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
MAP4K3	8491	broad.mit.edu	37	2	39514030	39514030	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:39514030C>T	ENST00000263881.3	-	21	1874	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	MAP4K3_ENST00000437545.1_Missense_Mutation_p.G433D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G496D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G70D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	517					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AAGGTTTGTGCCTCTATGTTC	0.323000													6	55					0	0	1	0	0
OVCA2	124641	broad.mit.edu	37	17	1946217	1946217	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:1946217C>T	ENST00000572195.1	+	2	518	c.503C>T	c.(502-504)tCa>tTa	p.S168L	DPH1_ENST00000570477.1_3'UTR|DPH1_ENST00000263083.6_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	168					response to retinoic acid	cytoplasm	hydrolase activity										AGGCCCTTGTCATTGCCTTCG	0.567000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	46					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29775482	29775482	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr10:29775482G>A	ENST00000375398.2	-	27	4939	c.4490C>T	c.(4489-4491)tCa>tTa	p.S1497L	SVIL_ENST00000535393.1_Missense_Mutation_p.S411L|SVIL_ENST00000538146.1_Missense_Mutation_p.S289L|SVIL_ENST00000375400.3_Missense_Mutation_p.S1071L|SVIL_ENST00000355867.4_Missense_Mutation_p.S1497L|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1497	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCAAGTTCTGAGGCCTAAAA	0.438000													7	38					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227920197	227920197	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:227920197C>T	ENST00000366758.3	-	6	1287	c.1288G>A	c.(1288-1290)Gcg>Acg	p.A430T	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A414T|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	430										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TCGGGGTGCGCAACCAAGGAG	0.632000													4	50					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285124	27285124	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:27285124C>T	ENST00000317338.12	-	11	2571	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SEZ6_ENST00000442608.3_Missense_Mutation_p.E715K|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.E715K|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	715	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTGGGGATCTCAGGCAGCTCC	0.622000													7	70					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67077754	67077754	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:67077754C>T	ENST00000308127.4	+	13	1805	c.1627C>T	c.(1627-1629)Ctt>Ttt	p.L543F	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	543					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTCCATCAGTCTTCTGGAGCC	0.627000													10	65					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407577	50407577	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr20:50407577G>C	ENST00000217086.4	-	2	1556	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	482					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGCCCTACAGAGGTGGTTAC	0.557000													14	135					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134010629	134010629	+	Missense_Mutation	SNP	C	C	A	rs146878298	byFrequency	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:134010629C>A	ENST00000299106.4	+	3	379	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	JAM3_ENST00000441717.3_Missense_Mutation_p.Q74K|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.Q119K			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	74	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCAAGATGAACAAACCACATA	0.433000													4	52					0.014758	0.0148443	1	1	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833496	27833496	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:27833496G>A	ENST00000357320.2	+	1	463	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	122					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CAAGAAGACCGAGAGTCACCA	0.527000													12	113					0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743560	38743560	+	Missense_Mutation	SNP	C	C	G	rs61750951	byFrequency	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:38743560C>G	ENST00000591585.1	-	2	448	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	PPP1R14A_ENST00000301242.4_Missense_Mutation_p.E86Q|PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000591291.1_Missense_Mutation_p.E86Q|PPP1R14A_ENST00000587515.1_Missense_Mutation_p.E16Q			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	86	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCTCCTCTTCACTCTCTAAC	0.532000													7	189					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850030	58850030	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:58850030G>A	ENST00000329665.4	+	3	961	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	272					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAAGTGTCGCGAGTGTAGGAA	0.537000													35	196					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36429575	36429575	+	Splice_Site	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:36429575C>T	ENST00000297063.6	-	1	159		c.e1+1		ANLN_ENST00000396068.2_5'UTR|ANLN_ENST00000265748.2_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895											breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAGACTCACTTTTCTCTTC	0.562000													13	41					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54575811	54575811	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr20:54575811T>G	ENST00000064571.2	-	2	1684	c.384A>C	c.(382-384)aaA>aaC	p.K128N		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	128	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTGGTAGACTTTAATCACGT	0.373000													29	86					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208206751	208206751	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:208206751C>G	ENST00000367033.3	-	28	5725	c.4968G>C	c.(4966-4968)aaG>aaC	p.K1656N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1656					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTCATGGTTCTTCACCAGAT	0.627000													8	53					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45395737	45395737	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr18:45395737G>A	ENST00000402690.2	-	4	791	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	SMAD2_ENST00000356825.4_Missense_Mutation_p.R103C|SMAD2_ENST00000586040.1_Missense_Mutation_p.R103C|SMAD2_ENST00000591214.1_Missense_Mutation_p.R103C|SMAD2_ENST00000262160.6_Missense_Mutation_p.R133C|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	133	MH1.		R -> C (in a colorectal carcinoma sample).		anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCAGGCCAGCGCCATAATCGG	0.423000													4	24					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522462	157522462	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:157522462G>C	ENST00000346085.5	+	18	4735	c.4734G>C	c.(4732-4734)atG>atC	p.M1578I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCGTCTATGAAGATGCAGA	0.602000													11	107					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332468	130332468	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:130332468C>T	ENST00000299164.2	+	4	1335	c.1335C>T	c.(1333-1335)agC>agT	p.S445S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	445	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACACCCTGAGCCAGCAGTGCG	0.642000													6	76					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27695886	27695886	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:27695886C>T	ENST00000270879.4	-	8	746	c.741G>A	c.(739-741)gtG>gtA	p.V247V	FCN3_ENST00000354982.2_Silent_p.V236V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	247	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACAATCACTGCACAGT	0.542000													8	88					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003744	41003744	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:41003744C>T	ENST00000308423.2	+	1	544	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	128					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGCCATCGTCTTCTTTGGCA	0.652000													3	31					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56295993	56295993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:56295993G>A	ENST00000393119.2	-	2	252	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	MKS1_ENST00000537529.2_Nonsense_Mutation_p.Q50*|MKS1_ENST00000313863.6_Nonsense_Mutation_p.Q60*|MKS1_ENST00000546108.1_5'UTR|LPO_ENST00000582328.1_5'UTR|MKS1_ENST00000337050.7_Nonsense_Mutation_p.Q60*	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	60					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGTTGGCTGAGGCCTAAAA	0.448000													5	45					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41145359	41145359	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:41145359G>C	ENST00000344051.4	+	3	747	c.513G>C	c.(511-513)ttG>ttC	p.L171F	SPINT1_ENST00000562057.1_Missense_Mutation_p.L171F|SPINT1_ENST00000431806.1_Missense_Mutation_p.L171F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	171						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATAGACTTGAAGGTACAAC	0.557000													15	134					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45882448	45882448	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:45882448C>G	ENST00000443527.2	+	4	602	c.580C>G	c.(580-582)Cag>Gag	p.Q194E	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Missense_Mutation_p.Q112E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	173					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAAGCGCTTTCAGGCCATCAT	0.577000													14	106					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175636	51175636	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:51175636G>A	ENST00000440970.1	-	2	637	c.206C>T	c.(205-207)tCc>tTc	p.S69F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S166F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	166					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTACCTGTGGAGGAgctgcc	0.607000													13	44					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215972	140215972	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr5:140215972G>A	ENST00000525929.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA7_ENST00000378125.3_Silent_p.S668S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGTCGCTGGTGGAAA	0.647000													17	98					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33636799	33636799	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:33636799C>T	ENST00000374316.5	+	19	3115	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	ITPR3_ENST00000605930.1_Silent_p.I685I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	685					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCTGAGCATCGAGTACTCAG	0.607000													4	41					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185969566	185969566	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr3:185969566G>A	ENST00000265022.3	-	19	2282	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	DGKG_ENST00000382164.4_Silent_p.N542N|DGKG_ENST00000544847.1_Silent_p.N522N|DGKG_ENST00000344484.4_Silent_p.N556N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	581					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGAGAAATAGTTGTTCATGA	0.537000													5	85					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087558	27087558	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:27087558C>G	ENST00000324856.7	+	5	2503	c.2132C>G	c.(2131-2133)tCa>tGa	p.S711*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S711*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S328*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	711					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)		CAGTCTCGCTCAGGACCACTC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	56					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99806173	99806173	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr4:99806173C>A	ENST00000450253.2	-	6	1963	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	EIF4E_ENST00000280892.6_Missense_Mutation_p.D167Y|EIF4E_ENST00000505992.1_Missense_Mutation_p.D178Y|EIF4E_ENST00000504432.1_Missense_Mutation_p.D175Y	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	147					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CATACATCATCACTGTAGTCA	0.333000													3	29					6.4e-05	6.59162e-05	1	1	0
CD5	921	broad.mit.edu	37	11	60887037	60887037	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:60887037C>T	ENST00000347785.3	+	5	961	c.795C>T	c.(793-795)ctC>ctT	p.L265L		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	265	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TTCTTGCCCTCCTTTGCTCAG	0.542000													3	29					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60775768	60775768	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr20:60775768G>A	ENST00000370823.3	+	7	874	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	MTG2_ENST00000436421.2_Missense_Mutation_p.A128T|MTG2_ENST00000536470.1_Missense_Mutation_p.A58T	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CATACGAGGCGCCCACCAGAA	0.637000													10	122					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226106	24226106	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:24226106C>T	ENST00000303531.7	+	17	2143	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	665	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTGTTAACTCTGAATTTTTA	0.418000													12	98					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675854	18675854	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:18675854C>T	ENST00000308799.4	+	11	2442	c.2223C>T	c.(2221-2223)ctC>ctT	p.L741L	FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Silent_p.L712L|FBXW10_ENST00000301938.4_Silent_p.L659L|FBXW10_ENST00000395665.4_Silent_p.L712L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	712										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						aaaaTAGTCTCATGGAAATTC	0.403000													6	148					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:62521022G>A	ENST00000394807.3	-	2	390	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557000													3	38					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063878	51063878	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr22:51063878C>T	ENST00000547307.1	-	8	1624	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	ARSA_ENST00000216124.5_Missense_Mutation_p.D409N|ARSA_ENST00000453344.2_Missense_Mutation_p.D323N|ARSA_ENST00000395621.3_Missense_Mutation_p.D409N|ARSA_ENST00000547805.1_Missense_Mutation_p.D407N|ARSA_ENST00000395619.3_Missense_Mutation_p.D409N|ARSA_ENST00000356098.5_Missense_Mutation_p.D409N			P15289	ARSA_HUMAN	arylsulfatase A	407			Missing (in MLD; late-infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCAGTGGTATCACTGTGGGCA	0.642000													7	70					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569207	5569207	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:5569207G>A	ENST00000331789.5	-	2	273	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	28					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGACGGCCCGGGGGGCATCG	0.706000													3	26					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41763377	41763377	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:41763377G>A	ENST00000389629.4	+	8	1045	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	345	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TAGGAAAGAAGAGATCCCTCC	0.403000													8	107					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42483722	42483722	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:42483722T>C	ENST00000318006.5	-	3	338	c.176A>G	c.(175-177)aAt>aGt	p.N59S	VPS39_ENST00000568357.1_5'UTR|VPS39_ENST00000348544.4_Missense_Mutation_p.N70S	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	70	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GAAGTTCTTATTGGATTTCTC	0.373000													28	65					0	0	1	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197961	8197961	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:8197961C>G	ENST00000380067.2	-	1	209	c.165G>C	c.(163-165)aaG>aaC	p.K55N	SLC25A35_ENST00000580340.1_Missense_Mutation_p.K55N|SLC25A35_ENST00000577745.1_Missense_Mutation_p.K55N|SLC25A35_ENST00000579192.1_Missense_Mutation_p.K55N|SLC25A35_ENST00000396278.1_Missense_Mutation_p.K55N	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	55					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						GGCCATCCACCTTGCCGATGG	0.592000													8	44					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43324906	43324906	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:43324906C>G	ENST00000361428.2	-	3	1223	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	ZNF318_ENST00000318149.3_Missense_Mutation_p.L382F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	382					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCGCTTCTTCAAAATGGATT	0.488000													6	63					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94033913	94033913	+	Splice_Site	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:94033913G>A	ENST00000297268.6	+	7	795		c.e7+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGAGCCCCAGTAAGTACTGA	0.413000										HNSCC(75;0.22)			17	24					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101721902	101721902	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:101721902C>T	ENST00000318607.5	-	8	2158	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.E299K|PABPC1_ENST00000522387.1_Missense_Mutation_p.E312K	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	344	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GTGGCTTCTTCTGGGGAGGAG	0.418000													8	71					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274588	56274588	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:56274588C>T	ENST00000225371.5	+	7	1200	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	364			R -> H (in dbSNP:rs35232062).		hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R364C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCTCACCAACCGCTCGGCGCG	0.632000													17	51					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42991101	42991101	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:42991101C>G	ENST00000253408.5	-	3	678	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.E205Q|GFAP_ENST00000435360.2_Missense_Mutation_p.E205Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	205	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.E205K(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CTCACCTCCTCGTGGATCTTC	0.562000													14	176					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046796	1046796	+	Silent	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr10:1046796C>G	ENST00000360803.4	+	7	916	c.834C>G	c.(832-834)ctC>ctG	p.L278L	GTPBP4_ENST00000538293.1_Silent_p.L162L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L231L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	278					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.L278L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCAGACCTCTCTTCATCAACA	0.473000													19	75					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694960	26694960	+	Silent	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr22:26694960G>C	ENST00000529632.2	+	5	1369	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L	SEZ6L_ENST00000404234.3_Silent_p.L391L|SEZ6L_ENST00000403121.1_Silent_p.L164L|SEZ6L_ENST00000402979.1_Silent_p.L164L|SEZ6L_ENST00000343706.4_Silent_p.L391L|SEZ6L_ENST00000360929.3_Silent_p.L391L|SEZ6L_ENST00000248933.6_Silent_p.L391L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	391	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCATGCTGAGCTGCAACT	0.587000													5	33					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136527345	136527345	+	Silent	SNP	A	A	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:136527345A>G	ENST00000272638.9	+	7	920	c.609A>G	c.(607-609)acA>acG	p.T203T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	203					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACAGACTAACAAAAAAACTTG	0.313000													11	48					0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35642286	35642286	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:35642286C>T	ENST00000588265.1	+	3	246	c.191C>T	c.(190-192)tCa>tTa	p.S64L	FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTGGCTTTCATCCATATCC	0.547000													7	100					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126329609	126329609	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:126329609C>T	ENST00000334379.5	+	8	872	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	TRMT11_ENST00000450358.1_Missense_Mutation_p.H251Y|TRMT11_ENST00000368332.3_Missense_Mutation_p.H251Y	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	251					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CAACACAGTTCATGGCTTGGG	0.403000													7	183					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32457215	32457215	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr9:32457215C>T	ENST00000379882.1	-	17	2705	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	DDX58_ENST00000542096.1_Missense_Mutation_p.E824K|DDX58_ENST00000379883.2_Missense_Mutation_p.E895K|DDX58_ENST00000379868.1_Missense_Mutation_p.E692K			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	895	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GCAATATCCTCCACCACAAAA	0.403000													6	114					0	0	1	0	0
CLLU1	574028	broad.mit.edu	37	12	92818616	92818616	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:92818616C>G	ENST00000378485.1	+	1	882	c.160C>G	c.(160-162)Caa>Gaa	p.Q54E	CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000378487.2_Intron|CLLU1OS_ENST00000538965.1_Intron	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTTATTTTCTCAAAACAACAG	0.294000													5	26					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70511681	70511681	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chrX:70511681C>T	ENST00000276079.8	+	4	412	c.207C>T	c.(205-207)acC>acT	p.T69T	NONO_ENST00000373841.1_Silent_p.T69T|NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373856.3_Silent_p.T69T	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	69	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAGAGAAGACCTTCACCCAAC	0.418000			T	TFE3	papillary renal cancer								5	73					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177283	223177283	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:223177283C>T	ENST00000284476.6	+	8	2708	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	848					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACAGGACTTCACCAGCTGCT	0.488000													4	63					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161342	40161342	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr22:40161342G>A	ENST00000325157.6	-	6	1355	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	369										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTGAATGAGGGAGAGAGACAG	0.418000													22	68					0	0	1	0	0
MIR633	693218	broad.mit.edu	37	17	61021629	61021629	+	RNA	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:61021629G>A	ENST00000582505.1	-	0	354				MIR633_ENST00000384821.1_RNA																							aacctaaaatgagaaggctaa	0.308000													8	36					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921885	78921885	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:78921885G>C	ENST00000261751.3	-	5	873	c.762C>G	c.(760-762)ttC>ttG	p.F254L	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	254					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATGGCAGGTAGAAGACGAGGA	0.547000													8	91					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867444	29867444	+	Silent	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr18:29867444G>C	ENST00000399218.4	-	4	1171	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.L372L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GGGCGTAGCTGAGCGAATTGG	0.552000													6	51					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293455	62293455	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:62293455C>T	ENST00000378024.4	-	5	8708	c.8434G>A	c.(8434-8436)Gaa>Aaa	p.E2812K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2812					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGTCCTTCGATATTCACA	0.448000													16	192					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844279	52844279	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:52844279C>G	ENST00000252252.3	-	2	713	c.666G>C	c.(664-666)agG>agC	p.R222S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	222	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCAGCTGCCTCCTGAGGTTGT	0.582000													12	162					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626266	50626266	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr14:50626266C>G	ENST00000216373.5	-	10	2009	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.D546H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	579					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCCTCAGAGTCTTTTACTACA	0.338000													17	134					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532260	22532260	+	Missense_Mutation	SNP	A	A	G	rs62447564	by1000genomes	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:22532260A>G	ENST00000404369.4	-	4	1101	c.686T>C	c.(685-687)aTa>aCa	p.I229T	STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	210						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGAGCCAGTATTGCCAGTCC	0.393000													6	114					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50867789	50867789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:50867789C>T	ENST00000398473.2	+	15	1787	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	LARP4_ENST00000347328.5_Nonsense_Mutation_p.Q488*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.Q565*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.Q558*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.Q488*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	559							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TAGCACAACTCAGCAAGAAAA	0.368000													38	114					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9215173	9215173	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:9215173G>A	ENST00000328194.3	-	5	1325	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	DENND5A_ENST00000530044.1_Silent_p.F335F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	335	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGCCACTGGAAAGGAAACA	0.463000													4	60					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835177	27835177	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:27835177G>A	ENST00000331442.3	-	1	182	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	44	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GATCAGCTCTGAGACTGGGGG	0.622000													8	93					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663892	29663892	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr17:29663892C>T	ENST00000358273.4	+	42	6770	c.6387C>T	c.(6385-6387)atC>atT	p.I2129I	NF1_ENST00000356175.3_Silent_p.I2108I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2129					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTAATATCATTCACTCTC	0.428000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	75					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55524239	55524239	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:55524239C>T	ENST00000543384.1	+	7	1029	c.770C>T	c.(769-771)tCg>tTg	p.S257L	PCSK9_ENST00000302118.5_Silent_p.V474V|PCSK9_ENST00000490692.1_3'UTR			Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	0	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCACAGCCGTCGCCCGCTGCG	0.642000													7	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168074739	168074739	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:168074739G>A	ENST00000409195.1	+	5	876	c.787G>A	c.(787-789)Gag>Aag	p.E263K	XIRP2_ENST00000409728.1_Missense_Mutation_p.E296K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E263K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E263K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E41K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E41K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E296K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E263K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	88					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAACAATTTGAGGACGAAAT	0.393000													13	77					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61579955	61579955	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:61579955G>A	ENST00000350997.7	-	3	904	c.672C>T	c.(670-672)ctC>ctT	p.L224L	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.L83L|FADS1_ENST00000433932.1_Silent_p.L83L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	167					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAACTGCACTGAGCAGCACCG	0.567000													4	31					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170562	61170562	+	Splice_Site	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr18:61170562G>C	ENST00000382771.4	+	7	1027		c.e7-1		SERPINB5_ENST00000464346.1_Splice_Site	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5						cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTGTCCTTCAGATTGAAAAAC	0.373000													3	17					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130420712	130420712	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr9:130420712C>T	ENST00000373302.3	+	4	367	c.228C>T	c.(226-228)ctC>ctT	p.L76L	STXBP1_ENST00000373299.1_Silent_p.L76L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	76					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTGTGTATCTCATCACTCCAT	0.478000													11	128					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19119230	19119230	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:19119230C>A	ENST00000601879.1	-	6	2643	c.2346G>T	c.(2344-2346)atG>atT	p.M782I	SUGP2_ENST00000600377.1_Missense_Mutation_p.M796I|SUGP2_ENST00000337018.6_Missense_Mutation_p.M782I|SUGP2_ENST00000452918.2_Missense_Mutation_p.M782I|SUGP2_ENST00000456085.2_Missense_Mutation_p.M551I			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	782					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCATTGTCTTCATGTCAACTA	0.478000													20	157					2.27731e-05	2.35962e-05	1	1	0
CARD6	84674	broad.mit.edu	37	5	40852462	40852462	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr5:40852462C>G	ENST00000254691.5	+	3	1227	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	343					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCTAGGGATTCAATCCTCAGT	0.463000													11	36					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515342	39515342	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:39515342G>C	ENST00000263881.3	-	20	1718	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.S381*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.S444*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.S18*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	465					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGGGCTCCCTGACATGGGACA	0.458000													10	118					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114392972	114392972	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:114392972G>A	ENST00000545145.2	-	7	963	c.885C>T	c.(883-885)acC>acT	p.T295T	RBM19_ENST00000261741.5_Silent_p.T295T|RBM19_ENST00000392561.3_Silent_p.T295T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	295	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCAGCTTCACGGTGTGGCAGG	0.572000													7	57					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845433	52845433	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:52845433G>C	ENST00000252252.3	-	1	477	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	144	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGAGTCAGGAGACTCTGGTTG	0.622000													17	143					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197004	8197004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:8197004G>T	ENST00000520004.1	-	4	2568	c.2304C>A	c.(2302-2304)tgC>tgA	p.C768*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.C768*			Q86YV5	SG223_HUMAN		768							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCCATCGCTGCAGGTCCTAG	0.587000													5	54					0.000602214	0.000612905	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:119030980C>T	ENST00000307417.3	+	13	1845	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647000													4	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458065	179458065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:179458065G>A	ENST00000589042.1	-	299	59094	c.58870C>T	c.(58870-58872)Cga>Tga	p.R19624*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R17056*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R17983*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R10751*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R10559*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R10684*|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17983							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)			CTAGCCCATCGTTTAGACATA	0.403000													6	125					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29822111	29822111	+	Silent	SNP	T	T	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr10:29822111T>A	ENST00000375398.2	-	10	1634	c.1185A>T	c.(1183-1185)gcA>gcT	p.A395A	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Silent_p.A395A			O95425	SVIL_HUMAN	supervillin	395					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGGCTGATGCTACCCAGC	0.547000													16	20					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148802508	148802508	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr3:148802508C>G	ENST00000310053.5	-	2	382	c.189G>C	c.(187-189)ttG>ttC	p.L63F	HLTF_ENST00000392912.2_Missense_Mutation_p.L63F|HLTF_ENST00000481663.1_5'UTR|HLTF_ENST00000465259.1_Missense_Mutation_p.L63F|HLTF_ENST00000494055.1_Missense_Mutation_p.L63F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	63					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATGACCTCTCAAACTTCCAA	0.343000													7	61					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15601361	15601361	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:15601361G>A	ENST00000281513.5	-	21	2328	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	NBAS_ENST00000441750.1_Missense_Mutation_p.S768F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	768										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCATGTGGAGAAGTGGTCTC	0.388000													6	88					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33639882	33639882	+	Silent	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:33639882C>G	ENST00000374316.5	+	23	3865	c.2805C>G	c.(2803-2805)gtC>gtG	p.V935V	ITPR3_ENST00000605930.1_Silent_p.V935V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	935					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGCAGTCCGTCTTCAGTGCCC	0.612000													6	58					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094909	91094909	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:91094909A>T	ENST00000265431.3	-	1	198	c.17T>A	c.(16-18)cTg>cAg	p.L6Q		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	6	Interaction with RANBP9.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GGATGACTGCAGGTGGGATTC	0.517000													13	65					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408392	28408392	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:28408392G>C	ENST00000261609.7	-	69	10702	c.10594C>G	c.(10594-10596)Cag>Gag	p.Q3532E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3532					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGGCCTGAGGCTCCGGA	0.502000													12	62					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378669	114378669	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:114378669C>T	ENST00000312719.5	-	5	1981	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E265K|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	265					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AGCTGAAGTTCTGGCAGAGGT	0.433000													10	86					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996769	144996769	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:144996769T>C	ENST00000322810.4	-	31	7908	c.7739A>G	c.(7738-7740)cAt>cGt	p.H2580R	PLEC_ENST00000398774.2_Missense_Mutation_p.H2411R|PLEC_ENST00000527096.1_Missense_Mutation_p.H2466R|PLEC_ENST00000354958.2_Missense_Mutation_p.H2421R|PLEC_ENST00000356346.3_Missense_Mutation_p.H2429R|PLEC_ENST00000354589.3_Missense_Mutation_p.H2443R|PLEC_ENST00000357649.2_Missense_Mutation_p.H2447R|PLEC_ENST00000345136.3_Missense_Mutation_p.H2443R|PLEC_ENST00000436759.2_Missense_Mutation_p.H2470R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2580	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCATCATGGTCACTCTG	0.622000													4	23					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40110563	40110563	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:40110563G>C	ENST00000324616.5	+	12	1571	c.1417G>C	c.(1417-1419)Gat>Cat	p.D473H		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	473										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTCAGCTCTTGATTCTGCACA	0.353000													6	52					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20077655	20077655	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr22:20077655G>A	ENST00000351989.3	+	5	1609	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E394K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E394K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	394	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCCCCTGGATGAGCCTGACTC	0.647000													17	117					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	14					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967964	4967964	+	Missense_Mutation	SNP	C	C	G	rs140371147	byFrequency	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:4967964C>G	ENST00000380373.2	-	1	392	c.367G>C	c.(367-369)Gat>Cat	p.D123H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAATCTATCAAATGACATG	0.443000													15	99					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507041	51507041	+	Silent	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:51507041G>C	ENST00000250366.6	-	4	555	c.522C>G	c.(520-522)ctC>ctG	p.L174L	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.L174L|KLK9_ENST00000376832.4_Silent_p.L174L	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	174	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCAGTGACAGAGTTTGTTCT	0.572000													8	67					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803153	31803153	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr18:31803153G>A	ENST00000261592.5	-	1	362	c.65C>T	c.(64-66)tCa>tTa	p.S22L	NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Missense_Mutation_p.S22L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	22						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGTCTTGCCTGAGTCCCCGTA	0.592000													7	57					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647590	117647590	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:117647590C>T	ENST00000321322.6	-	3	608	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	143	Ig-like C2-type 2.				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	p.V203F(1)		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)		CACTTGAAGACGGCCACGTTG	0.532000													8	32					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860939	21860939	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr14:21860939G>A	ENST00000399982.2	-	33	6562	c.6498C>T	c.(6496-6498)ctC>ctT	p.L2166L	CHD8_ENST00000430710.3_Silent_p.L1887L|CHD8_ENST00000557364.1_Silent_p.L2166L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2166					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTGGCAGACGAGGTCAATAC	0.478000													6	145					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989501	134989501	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chrX:134989501G>A	ENST00000535938.1	+	9	1074	c.907G>A	c.(907-909)Gag>Aag	p.E303K	SAGE1_ENST00000324447.3_Missense_Mutation_p.E303K|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.E303K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	303										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGTGAAGAGAAGATGGA	0.428000													11	121					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657060	40657060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:40657060C>A	ENST00000406785.1	-	2	550	c.361G>T	c.(361-363)Gag>Tag	p.E121*	SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.E121*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.E121*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	121					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTGGTGGTCTCTCCATTGGGT	0.418000													10	123					2.17888e-05	2.27131e-05	1	1	0
SPIDR	23514	broad.mit.edu	37	8	48320493	48320493	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:48320493C>G	ENST00000297423.4	+	7	1231	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.Q223E|SPIDR_ENST00000541342.1_Missense_Mutation_p.Q213E	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GTGGAGACATCAATGTATTTC	0.318000													6	61					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747745	68747745	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:68747745C>T	ENST00000309106.3	-	1	710	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	237						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTAGATGCTCAGAGGCAGGG	0.632000													6	39					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131206323	131206323	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:131206323G>A	ENST00000337057.3	-	12	1927	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	EPB41L2_ENST00000368128.2_Silent_p.V582V|EPB41L2_ENST00000525271.1_Silent_p.V582V|EPB41L2_ENST00000530481.1_Silent_p.V582V|EPB41L2_ENST00000445890.2_Silent_p.V582V|EPB41L2_ENST00000525193.1_Silent_p.V582V|EPB41L2_ENST00000529208.1_Silent_p.V582V|EPB41L2_ENST00000392427.3_Silent_p.V582V|EPB41L2_ENST00000528282.1_Silent_p.V582V|EPB41L2_ENST00000527659.1_Silent_p.V582V|EPB41L2_ENST00000527411.1_Silent_p.V582V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	582	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CGGCAATGCTGACAAGTCCAG	0.493000											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	127					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208852	53208852	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:53208852C>T	ENST00000543227.1	-	6	1730	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	ZNF611_ENST00000540744.1_Missense_Mutation_p.E486K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E417K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E417K|ZNF611_ENST00000319783.1_Missense_Mutation_p.E486K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E417K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTCCCACATTCATTACACTTG	0.353000													9	151					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67984319	67984319	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:67984319G>C	ENST00000422611.2	-	11	1577	c.1538C>G	c.(1537-1539)tCc>tGc	p.S513C	SLC12A4_ENST00000576616.1_Missense_Mutation_p.S511C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S505C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S511C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S480C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S463C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.S511C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	511					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAAAAGAAGGAGCCGATGAC	0.617000													5	38					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204438	9204438	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:9204438A>T	ENST00000429566.3	+	1	584	c.518A>T	c.(517-519)gAg>gTg	p.E173V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGCAGCCATGAGGTGCCTCAC	0.577000													22	120					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6504277	6504277	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr10:6504277C>G	ENST00000263125.5	-	14	1595	c.1496G>C	c.(1495-1497)gGa>gCa	p.G499A	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G499A|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G374A	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	499	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTAGACTATTCCTTTGGAATG	0.413000													7	62					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75888899	75888899	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr10:75888899A>G	ENST00000355264.4	-	6	1081	c.770T>C	c.(769-771)tTc>tCc	p.F257S	AP3M1_ENST00000372745.1_Missense_Mutation_p.F257S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	257	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TATGAGTCGGAAATTTCCATC	0.438000													20	35					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231404078	231404078	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:231404078C>G	ENST00000340126.4	+	25	2222	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	479					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCCACATCCCATCCGTGGA	0.512000													4	40					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47144879	47144879	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr3:47144879C>T	ENST00000409792.3	-	7	4916	c.4874G>A	c.(4873-4875)cGt>cAt	p.R1625H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1122H(1)|p.R1625H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTCATGAAACGAGAGCAATT	0.348000			"""N, F, S, Mis"""		clear cell renal carcinoma								27	62					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32267680	32267680	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr20:32267680G>A	ENST00000343380.5	-	3	592	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	151					apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTTCAGGTCGACGACACCGT	0.582000													4	67					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229676448	229676448	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:229676448C>G	ENST00000344517.4	-	5	1150	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	370	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCAGTCATTTCTTTCCCAAAA	0.428000													4	69					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63053961	63053961	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:63053961C>T	ENST00000561311.1	+	37	4950	c.4720C>T	c.(4720-4722)Ctg>Ttg	p.L1574L	TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Silent_p.L1574L			Q9Y4G6	TLN2_HUMAN	talin 2	1574					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGTGGAGAACCTGACAGCGTT	0.527000													14	139					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42720524	42720524	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr21:42720524A>G	ENST00000398652.3	+	8	674	c.608A>G	c.(607-609)aAt>aGt	p.N203S	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.N187S|FAM3B_ENST00000398647.3_Missense_Mutation_p.N116S|FAM3B_ENST00000357985.2_Missense_Mutation_p.N164S			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	164					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TGCAGACTGAATAACGATGCC	0.458000													5	36					0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26246107	26246107	+	Silent	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:26246107C>T	ENST00000337620.4	+	3	572	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CBX3_ENST00000409747.1_Silent_p.F48F|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.F48F	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	48	Chromo 1.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TGGAATATTTCCTGAAGTGGA	0.368000													7	103					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	15					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209640	71209640	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:71209640G>T	ENST00000393567.2	-	5	536	c.386C>A	c.(385-387)cCa>cAa	p.P129Q	HYDIN_ENST00000288168.10_Missense_Mutation_p.P146Q|HYDIN_ENST00000321489.5_Missense_Mutation_p.P129Q|HYDIN_ENST00000448089.2_Missense_Mutation_p.P129Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.P129Q|HYDIN_ENST00000541601.1_Missense_Mutation_p.P146Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.P156Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.P129Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	129										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCAACCTTGGAATCTGCAG	0.428000													7	70					0.000157383	0.000161131	1	1	0
SCARB2	950	broad.mit.edu	37	4	77116943	77116943	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr4:77116943G>C	ENST00000264896.2	-	2	541	c.192C>G	c.(190-192)ttC>ttG	p.F64L	SCARB2_ENST00000452464.2_Missense_Mutation_p.F64L	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	64					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGAAGAAATAGAACTGAGTAT	0.473000													7	78					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862612	73862612	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr15:73862612G>A	ENST00000351217.6	-	5	1563	c.645C>T	c.(643-645)ctC>ctT	p.L215L	NPTN_ENST00000287226.8_Intron|NPTN_ENST00000345330.4_Silent_p.L331L|NPTN_ENST00000562924.1_Silent_p.L215L|NPTN_ENST00000563691.1_Silent_p.L331L|NPTN_ENST00000542234.1_Silent_p.L126L|NPTN_ENST00000545878.1_Silent_p.L331L	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	331	Ig-like 2.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCCGCACCCTGAGGACAGTGA	0.512000													5	74					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161360	40161360	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr22:40161360C>T	ENST00000325157.6	-	6	1337	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	363										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGAGTGTTTCTACAGAGGCC	0.423000													21	81					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450526	155450526	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:155450526C>G	ENST00000368346.3	-	3	2774	c.2135G>C	c.(2134-2136)aGa>aCa	p.R712T	ASH1L_ENST00000392403.3_Missense_Mutation_p.R712T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	712					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAA	0.403000													5	65					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6969135	6969135	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr4:6969135C>T	ENST00000409757.4	+	3	951	c.827C>T	c.(826-828)tCa>tTa	p.S276L	TBC1D14_ENST00000410031.1_Missense_Mutation_p.S48L|TBC1D14_ENST00000448507.1_Missense_Mutation_p.S276L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	276						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CAGAAGGATTCAAAGAGAATA	0.393000													5	74					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123220760	123220760	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr9:123220760G>A	ENST00000349780.4	-	20	2522	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	CDK5RAP2_ENST00000359309.3_Silent_p.F781F|CDK5RAP2_ENST00000360190.4_Silent_p.F781F|CDK5RAP2_ENST00000360822.3_Silent_p.F749F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	781					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTTCTCATTGAACAAAGGGG	0.463000													12	45					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69269714	69269714	+	Silent	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chrX:69269714G>A	ENST00000276101.3	-	1	74	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	23						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCAAGGCACTGAAGGACCACT	0.522000													4	25					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130568	45130568	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr20:45130568G>C	ENST00000457685.2	-	6	2619	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	ZNF334_ENST00000347606.4_Missense_Mutation_p.F470L|ZNF334_ENST00000593880.1_Missense_Mutation_p.F493L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACTTATGGCAGAAAAATTTCC	0.353000													16	135					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343273	118343273	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr11:118343273C>G	ENST00000534358.1	+	3	1422	c.1399C>G	c.(1399-1401)Cag>Gag	p.Q467E	KMT2A_ENST00000354520.4_Missense_Mutation_p.Q467E|KMT2A_ENST00000389506.5_Missense_Mutation_p.Q467E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGCAGCTTCTCAGCACTCCTC	0.468000													19	225					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43164573	43164573	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr6:43164573G>C	ENST00000252050.4	+	11	2860	c.2776G>C	c.(2776-2778)Gag>Cag	p.E926Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E926Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E816Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	926					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCTACTCAGAGCCGCCGGG	0.537000													5	66					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277530	152277530	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr1:152277530G>A	ENST00000368799.1	-	3	9867	c.9832C>T	c.(9832-9834)Cac>Tac	p.H3278Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3278	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCTGCGTGACGAGTGCCT	0.602000									Ichthyosis				63	502					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303634	134303634	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chrX:134303634C>T	ENST00000344129.2	-	2	389	c.163G>A	c.(163-165)Gag>Aag	p.E55K	CXorf48_ENST00000276241.6_Missense_Mutation_p.E55K	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	55										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TAGATCGACTCATCAATCATG	0.403000													5	78					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757084	71757084	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr5:71757084C>G	ENST00000318442.5	-	2	730	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGGCATGCTCTTCCGTTTCC	0.567000													21	122					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100673634	100673634	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:100673634G>C	ENST00000358544.2	+	35	6147	c.6036G>C	c.(6034-6036)caG>caC	p.Q2012H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1987H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2012					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTGGCTACAGACAGTGCCTG	0.373000													10	78					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148456413	148456413	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:148456413G>C	ENST00000325222.4	+	5	780	c.501G>C	c.(499-501)tgG>tgC	p.W167C	CUL1_ENST00000602748.1_Missense_Mutation_p.W167C|CUL1_ENST00000409469.1_Missense_Mutation_p.W167C	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGGTGACTTGGAGAGACTGTC	0.388000													14	83					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045340	40045340	+	RNA	SNP	G	G	C	rs17439810	by1000genomes	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr4:40045340G>C	ENST00000381811.2	-	0	809					NR_027277.1																						TCCTGCTCCTGCCGGAAATAC	0.582000													4	32					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204354708	204354708	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr2:204354708G>C	ENST00000319170.5	-	4	630	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	RAPH1_ENST00000418114.1_Missense_Mutation_p.Q111E|RAPH1_ENST00000423104.1_Missense_Mutation_p.Q111E|RAPH1_ENST00000374488.2_Missense_Mutation_p.Q111E|RAPH1_ENST00000374489.2_Missense_Mutation_p.Q111E|RAPH1_ENST00000374493.3_Missense_Mutation_p.Q111E|RAPH1_ENST00000308091.4_Missense_Mutation_p.Q111E|RAPH1_ENST00000457812.1_Missense_Mutation_p.Q111E|RAPH1_ENST00000453034.1_Missense_Mutation_p.Q111E|RAPH1_ENST00000439222.1_Missense_Mutation_p.Q111E|RAPH1_ENST00000419464.1_Missense_Mutation_p.Q111E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	111					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTGATTTGACGCTTACTG	0.438000													30	149					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31895893	31895893	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:31895893G>C	ENST00000300870.10	+	2	287	c.78G>C	c.(76-78)aaG>aaC	p.K26N	ZNF267_ENST00000394846.3_Missense_Mutation_p.K26N	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	26	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K26N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAGCTCAGAAGAATTTGTATC	0.398000													12	110					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229886	20229886	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:20229886C>T	ENST00000418063.2	+	4	1635	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	508						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GGAGAGAATCCCTACAAATGT	0.403000													8	29					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007535	53007535	+	Silent	SNP	A	A	G			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr12:53007535A>G	ENST00000305748.3	-	5	955	c.921T>C	c.(919-921)cgT>cgC	p.R307R	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	307	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATACTGGGCACGGACCTCAG	0.582000													12	96					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197005	8197005	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr8:8197005C>T	ENST00000520004.1	-	4	2567	c.2303G>A	c.(2302-2304)tGc>tAc	p.C768Y	SGK223_ENST00000330777.4_Missense_Mutation_p.C768Y			Q86YV5	SG223_HUMAN		768							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCATCGCTGCAGGTCCTAGA	0.582000													5	54					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6631442	6631442	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr7:6631442A>T	ENST00000344417.5	+	2	625	c.358A>T	c.(358-360)Atg>Ttg	p.M120L	C7orf26_ENST00000359073.5_Missense_Mutation_p.M101L|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	120										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ACTGGTCTCCATGGCGGTGGC	0.562000													5	108					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96949359	96949359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr14:96949359C>T	ENST00000267584.4	+	16	1821	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	593					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGAAGATGCTCAGAATAGACT	0.403000													6	66					0	0	1	0	0
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													6	12	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													7	7	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944579	19944580	+	RNA	INS	-	-	T			TCGA-86-8278-01A-11D-2284-08	TCGA-86-8278-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94aaf55b-c2a1-467d-a150-170ea157dabc	48967470-a1a3-45e7-93e9-ad3c9e44879b	g.chr19:19944579_19944580insT	ENST00000591884.1	+	0	520																											GATGTTTAATCttttttttttt	0.376													2	4	---	---	---	---