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
LILRA2	11027	broad.mit.edu	37	19	55087360	55087360	+	Silent	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:55087360C>A	ENST00000251377.3	+	7	1172	c.1039C>A	c.(1039-1041)Cgg>Agg	p.R347R	LILRA2_ENST00000391737.1_Silent_p.R335R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.R347R|LILRA2_ENST00000251376.3_Silent_p.R347R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGTCAGTCACGGGGGCAGTT	0.572000													10	29					2.17888e-05	4.6522e-05	0.006214	1	0
TBC1D31	93594	broad.mit.edu	37	8	124109637	124109637	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:124109637C>T	ENST00000287380.1	+	6	877	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	TBC1D31_ENST00000309336.3_Missense_Mutation_p.H263Y|TBC1D31_ENST00000327098.5_Missense_Mutation_p.H263Y|TBC1D31_ENST00000521676.1_Missense_Mutation_p.H158Y|TBC1D31_ENST00000522420.1_Missense_Mutation_p.H158Y|TBC1D31_ENST00000378080.2_Missense_Mutation_p.H158Y	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AGCCATTCGCCATCTGGAATT	0.433000													12	41					0	0	0.013537	0	0
SGK3	23678	broad.mit.edu	37	8	67755752	67755752	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:67755752G>A	ENST00000396596.1	+	14	1258	c.1044G>A	c.(1042-1044)ggG>ggA	p.G348G	SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Silent_p.G348G|SGK3_ENST00000522398.1_Silent_p.G348G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G348G|SGK3_ENST00000521198.2_Silent_p.G348G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	348	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGTGCCTTGGGGCTGTTCTGT	0.363000													8	36					0	0	0.003080	0	0
GATA6	2627	broad.mit.edu	37	18	19762725	19762725	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr18:19762725G>T	ENST00000269216.3	+	5	1713	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	GATA6_ENST00000581694.1_Missense_Mutation_p.R479I	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	479					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TAGGTGCCCAGACCACTTGCT	0.318000													5	23					1.76689e-08	4.04593e-08	0.006214	1	0
TYW1B	441250	broad.mit.edu	37	7	72081774	72081774	+	RNA	SNP	A	A	G	rs3015854	by1000genomes	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr7:72081774A>G	ENST00000343721.5	-	0	851				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCCAGGGCACATGGGCCATGG	0.493000													6	51					0	0	0.001168	0	0
SLC22A12	116085	broad.mit.edu	37	11	64361272	64361272	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:64361272C>G	ENST00000377574.1	+	4	1574	c.827C>G	c.(826-828)tCc>tGc	p.S276C	SLC22A12_ENST00000336464.7_Missense_Mutation_p.S242C|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Missense_Mutation_p.S55C|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	276					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTTTTGTACTCCTGGTGGGTG	0.637000													7	17					0	0	0.004482	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772654	5772654	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr9:5772654C>G	ENST00000414202.2	+	24	3898	c.3707C>G	c.(3706-3708)tCt>tGt	p.S1236C	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S1120C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S1157C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1236						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)		GAAAATTTCTCTACACTCAGT	0.473000													6	54					0	0	0.001168	0	0
WDFY3	23001	broad.mit.edu	37	4	85741255	85741255	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:85741255C>A	ENST00000322366.6	-	12	2083	c.1676G>T	c.(1675-1677)gGa>gTa	p.G559V	WDFY3_ENST00000295888.4_Missense_Mutation_p.G559V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	559						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTGTTTGATCCTTGAAGAAG	0.363000													5	256					0.00198382	0.0040973	0.001984	1	0
PSG2	5670	broad.mit.edu	37	19	43579694	43579694	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:43579694G>A	ENST00000406487.1	-	3	619	c.521C>T	c.(520-522)cCg>cTg	p.P174L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	174	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTTGTGTCCGGAGTCTCAGG	0.517000													66	319					0	0	0.014410	0	0
ADNP	23394	broad.mit.edu	37	20	49508442	49508442	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:49508442C>T	ENST00000396029.3	-	5	3376	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K	ADNP_ENST00000349014.3_Missense_Mutation_p.E937K|ADNP_ENST00000371602.4_Missense_Mutation_p.E937K|ADNP_ENST00000396032.3_Missense_Mutation_p.E937K	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	937						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGAATAGTTTCGTATTTTGAA	0.423000													36	128					0	0	0.013726	0	0
CALML5	51806	broad.mit.edu	37	10	5541089	5541089	+	Silent	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:5541089G>T	ENST00000380332.3	-	1	444	c.313C>A	c.(313-315)Cgg>Agg	p.R105R		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	105	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GCCATGGCCCGCCTGAGCTCG	0.721000													8	27					3.09899e-07	6.84811e-07	0.004482	1	0
KCTD19	146212	broad.mit.edu	37	16	67331521	67331521	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:67331521G>A	ENST00000304372.5	-	7	1087	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CATATACCTCGGAAATGGTCT	0.517000													7	77					0	0	0.003080	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	16					0	0	0.004672	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269047	16269047	+	Missense_Mutation	SNP	G	G	A	rs148819837		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:16269047G>A	ENST00000375733.2	-	14	2253	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	ZBTB17_ENST00000537142.1_Missense_Mutation_p.A590V|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A672V			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	672	Interaction with HCFC1.|Interaction with MYC.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GACGGCTGTCGCTGCCAGTGC	0.652000													15	56					0	0	0.004990	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879117	3879117	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr18:3879117G>A	ENST00000315677.3	-	4	1547	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	DLGAP1_ENST00000584874.1_Silent_p.L318L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.L318L|DLGAP1_ENST00000515196.2_Silent_p.L318L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	318					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTACCTGCAGGTACTGGCAG	0.542000													14	82					0	0	0.020292	0	0
TMED6	146456	broad.mit.edu	37	16	69377389	69377389	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:69377389G>C	ENST00000288025.3	-	4	699	c.644C>G	c.(643-645)tCt>tGt	p.S215C	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	215					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CAGGATCCCAGAAAGAATAAT	0.428000													13	62					0	0	0.016723	0	0
MX2	4600	broad.mit.edu	37	21	42771168	42771168	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr21:42771168G>C	ENST00000330714.3	+	10	1502	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	440					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGTAGAAGGAGAAGAAGTTGT	0.343000													16	60					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:7578196A>T	ENST00000420246.2	-	6	785	c.653T>A	c.(652-654)gTg>gAg	p.V218E	TP53_ENST00000455263.2_Missense_Mutation_p.V218E|TP53_ENST00000269305.4_Missense_Mutation_p.V218E|TP53_ENST00000413465.2_Missense_Mutation_p.V218E|TP53_ENST00000445888.2_Missense_Mutation_p.V218E|TP53_ENST00000359597.4_Missense_Mutation_p.V218E|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATAGGGCACCACCACACT	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	17					0	0	0.014758	0	0
FBN1	2200	broad.mit.edu	37	15	48808511	48808511	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr15:48808511G>T	ENST00000316623.5	-	11	1651	c.1196C>A	c.(1195-1197)cCa>cAa	p.P399Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	399					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGATATTCTGGTCTCCCAGG	0.502000													17	64					9.16793e-09	2.1302e-08	0.004990	1	0
GYG1	2992	broad.mit.edu	37	3	148714138	148714138	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:148714138G>C	ENST00000345003.4	+	3	493	c.193G>C	c.(193-195)Gac>Cac	p.D65H	GYG1_ENST00000483267.1_Missense_Mutation_p.D65H|GYG1_ENST00000484197.1_Missense_Mutation_p.D65H|GYG1_ENST00000296048.6_Missense_Mutation_p.D65H	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	65					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGATGTCTTGGACAGTGGCGA	0.413000													21	73					0	0	0.008871	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chrX:118223067C>G	ENST00000402510.2	-	11	2125	c.2126G>C	c.(2125-2127)aGc>aCc	p.S709T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TAAATCAAAGCTGAAAGCTTC	0.428000													8	20					0	0	0.003080	0	0
AKR1C1	1645	broad.mit.edu	37	10	5014868	5014868	+	Missense_Mutation	SNP	G	G	A	rs138128200		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:5014868G>A	ENST00000380872.4	+	7	965	c.773G>A	c.(772-774)cGc>cAc	p.R258H	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R258H	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						ATTGCCCTGCGCTACCAGCTA	0.617000													16	72					0	0	0.004007	0	0
FBN3	84467	broad.mit.edu	37	19	8183904	8183904	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:8183904C>T	ENST00000600128.1	-	26	3628	c.3214G>A	c.(3214-3216)Gtg>Atg	p.V1072M	FBN3_ENST00000601739.1_Missense_Mutation_p.V1072M|FBN3_ENST00000270509.2_Missense_Mutation_p.V1072M			Q75N90	FBN3_HUMAN	fibrillin 3	1072	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCGTCCACGTCTGAAGGT	0.617000													11	23					0	0	0.010729	0	0
ADAD1	132612	broad.mit.edu	37	4	123301363	123301363	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:123301363T>A	ENST00000296513.2	+	3	324	c.139T>A	c.(139-141)Tcc>Acc	p.S47T	ADAD1_ENST00000388724.2_Missense_Mutation_p.S47T|ADAD1_ENST00000388725.2_Missense_Mutation_p.S29T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	47					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACGGCCTGTCCAAGATGGC	0.463000													12	40					0	0	0.020292	0	0
TMEM5	10329	broad.mit.edu	37	12	64202765	64202765	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:64202765G>A	ENST00000537373.1	+	6	1393	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TMEM5_ENST00000261234.6_Missense_Mutation_p.E409K|TMEM5-AS1_ENST00000546214.1_RNA	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	409						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGAAAAAATTGAAAGAAGAAA	0.299000													6	30					0	0	0.001168	0	0
CTNND2	1501	broad.mit.edu	37	5	11159742	11159742	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr5:11159742C>T	ENST00000304623.8	-	12	2294	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	CTNND2_ENST00000458100.2_Missense_Mutation_p.R269Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R365Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R702Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R611Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	702					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGTATTTTCCGATCATCCTG	0.552000													38	55					0	0	0.005524	0	0
DOCK5	80005	broad.mit.edu	37	8	25266349	25266349	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:25266349G>A	ENST00000276440.7	+	50	5341	c.5297G>A	c.(5296-5298)aGt>aAt	p.S1766N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1766						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGCCAAAGAGTCTCCAGTTG	0.498000													13	15					0	0	0.013537	0	0
RHAG	6005	broad.mit.edu	37	6	49582516	49582516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr6:49582516C>A	ENST00000371175.4	-	5	717	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.E231*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	231					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCCAGGTTCAGCAATGGCC	0.502000													26	59					8.24728e-16	2.00472e-15	0.004656	1	0
MMP9	4318	broad.mit.edu	37	20	44642386	44642386	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:44642386G>A	ENST00000372330.3	+	10	1720	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	567	Hemopexin-like 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCGCAAGCTGGACTCGGTCT	0.607000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	0.001168	0	0
KIF3B	9371	broad.mit.edu	37	20	30919058	30919058	+	Missense_Mutation	SNP	C	C	T	rs141907829	by1000genomes	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:30919058C>T	ENST00000375712.3	+	9	2347	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	KIF3B_ENST00000418717.2_Missense_Mutation_p.S353F	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	727	Globular.|Poly-Ser.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATCCTCCTCCTCTTCCTCA	0.498000													12	33					0	0	0.013537	0	0
ACIN1	22985	broad.mit.edu	37	14	23559758	23559758	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:23559758C>T	ENST00000262710.1	-	3	790	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ACIN1_ENST00000555053.1_Missense_Mutation_p.E155K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E97K|ACIN1_ENST00000457657.1_Missense_Mutation_p.E155K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	155	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCGAGCTTCACGTTCCAGA	0.453000													8	24					0	0	0.003080	0	0
MMP9	4318	broad.mit.edu	37	20	44642382	44642382	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:44642382A>G	ENST00000372330.3	+	10	1716	c.1697A>G	c.(1696-1698)aAg>aGg	p.K566R	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	566					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTGCCCCGCAAGCTGGACTCG	0.612000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0.001984	0	0
COG4	25839	broad.mit.edu	37	16	70557413	70557413	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:70557413G>C	ENST00000323786.5	-	1	55	c.34C>G	c.(34-36)Ccg>Gcg	p.P12A	COG4_ENST00000393612.4_Missense_Mutation_p.P8A|COG4_ENST00000564653.1_Missense_Mutation_p.P12A	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	8	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GACAGCTTCGGAGGCGAATCA	0.647000													14	56					0	0	0.020292	0	0
MTM1	4534	broad.mit.edu	37	X	149818252	149818252	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chrX:149818252A>G	ENST00000370396.2	+	10	985	c.931A>G	c.(931-933)Att>Gtt	p.I311V	MTM1_ENST00000543350.1_Missense_Mutation_p.I196V|MTM1_ENST00000413012.2_Missense_Mutation_p.I274V|MTM1_ENST00000542741.1_Missense_Mutation_p.I216V|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	311	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTTAGACATTCATAATAT	0.348000													4	48					0	0	0.014758	0	0
RIMBP2	23504	broad.mit.edu	37	12	130963540	130963540	+	Translation_Start_Site	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:130963540G>A	ENST00000536002.1	-	0	429				RIMBP2_ENST00000261655.4_Missense_Mutation_p.R7W|RIMBP2_ENST00000535703.1_De_novo_Start_OutOfFrame			O15034	RIMB2_HUMAN	RIMS binding protein 2							cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCTGCCGCCGTTCAGCCGCC	0.627000													18	39					0	0	0.007413	0	0
NUP214	8021	broad.mit.edu	37	9	134027193	134027193	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr9:134027193G>C	ENST00000359428.5	+	17	2492	c.2348G>C	c.(2347-2349)aGa>aCa	p.R783T	RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.R784T|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.R773T			P35658	NU214_HUMAN	nucleoporin 214kDa	783	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGGAAGCCAGAGAACAAAAT	0.403000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								17	51					0	0	0.004990	0	0
GALR2	8811	broad.mit.edu	37	17	74071075	74071075	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:74071075C>T	ENST00000329003.3	+	1	201	c.111C>T	c.(109-111)ctC>ctT	p.L37L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	37					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCATCTTCCTCGTGGGCACCG	0.726000													4	11					0	0	0.014758	0	0
CPD	1362	broad.mit.edu	37	17	28706484	28706484	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:28706484C>T	ENST00000225719.4	+	1	562	c.486C>T	c.(484-486)cgC>cgT	p.R162R		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	162	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCTACCGCCGCGGGGACCCGC	0.701000													7	17					0	0	0.003080	0	0
SDF2	6388	broad.mit.edu	37	17	26976037	26976037	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:26976037C>A	ENST00000247020.4	-	3	904	c.606G>T	c.(604-606)ttG>ttT	p.L202F	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	202					protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTTCTGCCTTCAACAACTCAC	0.512000													16	47					1.67942e-08	3.87369e-08	0.006122	1	0
GATA6	2627	broad.mit.edu	37	18	19762738	19762738	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr18:19762738G>A	ENST00000269216.3	+	5	1726	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	GATA6_ENST00000581694.1_Missense_Mutation_p.M483I	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	483					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.M483I(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CACTTGCTATGAAAAAAGAGG	0.328000													7	26					0	0	0.008291	0	0
SLC9A5	6553	broad.mit.edu	37	16	67286737	67286737	+	Silent	SNP	T	T	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:67286737T>G	ENST00000299798.11	+	2	545	c.480T>G	c.(478-480)gcT>gcG	p.A160A	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	160					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGCAGCAGGCTGGACTTGTAG	0.582000													4	28					0	0	0.009096	0	0
SND1	27044	broad.mit.edu	37	7	127569277	127569277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr7:127569277C>T	ENST00000354725.3	+	15	1758	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	522					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCCTTTTCTTCAGCGGGCAGG	0.423000													22	47					0	0	0.014323	0	0
TP53	7157	broad.mit.edu	37	17	7578195	7578195	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:7578195C>T	ENST00000420246.2	-	6	786	c.654G>A	c.(652-654)gtG>gtA	p.V218V	TP53_ENST00000455263.2_Silent_p.V218V|TP53_ENST00000269305.4_Silent_p.V218V|TP53_ENST00000413465.2_Silent_p.V218V|TP53_ENST00000445888.2_Silent_p.V218V|TP53_ENST00000359597.4_Silent_p.V218V|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.V218del(5)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTCATAGGGCACCACCACAC	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	16					0	0	0.009096	0	0
ITPK1	3705	broad.mit.edu	37	14	93428702	93428702	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:93428702C>T	ENST00000267615.6	-	7	675	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	168	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCACTCACCTCGTGAGAGTTG	0.537000													6	14					0	0	0.001984	0	0
CACNG7	59284	broad.mit.edu	37	19	54417759	54417759	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:54417759G>C	ENST00000391767.1	+	3	414	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E68Q|CACNG7_ENST00000391766.1_Missense_Mutation_p.E68Q			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCCAGGTCGGGAGAAAGGTCG	0.557000													5	19					0	0	0.001168	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951372	46951372	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr21:46951372C>T	ENST00000311124.4	-	3	1032	c.880G>A	c.(880-882)Gag>Aag	p.E294K	SLC19A1_ENST00000567670.1_Missense_Mutation_p.E294K|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E254K|SLC19A1_ENST00000380010.4_Missense_Mutation_p.E294K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	294					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGGTCCACCTCGTTCCACAGG	0.662000													28	56					0	0	0.005443	0	0
HECTD4	283450	broad.mit.edu	37	12	112638499	112638499	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:112638499C>T	ENST00000550722.1	-	55	8467	c.8072G>A	c.(8071-8073)cGa>cAa	p.R2691Q	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2415Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2665Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGCAGTCCTTCGGTAGCCTGC	0.512000													10	43					0	0	0.006214	0	0
LRRK2	120892	broad.mit.edu	37	12	40619404	40619404	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:40619404G>A	ENST00000298910.7	+	2	257	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	LRRK2_ENST00000343742.2_Missense_Mutation_p.V67I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	67					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTGTTGATCGTCTTGGACTC	0.458000													12	24					0	0	0.016723	0	0
NARG2	79664	broad.mit.edu	37	15	60741808	60741808	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr15:60741808G>A	ENST00000261520.4	-	10	1592	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F	NARG2_ENST00000439632.1_Missense_Mutation_p.S316F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	453						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TAAACTTCTAGAATTAGCAGA	0.443000													17	47					0	0	0.006122	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591773	60591773	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:60591773G>T	ENST00000406854.1	+	9	3438	c.2884G>T	c.(2884-2886)Gcc>Tcc	p.A962S	PCNXL4_ENST00000404681.2_Missense_Mutation_p.A962S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A728S|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A169S|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A728S					pecanex-like 4 (Drosophila)																		GGAAGAAATTGCCAAGGACAA	0.353000													13	36					0.00010058	0.000211888	0.013537	1	0
TTN	7273	broad.mit.edu	37	2	179463516	179463516	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr2:179463516G>A	ENST00000589042.1	-	291	57145	c.56921C>T	c.(56920-56922)gCa>gTa	p.A18974V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10101V|TTN_ENST00000591111.1_Missense_Mutation_p.A17333V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16406V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10034V|TTN_ENST00000460472.2_Missense_Mutation_p.A9909V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17333	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCAGACTTGCTGGACCCAC	0.433000													22	140					0	0	0.014323	0	0
DACH1	1602	broad.mit.edu	37	13	72147054	72147054	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr13:72147054T>A	ENST00000305425.4	-	4	1645	c.1223A>T	c.(1222-1224)aAc>aTc	p.N408I	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.N460I|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	458					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTGAGGTGGTTCATCTGGCT	0.443000													7	45					0	0	0.001984	0	0
ZNF707	286075	broad.mit.edu	37	8	144776541	144776541	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:144776541C>T	ENST00000532205.1	+	8	1856	c.957C>T	c.(955-957)gcC>gcT	p.A319A	ZNF707_ENST00000532158.1_Silent_p.A319A|ZNF707_ENST00000358656.4_Silent_p.A319A|ZNF707_ENST00000454097.1_Silent_p.A319A|ZNF707_ENST00000418203.2_Silent_p.A319A			Q96C28	ZN707_HUMAN	zinc finger protein 707	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACACCTGTGCCGAGTGCGGCA	0.642000													6	17					0	0	0.001168	0	0
SNX30	401548	broad.mit.edu	37	9	115600832	115600832	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr9:115600832T>G	ENST00000374232.3	+	6	1033	c.869T>G	c.(868-870)tTg>tGg	p.L290W		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	290					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGAGCGCCTTGGAGGGTGAG	0.512000													20	46					0	0	0.010504	0	0
CCT6B	10693	broad.mit.edu	37	17	33266325	33266325	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:33266325C>T	ENST00000314144.5	-	10	1205	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CCT6B_ENST00000436961.3_Missense_Mutation_p.E319K|CCT6B_ENST00000421975.3_Missense_Mutation_p.E327K	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	364					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACACACTCCTCAATAAAAGTG	0.343000													16	66					0	0	0.004007	0	0
SMAD4	4089	broad.mit.edu	37	18	48591925	48591925	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr18:48591925G>C	ENST00000342988.3	+	9	1626	c.1088G>C	c.(1087-1089)tGt>tCt	p.C363S	SMAD4_ENST00000588745.1_Missense_Mutation_p.C267S|SMAD4_ENST00000398417.2_Missense_Mutation_p.C363S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	363	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATCGCTTTTGTTTGGGTCAA	0.418000													20	36					0	0	0.012319	0	0
BCAR3	8412	broad.mit.edu	37	1	94140409	94140409	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:94140409G>A	ENST00000370244.1	-	4	366	c.78C>T	c.(76-78)gaC>gaT	p.D26D	BCAR3_ENST00000260502.6_Silent_p.D26D|BCAR3_ENST00000370243.1_Silent_p.D26D	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	26					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGCTCAGAAGGTCCATGGATG	0.522000													10	28					0	0	0.008291	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	8					0	0	0.014758	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281696	71281696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:71281696G>C	ENST00000335793.3	-	2	1338	c.944C>G	c.(943-945)tCa>tGa	p.S315*	CDC42EP4_ENST00000581014.1_Silent_p.L47L|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S245*			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	315					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CAGGATGCCTGAGGTGCAGCT	0.687000													12	51					0	0	0.013537	0	0
HRH3	11255	broad.mit.edu	37	20	60791706	60791706	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:60791706G>A	ENST00000340177.5	-	3	978	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	HRH3_ENST00000317393.6_Missense_Mutation_p.R232W	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	232					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCATCCAGCCGGAGGCGGGTG	0.672000													8	18					0	0	0.016723	0	0
STAB1	23166	broad.mit.edu	37	3	52549520	52549520	+	Nonsense_Mutation	SNP	C	C	T	rs5848954		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:52549520C>T	ENST00000321725.6	+	37	4022	c.3946C>T	c.(3946-3948)Cag>Tag	p.Q1316*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1316					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAAGAAGATCCAGGTTTGCCC	0.597000													7	25					0	0	0.003080	0	0
CDH17	1015	broad.mit.edu	37	8	95201434	95201434	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:95201434G>A	ENST00000027335.3	-	3	255	c.131C>T	c.(130-132)cCg>cTg	p.P44L	CDH17_ENST00000441892.2_Missense_Mutation_p.P44L|CDH17_ENST00000450165.2_Missense_Mutation_p.P44L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	44	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AATTTGACTCGGTTCTTGGCC	0.393000													8	33					0	0	0.003080	0	0
NUDT11	55190	broad.mit.edu	37	X	51239169	51239169	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chrX:51239169T>C	ENST00000375992.3	-	1	279	c.128A>G	c.(127-129)gAc>gGc	p.D43G		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	43	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					GATCCAGCGGTCCGGGTACCG	0.677000										HNSCC(48;0.14)			6	4					0	0	0.001984	0	0
KMT2D	8085	broad.mit.edu	37	12	49448705	49448705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:49448705G>A	ENST00000301067.7	-	2	153	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGTCTCCTGAAGCCTGGGA	0.527000													28	92					0	0	0.007291	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845557	106845557	+	RNA	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:106845557G>T	ENST00000390617.2	-	0	131																											CTGCACAGGAGAGTCTCAGGG	0.567000													41	139					2.54651e-27	6.38648e-27	0.006999	1	0
CHST15	51363	broad.mit.edu	37	10	125769694	125769694	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:125769694C>T	ENST00000346248.5	-	8	2299	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N	CHST15_ENST00000435907.1_Missense_Mutation_p.D553N	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	553					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AACGCCTCATCCGCGAGGACC	0.577000													7	35					0	0	0.001984	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435432	18435432	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:18435432C>T	ENST00000433979.1	+	2	533	c.417C>T	c.(415-417)tcC>tcT	p.S139S	PIK3C2G_ENST00000538779.1_Silent_p.S139S|PIK3C2G_ENST00000535651.1_Silent_p.S139S|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Silent_p.S139S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	139					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGATGATTCCAGATTCAGTA	0.338000													11	53					0	0	0.008291	0	0
GSTA2	2939	broad.mit.edu	37	6	52622666	52622666	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr6:52622666C>G	ENST00000493422.1	-	2	235	c.80G>C	c.(79-81)gGa>gCa	p.G27A		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	27	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TACCTCTACTCCAGCTGCAGC	0.478000													39	82					0	0	0.007835	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606354	1606354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:1606354G>T	ENST00000382171.2	-	1	159	c.126C>A	c.(124-126)tgC>tgA	p.C42*	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	42	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CGGGCACACAGCAGCTGGAGC	0.682000													31	221					1.55811e-20	3.84658e-20	0.008361	1	0
AASDH	132949	broad.mit.edu	37	4	57204807	57204807	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:57204807C>A	ENST00000205214.6	-	15	3238	c.3058G>T	c.(3058-3060)Gtc>Ttc	p.V1020F	AASDH_ENST00000434343.2_Missense_Mutation_p.V535F|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.V920F|AASDH_ENST00000602986.1_3'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1020					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTGCATAGACCCTTGAAGTA	0.403000													16	51					1.45105e-14	3.47373e-14	0.006122	1	0
AHNAK	79026	broad.mit.edu	37	11	62284897	62284897	+	Silent	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:62284897G>T	ENST00000378024.4	-	5	17266	c.16992C>A	c.(16990-16992)ccC>ccA	p.P5664P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5664					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)				AGGTAAATTTGGGGATCTTCA	0.522000													21	100					1.00905e-13	2.39744e-13	0.008871	1	0
USP25	29761	broad.mit.edu	37	21	17198660	17198660	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr21:17198660C>A	ENST00000285681.2	+	13	1811	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	USP25_ENST00000400183.2_Missense_Mutation_p.S481Y|USP25_ENST00000285679.6_Missense_Mutation_p.S481Y|USP25_ENST00000351097.5_Intron	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	481					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTAGTGGTTCCATACCATCA	0.398000													22	61					1.1804e-14	2.84737e-14	0.021523	1	0
KIF3B	9371	broad.mit.edu	37	20	30919067	30919067	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:30919067C>G	ENST00000375712.3	+	9	2356	c.2189C>G	c.(2188-2190)tCa>tGa	p.S730*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S356*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	730	Globular.|Poly-Ser.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCTTCCTCAGGAACCCCT	0.507000													14	39					0	0	0.003163	0	0
UPF2	26019	broad.mit.edu	37	10	11990496	11990496	+	Missense_Mutation	SNP	C	C	T	rs3957628		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:11990496C>T	ENST00000356352.2	-	15	3519	c.3046G>A	c.(3046-3048)Gac>Aac	p.D1016N	UPF2_ENST00000397053.2_Missense_Mutation_p.D1016N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1016N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1016	Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GAGTCTTTGTCATTTACTAGG	0.353000													15	45					0	0	0.003163	0	0
TP73	7161	broad.mit.edu	37	1	3645962	3645962	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:3645962G>A	ENST00000378295.4	+	10	1301	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	TP73_ENST00000354437.4_Silent_p.P382P|TP73_ENST00000604074.1_Silent_p.P382P|TP73_ENST00000378285.1_Silent_p.P333P|TP73_ENST00000604479.1_Silent_p.P382P|TP73_ENST00000378290.4_Silent_p.P311P|TP73_ENST00000378288.4_Silent_p.P333P|TP73_ENST00000603362.1_Silent_p.P382P|TP73_ENST00000346387.4_Silent_p.P382P|TP73_ENST00000357733.3_Silent_p.P382P|TP73_ENST00000378280.1_Silent_p.P333P	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	382	Oligomerization (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGTTGGTGCCGCAGCCACTGG	0.592000													4	59					0	0	0.009096	0	0
ZNF536	9745	broad.mit.edu	37	19	31039856	31039856	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:31039856C>A	ENST00000355537.3	+	4	3477	c.3330C>A	c.(3328-3330)gaC>gaA	p.D1110E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCATCAGACTTCTACAAGC	0.562000													15	37					3.27435e-08	7.44385e-08	0.020292	1	0
PSMD11	5717	broad.mit.edu	37	17	30796143	30796143	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:30796143C>G	ENST00000261712.3	+	6	838	c.575C>G	c.(574-576)tCt>tGt	p.S192C	PSMD11_ENST00000457654.2_Missense_Mutation_p.S192C	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GCCTTAACTTCTGCTCGAACC	0.498000													9	35					0	0	0.004482	0	0
TPTE	7179	broad.mit.edu	37	21	10910343	10910343	+	Silent	SNP	A	A	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr21:10910343A>T	ENST00000298232.7	-	21	1726	c.1359T>A	c.(1357-1359)ccT>ccA	p.P453P	TPTE_ENST00000342420.5_Silent_p.P433P|TPTE_ENST00000361285.4_Silent_p.P471P|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	471	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCATACAGAGGTAGACCGT	0.338000													11	76					0	0	0.016723	0	0
HKDC1	80201	broad.mit.edu	37	10	71008449	71008449	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:71008449T>G	ENST00000354624.5	+	10	1668	c.1535T>G	c.(1534-1536)cTg>cGg	p.L512R	HKDC1_ENST00000395086.2_Missense_Mutation_p.L512R|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	512					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCAGGATGCTGCCCACCTAC	0.642000													8	23					0	0	0.003080	0	0
SCN10A	6336	broad.mit.edu	37	3	38835307	38835307	+	Silent	SNP	C	C	T	rs138298994		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:38835307C>T	ENST00000449082.2	-	1	194	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	65					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCATAGAACTTGGGCAGCT	0.542000													16	113					0	0	0.004007	0	0
SNRNP70	6625	broad.mit.edu	37	19	49589800	49589800	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:49589800G>A	ENST00000221448.5	+	2	325	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_ENST00000598441.1_Silent_p.P43P	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	43					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532000													6	263					0	0	0.001168	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385718	21385718	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr22:21385718G>A	ENST00000382932.2	-	2	451	c.384C>T	c.(382-384)atC>atT	p.I128I	SLC7A4_ENST00000403586.1_Silent_p.I128I|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	128					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGGCGCCACCGATGATGTATT	0.607000													6	16					0	0	0.003080	0	0
OPCML	4978	broad.mit.edu	37	11	132399055	132399055	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:132399055G>A	ENST00000331898.7	-	3	1004	c.426C>T	c.(424-426)tcC>tcT	p.S142S	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.S142S|OPCML_ENST00000524381.1_Silent_p.S135S|OPCML_ENST00000374778.4_Silent_p.S101S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGTCTGAGGAGATATTCA	0.443000													11	30					0	0	0.008291	0	0
GGT6	124975	broad.mit.edu	37	17	4461929	4461929	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:4461929G>A	ENST00000301395.3	-	3	826	c.767C>T	c.(766-768)tCg>tTg	p.S256L	GGT6_ENST00000574154.1_Missense_Mutation_p.S288L|GGT6_ENST00000573591.1_Missense_Mutation_p.S140L|GGT6_ENST00000381550.3_Missense_Mutation_p.S294L	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	288					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGGCACAGCCGAGGGCACCTC	0.657000													5	8					0	0	0.014758	0	0
ZNF623	9831	broad.mit.edu	37	8	144732572	144732572	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr8:144732572G>C	ENST00000501748.2	+	1	619	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZNF623_ENST00000526926.1_Missense_Mutation_p.R137T|ZNF623_ENST00000458270.2_Missense_Mutation_p.R137T	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTGGAGAGAGACTCTACGTC	0.488000													15	31					0	0	0.003163	0	0
COL6A3	1293	broad.mit.edu	37	2	238289917	238289917	+	Missense_Mutation	SNP	C	C	T	rs139498556	byFrequency	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr2:238289917C>T	ENST00000295550.4	-	5	1990	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.R307Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R307Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTCATTTTCCGCACAGCGGT	0.527000													47	68					0	0	0.014410	0	0
BEND4	389206	broad.mit.edu	37	4	42145753	42145753	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:42145753A>C	ENST00000502486.1	-	3	1325	c.746T>G	c.(745-747)tTc>tGc	p.F249C	BEND4_ENST00000504360.1_Missense_Mutation_p.F245C	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	249										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAGTCAGTGAAAACCCTCAA	0.478000													5	15					0	0	0.014758	0	0
OLIG2	10215	broad.mit.edu	37	21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr21:34399432T>G	ENST00000333337.3	+	1	1190	c.262T>G	c.(262-264)Tcg>Gcg	p.S88A	OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A|AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						GTCTACGTCGTCGGCGGCTGC	0.632000			T	TRA@	T-ALL								3	13					0	0	0.004672	0	0
GOLGB1	2804	broad.mit.edu	37	3	121435721	121435721	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:121435721G>C	ENST00000393667.3	-	9	1261	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S379C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	379					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAAAATATGAGAGGTCTTCTC	0.438000													16	46					0	0	0.003163	0	0
DMXL1	1657	broad.mit.edu	37	5	118506822	118506822	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr5:118506822G>A	ENST00000311085.8	+	24	6416	c.6336G>A	c.(6334-6336)ctG>ctA	p.L2112L	DMXL1_ENST00000539542.1_Silent_p.L2112L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2112										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGAAACAACTGAGAGAAAATT	0.383000													19	55					0	0	0.012319	0	0
PAQR3	152559	broad.mit.edu	37	4	79856301	79856301	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:79856301A>G	ENST00000512733.1	-	2	535	c.322T>C	c.(322-324)Tgt>Cgt	p.C108R	PAQR3_ENST00000380645.4_Missense_Mutation_p.C108R|PAQR3_ENST00000295462.3_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	108						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CAAATAGAACAAATTACAAAA	0.408000													42	131					0	0	0.009718	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325666	99325666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:99325666G>T	ENST00000408927.3	+	7	789	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	RAP1GDS1_ENST00000380158.4_Nonsense_Mutation_p.E178*|RAP1GDS1_ENST00000339360.5_Nonsense_Mutation_p.E227*|RAP1GDS1_ENST00000264572.7_Nonsense_Mutation_p.E135*|RAP1GDS1_ENST00000408900.3_Nonsense_Mutation_p.E177*|RAP1GDS1_ENST00000453712.2_Nonsense_Mutation_p.E227*	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	226							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AAACATTGCTGAAGAGCTAGT	0.303000			T	NUP98	T-ALL								16	48					1.3612e-06	2.96648e-06	0.003163	1	0
SFMBT1	51460	broad.mit.edu	37	3	52941649	52941649	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:52941649C>T	ENST00000394752.3	-	18	2389	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	SFMBT1_ENST00000358080.2_Silent_p.K669K|SFMBT1_ENST00000394750.1_Silent_p.K669K|SFMBT1_ENST00000296295.6_Silent_p.K669K	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	669					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTTTCCGCCTCTTTCTCCTCT	0.448000													10	68					0	0	0.010729	0	0
AOC2	314	broad.mit.edu	37	17	40997326	40997326	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:40997326C>G	ENST00000253799.3	+	1	710	c.683C>G	c.(682-684)tCa>tGa	p.S228*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.S228*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	228					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CATAACATCTCAGGGGTTGGT	0.602000													27	68					0	0	0.004656	0	0
ZNF99	7652	broad.mit.edu	37	19	22941631	22941631	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:22941631C>A	ENST00000397104.3	-	5	806	c.807G>T	c.(805-807)gaG>gaT	p.E269D	ZNF99_ENST00000596209.1_Missense_Mutation_p.E360D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCTCATGTTTTC	0.368000													13	49					2.27111e-07	5.05402e-07	0.013537	1	0
ARL4A	10124	broad.mit.edu	37	7	12728394	12728394	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr7:12728394G>A	ENST00000396663.1	+	2	997	c.515G>A	c.(514-516)gGa>gAa	p.G172E	ARL4A_ENST00000356797.3_Missense_Mutation_p.G172E|ARL4A_ENST00000396662.1_Missense_Mutation_p.G172E|ARL4A_ENST00000404894.1_Missense_Mutation_p.G172E|ARL4A_ENST00000396664.2_Missense_Mutation_p.G172E	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	172					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GCAATCATAGGAGATGGCCTA	0.378000													18	59					0	0	0.010504	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773592	68773592	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:68773592G>A	ENST00000309099.6	-	3	568	c.186C>T	c.(184-186)aaC>aaT	p.N62N	MRGPRF_ENST00000441623.1_Silent_p.N62N	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGACCAGCCCGTTGCCCACCA	0.612000													7	25					0	0	0.001984	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188395	70188395	+	Silent	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr2:70188395G>C	ENST00000320256.4	-	1	1002	c.426C>G	c.(424-426)ctC>ctG	p.L142L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	142					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTCTCCTCTGAGGGACTCTT	0.547000													8	28					0	0	0.003080	0	0
EPHA5	2044	broad.mit.edu	37	4	66230861	66230861	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:66230861C>A	ENST00000273854.3	-	12	2710	c.2110G>T	c.(2110-2112)Gtg>Ttg	p.V704L	EPHA5_ENST00000354839.4_Missense_Mutation_p.V682L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V541L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V705L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	704	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGATAGCCACAGGTAATTCT	0.363000										TSP Lung(17;0.13)			22	65					2.89027e-11	6.76537e-11	0.014323	1	0
LNPEP	4012	broad.mit.edu	37	5	96332174	96332174	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr5:96332174C>G	ENST00000231368.5	+	7	2180	c.1488C>G	c.(1486-1488)ttC>ttG	p.F496L	LNPEP_ENST00000395770.3_Missense_Mutation_p.F482L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	496					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGGAGTATTTCTCTTTGGAAA	0.378000													10	20					0	0	0.010729	0	0
SDF2	6388	broad.mit.edu	37	17	26976066	26976066	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:26976066C>T	ENST00000247020.4	-	3	875	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	193	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					ATGAAGATGCCTTCCATGGCT	0.502000													16	58					0	0	0.003163	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													6	21					3.59834e-05	7.63137e-05	0.001168	1	0
LRP8	7804	broad.mit.edu	37	1	53728130	53728130	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:53728130C>T	ENST00000306052.6	-	11	1863	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	LRP8_ENST00000465675.1_Missense_Mutation_p.G141R|LRP8_ENST00000354412.3_Missense_Mutation_p.G459R|LRP8_ENST00000347547.2_Missense_Mutation_p.G418R|LRP8_ENST00000371454.2_Missense_Mutation_p.G588R|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	588					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AGGGTGATTCCGTTGGGCCAT	0.542000													16	147					0	0	0.004990	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858209	9858209	+	Silent	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:9858209C>A	ENST00000396573.2	-	14	3501	c.3192G>T	c.(3190-3192)acG>acT	p.T1064T	GRIN2A_ENST00000330684.3_Silent_p.T1064T|GRIN2A_ENST00000404927.2_Silent_p.T1064T|GRIN2A_ENST00000562109.1_Silent_p.T1064T|GRIN2A_ENST00000535259.1_Silent_p.T907T|GRIN2A_ENST00000396575.2_Silent_p.T1064T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1064					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1064T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGATTTGACGTTTCTGAAA	0.502000													33	61					3.67414e-24	9.14196e-24	0.012213	1	0
THBS1	7057	broad.mit.edu	37	15	39885392	39885392	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr15:39885392G>A	ENST00000260356.5	+	18	3124	c.2959G>A	c.(2959-2961)Gtc>Atc	p.V987I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	987	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TAAAGAACTCGTCCAGACTGT	0.473000													7	45					0	0	0.003080	0	0
BCL9L	283149	broad.mit.edu	37	11	118772231	118772231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:118772231C>A	ENST00000334801.3	-	6	3185	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	741	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCACCAAACTCCATGCCCATG	0.652000													33	100					4.65686e-17	1.14075e-16	0.017118	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	70					0	0	0.009096	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	51					0	0	0.009096	0	0
ABO	28	broad.mit.edu	37	9	136131579	136131579	+	RNA	SNP	C	C	T	rs56258249		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr9:136131579C>T	ENST00000453660.2	-	0	549							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GTCCTGCCAGCGCTTGTAGGC	0.657000													3	18					0	0	0.004672	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	17					0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152286728	152286728	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:152286728C>G	ENST00000368799.1	-	3	669	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	212					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATACTCCTTCTTCATTGTCT	0.338000									Ichthyosis				32	41					0	0	0.019004	0	0
XPO1	7514	broad.mit.edu	37	2	61721203	61721203	+	Silent	SNP	T	T	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr2:61721203T>A	ENST00000401558.2	-	12	1798	c.1071A>T	c.(1069-1071)gtA>gtT	p.V357V	XPO1_ENST00000404992.2_Silent_p.V357V|XPO1_ENST00000406957.1_Silent_p.V357V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	357	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTACTTCAGATACCAACAACA	0.338000			Mis		CLL								10	72					0	0	0.008291	0	0
LRRC59	55379	broad.mit.edu	37	17	48462537	48462537	+	Silent	SNP	G	G	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr17:48462537G>C	ENST00000225972.7	-	6	853	c.618C>G	c.(616-618)ctC>ctG	p.L206L		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	206						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGGCTGCTTTGAGGGCATCAT	0.552000													35	101					0	0	0.013726	0	0
OPCML	4978	broad.mit.edu	37	11	132399057	132399057	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:132399057A>G	ENST00000331898.7	-	3	1002	c.424T>C	c.(424-426)Tcc>Ccc	p.S142P	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.S142P|OPCML_ENST00000524381.1_Missense_Mutation_p.S135P|OPCML_ENST00000374778.4_Missense_Mutation_p.S101P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATGTCTGAGGAGATATTCATG	0.433000													10	30					0	0	0.006214	0	0
EGF	1950	broad.mit.edu	37	4	110882140	110882140	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:110882140G>A	ENST00000265171.5	+	7	1629	c.1184G>A	c.(1183-1185)tGt>tAt	p.C395Y	EGF_ENST00000509793.1_Missense_Mutation_p.C353Y|EGF_ENST00000503392.1_Missense_Mutation_p.C395Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	395	EGF-like 2; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGGAAACGATGTCATCGTAAG	0.398000													14	33					0	0	0.003163	0	0
TRAV5	28688	broad.mit.edu	37	14	22217818	22217818	+	RNA	SNP	A	A	C			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:22217818A>C	ENST00000390427.3	+	0	181																											ATACTGGTATAAGCAAGAACC	0.433000													6	35					0	0	0.001168	0	0
JADE2	23338	broad.mit.edu	37	5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr5:133902013C>T	ENST00000395003.1	+	9	1356	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	PHF15_ENST00000402835.1_Missense_Mutation_p.R393C|PHF15_ENST00000282605.4_Missense_Mutation_p.R393C|PHF15_ENST00000361895.2_Missense_Mutation_p.R393C	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		393					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642000													7	44					0	0	0.003080	0	0
THAP9	79725	broad.mit.edu	37	4	83827689	83827689	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:83827689G>A	ENST00000302236.5	+	3	540	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	163							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGATGATCAAGAAGAGAAAGG	0.403000													19	63					0	0	0.006122	0	0
ADH7	131	broad.mit.edu	37	4	100336769	100336769	+	Missense_Mutation	SNP	C	C	G	rs144172801	by1000genomes	TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:100336769C>G	ENST00000437033.2	-	8	1469	c.966G>C	c.(964-966)ttG>ttC	p.L322F	ADH7_ENST00000209665.4_Missense_Mutation_p.L334F|ADH7_ENST00000482593.1_Missense_Mutation_p.L265F|ADH7_ENST00000476959.1_Missense_Mutation_p.L342F			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	334					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTCTGCTTTTCAAACCTGCAA	0.323000													19	76					0	0	0.007413	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378722	16378722	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:16378722C>T	ENST00000375679.4	+	15	1549	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	CLCNKB_ENST00000375667.3_Missense_Mutation_p.H311Y	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGTGACCCACACCATCTC	0.662000													8	103					0	0	0.003080	0	0
ZNF527	84503	broad.mit.edu	37	19	37880656	37880656	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr19:37880656C>G	ENST00000436120.2	+	5	1812	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATCTTGTCCCTAAGACTACA	0.398000													7	30					0	0	0.001984	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702832	27702832	+	Silent	SNP	G	G	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:27702832G>T	ENST00000438700.3	-	1	465	c.348C>A	c.(346-348)acC>acA	p.T116T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	116					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTAGGCAGTCGGTGTGACAGC	0.692000													13	43					0.000219431	0.000459207	0.020292	1	0
GOLGB1	2804	broad.mit.edu	37	3	121435852	121435852	+	Silent	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:121435852G>A	ENST00000393667.3	-	9	1130	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	GOLGB1_ENST00000340645.5_Silent_p.F335F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	335					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAGATTATGGAAGGATAATT	0.428000													20	61					0	0	0.010504	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467133	21467133	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:21467133G>A	ENST00000281523.2	-	6	1221	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	235						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTCCATTCCGGGCTTCTAAC	0.453000													6	50					0	0	0.001168	0	0
NTM	50863	broad.mit.edu	37	11	132204947	132204947	+	Silent	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr11:132204947C>T	ENST00000374786.1	+	7	1421	c.942C>T	c.(940-942)ggC>ggT	p.G314G	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.G325G|NTM_ENST00000427481.2_Silent_p.G316G|NTM_ENST00000374791.3_Silent_p.G314G|NTM_ENST00000425719.2_Silent_p.G325G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	314					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAGGTCCAGGCGCCGTCAGCG	0.592000													31	88					0	0	0.015359	0	0
PDZD7	79955	broad.mit.edu	37	10	102777898	102777898	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr10:102777898C>T	ENST00000370215.3	-	9	1705	c.1480G>A	c.(1480-1482)Ggg>Agg	p.G494R		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	494						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCAGGCTCCCGCTGTCCAGT	0.592000													13	75					0	0	0.013537	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718935	64718935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chrX:64718935C>T	ENST00000338957.4	+	3	872	c.805C>T	c.(805-807)Cga>Tga	p.R269*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.R258*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	258							endonuclease activity|nucleic acid binding|zinc ion binding	p.R205R(2)|p.R119R(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACACCATCCCGAAGAGTCCA	0.413000													4	80					0	0	0.009096	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410592	103410592	+	Silent	SNP	C	C	A			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr14:103410592C>A	ENST00000361246.2	-	30	4332	c.4044G>T	c.(4042-4044)gtG>gtT	p.V1348V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1348	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V1348V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCAGCCGTTTCACGGCCACAA	0.557000													18	34					3.32936e-07	7.30609e-07	0.006122	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111637	142111637	+	RNA	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr7:142111637C>T	ENST00000390378.1	-	0	98																											GCTGTCCTCTCGTTTTGATCA	0.557000													23	54					0	0	0.021523	0	0
SHOX2	6474	broad.mit.edu	37	3	157823777	157823777	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr3:157823777C>T	ENST00000389589.4	-	1	172	c.37G>A	c.(37-39)Gac>Aac	p.D13N	SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D13N|SHOX2_ENST00000425436.3_Missense_Mutation_p.D13N|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000554685.1_5'UTR	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	13					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACTTTCTGGTCAAAAGACTTG	0.632000													11	37					0	0	0.013537	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													2	4	---	---	---	---					
KLHL2	11275	broad.mit.edu	37	4	166232654	166232654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:166232654delG	ENST00000226725.6	+	11	1535	c.1276delG	c.(1276-1278)gagfs	p.E426fs	KLHL2_ENST00000506761.1_Frame_Shift_Del_p.E260fs|KLHL2_ENST00000514860.1_Frame_Shift_Del_p.E430fs|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Frame_Shift_Del_p.E329fs|KLHL2_ENST00000538127.1_Frame_Shift_Del_p.E338fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	426					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAGTCTAATGAGTGGTTTCA	0.378													24	62	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629504	187629505	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr4:187629504_187629505delCC	ENST00000441802.2	-	2	1686_1687	c.1477_1478delGG	c.(1477-1479)ggtfs	p.G493fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	493	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCGTTCTCACCCTCATCAGGG	0.490										HNSCC(5;0.00058)			23	65	---	---	---	---					
BASP1	10409	broad.mit.edu	37	5	17275848	17275848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr5:17275848delG	ENST00000322611.3	+	2	783	c.523delG	c.(523-525)ggcfs	p.G175fs		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	175					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CTCAAAACCCGGCAGCTCGGA	0.657													10	12	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552													2	4	---	---	---	---					
NTMT1	28989	broad.mit.edu	37	9	132397695	132397696	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr9:132397695_132397696insAA	ENST00000372486.1	+	4	973_974	c.624_625insAA	c.(625-627)aacfs	p.N209fs	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.N209fs|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.N209fs|NTMT1_ENST00000482347.1_Frame_Shift_Ins_p.N121fs					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		AGAGGCAGGAGAACCTCCCCGA	0.619													29	93	---	---	---	---					
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	RNA	INS	-	-	T	rs57593482		TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													4	7	---	---	---	---					
VEZT	55591	broad.mit.edu	37	12	95660159	95660159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr12:95660159delT	ENST00000436874.1	+	5	566	c.461delT	c.(460-462)attfs	p.I154fs	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Frame_Shift_Del_p.I106fs	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	154						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTGCCTTCATTAGCTTGCTC	0.383													58	239	---	---	---	---					
C16orf74	404550	broad.mit.edu	37	16	85743879	85743884	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-			TCGA-GU-A762-01A-11D-A339-08	TCGA-GU-A762-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67a8d326-344c-4a6c-809f-cdf487468815	390fd418-00fa-4638-8f13-e8cb1d2d9475	g.chr16:85743879_85743884delGCTGCT	ENST00000602583.1	-	1	572_577	c.22_27delAGCAGC	c.(22-27)agcagcdel	p.SS8del	C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000284245.4_In_Frame_Del_p.SS20del|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.SS20del			Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	20																	CCTCGTCGTGGCTGCTGCTGCTGCTG	0.636													3	5	---	---	---	---					
