCATTGGC	0.562000													12	114					6.44725e-10	7.01673e-10	1	1	0
VANGL1	81839	broad.mit.edu	37	1	116206768	116206768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:116206768C>T	ENST00000355485.2	+	4	962	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	VANGL1_ENST00000310260.3_Missense_Mutation_p.L231F|VANGL1_ENST00000369509.1_Missense_Mutation_p.L231F|VANGL1_ENST00000369510.4_Missense_Mutation_p.L229F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	231					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGATGCCCTCCTCTTCATCCA	0.572000													22	86					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716256	39716256	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:39716256C>A	ENST00000553728.1	+	4	691	c.478C>A	c.(478-480)Cag>Aag	p.Q160K	MIA2_ENST00000556784.1_Missense_Mutation_p.Q159K|MIA2_ENST00000280082.3_Missense_Mutation_p.Q160K																							AAGTGATTTTCAGATAGAACC	0.323000													26	53					7.92952e-12	8.71237e-12	1	1	0
HERC1	8925	broad.mit.edu	37	15	63970149	63970149	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63970149C>G	ENST00000443617.2	-	37	7052	c.6965G>C	c.(6964-6966)cGg>cCg	p.R2322P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2322					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTGAACACACCGACCTCCAAC	0.557000													31	91					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572572	108572572	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:108572572G>T	ENST00000295756.6	+	6	639	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TRAT1_ENST00000426646.1_Missense_Mutation_p.D100Y	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	137			D -> G (in dbSNP:rs57744779).		cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAAGGATGGAGATGAGCAACT	0.453000													28	99					2.41591e-17	2.75079e-17	1	1	0
SDHA	6389	broad.mit.edu	37	5	240522	240522	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:240522G>A	ENST00000264932.6	+	11	1597	c.1482G>A	c.(1480-1482)atG>atA	p.M494I	SDHA_ENST00000510361.1_Missense_Mutation_p.M446I|SDHA_ENST00000504309.1_Missense_Mutation_p.M494I	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	494					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATCTGTCATGAATCTTGACA	0.398000									Familial Paragangliomas				14	48					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908193	29908193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:29908193G>A	ENST00000308713.5	-	3	988	c.461C>T	c.(460-462)aCg>aTg	p.T154M	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T84M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T110M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T154M|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	154	Thr-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.T154M(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGTGGTCGTCGTCTCCTC	0.672000													21	43					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039203	49039203	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039203A>C	ENST00000267163.4	+	22	2419	c.2281A>C	c.(2281-2283)Atg>Ctg	p.M761L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	761	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCGGTCTTCATGCAGAGACT	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	50					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233409180	233409180	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233409180G>T	ENST00000389494.3	+	10	1160	c.1139G>T	c.(1138-1140)gGa>gTa	p.G380V	CHRNG_ENST00000389492.3_Missense_Mutation_p.G328V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	380					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GGCTCCTCGGGATGGTCGATC	0.667000													50	64					2.17126e-26	2.53927e-26	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526564	150526564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:150526564G>C	ENST00000271643.4	+	6	1333	c.1097G>C	c.(1096-1098)gGg>gCg	p.G366A	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G366A|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G366A|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G366A	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	366					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGATGTTCTGGGGAGAGTGAA	0.652000													12	46					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283465	159283465	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:159283465A>G	ENST00000332217.5	-	1	984	c.985T>C	c.(985-987)Tac>Cac	p.Y329H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAAATTAGTACATATTTATA	0.393000													32	66					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32930033	32930033	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:32930033A>G	ENST00000342179.5	+	7	827	c.612A>G	c.(610-612)agA>agG	p.R204R	DPY19L3_ENST00000586987.1_Silent_p.R204R|DPY19L3_ENST00000392250.2_Silent_p.R204R	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	204						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATACCACAAGAGTTGAGTTTA	0.393000													55	91					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75108948	75108948	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:75108948G>T	ENST00000290573.2	+	11	2281	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	HK2_ENST00000409174.1_Missense_Mutation_p.A533S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	561	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAAGATCTACGCCATCCCGCA	0.622000													11	11					0.000673444	0.000699814	1	1	0
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:91700960G>A	ENST00000531499.2	-	2	774	c.435C>T	c.(433-435)atC>atT	p.I145I	GPR68_ENST00000535815.1_Silent_p.I145I|GPR68_ENST00000238699.3_Silent_p.I155I			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.I155I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627000													9	32					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92181853	92181853	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92181853G>A	ENST00000212355.4	-	12	2271	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	TGFBR3_ENST00000370399.2_Silent_p.L601L|TGFBR3_ENST00000525962.1_Silent_p.L602L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	602	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCACCAAAAAGAGGTCAGTGT	0.502000													15	40					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953686	186953686	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186953686T>A	ENST00000296280.6	-	11	2198	c.1973A>T	c.(1972-1974)gAc>gTc	p.D658V	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.D545V|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	640	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAGGCACGTGTCTTTGCCGCC	0.577000													22	56					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54483176	54483176	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:54483176C>G	ENST00000270458.2	+	3	526	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	141					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TGCTGCTGCTCGGGGGTGTGT	0.637000													17	7					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156714072	156714072	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:156714072G>T	ENST00000347377.6	+	3	593	c.162G>T	c.(160-162)acG>acT	p.T54T	CYFIP2_ENST00000521420.1_Silent_p.T54T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.T54T|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Silent_p.T54T|CYFIP2_ENST00000318218.6_Silent_p.T54T	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	54					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTTGTCACGGGCATTGCAA	0.502000													3	29					2.56e-06	2.71754e-06	1	1	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													9	63					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224761	248224761	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:248224761C>T	ENST00000359959.3	+	1	778	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260C(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACTTATCTACGTCCAAGATC	0.488000													47	118					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52642496	52642496	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:52642496T>G	ENST00000331817.5	+	9	1545	c.1362T>G	c.(1360-1362)gcT>gcG	p.A454A	KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	454	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCTGAAGGCTTATTCCATCC	0.642000													17	31					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99020427	99020427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:99020427C>T	ENST00000376586.2	+	5	712	c.376C>T	c.(376-378)Caa>Taa	p.Q126*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.Q126*|FARP1_ENST00000319562.6_Nonsense_Mutation_p.Q126*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	126	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACCACACACAACTCCAAGA	0.373000													6	38					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282263	130282263	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:130282263C>T	ENST00000358511.6	+	2	447	c.416C>T	c.(415-417)gCt>gTt	p.A139V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A139V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	139	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGGTCCTGGCTTCATCTGAG	0.493000													33	38					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120531041	120531041	+	Missense_Mutation	SNP	C	C	T	rs138617238		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:120531041C>T	ENST00000527524.2	+	3	301	c.14C>T	c.(13-15)tCg>tTg	p.S5L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S5L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	5					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCCCGCGTCTCGGCGCCTTTG	0.647000											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	60					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98341692	98341692	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:98341692G>A	ENST00000264972.5	+	4	755	c.540G>A	c.(538-540)ggG>ggA	p.G180G	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.G54G	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	180	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTTACTCTGGGGCGCAGACCG	0.647000													6	43					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3957435	3957435	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3957435C>T	ENST00000381638.2	-	34	5474	c.5350G>A	c.(5350-5352)Gat>Aat	p.D1784N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1784							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCACACCCATCACAAGAGATG	0.438000													16	77					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217067	16217067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:16217067G>A	ENST00000339732.5	+	1	912	c.409G>A	c.(409-411)Gct>Act	p.A137T	GALNT15_ENST00000437509.1_Missense_Mutation_p.A137T|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGACTGGGGGGCTGATGAGGA	0.637000													14	55					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799891	130799891	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:130799891C>T	ENST00000509018.1	-	18	2528	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTACTTCTTTAGCTGTG	0.368000													23	30					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34494142	34494142	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:34494142G>C	ENST00000538621.1	+	2	305	c.60G>C	c.(58-60)tgG>tgC	p.W20C	PACSIN1_ENST00000244458.2_Missense_Mutation_p.W20C|PACSIN1_ENST00000374043.2_5'UTR|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	20	FCH.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACAGCTTCTGGGAGGTGAGGC	0.627000													8	26					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852355	144852355	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:144852355C>T	ENST00000369356.4	-	44	7378	c.7088G>A	c.(7087-7089)tGa>tAa	p.*2363*	PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000369354.3_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR	NM_001198834.2|NM_014644.4	NP_001185763|NP_055459.5	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGATGCTCCTCAGCAGATAGG	0.552000			T	PDGFRB	MPD								4	18					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378395	31378395	+	Missense_Mutation	SNP	T	T	C	rs138837893	by1000genomes	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31378395T>C	ENST00000449934.2	+	2	200	c.146T>C	c.(145-147)gTa>gCa	p.V49A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	49			V -> G (in allele MICA*041; dbSNP:rs17200158).		antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTTGCTGAGGTACATCTGGAT	0.542000													5	23					0	0	1	0	0
VIMP	55829	broad.mit.edu	37	15	101813019	101813019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:101813019C>T	ENST00000398226.3	-	6	559	c.527G>A	c.(526-528)tGg>tAg	p.W176*	VIMP_ENST00000526049.1_Nonsense_Mutation_p.W176*|VIMP_ENST00000531964.1_Nonsense_Mutation_p.W153*|VIMP_ENST00000537379.1_Nonsense_Mutation_p.W176*					VCP-interacting membrane protein																		TCCAGGTCTCCAGGAGCAAGC	0.478000													5	13					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49051011	49051011	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:49051011T>A	ENST00000395474.3	+	2	2414	c.2134T>A	c.(2134-2136)Tac>Aac	p.Y712N	WDR6_ENST00000608424.1_Missense_Mutation_p.Y682N|WDR6_ENST00000448293.1_Missense_Mutation_p.Y631N|WDR6_ENST00000415265.2_Missense_Mutation_p.Y130N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	682					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTCATGCTGTACAGGGCTCT	0.587000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	36					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109092306	109092306	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:109092306G>C	ENST00000309863.6	+	9	3774	c.3060G>C	c.(3058-3060)aaG>aaC	p.K1020N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1020					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCTATAAGGTAAAAAATA	0.318000													32	33					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233075041	233075041	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233075041A>G	ENST00000325385.7	+	10	1406	c.1130A>G	c.(1129-1131)gAc>gGc	p.D377G	DIS3L2_ENST00000409307.1_Missense_Mutation_p.D377G|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D377G	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	377							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCTAGAAAAGACTGTATCTTC	0.428000													41	39					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	67					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69113358	69113358	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:69113358G>C	ENST00000229179.4	+	14	1507	c.1175G>C	c.(1174-1176)gGa>gCa	p.G392A	NUP107_ENST00000539906.1_Splice_Site_p.G363A|NUP107_ENST00000378905.2_Splice_Site_p.G241A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATTTTATAGGAACAGAATTA	0.308000													12	34					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33460480	33460480	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:33460480C>T	ENST00000336431.5	-	1	183	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	47					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AAGGCGTCCTCGTCCTTGCGG	0.697000													6	20					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971556	34971556	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34971556C>T	ENST00000242315.3	+	2	343	c.261C>T	c.(259-261)ggC>ggT	p.G87G	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.G87G	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	87							calcium ion binding	p.G87G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ATGGGCGCGGCGTGGAGCCTG	0.617000													54	107					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458629	90458629	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:90458629A>G	ENST00000603238.1	+	2	305	c.305A>G	c.(304-306)gAt>gGt	p.D102G																								CAGCCTGAAGATTTTGCAACT	0.507000													51	653					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97342490	97342490	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:97342490A>G	ENST00000517309.1	+	11	1549	c.1223A>G	c.(1222-1224)cAc>cGc	p.H408R	PTDSS1_ENST00000455950.2_Missense_Mutation_p.H262R|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H205R	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	408					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TATGCAGAACACTATGGTCAC	0.463000													17	37					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159593615	159593615	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:159593615G>T	ENST00000511912.1	+	1	339	c.7G>T	c.(7-9)Gtg>Ttg	p.V3L	ETFDH_ENST00000510353.1_3'UTR|ETFDH_ENST00000307738.5_Missense_Mutation_p.V3L	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	3					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAACATGCTGGTGCCGCTAGC	0.652000											OREG0016379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	42					8.04996e-18	9.25745e-18	1	1	0
METTL16	79066	broad.mit.edu	37	17	2310456	2310456	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:2310456C>G	ENST00000609667.1	-	3	395	c.316G>C	c.(316-318)Gac>Cac	p.D106H																								GACAGTGGGTCAGAAGCTTGG	0.547000													17	16					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60654136	60654136	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:60654136G>C	ENST00000582809.1	+	14	1444	c.741G>C	c.(739-741)aaG>aaC	p.K247N	TLK2_ENST00000326270.9_Splice_Site_p.K418N|TLK2_ENST00000343388.7_Splice_Site_p.K364N|TLK2_ENST00000542523.1_Splice_Site_p.K364N|TLK2_ENST00000346027.5_Splice_Site_p.K396N			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	418					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTTAAAAAGGTAAGTATAA	0.343000													59	40					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100608841	100608841	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:100608841C>G	ENST00000319509.7	+	7	2220	c.2220C>G	c.(2218-2220)atC>atG	p.I740M	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAACGCCATCGACTGTCACC	0.642000													5	33					0	0	1	0	0
CCZ1B	221960	broad.mit.edu	37	7	6862992	6862992	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:6862992C>A	ENST00000316731.8	-	5	963		c.e5-1		CCZ1B_ENST00000538180.1_Splice_Site	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							lysosomal membrane											AAACCTTGTCCTGCAGACGCG	0.478000													5	37					1.06961e-07	1.14958e-07	1	1	0
KMT2E	55904	broad.mit.edu	37	7	104752743	104752743	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:104752743A>C	ENST00000334877.4	+	26	4948	c.4414A>C	c.(4414-4416)Act>Cct	p.T1472P	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.T1514P|KMT2E_ENST00000257745.4_Missense_Mutation_p.T1514P|KMT2E_ENST00000334914.7_Missense_Mutation_p.T569P					lysine (K)-specific methyltransferase 2E																		TCAGCAGGCAACTTCTGGAAC	0.473000													28	57					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													5	68					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4854733	4854733	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4854733G>A	ENST00000379333.1	-	11	1343	c.951C>T	c.(949-951)atC>atT	p.I317I	SLC23A2_ENST00000424750.2_Silent_p.I203I|SLC23A2_ENST00000338244.1_Silent_p.I317I|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	317					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGATGGCCAGGATGATCTGGA	0.552000													29	102					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3788651C>G	ENST00000262367.5	-	26	5112	c.4303G>C	c.(4303-4305)Gat>Cat	p.D1435H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1435	Cys/His-rich.				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.D1435Y(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)		TGAATACTATCCAGATAAGAA	0.433000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						12	19					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135275538	135275538	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:135275538C>G	ENST00000334270.2	-	3	1514	c.1475G>C	c.(1474-1476)gGt>gCt	p.G492A		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	492					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACGGCAGAACCCAAATCCGC	0.468000													32	105					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423127	44423127	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423127C>T	ENST00000372343.3	+	7	2108	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	482					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCATTGACGTCAACTATTCTG	0.562000													11	105					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971709	49971709	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49971709C>T	ENST00000293350.4	+	15	2173	c.2010C>T	c.(2008-2010)gaC>gaT	p.D670D	ALDH16A1_ENST00000455361.2_Silent_p.D619D|ALDH16A1_ENST00000433981.2_Silent_p.D505D|ALDH16A1_ENST00000540132.1_Silent_p.D507D|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGTGTCCGGACGAGTGGCCCC	0.701000													114	79					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123815916	123815916	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123815916C>T	ENST00000420886.2	-	7	915	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	SBNO1_ENST00000267176.4_Missense_Mutation_p.E305K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E305K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E306K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	306							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGGAAAGTTTCATGTTGCTGA	0.363000													21	45					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64299005	64299005	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:64299005G>A	ENST00000413366.3	+	1	62	c.36G>A	c.(34-36)gcG>gcA	p.A12A	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	12					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACTCCACGGCGTCTCAGGACG	0.677000													19	27					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:24024257T>C	ENST00000328046.8	-	3	809	c.554A>G	c.(553-555)gAt>gGt	p.D185G		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	185	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGATCATTATCCAAGTAAGA	0.478000													5	96					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761227	131761227	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:131761227G>C	ENST00000368648.3	-	3	406	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	EBF3_ENST00000355311.5_Missense_Mutation_p.L112V	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	112					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATAACTGGAGTTTATAGTGG	0.507000													21	67					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480630	59480630	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:59480630C>T	ENST00000307552.2	-	1	707	c.689G>A	c.(688-690)cGg>cAg	p.R230Q		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TTCTGCTGACCGGATCCGTAA	0.502000													36	66					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917268	89917268	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:89917268C>A	ENST00000548729.1	-	3	1352	c.1050G>T	c.(1048-1050)gaG>gaT	p.E350D	GALNT4_ENST00000413530.1_Missense_Mutation_p.E181D|GALNT4_ENST00000529983.2_Missense_Mutation_p.E353D|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ACGGGTGGATCTCCAATTTGC	0.522000													23	125					1.73308e-25	2.01998e-25	1	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957439	129957439	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:129957439G>A	ENST00000259351.5	+	12	1247	c.980G>A	c.(979-981)gGc>gAc	p.G327D	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G327D|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G327D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	327					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTGTTGCTGGCAGCCTCCCC	0.632000													27	83					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83324287	83324287	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:83324287T>C	ENST00000549919.1	+	5	3348	c.1543T>C	c.(1543-1545)Tac>Cac	p.Y515H	TMTC2_ENST00000321196.3_Missense_Mutation_p.Y521H|TMTC2_ENST00000548305.1_Missense_Mutation_p.Y521H			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	521						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAATGCTTTGTACTACCGCAG	0.418000													17	28					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87338533	87338533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:87338533A>T	ENST00000304053.6	+	7	1112	c.629A>T	c.(628-630)gAa>gTa	p.E210V	NTRK2_ENST00000395882.1_Missense_Mutation_p.E210V|NTRK2_ENST00000395866.2_Missense_Mutation_p.E54V|NTRK2_ENST00000376213.1_Missense_Mutation_p.E210V|NTRK2_ENST00000376208.1_Missense_Mutation_p.E210V|NTRK2_ENST00000376214.1_Missense_Mutation_p.E210V|NTRK2_ENST00000323115.4_Missense_Mutation_p.E210V|NTRK2_ENST00000277120.3_Missense_Mutation_p.E210V|NTRK2_ENST00000359847.3_Missense_Mutation_p.E210V	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	210	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACTGTGGAGGAAGGAAAGTCT	0.423000										TSP Lung(25;0.17)			26	92					0	0	1	0	0
C21orf58	54058	broad.mit.edu	37	21	47722421	47722421	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47722421T>G	ENST00000291691.7	-	7	1927	c.791A>C	c.(790-792)aAg>aCg	p.K264T	C21orf58_ENST00000397682.3_Missense_Mutation_p.K158T|C21orf58_ENST00000397683.1_Missense_Mutation_p.K158T|C21orf58_ENST00000397679.1_Missense_Mutation_p.K158T|C21orf58_ENST00000397680.1_Missense_Mutation_p.K158T|C21orf58_ENST00000472607.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	264										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GGGCAGGGCCTTGAGCATCCA	0.582000													9	11					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895489	45895489	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45895489G>A	ENST00000418234.2	-	8	1542	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	PPP1R13L_ENST00000360957.5_Silent_p.L488L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	488	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCGTGGGGCTGAGAGGCCTTG	0.672000													31	27					0	0	1	0	0
NRTN	4902	broad.mit.edu	37	19	5824219	5824219	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5824219A>G	ENST00000303212.2	+	1	407	c.43A>G	c.(43-45)Agc>Ggc	p.S15G		NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	15					axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity			large_intestine(1)	1						AGTGCTCTGCAGCTCCGTGCT	0.697000													6	17					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56033354	56033354	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:56033354G>A	ENST00000456986.1	+	21	2194	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	NEDD4L_ENST00000456173.2_Missense_Mutation_p.E512K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E645K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E532K|NEDD4L_ENST00000400345.3_Missense_Mutation_p.E653K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E512K|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E625K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E513K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E549K|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E589K|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E633K	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	653					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GATTGAGTTTGAATCAGAGAA	0.418000													12	13					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511813	4511813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:4511813C>A	ENST00000574733.1	-	6	1597	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	NMRAL1_ENST00000574425.1_Nonsense_Mutation_p.E290*|NMRAL1_ENST00000283429.6_Nonsense_Mutation_p.E290*|NMRAL1_ENST00000404295.3_Nonsense_Mutation_p.E290*			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	290						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TTGTGCTGTTCCAGCCACTGG	0.622000													46	81					5.20006e-24	6.04047e-24	1	1	0
TAGLN3	29114	broad.mit.edu	37	3	111718304	111718304	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:111718304G>A	ENST00000393917.2	+	2	587	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	TAGLN3_ENST00000273368.4_Missense_Mutation_p.R12Q|TAGLN3_ENST00000455401.2_Missense_Mutation_p.R12Q|TAGLN3_ENST00000478951.1_Missense_Mutation_p.R12Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	12					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GGCTTAAGCCGAGAGGTGCAG	0.587000													13	61					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	35					0	0	1	0	0
RPL36	25873	broad.mit.edu	37	19	5691448	5691448	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5691448A>C	ENST00000577222.1	+	5	756	c.212A>C	c.(211-213)aAa>aCa	p.K71T	RPL36_ENST00000347512.3_Missense_Mutation_p.K71T|RPL36_ENST00000394580.2_Missense_Mutation_p.K71T|RPL36_ENST00000579446.1_Missense_Mutation_p.K71T|RPL36_ENST00000579649.1_Missense_Mutation_p.K71T			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						CGGGCCCTCAAATTTATCAAG	0.647000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	67					0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13255242	13255242	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:13255242G>C	ENST00000587230.1	-	8	796	c.732C>G	c.(730-732)atC>atG	p.I244M	STX10_ENST00000343587.5_Missense_Mutation_p.I195M|STX10_ENST00000242770.5_3'UTR|STX10_ENST00000589083.1_3'UTR	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	244					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	p.I244M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAATAGTAAGATGAGAACGA	0.627000													7	10					0	0	1	0	0
ARF3	377	broad.mit.edu	37	12	49334730	49334730	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49334730C>G	ENST00000256682.4	-	2	483		c.e2+1		RP11-302B13.5_ENST00000398092.4_Splice_Site|ARF3_ENST00000541959.1_Splice_Site|ARF3_ENST00000447318.2_Splice_Site	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TGTGCTCTTACCAATGGTAGG	0.587000													56	66					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134143532	134143532	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:134143532A>C	ENST00000452510.2	+	16	2207	c.2049A>C	c.(2047-2049)ctA>ctC	p.L683L	DDX46_ENST00000354283.4_Silent_p.L683L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	683	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGAGGTCTAGATGTGAAAC	0.438000													22	37					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60560788	60560788	+	Missense_Mutation	SNP	C	C	T	rs139193189	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:60560788C>T	ENST00000373886.3	+	14	2001	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	BICC1_ENST00000263103.1_Missense_Mutation_p.T292M	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	666					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGCAAGGCACGAAAAACTCA	0.383000													13	54					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848597	83848597	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:83848597T>A	ENST00000349129.2	+	21	5096	c.4836T>A	c.(4834-4836)tcT>tcA	p.S1612S	DOPEY1_ENST00000237163.5_Silent_p.S1593S|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.S1603S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1612					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGTTGTATCTGACTTAGAAC	0.413000													31	47					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793484	186793484	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186793484C>T	ENST00000169298.3	+	8	1788	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	ST6GAL1_ENST00000448044.1_Silent_p.L372L|ST6GAL1_ENST00000457772.2_Silent_p.L141L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	372					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTACCACCCGCTGCTCTATGA	0.512000													6	76					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890047	6890047	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:6890047T>A	ENST00000419673.2	+	12	1437	c.1220T>A	c.(1219-1221)aTc>aAc	p.I407N	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I402N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I566N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I514N|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I407N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I407N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.I389N|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I566N	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	389					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GCCCACATCATCCGCCTAATG	0.443000													47	98					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628777	34628777	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:34628777G>A	ENST00000354181.3	-	2	597	c.105C>T	c.(103-105)ctC>ctT	p.L35L	SLC12A6_ENST00000458406.2_5'UTR|SLC12A6_ENST00000397702.2_5'UTR|SLC12A6_ENST00000558667.1_Silent_p.L35L|SLC12A6_ENST00000560611.1_Silent_p.L35L|SLC12A6_ENST00000558589.1_Silent_p.L26L|SLC12A6_ENST00000397707.2_Silent_p.L35L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	35					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ATCGAGAGCTGAGGTCCGGAC	0.527000													14	54					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62182381	62182381	+	Silent	SNP	G	G	A	rs113570828		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:62182381G>A	ENST00000261517.5	-	67	9397	c.9324C>T	c.(9322-9324)tcC>tcT	p.S3108S	VPS13C_ENST00000249837.3_Silent_p.S3065S|VPS13C_ENST00000395898.3_Silent_p.S3065S|VPS13C_ENST00000395896.4_Silent_p.S3108S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3108					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCCAATATAGGAAACTTCCT	0.373000													19	50					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484781	128484781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:128484781A>T	ENST00000325888.8	+	21	3523	c.3262A>T	c.(3262-3264)Aag>Tag	p.K1088*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.K1088*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1088					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCGACACCAAGGGGGCTGG	0.632000													19	54					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191797524	191797524	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:191797524A>C	ENST00000338435.4	+	15	1984	c.1733A>C	c.(1732-1734)gAg>gCg	p.E578A	GLS_ENST00000409428.1_Intron|GLS_ENST00000409215.1_Missense_Mutation_p.E83A|GLS_ENST00000409626.1_Missense_Mutation_p.E149A|GLS_ENST00000320717.3_Intron|GLS_ENST00000471443.1_3'UTR	NM_001256310.1	NP_001243239.1	O94925	GLSK_HUMAN	glutaminase	0					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGTCACCTGAGTCAAATGAG	0.368000													13	16					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273238	125273238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:125273238C>G	ENST00000335302.5	+	1	158	c.158C>G	c.(157-159)tCt>tGt	p.S53C		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CAGCTGGACTCTCACCTTCAC	0.557000													64	141					0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74970975	74970975	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:74970975C>G	ENST00000237937.3	-	6	1093	c.536G>C	c.(535-537)cGt>cCt	p.R179P	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.R179P|ZFAND5_ENST00000376960.4_Missense_Mutation_p.R179P|ZFAND5_ENST00000376962.5_Missense_Mutation_p.R179P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	179							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTCAGAGTAACGGTGAAGTCC	0.383000													23	51					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45767973	45767973	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45767973G>A	ENST00000300843.4	+	5	684	c.387G>A	c.(385-387)aaG>aaA	p.K129K	MARK4_ENST00000262891.4_Silent_p.K129K	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	129	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACTGAGAAGACGCTGTACC	0.577000													87	51					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63284996	63284996	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:63284996C>G	ENST00000317868.4	+	5	922	c.715C>G	c.(715-717)Cac>Gac	p.H239D	ATG4C_ENST00000371120.3_Missense_Mutation_p.H239D	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	239					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGTGGTTGCTCACATTTTAAG	0.363000													27	63					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44248600	44248600	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:44248600G>C	ENST00000262419.6	-	2	1380	c.910C>G	c.(910-912)Cgc>Ggc	p.R304G	KANSL1_ENST00000572904.1_Missense_Mutation_p.R304G|KANSL1_ENST00000432791.1_Missense_Mutation_p.R304G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.R304G|KANSL1_ENST00000575318.1_Missense_Mutation_p.R304G	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	304						MLL1 complex	protein binding										ACCTGTAAGCGCTTTTGTAAT	0.468000													23	143					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556105	57556105	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57556105G>T	ENST00000243077.3	+	14	2674	c.2208G>T	c.(2206-2208)gtG>gtT	p.V736V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	736					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTAGATTGTGTATGAAGGTC	0.488000													33	85					1.45844e-13	1.63364e-13	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119043391	119043391	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:119043391G>C	ENST00000334464.5	-	5	3092	c.2853C>G	c.(2851-2853)gtC>gtG	p.V951V		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	951					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGTTTTAGAGACTTGACGCA	0.433000													81	218					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19951251	19951251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:19951251G>C	ENST00000361682.6	+	4	834	c.452G>C	c.(451-453)cGg>cCg	p.R151P	COMT_ENST00000449653.1_Missense_Mutation_p.R101P|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000407537.1_Missense_Mutation_p.R101P|COMT_ENST00000406520.3_Missense_Mutation_p.R151P|COMT_ENST00000403184.1_Missense_Mutation_p.R151P|COMT_ENST00000403710.1_Missense_Mutation_p.R151P	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	151					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ATCACCCAGCGGATGGTGGAT	0.627000													22	19					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939069	38939069	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:38939069T>A	ENST00000355481.4	+	10	1006	c.875T>A	c.(874-876)cTc>cAc	p.L292H	RYR1_ENST00000360985.3_Missense_Mutation_p.L292H|RYR1_ENST00000359596.3_Missense_Mutation_p.L292H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	292	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCTAGCGCTCACCGAGGAC	0.647000													20	271					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939070	38939070	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:38939070C>A	ENST00000355481.4	+	10	1007	c.876C>A	c.(874-876)ctC>ctA	p.L292L	RYR1_ENST00000360985.3_Silent_p.L292L|RYR1_ENST00000359596.3_Silent_p.L292L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	292	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTAGCGCTCACCGAGGACC	0.647000													19	273					4.63292e-17	5.25776e-17	1	1	0
AHCYL2	23382	broad.mit.edu	37	7	129062699	129062699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129062699G>A	ENST00000325006.3	+	13	1534	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	AHCYL2_ENST00000446544.2_Missense_Mutation_p.E493K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E413K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E392K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E391K|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E391K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	494					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGGACACCAGAACTGACCTG	0.512000													15	57					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74754952	74754952	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74754952T>C	ENST00000377526.3	-	8	1061	c.752A>G	c.(751-753)gAa>gGa	p.E251G		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	317						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CTGGCCCAATTCCTTGGCCAC	0.567000													30	149					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789221	89789221	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:89789221G>C	ENST00000289816.5	+	2	575	c.263G>C	c.(262-264)gGt>gCt	p.G88A	ZNF276_ENST00000443381.2_Missense_Mutation_p.G163A|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88A	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCCCCGGCTGGTCGCCGGAAG	0.592000													17	59					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56181840	56181840	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:56181840G>A	ENST00000399503.3	+	17	4064	c.4064G>A	c.(4063-4065)cGt>cAt	p.R1355H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1355	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGTTACTCCGTGGCCTTTCG	0.338000													25	43					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37427047	37427047	+	Splice_Site	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:37427047A>T	ENST00000264658.6	-	11	1149		c.e11+1		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20							cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GAAAATACTTACCCTGGCTAG	0.358000													17	17					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137804955	137804955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:137804955C>T	ENST00000371806.3	-	6	466	c.375G>A	c.(373-375)ggG>ggA	p.G125G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	125	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCAGGAAATACCCCCGGTCTA	0.677000													10	12					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47330884	47330884	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47330884C>T	ENST00000400314.1	+	9	878	c.540C>T	c.(538-540)atC>atT	p.I180I	PCBP3_ENST00000449640.1_Silent_p.I180I|PCBP3_ENST00000400310.1_Silent_p.I180I|PCBP3_ENST00000400308.1_Silent_p.I180I|PCBP3_ENST00000400304.1_Silent_p.I148I|PCBP3_ENST00000400309.1_Silent_p.I180I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	180	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGGTGACCATCTCGGGGACCC	0.642000													19	23					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734142	28734142	+	RNA	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:28734142C>T	ENST00000550043.1	+	0	547																											AAAATATTCCCCCCAAGGAGT	0.473000													21	64					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4837513	4837513	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:4837513C>T	ENST00000329125.5	+	2	1689	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	538										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCTTGGGTCTCTTCTGGCTGC	0.582000													19	63					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67860668	67860668	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:67860668G>A	ENST00000255674.6	-	8	1149	c.863C>T	c.(862-864)tCt>tTt	p.S288F	RTTN_ENST00000437017.1_Missense_Mutation_p.S288F|RTTN_ENST00000454359.1_Missense_Mutation_p.S288F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	288							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATAAGACAAAGAAGAATTTTG	0.418000													14	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577079	7577079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:7577079C>A	ENST00000420246.2	-	8	991	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E287*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E287*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E287*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E287*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGAGATTCTCTTCCTCTGTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	21					3.62473e-10	3.95738e-10	1	1	0
CDH16	1014	broad.mit.edu	37	16	66944399	66944399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:66944399G>C	ENST00000299752.4	-	15	2124	c.1931C>G	c.(1930-1932)cCg>cGg	p.P644R	CDH16_ENST00000570262.1_Missense_Mutation_p.P564R|CDH16_ENST00000394055.3_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.P547R|CDH16_ENST00000565796.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTCAGTCTCGGCTCATCTGC	0.652000													26	48					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87563566	87563566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:87563566G>C	ENST00000370550.5	+	5	997	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	HS2ST1_ENST00000370551.4_Missense_Mutation_p.E212Q|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E186Q|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E186Q	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	212						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTGTGCTCCAGAGAAGCTCTG	0.458000													30	64					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107713306	107713306	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:107713306G>T	ENST00000280758.5	+	1	1117	c.589G>T	c.(589-591)Gac>Tac	p.D197Y	BTBD11_ENST00000490090.2_Missense_Mutation_p.D197Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.D197Y	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	197						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCCGGCGGCGACCGCCTGGG	0.721000													3	4					0.004672	0.00476876	1	1	0
XIAP	331	broad.mit.edu	37	X	123040977	123040977	+	Silent	SNP	G	G	A	rs61757634		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123040977G>A	ENST00000371199.3	+	7	1739	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Silent_p.K480K|XIAP_ENST00000434753.3_Silent_p.K480K	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	480					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CAGTTGACAAGTGTCCCATGT	0.343000									X-linked Lymphoproliferative syndrome				41	22					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450778	85450778	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:85450778A>T	ENST00000393217.2	+	8	2268	c.2207A>T	c.(2206-2208)tAt>tTt	p.Y736F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	736										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCCTTCTATATTCTATTGAA	0.333000													72	263					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018629	88018629	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:88018629G>C	ENST00000504921.2	-	10	1886	c.1214C>G	c.(1213-1215)cCt>cGt	p.P405R	MEF2C_ENST00000437473.2_Missense_Mutation_p.P405R|MEF2C_ENST00000514015.1_Missense_Mutation_p.P373R|MEF2C_ENST00000424173.2_Missense_Mutation_p.P395R|MEF2C_ENST00000510942.1_Missense_Mutation_p.P397R|MEF2C_ENST00000508569.1_Missense_Mutation_p.P365R|MEF2C_ENST00000340208.5_Missense_Mutation_p.P415R|MEF2C_ENST00000539796.1_Missense_Mutation_p.P349R|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Missense_Mutation_p.P405R|MEF2C_ENST00000506554.1_Missense_Mutation_p.L381V			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	405					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTATCTCGAAGGGGTGGTGGT	0.532000										HNSCC(66;0.2)			14	31					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423149	44423149	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423149G>T	ENST00000372343.3	+	7	2130	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	490					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.G490W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGGTGCCTGGGCTCATTGG	0.562000													12	116					3.62473e-10	3.95738e-10	1	1	0
ZNF529	57711	broad.mit.edu	37	19	37045699	37045699	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:37045699C>A	ENST00000334116.7	-	4	303		c.e4-1		ZNF529_ENST00000591340.1_Splice_Site	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCACCAGTTCCTGAAACAACA	0.413000													4	7					0.000602214	0.000627686	1	1	0
COCH	1690	broad.mit.edu	37	14	31355167	31355167	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:31355167A>T	ENST00000460581.2	+	9	1336	c.790A>T	c.(790-792)Agc>Tgc	p.S264C	COCH_ENST00000382493.4_Missense_Mutation_p.S227C|COCH_ENST00000216361.4_Missense_Mutation_p.S376C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Missense_Mutation_p.S376C|COCH_ENST00000475087.1_Missense_Mutation_p.S376C			O43405	COCH_HUMAN	cochlin	376	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGATGGCTCCAGCAGTGTTGG	0.438000													32	64					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254792	10254792	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:10254792A>T	ENST00000280326.4	+	3	593	c.173A>T	c.(172-174)gAt>gTt	p.D58V	CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.D20V|CCT5_ENST00000503026.1_Missense_Mutation_p.D37V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	58					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTAGGGCTTGATAAGATGATG	0.418000													19	74					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180217	34180217	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:34180217T>A	ENST00000262622.4	+	2	808	c.50T>A	c.(49-51)aTc>aAc	p.I17N	CHST8_ENST00000438847.3_Missense_Mutation_p.I17N|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.I17N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCTCTTCCATCCTGCTGTTC	0.647000													27	134					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46705699	46705699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:46705699G>A	ENST00000299138.7	-	12	1500	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	481					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAATCTTCTGGATCAGGGTC	0.483000													16	33					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176434	176434	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:176434G>A	ENST00000538872.1	+	1	504	c.386G>A	c.(385-387)gGc>gAc	p.G129D	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G129D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	129					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGGGCCCTGGCAGCAGGGCT	0.711000													3	15					0	0	1	0	0
C11orf45	219833	broad.mit.edu	37	11	128773387	128773387	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:128773387C>A	ENST00000310799.3	-	3	349	c.156G>T	c.(154-156)agG>agT	p.R52S	C11orf45_ENST00000524878.1_Missense_Mutation_p.R52S|C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	52						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TACCCTCACTCCTGACAGAGG	0.507000													6	42					0.00198382	0.00203696	1	1	0
NUDT14	256281	broad.mit.edu	37	14	105642983	105642983	+	Missense_Mutation	SNP	C	C	G	rs138979378		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:105642983C>G	ENST00000392568.2	-	4	409	c.316G>C	c.(316-318)Ggc>Cgc	p.G106R	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	106	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCACGAGGCCGGCACACAGC	0.677000										HNSCC(42;0.11)			19	60					0	0	1	0	0
RNASE7	84659	broad.mit.edu	37	14	21511342	21511342	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:21511342G>T	ENST00000298690.4	+	2	448	c.191G>T	c.(190-192)cGg>cTg	p.R64L	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	64					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACACAAAACGGTGCAAAGAC	0.502000													25	80					6.32553e-13	7.01707e-13	1	1	0
PTBP2	58155	broad.mit.edu	37	1	97236333	97236333	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:97236333C>G	ENST00000609116.1	+	5	440	c.358C>G	c.(358-360)Cat>Gat	p.H120D	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.H120D|PTBP2_ENST00000394184.3_Missense_Mutation_p.H131D|PTBP2_ENST00000370198.1_Missense_Mutation_p.H120D|PTBP2_ENST00000541987.1_Missense_Mutation_p.H89D|PTBP2_ENST00000426398.2_Missense_Mutation_p.H120D			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTGACACCTCATCTTCGTAA	0.328000													34	71					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000223	14000223	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:14000223C>G	ENST00000454313.1	-	6	1504	c.1446G>C	c.(1444-1446)gtG>gtC	p.V482V	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V482V|C19orf57_ENST00000586783.1_Silent_p.V482V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	482					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGTGTTCCAGCACAACAGAGG	0.622000													25	71					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30098274	30098274	+	Silent	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:30098274T>C	ENST00000331968.5	-	11	1927	c.1698A>G	c.(1696-1698)gtA>gtG	p.V566V	PRKD1_ENST00000415220.2_Silent_p.V574V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	566					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCAATTTGATACTGAAATAC	0.303000													24	62					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249821	140249821	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:140249821C>G	ENST00000398640.2	+	1	1133	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1												p.S378L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTGACTCAGGTGTCAAC	0.587000													18	72					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827178	96827178	+	Missense_Mutation	SNP	T	T	C	rs2275622	by1000genomes	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:96827178T>C	ENST00000539050.1	-	2	571	c.10A>G	c.(10-12)Aag>Gag	p.K4E	CYP2C8_ENST00000371270.3_Intron|CYP2C8_ENST00000535898.1_Intron			P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	163					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTGCAACACTTGGCAGCCATG	0.458000													4	71					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128777	161128777	+	Nonstop_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:161128777T>A	ENST00000523217.1	+	9	1572	c.1330T>A	c.(1330-1332)Tag>Aag	p.*444K	GABRA6_ENST00000274545.5_Nonstop_Mutation_p.*454K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	0					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTGTTGAATAGCTTGCGGC	0.383000										TCGA Ovarian(5;0.080)			14	68					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726188	69726188	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:69726188A>C	ENST00000349945.1	+	14	3730	c.2178A>C	c.(2176-2178)ttA>ttC	p.L726F	NFAT5_ENST00000566899.1_Missense_Mutation_p.L726F|NFAT5_ENST00000393742.2_Missense_Mutation_p.L726F|NFAT5_ENST00000567239.1_Missense_Mutation_p.L819F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L820F|NFAT5_ENST00000354436.2_Missense_Mutation_p.L802F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	802					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACAAGTTTTAGAGGCACAGC	0.438000													29	119					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167339439	167339439	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167339439T>G	ENST00000367862.5	+	4	472	c.237T>G	c.(235-237)tcT>tcG	p.S79S	POU2F1_ENST00000541643.3_Silent_p.S67S|POU2F1_ENST00000420254.3_Silent_p.S67S|POU2F1_ENST00000367866.2_Silent_p.S90S|POU2F1_ENST00000452019.1_Silent_p.S67S|POU2F1_ENST00000429375.2_Silent_p.S90S|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	67					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTGCTCAGTCTTTAAATGTAC	0.358000													28	134					0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63541870	63541870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63541870G>A	ENST00000321437.4	+	3	368	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	RAB8B_ENST00000448330.2_Missense_Mutation_p.R71Q	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GAAAGATTCCGAACAATCACG	0.448000													9	25					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961258	73961258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:73961258G>C	ENST00000055682.6	-	3	3745	c.3134C>G	c.(3133-3135)cCa>cGa	p.P1045R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCCTTTAGTGGTGCTATCTC	0.502000													38	21					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30010801	30010801	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:30010801C>A	ENST00000346128.6	-	21	4019	c.3545G>T	c.(3544-3546)gGg>gTg	p.G1182V	TJP1_ENST00000356107.6_Missense_Mutation_p.G1182V|TJP1_ENST00000400011.2_Missense_Mutation_p.G1106V|TJP1_ENST00000545208.2_Missense_Mutation_p.G1102V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1182					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.H1178fs*10(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGCTTGGGCCCTGCTGAAGG	0.557000													23	66					7.87624e-14	8.85115e-14	1	1	0
PAK4	10298	broad.mit.edu	37	19	39660239	39660239	+	Missense_Mutation	SNP	A	A	C	rs66579155		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:39660239A>C	ENST00000599386.1	+	3	227	c.46A>C	c.(46-48)Aac>Cac	p.N16H	PAK4_ENST00000599470.1_Missense_Mutation_p.N16H|PAK4_ENST00000435673.2_Missense_Mutation_p.N16H|PAK4_ENST00000593690.1_Missense_Mutation_p.N16H|PAK4_ENST00000360442.3_Missense_Mutation_p.N16H|PAK4_ENST00000321944.4_Missense_Mutation_p.N16H|PAK4_ENST00000358301.3_Missense_Mutation_p.N16H	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	16	CRIB.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCGCCGTCCAACTTCGAGCA	0.667000													52	91					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248648	1248648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1248648C>T	ENST00000348261.5	+	6	925	c.677C>T	c.(676-678)aCg>aTg	p.T226M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.T226M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T226M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	226					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ctgctggatacgctgcccatg	0.632000													40	70					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236767261	236767261	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:236767261G>T	ENST00000366582.3	-	2	249	c.135C>A	c.(133-135)ttC>ttA	p.F45L	HEATR1_ENST00000366579.1_Missense_Mutation_p.F45L|HEATR1_ENST00000366581.2_Missense_Mutation_p.F45L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	45					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCAATGGCGAAGGCGGTGT	0.443000													20	29					7.45023e-12	8.21191e-12	1	1	0
DCAF6	55827	broad.mit.edu	37	1	167921068	167921068	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167921068T>G	ENST00000367840.3	+	2	222	c.128T>G	c.(127-129)cTt>cGt	p.L43R	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.L43R|DCAF6_ENST00000312263.6_Missense_Mutation_p.L43R|DCAF6_ENST00000432587.2_Missense_Mutation_p.L43R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	43					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATTAAAACTTGAAGCAACC	0.289000													55	32					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10400738	10400738	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:10400738C>G	ENST00000379613.3	-	6	1230	c.974G>C	c.(973-975)cGa>cCa	p.R325P	TFAP2A_ENST00000319516.4_Missense_Mutation_p.R319P|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R323P|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R323P|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R317P|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	323	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGAATGTTGTCGGTTGAGAAA	0.488000													24	62					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109416577	109416577	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:109416577C>A	ENST00000372073.1	+	7	1128	c.792C>A	c.(790-792)acC>acA	p.T264T	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Silent_p.T225T|TMEM164_ENST00000372068.2_Silent_p.T264T|TMEM164_ENST00000372072.3_Silent_p.T115T			Q5U3C3	TM164_HUMAN	transmembrane protein 164	264						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCTCATGACCATGACCCACG	0.532000													44	29					6.68952e-21	7.71868e-21	1	1	0
FAM178A	55719	broad.mit.edu	37	10	102676648	102676648	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102676648G>C	ENST00000238961.4	+	3	1048	c.506G>C	c.(505-507)cGa>cCa	p.R169P	FAM178A_ENST00000370271.3_Missense_Mutation_p.R169P|FAM178A_ENST00000370269.3_Missense_Mutation_p.R169P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAAAAACATCGATCCCCAGAG	0.383000													29	59					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733543	31733543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31733543C>T	ENST00000375688.4	-	17	2704	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q	VWA7_ENST00000375686.3_Silent_p.P844P			Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	835						extracellular region		p.R835Q(1)									GGTGGTGTGCCGGTCCTGTGG	0.597000													3	34					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181485	18181485	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18181485G>A	ENST00000321105.5	-	18	2545	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	TOP3A_ENST00000542570.1_Silent_p.N682N|TOP3A_ENST00000540524.1_Silent_p.N307N	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	777					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGTGCTGGCTGTTGTCCATCC	0.632000													20	92					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750750	79750750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:79750750C>T	ENST00000305428.3	+	2	2336	c.2261C>T	c.(2260-2262)cCa>cTa	p.P754L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	754						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GACACAGGCCCAGGAGATAAT	0.453000													17	63					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14146709	14146709	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14146709T>C	ENST00000380959.3	-	6	1377	c.904A>G	c.(904-906)Aca>Gca	p.T302A	NFIB_ENST00000397575.3_Missense_Mutation_p.T302A|NFIB_ENST00000397581.2_Missense_Mutation_p.T302A|NFIB_ENST00000380924.1_Missense_Mutation_p.T50A|NFIB_ENST00000380934.4_Missense_Mutation_p.T328A|NFIB_ENST00000543693.1_Missense_Mutation_p.T50A|NFIB_ENST00000380953.1_Missense_Mutation_p.T302A|NFIB_ENST00000397579.2_Missense_Mutation_p.T302A	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	302					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCGTGCCATGTTCGACTTCCA	0.418000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								32	76					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3794940	3794940	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:3794940T>G	ENST00000324932.7	-	6	945	c.525A>C	c.(523-525)aaA>aaC	p.K175N	NUP98_ENST00000397007.4_Missense_Mutation_p.K175N|NUP98_ENST00000397004.4_Missense_Mutation_p.K175N|NUP98_ENST00000355260.3_Missense_Mutation_p.K175N|NUP98_ENST00000359171.4_Missense_Mutation_p.K175N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	175	Gly/Thr-rich.				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)		TAACTCCAGCTTTGACCATAG	0.368000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								11	23					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													3	5	---	---	---	---					
MTHFD2	10797	broad.mit.edu	37	2	74432891	74432897	+	Frame_Shift_Del	DEL	GGCAGGA	GGCAGGA	-	rs6758485		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74432891_74432897delGGCAGGA	ENST00000394053.2	+	2	241_247	c.161_167delGGCAGGA	c.(160-168)cggcaggagfs	p.RQE54fs	MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Frame_Shift_Del_p.RQE54fs|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Frame_Shift_Del_p.RQE54fs|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	54					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGGAAGTGCGGCAGGAGGTAGAAGAG	0.498													30	42	---	---	---	---					
EIF4A2	1974	broad.mit.edu	37	3	186503971	186503974	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186503971_186503974delTGTT	ENST00000323963.5	+	6	600_603	c.536_539delTGTT	c.(535-540)atgtttfs	p.MF179fs	EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.MF84fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.MF180fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	179	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGATCAAAATGTTTGTTTTGGAT	0.319			T	BCL6	NHL								40	46	---	---	---	---					
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877753	+	RNA	DEL	A	A	-	rs33952764		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:99877753delA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaa	0.448													3	3	---	---	---	---					
MARK2	2011	broad.mit.edu	37	11	63663087	63663089	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:63663087_63663089delCTC	ENST00000402010.2	+	3	849_851	c.270_272delCTC	c.(268-273)aactcc>aac	p.S93del	MARK2_ENST00000408948.3_In_Frame_Del_p.S60del|MARK2_ENST00000377809.4_In_Frame_Del_p.S93del|MARK2_ENST00000508192.1_In_Frame_Del_p.S93del|MARK2_ENST00000350490.7_In_Frame_Del_p.S93del|MARK2_ENST00000377810.3_In_Frame_Del_p.S60del|MARK2_ENST00000413835.2_In_Frame_Del_p.S93del|MARK2_ENST00000513765.2_In_Frame_Del_p.S60del|MARK2_ENST00000502399.3_In_Frame_Del_p.S93del|MARK2_ENST00000361128.5_In_Frame_Del_p.S93del|MARK2_ENST00000509502.2_In_Frame_Del_p.S60del|MARK2_ENST00000425897.2_In_Frame_Del_p.S60del|MARK2_ENST00000315032.8_In_Frame_Del_p.S93del	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	93	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.N57K(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCAACTGAACTCCTCCAGCCTC	0.443													29	173	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112332120	112332121	+	RNA	INS	-	-	T	rs111710457		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376													2	4	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													8	430	---	---	---	---					
KIAA1551	55196	broad.mit.edu	37	12	32138036	32138037	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:32138036_32138037insTA	ENST00000312561.4	+	4	4561_4562	c.4147_4148insTA	c.(4147-4149)ttafs	p.L1383fs	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		AGGGAACGTATTAGATATGGAA	0.347													11	66	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49424468	49424475	+	Frame_Shift_Del	DEL	GACTGGGC	GACTGGGC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49424468_49424475delGACTGGGC	ENST00000301067.7	-	41	13747_13754	c.13748_13755delGCCCAGTC	c.(13747-13755)tgcccagtcfs	p.CPV4583fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGCCCATTGACTGGGCAGCCACTGCC	0.577													10	29	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039151	49039160	+	Frame_Shift_Del	DEL	GATCAAAGAA	GATCAAAGAA	-	rs3092905		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039151_49039160delGATCAAAGAA	ENST00000267163.4	+	22	2367_2376	c.2229_2238delGATCAAAGAA	c.(2227-2238)ttgatcaaagaafs	p.LIKE743fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	743	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.K745I(1)|p.L743fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACGTGTTTTGATCAAAGAAGAGGAGTATG	0.286		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	39	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061854	38061862	+	In_Frame_Del	DEL	GTTCATGGA	GTTCATGGA	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:38061854_38061862delGTTCATGGA	ENST00000250448.2	-	2	188_196	c.127_135delTCCATGAAC	c.(127-135)tccatgaacdel	p.SMN43del	FOXA1_ENST00000540786.1_In_Frame_Del_p.SMN10del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	43					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGTAGGTGTTCATGGAGTTCATGGAG	0.608													21	89	---	---	---	---					
CORO1A	11151	broad.mit.edu	37	16	30198259	30198260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:30198259_30198260insT	ENST00000219150.5	+	4	749_750	c.444_445insT	c.(445-447)agtfs	p.S149fs	CORO1A_ENST00000565497.1_Frame_Shift_Ins_p.S149fs|CORO1A_ENST00000570045.1_Frame_Shift_Ins_p.S149fs	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	149					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACGTGCTGCTCAGTGCAGGTGC	0.673													11	42	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58577316	58577316	+	Frame_Shift_Del	DEL	A	A	-	rs34615461		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:58577316delA	ENST00000441024.2	-	31	4913	c.4629delT	c.(4627-4629)tttfs	p.F1543fs	CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000317147.5_Intron	NM_206999.2	NP_996882.1	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	0					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aatataacagaaaaaaaaaaa	0.279													3	6	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80789041	80789042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:80789041_80789042insA	ENST00000269394.3	-	2	2122_2123	c.1289_1290insT	c.(1288-1290)ctgfs	p.L430fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.L31fs|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	430						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGAGGTCGTACAGGCCTTCGCA	0.624													24	86	---	---	---	---					
EPB41L3	23136	broad.mit.edu	37	18	5406924	5406928	+	Frame_Shift_Del	DEL	TTGGT	TTGGT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:5406924_5406928delTTGGT	ENST00000341928.2	-	16	2537_2541	c.2197_2201delACCAA	c.(2197-2202)accaacfs	p.TN733fs	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.TN5fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.TN552fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.TN733fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.TN552fs|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.TN5fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.TN564fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	733	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCGCTAATGTTGGTTTGATGTTTC	0.429													31	100	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44732894	44732895	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:44732894_44732895delGA	ENST00000377967.4	+	1	138_139	c.97_98delGA	c.(97-99)gagfs	p.E33fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E33fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E33fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E33fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	33					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCGAGCGGCGAGAGCGAGGAG	0.688			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								2	4	---	---	---	---					
TSPYL2	64061	broad.mit.edu	37	X	53111922	53111923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:53111922_53111923insG	ENST00000375442.4	+	1	374_375	c.242_243insG	c.(241-246)gaggggfs	p.EG81fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	81					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATTCTCGAGGAGGGGGGGATCC	0.693													5	4	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70339253	70339258	+	In_Frame_Del	DEL	GGTTTC	GGTTTC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:70339253_70339258delGGTTTC	ENST00000333646.6	+	2	329_334	c.130_135delGGTTTC	c.(130-135)ggtttcdel	p.GF44del	MED12_ENST00000374080.3_In_Frame_Del_p.GF44del|MED12_ENST00000374102.1_In_Frame_Del_p.GF44del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G44D(105)|p.G44S(37)|p.G44R(34)|p.G44V(28)|p.G44C(21)|p.G44A(17)|p.?(6)|p.K42_N46del(3)|p.L39_N47del(2)|p.F45_A50del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.F45_Q48del(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTAAAACAAGGTTTCAATAACCAGC	0.519			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	3	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123179177	123179178	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123179177_123179178delAC	ENST00000371160.1	+	8	916_917	c.626_627delAC	c.(625-627)gacfs	p.D209fs	STAG2_ENST00000218089.9_Frame_Shift_Del_p.D209fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.D209fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D209fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D209fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D140fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	209					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGATTGTCTGACTCACAAGTCA	0.361													111	65	---	---	---	---