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
ZAN	7455	broad.mit.edu	37	7	100349994	100349994	+	Missense_Mutation	SNP	C	C	A	rs221829		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:100349994C>A	uc003uwj.3	+	13	2431	c.2266C>A	c.(2266-2268)Cca>Aca	p.P756T	ZAN_uc003uwk.3_Missense_Mutation_p.P756T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	756	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P756T(13)|p.S755P(3)|p.P756Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.517000													6	152					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56373517	56373517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56373517C>T	uc003pcy.4	-	55	11288	c.11180G>A	c.(11179-11181)tGg>tAg	p.W3727*		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6139					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			TATGTTCTCCCAAATGAAAAC	0.438000													25	67					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:1560431G>A	uc001agg.3	+	5	977	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	MIB2_uc001agh.3_Missense_Mutation_p.R297Q|MIB2_uc001agi.3_Missense_Mutation_p.R311Q|MIB2_uc001agj.3_Missense_Mutation_p.R95Q|MIB2_uc001agk.3_Intron|MIB2_uc001agl.2_Missense_Mutation_p.R210Q|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Missense_Mutation_p.R210Q|MIB2_uc009vkh.3_Missense_Mutation_p.R95Q|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	254					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657000													4	140					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917543	39917543	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:39917543A>G	uc003axz.3	+	1	373	c.93A>G	c.(91-93)ctA>ctG	p.L31L	ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.3_Silent_p.L31L|ATF4_uc021wpy.1_5'Flank|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	31					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAGAAAGCCTAGGTCTCTTAG	0.572000													32	97					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758020	77758020	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:77758020A>G	uc002jxc.3	+	4	836	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	260					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGCACTACATGAACCGGAT	0.657000													5	108					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38960079	38960079	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:38960079C>T	uc002oit.3	+	26	3821	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	RYR1_uc002oiu.3_Missense_Mutation_p.R1231C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1231	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	CAACATGCAGCGCCCAGTCAC	0.577000													8	216					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000209	47000209	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:47000209C>T	uc001jec.3	+	2	1464	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GPRIN2_uc021ppt.1_Silent_p.S443S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	443										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCATGCAGTCCCTGCGGCGCC	0.706000													3	20					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772975	6772975	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:6772975C>A	uc002mfu.1	+	0	254	c.157C>A	c.(157-159)Cat>Aat	p.H53N	VAV1_uc010xjh.1_Missense_Mutation_p.H53N|VAV1_uc010dva.1_Missense_Mutation_p.H53N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	53	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657000													5	161					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878305	5878305	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:5878305A>G	uc010qzr.2	-	0	628	c.628T>C	c.(628-630)Tct>Cct	p.S210P	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAAGAGAGATATGTTGCCA	0.478000													5	106					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563340	140563340	+	Silent	SNP	C	C	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:140563340C>A	uc003liv.3	+	0	2361	c.1206C>A	c.(1204-1206)acC>acA	p.T402T		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	402	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCTTGGTAACGG	0.473000													21	91					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448817	39448817	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448817A>T	uc003gua.3	+	3	2568	c.2471A>T	c.(2470-2472)aAc>aTc	p.N824I	KLB_uc011byj.2_Missense_Mutation_p.N815I	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCGCGCTCAACCACTTCACC	0.657000													9	89					0	0	1	0	0
PLAC8	51316	broad.mit.edu	37	4	84015882	84015882	+	Silent	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:84015882G>T	uc003hoe.3	-	3	467	c.306C>A	c.(304-306)atC>atA	p.I102I	PLAC8_uc011cco.2_Silent_p.I102I|PLAC8_uc010ijy.3_Non-coding_Transcript|PLAC8_uc010ijz.3_Non-coding_Transcript|PLAC8_uc003hod.2_Silent_p.I102I	NM_001130716	NP_057703	Q9NZF1	PLAC8_HUMAN	Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA.	102										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TATCTCTCTTGATTTGGCAAA	0.353000													5	44					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715127	40715127	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:40715127G>A	uc002ona.3	+	6	1840	c.1552_splice	c.e6+1	p.L518_splice		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	518					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCATTCGCCGTGAGTATCTC	0.552000													4	98					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023064	18023064	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:18023064C>T	uc021trm.1	+	0	1169	c.950C>T	c.(949-951)gCg>gTg	p.A317V	MYO15A_uc021trl.1_Missense_Mutation_p.A317V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	317	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.A317A(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCATATGCGCCCCCGTCG	0.602000													4	138					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261374	6261374	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:6261374T>G	uc001mco.3	+	3	465	c.350T>G	c.(349-351)tTg>tGg	p.L117W	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.L77W	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	117					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTCTTCTTGGACCTGGCT	0.632000													97	238					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148544345	148544345	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:148544345G>A	uc003wfd.2	-	1	239	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	EZH2_uc022aov.1_Missense_Mutation_p.R16W|EZH2_uc011kug.2_Missense_Mutation_p.R16W|EZH2_uc003wfb.2_Missense_Mutation_p.R16W|EZH2_uc003wfc.2_Missense_Mutation_p.R16W|EZH2_uc011kuh.2_Missense_Mutation_p.R16W|EZH2_uc011kui.2_Missense_Mutation_p.R16W|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	16	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACGCTTCCGCCAACAAACT	0.388000			Mis		DLBCL								5	351					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:4832521G>A	uc001alm.1	+	3	1480	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	AJAP1_uc001aln.3_Missense_Mutation_p.V367M	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	367	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587000													5	56					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10474068	10474068	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:10474068G>T	uc003wtc.3	-	2	868	c.639C>A	c.(637-639)agC>agA	p.S213R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	213					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACAGAGGGGCTGTGCAGCA	0.632000													14	45					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:158716310G>A	uc003woe.4	+	16	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Missense_Mutation_p.G347R	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	715										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502000													4	159					0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52655349	52655349	+	RNA	SNP	T	T	A	rs34990448	by1000genomes	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:52655349T>A	uc011moa.1	+	3		c.476T>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TAGGTTTCAATGTCACCCTCC	0.468000													4	96					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109715	145109715	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:145109715C>T	uc003zar.3	-	18	2593	c.2511_splice	c.e18+1	p.P837_splice	OPLAH_uc003zas.1_Silent_p.P86P	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	837							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACCCCTCACCGGTGTGATAA	0.672000													14	52					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43727084	43727084	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:43727084A>T	uc002xnc.3	-	3	726	c.329T>A	c.(328-330)tTc>tAc	p.F110Y	KCNS1_uc002xnd.3_Missense_Mutation_p.F110Y	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	110						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCTCAGGAAGAAGCCCGGGTG	0.692000													5	13					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307910	117307910	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:117307910G>A	uc001prh.1	-	25	4830	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1550					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCTCATGCGCAGCTCGTAC	0.647000													4	198					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448818	39448818	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448818C>T	uc003gua.3	+	3	2569	c.2472C>T	c.(2470-2472)aaC>aaT	p.N824N	KLB_uc011byj.2_Silent_p.N815N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCGCGCTCAACCACTTCACCA	0.652000													10	89					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:47696688T>C	uc002ipg.3	-	3	557	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_uc010dbk.3_Missense_Mutation_p.Y87C|SPOP_uc002ipb.3_Missense_Mutation_p.Y87C|SPOP_uc002ipc.3_Missense_Mutation_p.Y87C|SPOP_uc002ipd.3_Missense_Mutation_p.Y87C|SPOP_uc002ipe.3_Missense_Mutation_p.Y87C|SPOP_uc002ipf.3_Missense_Mutation_p.Y87C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(4)|p.Y87S(4)|p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403000										Prostate(2;0.17)			20	60					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442593	20442593	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:20442593G>A	uc002dhe.3	+	9	1405	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	420					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGGGAATGTTGCCGTCCGTAT	0.512000													9	162					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843951	40843951	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:40843951G>T	uc002iay.3	+	15	2688	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	824	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTCCTAGAGAATATGGGGG	0.607000													6	370					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166698	100166698	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr12:100166698A>G	uc001tge.2	-	8	1545	c.1128_splice	c.e8+1	p.V376_splice	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Splice_Site_p.V342_splice	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	376						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCCTTACTTACTACACTCTG	0.433000													7	47					0	0	1	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594029	75594029	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr15:75594029A>G	uc002azx.1	-	1	541	c.291T>C	c.(289-291)caT>caC	p.H97H						RecName: Full=Putative GED domain-containing protein DNM1P34; AltName: Full=DNM1 pseudogene 34;																		TCTTGTCCCCATGCAAGTACA	0.577000													8	7					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47889325	47889325	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:47889325T>C	uc003cru.3	+	13	2591	c.2165T>C	c.(2164-2166)gTt>gCt	p.V722A	DHX30_uc003crt.3_Missense_Mutation_p.V683A|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	722	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGCCTCCAGTTGGGGTGCGC	0.527000													4	63					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469436	152469436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:152469436C>T	uc021zhb.1	-	134	24943	c.24720G>A	c.(24718-24720)tgG>tgA	p.W8240*	SYNE1_uc003qos.4_Nonsense_Mutation_p.W2764*|SYNE1_uc003qot.4_Nonsense_Mutation_p.W8169*|SYNE1_uc003qou.4_Nonsense_Mutation_p.W8240*|SYNE1_uc011eez.2_Nonsense_Mutation_p.W442*|SYNE1_uc003qoq.4_Nonsense_Mutation_p.W442*|SYNE1_uc003qor.4_Nonsense_Mutation_p.W1140*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8240					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.H8239Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCGGTCGTGCCAGTGCAGGT	0.617000										HNSCC(10;0.0054)			9	86					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:39274343A>G	uc002hvz.3	-	0	264	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000													5	134					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29820948	29820948	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:29820948T>A	uc002dtx.3	+	4	1535	c.1367T>A	c.(1366-1368)cTg>cAg	p.L456Q	BOLA2_uc010bzb.1_Intron|MAZ_uc010vdx.2_Intron|MAZ_uc002dty.3_Intron|MAZ_uc002dtz.1_3'UTR|AK097472_uc002duc.1_Intron|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.4_5'Flank|PRRT2_uc002duf.1_5'Flank	NM_001042539	NP_001036004	P56270	MAZ_HUMAN	Homo sapiens MYC-associated zinc finger protein (purine-binding transcription factor) (MAZ), transcript variant 2, mRNA.	194					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTGCAAGCTGTGCAGCGTG	0.711000													13	35					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968222	64968222	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:64968222A>G	uc001jmn.3	-	9	3507	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	JMJD1C_uc001jml.3_Silent_p.D850D|JMJD1C_uc001jmm.3_Silent_p.D781D|JMJD1C_uc010qiq.2_Silent_p.D887D|JMJD1C_uc009xpi.3_Silent_p.D887D|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.D106D	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1069					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCGTTCTACATCCATATCTT	0.388000													70	167					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033092	117033092	+	Missense_Mutation	SNP	C	C	T	rs151170440		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:117033092C>T	uc011mtp.2	-	7	1889	c.1756G>A	c.(1756-1758)Gct>Act	p.A586T	KLHL13_uc004eqk.3_Missense_Mutation_p.A532T|KLHL13_uc004eql.3_Missense_Mutation_p.A583T|KLHL13_uc011mtn.2_Missense_Mutation_p.A423T|KLHL13_uc011mto.2_Missense_Mutation_p.A577T|KLHL13_uc011mtq.2_Missense_Mutation_p.A567T|KLHL13_uc004eqm.3_Missense_Mutation_p.A541T|KLHL13_uc022cde.1_Missense_Mutation_p.A567T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCGAAGACAGCGACCCCAACA	0.413000													4	117					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726120	181726120	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:181726120G>A	uc009wxt.3	+	29	4382	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	CACNA1E_uc001gow.3_Missense_Mutation_p.R1396H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1377H|CACNA1E_uc001gox.1_Missense_Mutation_p.R622H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1396					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCAGCAACCGCATGGAGATG	0.488000													26	92					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624784	1624784	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:1624784G>A	uc003wpl.3	+	8	2145	c.2048_splice	c.e8+1	p.R683_splice	DLGAP2_uc003wpm.3_Splice_Site_p.R669_splice	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGAGAAGCGGTAACTCAGC	0.582000													3	26					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156828373	156828373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:156828373G>A	uc010pht.2	-	0	340	c.41C>T	c.(40-42)cCt>cTt	p.P14L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.P14L|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	14					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATCACAGGCAGGCATGC	0.632000													17	77					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514330	58514330	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:58514330C>T	uc002ybb.3	-	0	1023	c.657G>A	c.(655-657)gcG>gcA	p.A219A	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	219	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACCGCGCCACCGCCTCGTGGG	0.687000													11	72					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141049577	141049577	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:141049577C>G	uc003llm.3	-	14	2239	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ARAP3_uc011dbe.2_Missense_Mutation_p.E383Q|ARAP3_uc003lln.3_Missense_Mutation_p.E623Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	721					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTGTTTTCCGATGCAAAC	0.587000													8	95					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92944268	92944268	+	Silent	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:92944268T>G	uc001dou.4	-	5	1131	c.967A>C	c.(967-969)Agg>Cgg	p.R323R	GFI1_uc001dov.4_Silent_p.R323R|GFI1_uc001dow.4_Silent_p.R323R	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	323					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTGGATGACCTCTTGAAGCTC	0.517000													23	85					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100103	102100103	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:102100103C>T	uc003uzl.3	-	1	307	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	ALKBH4_uc003uzm.3_Missense_Mutation_p.R17Q	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	90						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GTCCATGAGCCGCACCAACTC	0.627000													47	180					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279651	85279651	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:85279651C>G	uc001dkl.2	-	1	979	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	LPAR3_uc009wcj.1_Missense_Mutation_p.E314Q	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	314					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTGGGTTCTCCTGAGAGAAG	0.547000													28	82					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824457	34824457	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:34824457A>C	uc003jis.3	+	16	3058	c.2519A>C	c.(2518-2520)aAt>aCt	p.N840T	RAI14_uc003jir.3_Missense_Mutation_p.N837T|RAI14_uc010iur.3_Missense_Mutation_p.N808T|RAI14_uc011coj.2_Missense_Mutation_p.N837T|RAI14_uc003jit.3_Missense_Mutation_p.N837T|RAI14_uc011cok.2_Missense_Mutation_p.N829T	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	837						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGGAAAATATTCAGACT	0.383000													31	97					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41029534	41029534	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:41029534G>A	uc002ony.3	+	16	3931	c.3845G>A	c.(3844-3846)cGg>cAg	p.R1282Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1282Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1282Q|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1282					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|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)			GCTGTGACCCGGCTGCTGGAG	0.657000													4	80					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406449	38406449	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:38406449G>T	uc001izk.3	+	7	1200	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF37A_uc001izl.3_Missense_Mutation_p.G124W|ZNF37A_uc001izm.3_Missense_Mutation_p.G124W	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N123D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATAAAAATGGGAACAGCTT	0.333000													13	170					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183085994	183085994	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:183085994C>G	uc001gpy.4	+	7	1777	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	507					axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACAAACGCTGTTGGCTAC	0.403000													15	101					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836888	82836888	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:82836888C>T	uc003kii.3	+	7	8422	c.8066C>T	c.(8065-8067)aCg>aTg	p.T2689M	VCAN_uc003kij.3_Missense_Mutation_p.T1702M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T1353M	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2689	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTACTTCCCACGGCAACATCC	0.438000													23	112					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62370021	62370021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:62370021A>G	uc002ygp.4	+	5	1605	c.656A>G	c.(655-657)gAc>gGc	p.D219G	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_3'UTR|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank|SLC2A4RG_uc011abj.2_5'Flank|SLC2A4RG_uc002ygs.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	0					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACCCGCTGGACCCCAAGGGC	0.667000													10	45					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069967	161069967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:161069967G>A	uc001fxr.3	+	3	1148	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	KLHDC9_uc001fxq.3_Missense_Mutation_p.D97N|KLHDC9_uc021pbt.1_Missense_Mutation_p.D117N|KLHDC9_uc021pbu.1_3'UTR|KLHDC9_uc001fxs.3_3'UTR	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	335										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTTTGGTGAGGATGGCAGGAC	0.502000													43	124					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613289	51613289	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:51613289A>G	uc003pah.1	-	57	9401	c.9125T>C	c.(9124-9126)aTt>aCt	p.I3042T	PKHD1_uc010jzn.1_Missense_Mutation_p.I1025T|PKHD1_uc003pai.3_Missense_Mutation_p.I3042T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3042					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAACACAATATTGTCATT	0.498000													26	79					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:70455304C>T	uc011caq.2	-	6	1984	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	UGT2A1_uc010ihu.3_Missense_Mutation_p.R457Q|UGT2A1_uc003hem.4_Missense_Mutation_p.R457Q|UGT2A1_uc010ihs.3_Missense_Mutation_p.R466Q|UGT2A1_uc021xox.1_Missense_Mutation_p.R422Q|UGT2A1_uc010iht.3_Missense_Mutation_p.R413Q	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000													4	165					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511506	242511506	+	Silent	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:242511506G>A	uc001hzn.2	-	2	455	c.228C>T	c.(226-228)tgC>tgT	p.C76C	PLD5_uc021pll.1_5'UTR|PLD5_uc001hzl.4_Silent_p.C14C|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_5'UTR	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	76						integral to membrane	catalytic activity	p.Q75K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCAAAGCAGCACACCAGGG	0.453000													4	89					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187505689	187505689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:187505689delA	uc002upq.3	+	10	1227	c.951delA	c.(949-951)ggafs	p.G317fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.G281fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.G271fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	317					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACATTAATGGAGATGAGTAAG	0.289													2	4	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													9	138	---	---	---	---					
CRSP8P	441089	broad.mit.edu	37	5	79646840	79646840	+	RNA	DEL	T	T	-	rs34240292		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:79646840delT	uc010jaj.1	-	0		c.946delA								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		GCGTGGGGGCTTACTGCCGGC	0.632													2	4	---	---	---	---					
CRTC1	23373	broad.mit.edu	37	19	18864349	18864349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:18864349delC	uc010ebv.3	+	6	714	c.626delC	c.(625-627)tcafs	p.S209fs	CRTC1_uc002nkb.4_Frame_Shift_Del_p.S193fs|CRTC1_uc010ebw.3_Frame_Shift_Del_p.S58fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	193					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453													102	349	---	---	---	---					
CACNA1I	8911	broad.mit.edu	37	22	40042647	40042647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:40042647delA	uc003ayc.3	+	7	1223	c.1223delA	c.(1222-1224)gagfs	p.E408fs	CACNA1I_uc003ayd.3_Frame_Shift_Del_p.E408fs|CACNA1I_uc003aye.3_Frame_Shift_Del_p.E323fs|CACNA1I_uc003ayf.3_Frame_Shift_Del_p.E323fs	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	408					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCAACGGGAGCACCGGCTG	0.612													2	4	---	---	---	---					
