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
OR4K17	390436	broad.mit.edu	37	14	20586459	20586459	+	Silent	SNP	A	A	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:20586459A>T	ENST00000315543.4	+	1	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTGTAGATAAGTTCC	0.398000													13	44					0	0	0.013537	0	0
RCC1	1104	broad.mit.edu	37	1	28863285	28863285	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:28863285G>A	ENST00000373833.6	+	12	1249	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	322					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGGCTGAGTATGGGCG	0.612000													42	161					0	0	0.036044	0	0
CHD9	80205	broad.mit.edu	37	16	53262947	53262947	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:53262947A>G	ENST00000566029.1	+	8	2430	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000398510.3_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	741	Chromo 1.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAGATAAAAGGATCCAGCA	0.318000													2	11					0	0	0.004672	0	0
NFATC4	4776	broad.mit.edu	37	14	24839163	24839163	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24839163G>A	ENST00000413692.2	+	3	892	c.748G>A	c.(748-750)Gac>Aac	p.D250N	NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D187N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	187	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGATGCCTCTGACGAGGCAGC	0.682000													4	56					0	0	0.009096	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269372	150269372	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150269372C>T	ENST00000255945.2	+	3	389	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGAAACGCAGCAGCTC	0.478000													9	53					0	0	0.006214	0	0
DYNLT1	6993	broad.mit.edu	37	6	159058186	159058186	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058186G>A	ENST00000367088.1	-	2	2210	c.38C>T	c.(37-39)tCc>tTc	p.S13F	DYNLT1_ENST00000367089.3_Missense_Mutation_p.S82F			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	82					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCAGAAGCAGGAACTTGCTGT	0.368000													12	54					0	0	0.020292	0	0
PI4KB	5298	broad.mit.edu	37	1	151288518	151288518	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151288518T>C	ENST00000368875.2	-	3	1056	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368873.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000529142.1_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	147					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTATACAGGTATGAAATGGC	0.498000													4	82					0	0	0.014758	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847599	47847599	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:47847599G>C	ENST00000339488.4	-	3	1014	c.981C>G	c.(979-981)gaC>gaG	p.D327E		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	327	SSD.					integral to membrane	hedgehog receptor activity										CTGCTATCCTGTCTTTGAAGG	0.433000													2	16					0	0	0.004672	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937546	3937546	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3937546G>A	ENST00000381638.2	-	40	6471	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2116							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACATGAGTGGAAGGACGTG	0.493000													3	80					0	0	0.004672	0	0
ICAM1	3383	broad.mit.edu	37	19	10381886	10381886	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10381886C>T	ENST00000264832.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L17L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	17				L -> F (in Ref. 11; AAQ14902).	adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGTCCTGCTCGGGGCTCTGT	0.677000													5	19					0	0	0.014758	0	0
SPDYA	245711	broad.mit.edu	37	2	29063092	29063092	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:29063092C>T	ENST00000334056.5	+	7	796	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	203					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTCATCACAGTGGAGC	0.398000													5	37					0	0	0.014758	0	0
DMTN	2039	broad.mit.edu	37	8	21926531	21926531	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:21926531C>T	ENST00000358242.3	+	5	747	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523266.1_Missense_Mutation_p.S85L					dematin actin binding protein																		TCACAGCGCTCGCTGTCACCC	0.617000													37	120					0	0	0.013114	0	0
CLDN6	9074	broad.mit.edu	37	16	3065427	3065427	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:3065427C>T	ENST00000396925.1	-	3	1024	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H			P56747	CLD6_HUMAN	claudin 6	199					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTTGAGTAGCGGGCCATGTA	0.652000													28	88					0	0	0.037714	0	0
KPNA1	3836	broad.mit.edu	37	3	122145978	122145978	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:122145978C>T	ENST00000344337.6	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	491					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGTAGATCTCCTGGTTTTCA	0.378000													16	55					0	0	0.007413	0	0
KCNV2	169522	broad.mit.edu	37	9	2718867	2718867	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:2718867G>A	ENST00000382082.3	+	1	1366	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	376						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCAGGTGTTGCGCGTCATGC	0.667000													41	63					0	0	0.025465	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													3	108					0	0	0.014758	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757374	5757374	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:5757374C>T	ENST00000414202.2	+	17	2106	c.1915C>T	c.(1915-1917)Cac>Tac	p.H639Y	KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	639						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTACATTCCTCACCCTTTCCT	0.428000													27	201					0	0	0.030593	0	0
CDK5	1020	broad.mit.edu	37	7	150753685	150753685	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150753685G>A	ENST00000485972.1	-	5	975	c.294C>T	c.(292-294)ctC>ctT	p.L98L	CDK5_ENST00000297518.4_Silent_p.L98L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	98	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCTCAGGATCGAGGTCACCAT	0.517000													13	27					0	0	0.024245	0	0
POU5F1	5460	broad.mit.edu	37	6	31133468	31133468	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31133468G>A	ENST00000259915.8	-	3	609	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	179	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCGTTTGGCTGAATACCTTCC	0.557000			T	EWSR1	sarcoma								4	25					0	0	0.009096	0	0
WWC1	23286	broad.mit.edu	37	5	167887657	167887657	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167887657G>A	ENST00000265293.4	+	20	3328	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	942	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTTGCAGCTGAATCGGAGTG	0.517000													16	37					0	0	0.007413	0	0
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:2877814G>A	ENST00000586426.1	+	4	942	c.855G>A	c.(853-855)ccG>ccA	p.P285P	ZNF556_ENST00000307635.2_Silent_p.P286P			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517000													13	52					0	0	0.013537	0	0
EZR	7430	broad.mit.edu	37	6	159206498	159206498	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159206498G>A	ENST00000367075.3	-	5	478	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L72F|EZR_ENST00000337147.7_Missense_Mutation_p.L104F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	104	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCACTTGGAGGAAGAAAAGT	0.542000			T	ROS1	NSCLC								30	94					0	0	0.037714	0	0
ENOX2	10495	broad.mit.edu	37	X	129799694	129799694	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:129799694C>T	ENST00000338144.3	-	10	1441	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000370927.1_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	342					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCTTGGAGGCGGAATGGTAC	0.488000													4	16					0	0	0.009096	0	0
RAB32	10981	broad.mit.edu	37	6	146875728	146875728	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:146875728C>T	ENST00000367495.3	+	3	844	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	222					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAGAACAAATCCCAGTGTTGC	0.428000													10	162					0	0	0.008291	0	0
POLB	5423	broad.mit.edu	37	8	42196191	42196191	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:42196191G>A	ENST00000265421.4	+	1	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	17					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GGGAATCACCGACATGCTCAC	0.622000								DNA polymerases (catalytic subunits)					11	128					0	0	0.008291	0	0
DENND6B	414918	broad.mit.edu	37	22	50752658	50752658	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:50752658C>T	ENST00000413817.2	-	13	1187	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CCAGGGTCTTCAACCTTGAAG	0.642000													6	27					0	0	0.021553	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516117	138516117	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493000													5	135					0	0	0.021553	0	0
MBD1	4152	broad.mit.edu	37	18	47803212	47803212	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:47803212G>A	ENST00000591416.1	-	4	813	c.382C>T	c.(382-384)Cct>Tct	p.P128S	MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	128					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGCAGGGAATGAAGCT	0.602000													70	192					0	0	0.014410	0	0
EHBP1	23301	broad.mit.edu	37	2	63091877	63091877	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:63091877G>A	ENST00000263991.5	+	10	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	292						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTATCACTGAAACAGCTTC	0.299000													13	67					0	0	0.016723	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225757	26225757	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:26225757C>T	ENST00000360408.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	125					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTAAAGACATCCAGCTTGCCC	0.542000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	88					0	0	0.010818	0	0
DPP3	10072	broad.mit.edu	37	11	66263137	66263137	+	Silent	SNP	G	G	A	rs113357584		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:66263137G>A	ENST00000532677.1	+	15	2072	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000360510.2_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V|DPP3_ENST00000453114.1_Silent_p.V538V	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	538					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CGGAGGACGTGATCTACGTGA	0.617000													12	60					0	0	0.016723	0	0
KANSL3	55683	broad.mit.edu	37	2	97270558	97270558	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:97270558G>A	ENST00000599854.1	-	16	2182	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L|KANSL3_ENST00000431828.1_Missense_Mutation_p.S659L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	685																	GGCCCCTGCTGAAGCCTGCCC	0.522000													5	10					0	0	0.021553	0	0
GLP2R	9340	broad.mit.edu	37	17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:9760756C>T	ENST00000262441.5	+	6	1141	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	210					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R210C(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCACTGCACGCGCAACTACAT	0.493000													7	66					0	0	0.038147	0	0
KRT18	3875	broad.mit.edu	37	12	53346038	53346038	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:53346038G>A	ENST00000550600.1	+	7	1138	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT18_ENST00000388835.3_Missense_Mutation_p.E362K			P05783	K1C18_HUMAN	keratin 18	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAGGCCCAGGAGTATGAGGC	0.627000													4	12					0	0	0.009096	0	0
RAD51B	5890	broad.mit.edu	37	14	68758606	68758606	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:68758606C>T	ENST00000487270.1	+	8	810	c.762C>T	c.(760-762)atC>atT	p.I254I	RAD51B_ENST00000390683.3_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000471583.1_Silent_p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	254					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACAGGTTATCTTGACGAATC	0.478000								Direct reversal of damage					30	74					0	0	0.037714	0	0
EED	8726	broad.mit.edu	37	11	85956375	85956375	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:85956375G>A	ENST00000263360.6	+	1	790	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	35					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GACCTCTCTGGAGACGAGAAT	0.562000													16	35					0	0	0.028581	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636594	121636594	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:121636594T>G	ENST00000393386.2	+	9	1498	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	363	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAAGCATGAATTTTTGACAGA	0.363000													31	139					0	0	0.021022	0	0
DYNLT1	6993	broad.mit.edu	37	6	159058168	159058168	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058168G>A	ENST00000367088.1	-	2	2228	c.56C>T	c.(55-57)tCt>tTt	p.S19F	DYNLT1_ENST00000367089.3_Missense_Mutation_p.S88F			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	88					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		ACCGTCAGTAGAGCTGTCCCA	0.363000													9	51					0	0	0.008291	0	0
LONP1	9361	broad.mit.edu	37	19	5719905	5719905	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:5719905G>A	ENST00000360614.3	-	1	396	c.239C>T	c.(238-240)tCg>tTg	p.S80L	LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000590511.1_5'UTR	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	80					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGCCCCCCGAGAATGCGCC	0.761000													5	10					0	0	0.014758	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7533921	7533921	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:7533921G>A	ENST00000359920.6	+	17	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1043					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCAGGCGGCCGTGCAGCAGCA	0.687000													3	10					0	0	0.004672	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527264	64527264	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:64527264T>C	ENST00000498707.1	-	34	5572	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1744	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTTTAAGTCTTTTTACCTCC	0.383000													3	180					0	0	0.009096	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31516041	31516041	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31516041C>T	ENST00000376148.4	+	2	273	c.159C>T	c.(157-159)ctC>ctT	p.L53L	NFKBIL1_ENST00000376145.4_Silent_p.L53L	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	53					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGCCCTCCTCCAGCGACACC	0.682000													20	57					0	0	0.016522	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	87					0	0	0.041601	0	0
TP73	7161	broad.mit.edu	37	1	3624151	3624151	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:3624151G>A	ENST00000378295.4	+	4	380	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I|TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	75					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGACCAGATGAGCAGCCGCG	0.667000													21	198					0	0	0.010504	0	0
OR5V1	81696	broad.mit.edu	37	6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433000													17	147					0	0	0.033300	0	0
LAMB2	3913	broad.mit.edu	37	3	49169963	49169963	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:49169963C>T	ENST00000418109.1	-	3	374	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_ENST00000305544.4_Silent_p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	70	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662000													22	76					0	0	0.010504	0	0
DUSP6	1848	broad.mit.edu	37	12	89745586	89745586	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:89745586G>A	ENST00000279488.7	-	1	1462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_ENST00000308385.6_Silent_p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	77	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGCCGCGCGTGAAGAGCGCGC	0.662000													5	22					0	0	0.021553	0	0
PIAS3	10401	broad.mit.edu	37	1	145584527	145584527	+	Silent	SNP	T	T	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:145584527T>A	ENST00000393045.2	+	12	1584	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	PIAS3_ENST00000369298.1_Silent_p.P463P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	498					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGAGCCCTGCTATGGGCA	0.597000													8	225					0	0	0.038147	0	0
ALG3	10195	broad.mit.edu	37	3	183966697	183966697	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966697G>A	ENST00000397676.3	-	1	62	c.32C>T	c.(31-33)tCc>tTc	p.S11F	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCGGAACCGGACCGGCCGCG	0.697000													4	7					0	0	0.014758	0	0
THSD1	55901	broad.mit.edu	37	13	52971918	52971918	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:52971918G>A	ENST00000349258.4	-	3	1014	c.470C>T	c.(469-471)cCg>cTg	p.P157L	THSD1_ENST00000258613.4_Missense_Mutation_p.P157L|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	157						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACAGGAAACGGGCACAGTGG	0.498000													8	85					0	0	0.038147	0	0
BICC1	80114	broad.mit.edu	37	10	60573609	60573609	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:60573609C>T	ENST00000373886.3	+	18	2400	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	799					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGTCCCTTTCACGGTCCAAC	0.458000													40	116					0	0	0.039052	0	0
RPRD1A	55197	broad.mit.edu	37	18	33647312	33647312	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:33647312G>A	ENST00000399022.4	-	1	227	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	19	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTCTGCTGCGAGTTGCTCAA	0.637000													4	9					0	0	0.009096	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651522	1651522	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:1651522C>T	ENST00000399676.2	+	1	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	151	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGTTCTTATGGCTGC	0.667000													11	179					0	0	0.024245	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500468	6500468	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:6500468G>A	ENST00000254584.2	-	4	300	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|ARFIP2_ENST00000445086.2_Intron	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	73					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGCTGTGAGATGGATGG	0.532000													22	113					0	0	0.014323	0	0
AHNAK	79026	broad.mit.edu	37	11	62299935	62299935	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62299935G>A	ENST00000378024.4	-	5	2228	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	652					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)				CCTTTGGGTAGAGTCATATGA	0.512000													38	135					0	0	0.030466	0	0
C11orf74	119710	broad.mit.edu	37	11	36631730	36631730	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:36631730A>G	ENST00000446510.2	+	2	176	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_ENST00000334307.5_Missense_Mutation_p.N26S|C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	26										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATTCCTTAATTGTCATGAG	0.348000													14	62					0	0	0.020292	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													12	28					0	0	0.028581	0	0
MALAT1	0	broad.mit.edu	37	11	65265970	65265970	+	RNA	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:65265970C>T	ENST00000534336.1	+	0	738					NR_002819.2																						CCGTGCTGCTCCGATTTCTCG	0.537000													15	47					0	0	0.020292	0	0
RFX5	5993	broad.mit.edu	37	1	151316350	151316350	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151316350C>T	ENST00000290524.4	-	9	742	c.564G>A	c.(562-564)atG>atA	p.M188I	RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	188						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTGGGCCCATTTCTGGCT	0.527000													17	54					0	0	0.007413	0	0
PRM2	5620	broad.mit.edu	37	16	11369687	11369687	+	Nonstop_Mutation	SNP	C	C	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:11369687C>G	ENST00000435245.2	-	2	532	c.423G>C	c.(421-423)taG>taC	p.*141Y	PRM2_ENST00000241808.4_3'UTR|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						AGGGGAATTGCTATGGCCTCA	0.517000													4	16					0	0	0.009096	0	0
ICAM1	3383	broad.mit.edu	37	19	10395810	10395810	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10395810C>T	ENST00000264832.3	+	7	1771	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM1_ENST00000423829.2_Silent_p.V260V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	482					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	ATGAGATTGTCATCATCACTG	0.577000													23	76					0	0	0.018920	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621449	112621449	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621449G>A	ENST00000341068.3	-	9	1627	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTGTTCAGAGAACTTTAAAA	0.393000													5	17					0	0	0.013537	0	0
OR8H3	390152	broad.mit.edu	37	11	55890231	55890231	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55890231G>C	ENST00000313472.3	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.473000													3	230					0	0	0.004482	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224331	13224331	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:13224331G>A	ENST00000197268.8	+	10	1644		c.e10+1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCAATTCCGTGAGTGAGCC	0.517000													22	57					0	0	0.010504	0	0
ARSH	347527	broad.mit.edu	37	X	2933405	2933405	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:2933405G>A	ENST00000381130.2	+	4	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	245						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCCTCATGCTGAAGGAGG	0.398000													13	67					0	0	0.020292	0	0
ZNF646	9726	broad.mit.edu	37	16	31089468	31089468	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:31089468A>C	ENST00000394979.2	+	1	2246	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A			O15015	ZN646_HUMAN	zinc finger protein 646	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCAGAACAGAGACCACAATG	0.537000													13	84					0	0	0.013537	0	0
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:98239123G>A	ENST00000430669.2	-	11	1907	c.1322C>T	c.(1321-1323)gCt>gTt	p.A441V	PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V			Q13635	PTC1_HUMAN	patched 1	507	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428000													9	33					0	0	0.008291	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621447	112621447	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621447G>A	ENST00000341068.3	-	9	1629	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398000													5	17					0	0	0.013537	0	0
CCDC6	8030	broad.mit.edu	37	10	61666113	61666113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:61666113G>A	ENST00000263102.6	-	1	301	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	24						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGACGACTGCATGGCGGCC	0.751000			T	RET	NSCLC								16	25					0	0	0.033300	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3984759G>A	ENST00000381638.2	-	18	2864	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	914							calcium ion binding|zinc ion binding	p.L914delL(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448000													35	79					0	0	0.013726	0	0
GPR123	84435	broad.mit.edu	37	10	134910590	134910590	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:134910590A>C	ENST00000607359.1	+	12	2276	c.2276A>C	c.(2275-2277)tAc>tCc	p.Y759S	GPR123_ENST00000392607.3_Missense_Mutation_p.Y39S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTCACCTACATCGTGCAC	0.632000													8	88					0	0	0.038147	0	0
YES1	7525	broad.mit.edu	37	18	748002	748002	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:748002C>T	ENST00000584307.1	-	4	558	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	130	SH3.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GATCTTGCTTCCCACCAATCT	0.433000													31	111					0	0	0.017118	0	0
PELO	53918	broad.mit.edu	37	5	52096595	52096595	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:52096595G>A	ENST00000274311.2	+	2	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	123					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGTGGTACTGGAGCGCATCGA	0.587000													16	55					0	0	0.028581	0	0
ERBB3	2065	broad.mit.edu	37	12	56490857	56490857	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:56490857A>G	ENST00000267101.3	+	20	2743	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	768	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGGACCATGCCCACATT	0.502000													16	98					0	0	0.028581	0	0
ZNF721	170960	broad.mit.edu	37	4	435626	435626	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:435626G>A	ENST00000338977.5	-	2	2642	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGATTTGCAGACTGTCTAAA	0.403000													15	52					0	0	0.020292	0	0
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:32438301C>T	ENST00000283365.9	+	15	1684	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512000													15	80					0	0	0.038395	0	0
KIAA1244	57221	broad.mit.edu	37	6	138583995	138583995	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:138583995G>A	ENST00000251691.4	+	12	1541	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	459					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTGCGCCTTGAGGAGCTGAA	0.612000													9	35					0	0	0.004482	0	0
WNT4	54361	broad.mit.edu	37	1	22448049	22448049	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:22448049C>T	ENST00000290167.6	-	3	377	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	112					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGGCGTACACGAAGGCCGCC	0.657000													4	52					0	0	0.009096	0	0
NAAA	27163	broad.mit.edu	37	4	76861902	76861902	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:76861902G>A	ENST00000286733.4	-	1	302	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V|NAAA_ENST00000507956.1_Silent_p.V67V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	67					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTCACCCGATGACTTGCGCCA	0.687000													17	24					0	0	0.008871	0	0
GFOD1	54438	broad.mit.edu	37	6	13487069	13487069	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:13487069G>C	ENST00000379287.3	-	1	718	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	18						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCAGCGGGATGATGACAC	0.647000													16	105					0	0	0.028581	0	0
GLCE	26035	broad.mit.edu	37	15	69561469	69561469	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:69561469C>T	ENST00000261858.2	+	5	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	GLCE_ENST00000559420.2_Silent_p.T516T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	580					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTATCATACCACCCACATCA	0.502000													72	222					0	0	0.014410	0	0
FARSA	2193	broad.mit.edu	37	19	13041137	13041137	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:13041137C>T	ENST00000588025.1	-	5	663	c.523G>A	c.(523-525)Gag>Aag	p.E175K	FARSA_ENST00000314606.4_Missense_Mutation_p.E135K|FARSA_ENST00000423140.2_Missense_Mutation_p.E135K			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	135					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCTGCACCTCATCCTCCATG	0.652000													25	95					0	0	0.024334	0	0
LRP10	26020	broad.mit.edu	37	14	23346174	23346174	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:23346174C>T	ENST00000359591.4	+	7	2271	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.527_527insF	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	527					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AACCTGCGTTCTCTGCTACAG	0.622000													22	62					0	0	0.014323	0	0
ATP12A	479	broad.mit.edu	37	13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	rs149324896		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:25262595G>A	ENST00000218548.6	+	4	700	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_ENST00000381946.3_Missense_Mutation_p.A123T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGGGTGGGCGCCTTTCTCTG	0.572000													90	365					0	0	0.014410	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62494265	62494265	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62494265C>T	ENST00000301785.5	-	1	556	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.A122T	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	122	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCGGCCGCGGCCTCCATG	0.721000													20	39					0	0	0.012319	0	0
EMR3	84658	broad.mit.edu	37	19	14736376	14736376	+	Silent	SNP	G	G	A	rs147270469	by1000genomes	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:14736376G>A	ENST00000253673.5	-	15	1948	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000443157.2_Silent_p.I490I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	616					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATTTTACGATCTCTCTAA	0.403000													18	172					0	0	0.010504	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514709	50514709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:50514709G>A	ENST00000419119.1	-	2	1830	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	93					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323000													30	105					0	0	0.030593	0	0
CBR3	874	broad.mit.edu	37	21	37507778	37507778	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:37507778G>A	ENST00000290354.5	+	1	569	c.289_splice	c.e1+1	p.K96_splice	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	96						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						TCGCCTTCAAGAGTAGGTGCA	0.672000													8	28					0	0	0.004482	0	0
DIS3	22894	broad.mit.edu	37	13	73349381	73349381	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:73349381C>T	ENST00000377767.4	-	6	1055	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_ENST00000545453.1_Missense_Mutation_p.D157N|DIS3_ENST00000377780.4_Missense_Mutation_p.D289N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	319					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTCCACATCTTCTTCATTT	0.393000										Multiple Myeloma(4;0.011)			22	99					0	0	0.012319	0	0
TOMM20L	387990	broad.mit.edu	37	14	58863033	58863033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:58863033C>T	ENST00000360945.2	+	2	196	c.154C>T	c.(154-156)Caa>Taa	p.Q52*		NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	52					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657000													8	35					0	0	0.008291	0	0
ADAM30	11085	broad.mit.edu	37	1	120438365	120438365	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:120438365A>G	ENST00000369400.1	-	1	753	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	199					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGTGTTTATAGGATCCAGGA	0.408000													3	119					0	0	0.009096	0	0
NOL4	8715	broad.mit.edu	37	18	31463212	31463212	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:31463212G>A	ENST00000261592.5	-	10	2016	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000538587.1_Silent_p.S499S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000589544.1_Silent_p.S471S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	573						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						ACTCACCACTGCTGGAAGCAT	0.383000													33	159					0	0	0.021022	0	0
TENM2	57451	broad.mit.edu	37	5	167553841	167553841	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167553841G>A	ENST00000519204.1	+	11	2047	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000545108.1_Silent_p.A764A|TENM2_ENST00000520394.1_Silent_p.A532A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.A764A					teneurin transmembrane protein 2																		CAGGCGCAGCGTGTGACCAGC	0.587000													4	30					0	0	0.009096	0	0
ALG3	10195	broad.mit.edu	37	3	183966696	183966696	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966696G>A	ENST00000397676.3	-	1	63	c.33C>T	c.(31-33)tcC>tcT	p.S11S	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGGAACCGGACCGGCCGC	0.697000													4	7					0	0	0.014758	0	0
TMEM63A	9725	broad.mit.edu	37	1	226036682	226036682	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:226036682G>A	ENST00000366835.3	-	22	2373	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	701						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCACCAGGAAGGTGAACA	0.612000													4	10					0	0	0.009096	0	0
FAM155A	728215	broad.mit.edu	37	13	107823105	107823105	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:107823105C>T	ENST00000375915.2	-	3	1255	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	373						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATTCTGGTTCATCATTGGTT	0.443000													5	66					0	0	0.029380	0	0
PCDHGA12	0	broad.mit.edu	37	5	140810404	140810404	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:140810404C>T	ENST00000252085.3	+	1	220	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582000													11	202					0	0	0.008291	0	0
OR8H2	390151	broad.mit.edu	37	11	55872901	55872901	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55872901G>C	ENST00000313503.1	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.478000										HNSCC(53;0.14)			68	234					0	0	0.014410	0	0
TMEM50B	757	broad.mit.edu	37	21	34837657	34837657	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:34837657C>T	ENST00000542230.2	-	4	486	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	91						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388000													5	82					0	0	0.014758	0	0
ZNF710	374655	broad.mit.edu	37	15	90611785	90611785	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:90611785C>T	ENST00000268154.4	+	2	1667	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATGGAGTTCAGCCAGATTC	0.577000													15	167					0	0	0.024245	0	0
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					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)			CTACGTCGCCTTTTTTCCTGT	0.493													7	489	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108098397	108098397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:108098397delG	ENST00000278616.4	+	2	431	c.46delG	c.(46-48)aafs	p.E16fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.E16fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	16					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCGTCAACTAGAACATGATAG	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	77	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24635431	24635434	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24635431_24635434delCACC	ENST00000557894.1	+	9	1221_1224	c.1029_1032delCACC	c.(1027-1032)ctfs	p.LT343fs	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000396864.3_3'UTR			Q00978	IRF9_HUMAN	interferon regulatory factor 9	0					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCTTCCACCTCACCTCTTTGTTCT	0.510													8	28	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88690386	88690386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:88690386delC	ENST00000301011.5	+	11	2014	c.1814delC	c.(1813-1815)tcfs	p.S605fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	605	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTCTCTTCGTCCCCGTCCCCG	0.647													24	127	---	---	---	---					
