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	uc001vwo.1	+	0	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V298L(1)		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	1	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	uc001bqf.2	+	9	1142	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	RCC1_uc001bqb.2_Missense_Mutation_p.E322K|RCC1_uc001bqa.2_Missense_Mutation_p.E322K|RCC1_uc001bqc.2_Missense_Mutation_p.E322K|RCC1_uc001bqe.2_Missense_Mutation_p.E339K|RCC1_uc001bqg.2_Missense_Mutation_p.E322K	NM_001048194	NP_001041659	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA.	322					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			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	1	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	uc002ehb.3	+	6	2385	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_uc002egy.3_Missense_Mutation_p.R741G|CHD9_uc002ehc.3_Missense_Mutation_p.R741G|CHD9_uc002ehd.2_Missense_Mutation_p.R267G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	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	1	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	uc010tol.2	+	2	864	c.748G>A	c.(748-750)Gac>Aac	p.D250N	NFATC4_uc010alr.3_Missense_Mutation_p.D250N|NFATC4_uc010tok.2_Missense_Mutation_p.D250N|NFATC4_uc010als.2_Missense_Mutation_p.D200N|NFATC4_uc010too.2_Missense_Mutation_p.D200N|NFATC4_uc010tom.2_Missense_Mutation_p.D200N|NFATC4_uc010ton.2_Missense_Mutation_p.D200N|NFATC4_uc010toq.2_Missense_Mutation_p.D219N|NFATC4_uc010alt.3_Missense_Mutation_p.D219N|NFATC4_uc010top.2_Missense_Mutation_p.D219N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D187N|NFATC4_uc010tor.2_Missense_Mutation_p.D187N|NFATC4_uc010tos.2_Missense_Mutation_p.D117N|NFATC4_uc010tot.2_Missense_Mutation_p.D175N|NFATC4_uc010tou.2_Missense_Mutation_p.D117N|NFATC4_uc010tov.2_Missense_Mutation_p.D175N|NFATC4_uc010tow.2_Missense_Mutation_p.D117N|NFATC4_uc010alv.3_Missense_Mutation_p.D175N|NFATC4_uc010tox.2_Missense_Mutation_p.D117N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_001198966	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.	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	1	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	uc011kuv.2	+	2	338	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc003whl.3_Missense_Mutation_p.R72C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	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	1	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	uc003qrn.2	-	3	309	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	82	Interaction with GNB1 (By similarity).				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	Golgi apparatus|cytoplasmic dynein complex|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	1	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	uc001exr.3	-	2	1115	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	PI4KB_uc001exs.3_Missense_Mutation_p.Y147C|PI4KB_uc001exu.3_Missense_Mutation_p.Y147C|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.Y147C	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	147					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|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	1	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	uc011dwm.2	-	2	1015	c.981C>G	c.(979-981)gaC>gaG	p.D327E	PTCHD4_uc011dwn.2_Missense_Mutation_p.D74E	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	327	SSD.					integral to membrane	hedgehog receptor activity										CTGCTATCCTGTCTTTGAAGG	0.433000													2	16					0	0	1	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	uc002fxe.3	-	39	6411	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L	ZZEF1_uc002fxh.3_Missense_Mutation_p.P430L|ZZEF1_uc002fxi.3_Missense_Mutation_p.P351L|ZZEF1_uc002fxj.1_Missense_Mutation_p.P729L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	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	1	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	uc002mnq.2	+	0	370	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ICAM1_uc010xle.1_Silent_p.L17L	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	17				L -> F (in Ref. 11; AAQ14902).	T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|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|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	1	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	uc002rmj.3	+	6	813	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_uc002rmi.3_Missense_Mutation_p.H203Y|SPDYA_uc002rmk.3_Missense_Mutation_p.H203Y|SPDYA_uc002rml.3_Missense_Mutation_p.H203Y	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	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	1	0	0
EPB49	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	uc022asw.1	+	3	292	c.254C>T	c.(253-255)tCg>tTg	p.S85L	EPB49_uc022asq.1_Missense_Mutation_p.S85L|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Missense_Mutation_p.S85L|EPB49_uc022ass.1_Missense_Mutation_p.S60L|EPB49_uc022ast.1_Missense_Mutation_p.S85L|EPB49_uc022asu.1_Missense_Mutation_p.S85L|EPB49_uc022asv.1_Missense_Mutation_p.S85L|EPB49_uc022asx.1_Missense_Mutation_p.S85L|EPB49_uc022asy.1_Missense_Mutation_p.S60L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	85					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	p.S85S(1)		central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCACAGCGCTCGCTGTCACCC	0.617000													37	120					0	0	1	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	uc002csu.4	-	1	656	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_uc021tbb.1_Missense_Mutation_p.R199H	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	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	1	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	uc003efe.2	-	13	1659	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	KPNA1_uc003efb.1_Missense_Mutation_p.E290K|KPNA1_uc003efc.1_Missense_Mutation_p.E290K|KPNA1_uc011bjr.1_Missense_Mutation_p.E290K|KPNA1_uc010hrh.2_Missense_Mutation_p.E290K	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	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	1	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	uc003zho.2	+	0	1342	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	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	1	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	uc003zjl.4	+	15	1995	c.1804C>T	c.(1804-1806)Cac>Tac	p.H602Y	KIAA1432_uc003zjh.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zji.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zjj.1_Missense_Mutation_p.H102Y	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	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	1	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	uc003wir.2	-	4	411	c.294C>T	c.(292-294)ctC>ctT	p.L98L	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Silent_p.L98L|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	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	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|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	1	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	uc003nsv.3	-	2	591	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_uc003nsu.3_Silent_p.F8F|POU5F1_uc021yuj.1_Silent_p.F8F|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	179	POU-specific.				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|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 SMAD protein import into nucleus|positive regulation of catenin 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	1	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	uc011den.2	+	19	2919	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_uc003lzv.3_Silent_p.L942L|WWC1_uc003lzu.3_Silent_p.L942L|WWC1_uc003lzw.3_Silent_p.L741L|WWC1_uc010jjf.1_Silent_p.L214L	NM_001161661	NP_001155133	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.	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	1	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	uc002lwp.1	+	3	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_uc002lwq.3_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	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	1	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	uc003qrt.4	-	3	525	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_uc011efs.2_Missense_Mutation_p.L72F|EZR_uc003qru.4_Missense_Mutation_p.L104F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	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	1	0	0
LOC391322	391322	broad.mit.edu	37	22	24373715	24373715	+	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.chr22:24373715G>A	uc011ajk.1	+	1	235	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_001144931	NP_001138403			Homo sapiens D-dopachrome tautomerase-like (LOC391322), mRNA.																		GGGCACCGCCGAGGACAACCG	0.662000													12	21					0	0	1	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	uc001oig.1	+	14	1676	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DPP3_uc001oif.1_Silent_p.V538V|DPP3_uc010rpe.1_Silent_p.V527V|BBS1_uc001oih.1_5'Flank	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	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	1	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	uc003cwe.3	-	1	509	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_uc003cwf.1_Silent_p.L70L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	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	1	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	uc003xoz.2	+	0	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	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	1	0	0
FAM116B	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	uc011arv.1	-	12	1188	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	372										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGGTCTTCAACCTTGAAG	0.642000													6	27					0	0	1	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	uc010nbd.1	-	4	911	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(2)		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	1	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	uc010xdi.2	-	3	551	c.460C>T	c.(460-462)Cct>Tct	p.P154S	MBD1_uc002lef.3_5'UTR|MBD1_uc002leg.3_Missense_Mutation_p.P128S|MBD1_uc010dow.2_Missense_Mutation_p.P128S|MBD1_uc010xdj.2_Missense_Mutation_p.P128S|MBD1_uc002lel.4_Missense_Mutation_p.P128S|MBD1_uc002len.3_Missense_Mutation_p.P128S|MBD1_uc002leh.4_Missense_Mutation_p.P128S|MBD1_uc002lei.4_Missense_Mutation_p.P128S|MBD1_uc002lej.4_Missense_Mutation_p.P128S|MBD1_uc002lek.4_Missense_Mutation_p.P128S|MBD1_uc002lem.4_Missense_Mutation_p.P128S|MBD1_uc021ukd.1_Missense_Mutation_p.P128S|MBD1_uc021uke.1_Missense_Mutation_p.P128S|MBD1_uc010xdk.2_Missense_Mutation_p.P128S|MBD1_uc010dox.1_Missense_Mutation_p.P128S|MBD1_uc002leo.2_Missense_Mutation_p.P128S	NM_001204137	NP_001191066	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 7, mRNA.	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	1	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	uc002sby.3	+	9	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_uc010fcp.3_Missense_Mutation_p.E257K|EHBP1_uc002sbx.2_Missense_Mutation_p.E257K|EHBP1_uc002sbz.3_Missense_Mutation_p.E257K|EHBP1_uc002scb.3_Missense_Mutation_p.E257K	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	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	1	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	uc003nhb.2	+	1	735	c.375C>T	c.(373-375)atC>atT	p.I125I	HIST1H3E_uc003nhc.4_Silent_p.I125I	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	125					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	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	1	0	0
ALG3	10195	broad.mit.edu	37	3	183966696	183966697	+	Missense_Mutation	DNP	GG	GG	AA			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.chr3:183966696_183966697GG>AA	uc003fne.2	-	0	63_64	c.32_33CC>TT	c.(31-33)tcc>tTT	p.S11F	ALG3_uc011brc.1_5'UTR|ALG3_uc011brd.1_5'UTR|ALG3_uc011bre.1_Intron|ALG3_uc011brf.1_5'UTR|ECE2_uc003fnh.4_5'Flank|ECE2_uc003fni.4_5'Flank	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	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)			CCGCGGAACCGGACCGGCCGCG	0.698000													4	7					0	0	1	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	uc002swn.4	-	15	2122	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	KANSL3_uc002swh.4_Missense_Mutation_p.S545L|KANSL3_uc002swi.4_Missense_Mutation_p.S586L|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.S572L|KANSL3_uc010fhz.3_Missense_Mutation_p.S479L|KANSL3_uc002swl.4_Missense_Mutation_p.S558L|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.S453L|KANSL3_uc002swo.3_Missense_Mutation_p.S7L	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	685																	GGCCCCTGCTGAAGCCTGCCC	0.522000													5	10					0	0	1	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	uc002gmd.1	+	5	628	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	210					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R210C(4)|p.R210L(1)		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	1	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	uc001sbe.3	+	6	1153	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	KRT18_uc009zmn.2_Missense_Mutation_p.E362K|KRT18_uc001sbg.3_Missense_Mutation_p.E362K|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|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	1	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	uc001xkf.2	+	7	839	c.762C>T	c.(760-762)atC>atT	p.I254I	RAD51B_uc001xkd.3_Silent_p.I254I|RAD51B_uc010aqr.3_Silent_p.I135I|RAD51B_uc001xke.3_Silent_p.I254I|RAD51B_uc001xkg.2_Silent_p.I254I	NM_133509	NP_598193	O15315	RA51B_HUMAN	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.	254					DNA repair|blood coagulation|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	1	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	uc001pbr.3	+	0	570	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_uc010rtm.2_Missense_Mutation_p.G35E|EED_uc001pbp.3_Missense_Mutation_p.G35E|EED_uc001pbq.3_Missense_Mutation_p.G35E	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	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	1	0	0
MATR3	9782	broad.mit.edu	37	5	138651747	138651747	+	Missense_Mutation	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.chr5:138651747A>T	uc003lec.3	+	0	3555	c.30A>T	c.(28-30)ttA>ttT	p.L10F	MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Intron|MATR3_uc010jfb.3_Intron|MATR3_uc003ldw.3_Intron|MATR3_uc003ldx.3_Intron|MATR3_uc003ldy.3_Missense_Mutation_p.L10F|MATR3_uc003ldz.3_Intron|MATR3_uc011czb.2_Intron|MATR3_uc003leb.3_Intron			P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 5, mRNA.	0						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTATATTTTATGTCTTCACT	0.388000													5	77					0	0	1	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	uc003vjy.3	+	8	1482	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_uc011knt.2_Missense_Mutation_p.F363V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.F363V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	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	1	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	uc003qrn.2	-	3	327	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	88	Interaction with GNB1 (By similarity).				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	Golgi apparatus|cytoplasmic dynein complex|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	1	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	uc002mcx.3	-	0	272	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CATSPERD_uc010duj.1_5'Flank|CATSPERD_uc002mda.3_5'Flank|LONP1_uc002mcy.3_Intron|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Missense_Mutation_p.S80L|LONP1_uc002mcz.3_Intron	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	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	1	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	uc002mgi.3	+	16	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_uc010xjm.1_Missense_Mutation_p.V885M|ARHGEF18_uc002mgh.3_Missense_Mutation_p.V885M|ARHGEF18_uc002mgj.1_Missense_Mutation_p.V680M|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1043					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|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	1	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	uc003dmg.3	-	33	5262	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1716G|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R655G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	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	1	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	uc003jos.3	+	1	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	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	1	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	uc003nub.3	+	1	278	c.159C>T	c.(157-159)ctC>ctT	p.L53L	DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Silent_p.L30L|NFKBIL1_uc011dns.2_Silent_p.L30L|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.L53L	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	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	1	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	uc002ary.1	+	4	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	580					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	p.H579Y(1)		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	1	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	uc001akp.3	+	3	335	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_uc021ofb.1_Missense_Mutation_p.M75I|TP73_uc021ofc.1_Missense_Mutation_p.M75I|TP73_uc021ofd.1_Missense_Mutation_p.M75I|TP73_uc021ofe.1_Missense_Mutation_p.M75I|TP73_uc021off.1_Missense_Mutation_p.M75I|TP73_uc010nzj.2_Missense_Mutation_p.M26I|TP73_uc021ofg.1_Missense_Mutation_p.M26I|TP73_uc021ofh.1_Missense_Mutation_p.M26I|TP73_uc021ofi.1_Missense_Mutation_p.M26I|TP73_uc001akr.3_Missense_Mutation_p.M26I|TP73_uc009vlk.2_Missense_Mutation_p.M26I|TP73_uc001aks.3_Missense_Mutation_p.M26I|TP73_uc009vll.3_Missense_Mutation_p.M4I|TP73_uc010nzk.2_Missense_Mutation_p.M4I	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	75					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|cellular response to UV|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 X-ray|response to gamma radiation	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	1	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	uc011dlo.2	-	0	330	c.248T>C	c.(247-249)gTg>gCg	p.V83A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83A(2)|p.M82I(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	1	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	uc001xdr.1	+	1	186	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TOMM20L_uc010trq.1_Non-coding_Transcript	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast)-like (TOMM20L), nuclear gene encoding mitochondrial protein, mRNA.	52					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657000													8	35					0	0	1	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	uc001tay.3	-	0	711	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_uc001taz.3_Silent_p.F77F	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	77	Rhodanese.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|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-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	1	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	uc001eoc.1	+	11	1585	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	PIAS3_uc001eod.1_Silent_p.P167P	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	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	1	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	uc004evw.3	-	9	1442	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_uc004evx.3_Missense_Mutation_p.A313T|ENOX2_uc004evy.3_Missense_Mutation_p.A313T|ENOX2_uc004evv.3_Missense_Mutation_p.A169T	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	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	1	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	uc001vgo.3	-	2	1015	c.470C>T	c.(469-471)cCg>cTg	p.P157L	THSD1_uc001vgp.3_Missense_Mutation_p.P157L|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	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	1	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	uc001jki.1	+	17	2396	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_uc001jkj.1_Missense_Mutation_p.S440L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	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	1	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	uc002kzg.3	-	0	62	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.S19L	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	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	1	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	uc001lty.3	+	0	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	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	1	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	uc010ran.2	-	3	607	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	ARFIP2_uc001mdk.3_Missense_Mutation_p.H73Y|ARFIP2_uc010ral.2_Missense_Mutation_p.H35Y|ARFIP2_uc010ram.2_Intron|ARFIP2_uc009yfe.2_3'UTR|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_001242854	NP_001229783	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.	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	p.K105*(1)		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	1	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	uc001ntl.3	-	4	2254	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	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	1	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	uc001mwy.1	+	1	150	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Missense_Mutation_p.N26S|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	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	1	0	0
MALAT1	378938	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	uc010roh.2	+	0		c.738C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		CCGTGCTGCTCCGATTTCTCG	0.537000													15	47					0	0	1	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	uc001exv.1	-	8	778	c.564G>A	c.(562-564)atG>atA	p.M188I	RFX5_uc001exw.1_Missense_Mutation_p.M188I|RFX5_uc010pcx.1_Missense_Mutation_p.M148I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	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	1	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	uc002mnq.2	+	6	1765	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM1_uc010xle.1_Silent_p.V260V|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	482					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|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|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	1	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	uc001rbi.3	+	10	1547	c.1524_splice	c.e10+1	p.S508_splice	KIAA1467_uc021qvn.1_Splice_Site	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	508						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	1	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	uc011mhj.2	+	3	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	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	1	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	uc002eap.3	+	1	2112	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_uc021tgu.1_Missense_Mutation_p.E608A	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	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	1	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	uc004avk.4	-	10	1708	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PTCH1_uc010mro.3_Missense_Mutation_p.A356V|PTCH1_uc010mrp.3_Missense_Mutation_p.A356V|PTCH1_uc010mrq.3_Missense_Mutation_p.A356V|PTCH1_uc004avl.4_Missense_Mutation_p.A356V|PTCH1_uc004avm.4_Missense_Mutation_p.A506V|PTCH1_uc010mrr.3_Missense_Mutation_p.A441V|PTCH1_uc010mrs.1_Missense_Mutation_p.A175V	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	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	1	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	uc003qln.1	+	2	845	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834	NP_006825	Q13637	RAB32_HUMAN	Homo sapiens RAB32, member RAS oncogene family (RAB32), mRNA.	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	1	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	uc001jks.4	-	0	302	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	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	1	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	uc002fxe.3	-	17	2804	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_uc002fxk.1_Missense_Mutation_p.L915F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	914							calcium ion binding|zinc ion binding	p.L914delL(2)		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	1	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	uc001llw.3	+	11	2276	c.2276A>C	c.(2275-2277)tAc>tCc	p.Y759S	GPR123_uc001llx.4_Missense_Mutation_p.Y39S			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	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	1	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	uc002kky.3	-	3	609	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_uc002kkz.3_Missense_Mutation_p.E130K	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	130	SH3.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	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	1	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	uc001sjh.3	+	19	2579	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.H125R|ERBB3_uc010sqc.2_Missense_Mutation_p.H709R|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Missense_Mutation_p.H9R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	768	Protein kinase.				Schwann cell differentiation|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|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	1	0	0
ABCA11P	79963	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	uc003gaf.4	-	2	2952	c.2726C>T	c.(2725-2727)tCt>tTt	p.S909F	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.S877F|ABCA11P_uc010ibe.3_Missense_Mutation_p.S865F	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		AAGATTTGCAGACTGTCTAAA	0.403000													15	52					0	0	1	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	uc010dmn.1	+	14	1505	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_uc010xbx.2_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.4_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dmj.3_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.4_Nonsense_Mutation_p.Q499*|DTNA_uc010dml.3_Nonsense_Mutation_p.Q442*|DTNA_uc010dmm.3_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc021uiq.1_Nonsense_Mutation_p.Q279*|DTNA_uc021uir.1_Nonsense_Mutation_p.Q222*|DTNA_uc002kyd.4_Nonsense_Mutation_p.Q124*|DTNA_uc010dmo.3_Nonsense_Mutation_p.Q124*|DTNA_uc002kye.3_Nonsense_Mutation_p.Q150*|DTNA_uc010xca.2_Nonsense_Mutation_p.Q154*|DTNA_uc010xbz.2_Nonsense_Mutation_p.Q211*	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	502					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	1	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	uc003qhu.3	+	11	1546	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	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	1	0	0
LOC100133957	100133957	broad.mit.edu	37	X	47518370	47518370	+	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:47518370G>A	uc011mlt.1	+	0	119	c.46G>A	c.(46-48)Gat>Aat	p.D16N	UXT_uc022bvp.1_Intron|UXT_uc004din.3_Intron|UXT_uc004dim.3_5'UTR|LOC100133957_uc011mls.1_Missense_Mutation_p.D16N					Homo sapiens uncharacterized LOC100133957 (LOC100133957), non-coding RNA.																		CATGTTGACCGATCCAGTTTG	0.642000													19	48					0	0	1	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	uc001bfs.4	-	2	438	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_uc010odt.2_Missense_Mutation_p.V49M	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	112					Wnt receptor signaling pathway, calcium modulating pathway|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	Golgi apparatus|cell surface|extracellular space|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	1	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	uc003hjb.3	-	0	265	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_uc003hja.3_Silent_p.V67V|NAAA_uc003hjc.4_Silent_p.V67V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_5'Flank|NAAA_uc010iiz.1_Silent_p.V67V	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	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	1	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	uc003nat.2	-	0	801	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1_uc003nas.2_5'Flank|GFOD1_uc003nav.3_5'Flank|GFOD1_uc021ylu.1_Missense_Mutation_p.I18M	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	18						extracellular region	binding|oxidoreductase activity	p.I17T(1)		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	1	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	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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	1	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	uc002mvs.2	-	3	451	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FARSA_uc010xmv.1_Missense_Mutation_p.E135K	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	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	1	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	uc001whd.3	+	6	2133	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_uc001whe.3_Missense_Mutation_p.S403F	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	527					endocytosis	coated pit|integral to membrane		p.R526H(1)		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	1	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	uc010aaa.3	+	3	700	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_uc001upp.3_Missense_Mutation_p.A123T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	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	1	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	uc001nuw.3	-	0	593	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	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	1	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	uc002mzi.4	-	14	1996	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_uc010dzp.3_Silent_p.I564I|EMR3_uc010xnv.2_Silent_p.I490I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	616					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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	1	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	uc003tpd.3	-	3	647	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_uc003tpb.3_5'UTR|FIGNL1_uc003tpc.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc003tpe.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc010kyy.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc022ada.1_Nonsense_Mutation_p.Q93*	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	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	1	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	uc002yve.3	+	1	517	c.289_splice	c.e1+1	p.S97_splice	CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	97						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						TCGCCTTCAAGAGTAGGTGCA	0.672000													8	28					0	0	1	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	uc001vix.4	-	5	1329	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_uc001viy.4_Missense_Mutation_p.D289N|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	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|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein 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	1	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	uc001eij.3	-	0	783	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	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	1	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	uc010dmi.3	-	9	2017	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_uc010xbs.2_Silent_p.S288S|NOL4_uc002kxr.4_Silent_p.S345S|NOL4_uc010xbt.2_Silent_p.S499S|NOL4_uc010dmh.3_Silent_p.S435S|NOL4_uc010xbu.2_Silent_p.S509S|NOL4_uc002kxt.4_Silent_p.S471S	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	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	1	0	0
ODZ2	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	uc010jjd.3	+	11	2292	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	ODZ2_uc003lzr.4_Silent_p.A532A|ODZ2_uc003lzt.4_Silent_p.A128A|ODZ2_uc010jje.3_Silent_p.A35A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.S763Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAGGCGCAGCGTGTGACCAGC	0.587000													4	30					0	0	1	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	uc001hpm.2	-	21	2725	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	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	1	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	uc001vql.3	-	2	1633	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	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	1	0	0
PCDHGC5	56097	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	uc003lkt.2	+	0	247	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.T26T	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582000													11	202					0	0	1	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	uc010riy.2	+	0	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	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	1	0	0
TMEM50B	757	broad.mit.edu	37	21	34837657	34837657	+	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.chr21:34837657C>T	uc002yrs.2	-	3		c.485G>A			TMEM50B_uc010gmb.2_Non-coding_Transcript	NM_006134		P56557	TM50B_HUMAN	Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388000													5	82					0	0	1	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	uc002bov.2	+	1	1539	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	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	1	0	0