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
IL1RL1	9173	broad.mit.edu	37	2	102959788	102959788	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:102959788G>C	ENST00000311734.2	+	8	1222	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	IL1RL1_ENST00000409584.1_Missense_Mutation_p.E281Q|IL1RL1_ENST00000404917.2_Missense_Mutation_p.E178Q|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E295Q			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	295	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CGTGAAGGAAGAGGATTTATT	0.428000													10	145					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	89					0.184627	0.188111	1	1	0
TOMM34	10953	broad.mit.edu	37	20	43585115	43585115	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr20:43585115G>C	ENST00000372813.3	-	2	291	c.139C>G	c.(139-141)Cca>Gca	p.P47A	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	47					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTCTTCTGGGTCTGAAGAA	0.473000													6	164					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661975	6661975	+	Silent	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:6661975C>A	ENST00000299441.3	-	2	1281	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCGTAAGTCACAGCCCCAT	0.602000													5	102					1	1	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61299253	61299253	+	Silent	SNP	C	C	T	rs138089582	byFrequency	TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr20:61299253C>T	ENST00000217159.1	+	8	1834	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	SLCO4A1_ENST00000370507.1_Silent_p.D543D|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	543	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGAATGTGGACGGCCAGAAGG	0.647000													9	70					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9522664	9522664	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:9522664G>A	ENST00000396602.2	+	11	1113	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	ZNF143_ENST00000396597.3_Missense_Mutation_p.E301K|ZNF143_ENST00000396604.1_Missense_Mutation_p.E331K|ZNF143_ENST00000299606.2_Missense_Mutation_p.E304K|ZNF143_ENST00000530463.1_Missense_Mutation_p.E331K	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	332					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GTGTCCCTTCGAAGGCTGCGG	0.408000													4	94					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30001125	30001125	+	Splice_Site	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:30001125C>A	ENST00000279394.3	+	17	2847	c.2445_splice	c.e17+1	p.A815_splice		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	694	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTCACAGGCGGTGAGGCCT	0.592000													3	42					1	1	1	1	0
FGF23	8074	broad.mit.edu	37	12	4479909	4479909	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:4479909G>A	ENST00000237837.1	-	3	501	c.356C>T	c.(355-357)aCg>aTg	p.T119M		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTTTTCCAGCGTCTGGTGTTG	0.607000													9	134					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6654078	6654078	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:6654078C>T	ENST00000299441.3	-	6	3076	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	889	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGAGTTGTCATTCACATCA	0.592000													6	30					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50146580	50146580	+	RNA	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:50146580G>C	ENST00000376025.2	-	0	1153							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAATCTGTGAGATTTCACTTT	0.428000													5	75					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1984461	1984461	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:1984461T>G	ENST00000382722.5	-	17	2124	c.1762A>C	c.(1762-1764)Agt>Cgt	p.S588R	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S524R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S563R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S588R|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S473R|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S524R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	588						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGATCCACACTGTTGTAGTTA	0.473000													7	45					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036445	33036445	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr6:33036445C>T	ENST00000419277.1	-	5	894	c.765G>A	c.(763-765)cgG>cgA	p.R255R	HLA-DPA1_ENST00000428995.1_Silent_p.R255R	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	255					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCCCCTGGGCCCGGGGGTCAT	0.532000													18	143					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82875874	82875874	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr5:82875874C>G	ENST00000265077.3	+	14	10521	c.9956C>G	c.(9955-9957)tCc>tGc	p.S3319C	VCAN_ENST00000512590.2_Missense_Mutation_p.S1517C|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.S1565C|VCAN_ENST00000343200.5_Missense_Mutation_p.S2332C|VCAN_ENST00000502527.2_Missense_Mutation_p.S578C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3319	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAATCAACTCCCTGATTAGA	0.433000													6	116					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													11	12					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86310235	86310235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:86310235C>A	ENST00000263857.6	-	7	1165	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.E263*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	263					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAAAGGTGTTCGCGGGCACTG	0.453000													5	45					0.00116845	0.00121339	1	1	0
TENM1	10178	broad.mit.edu	37	X	123657297	123657297	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:123657297G>C	ENST00000422452.2	-	17	3013	c.2950C>G	c.(2950-2952)Cca>Gca	p.P984A	TENM1_ENST00000371130.3_Missense_Mutation_p.P984A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATAGGGTTTGGGCTGATAAAG	0.483000													7	128					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582408	180582408	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr5:180582408G>A	ENST00000328275.1	+	1	466	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGATAATCGATGGCTTGAT	0.498000													7	126					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730067	200730067	+	Silent	SNP	A	A	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:200730067A>G	ENST00000358823.2	+	2	510	c.240A>G	c.(238-240)ctA>ctG	p.L80L	CAMSAP2_ENST00000236925.4_Silent_p.L80L|CAMSAP2_ENST00000413307.2_Silent_p.L80L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	80						cytoplasm|microtubule	protein binding										CGGCTGAACTATACTGTCGTG	0.433000													10	156					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192019	114192019	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr10:114192019G>A	ENST00000369405.3	-	10	1540	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.L369F	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	373						integral to membrane	acyltransferase activity|zinc ion binding	p.L373I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GAATCATCAAGAATTTTGTCT	0.269000													3	22					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239532	81239532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:81239532G>A	ENST00000552864.1	-	4	662	c.460C>T	c.(460-462)Cag>Tag	p.Q154*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	154	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GATAGCAGCTGGTCTCCTCTT	0.428000													7	68					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289020	130289020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:130289020C>T	ENST00000257359.6	-	2	1594	c.888G>A	c.(886-888)tgG>tgA	p.W296*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	296	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AACGCCGCTGCCAGTTGCAGA	0.592000													6	275					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730799	6730799	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:6730799G>C	ENST00000405858.1	-	5	2315	c.1774C>G	c.(1774-1776)Ctt>Gtt	p.L592V	ZNF12_ENST00000342651.5_Missense_Mutation_p.L554V|ZNF12_ENST00000404360.1_Missense_Mutation_p.L518V|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	592					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTCGATTAAGGGCTGAATTC	0.423000													5	39					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270622	129270622	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:129270622C>G	ENST00000287295.3	-	11	1390	c.1160G>C	c.(1159-1161)aGg>aCg	p.R387T	AIFM1_ENST00000440263.1_Missense_Mutation_p.R35T|AIFM1_ENST00000460436.2_Missense_Mutation_p.R48T|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.R383T|AIFM1_ENST00000346424.2_Missense_Mutation_p.R100T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	387	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTTACCTTCCTGCCGTCTTT	0.458000													12	63					0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84035943	84035943	+	Missense_Mutation	SNP	C	C	T	rs138383287		TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:84035943C>T	ENST00000565691.1	+	11	1626	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	NECAB2_ENST00000305202.4_Missense_Mutation_p.R385W			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	385	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CACGGTGGGACGGGACTGACA	0.557000													4	227					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579703	43579703	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:43579703G>A	ENST00000406487.1	-	3	610	c.512C>T	c.(511-513)cCt>cTt	p.P171L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	171	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)				CGGAGTCTCAGGATCACAGGT	0.517000													8	329					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241494421	241494421	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:241494421C>T	ENST00000401804.1	-	3	336	c.198G>A	c.(196-198)ctG>ctA	p.L66L	ANKMY1_ENST00000403283.1_Silent_p.L145L|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Silent_p.L19L|ANKMY1_ENST00000405523.3_Silent_p.L66L|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.L66L|ANKMY1_ENST00000361678.4_Silent_p.L66L|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000406958.1_Silent_p.L66L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTGCGCCCTCAGCGGGCCCT	0.587000													14	122					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:54841756G>A	ENST00000375068.1	+	12	1695	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000347546.3_Missense_Mutation_p.E432K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000343474.6_Missense_Mutation_p.E470K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488								p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557000													4	51					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507072	74507072	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:74507072G>A	ENST00000354431.4	-	7	1734	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515C	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTAATAAACGCTCTGAAGCC	0.368000													4	73					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57909876	57909876	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:57909876C>G	ENST00000366197.5	+	3	471	c.221C>G	c.(220-222)tCa>tGa	p.S74*	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.S86*|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Nonsense_Mutation_p.77_77ins*|ZNF548_ENST00000597400.1_3'UTR|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTACAGCTTCAAAGCCCTGT	0.507000													7	67					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444735	54444735	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:54444735G>A	ENST00000391767.1	+	5	648	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	CACNG7_ENST00000391766.1_Missense_Mutation_p.V146M|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.V146M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	146					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)		CCTCTCCTTGGTGGTGGGCTT	0.587000													15	94					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137734093	137734093	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr9:137734093G>A	ENST00000371817.3	+	66	5875	c.5461G>A	c.(5461-5463)Ggt>Agt	p.G1821S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1821	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAATGACTTCGGTGAAGCGTC	0.572000													6	39					0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26251377	26251377	+	Splice_Site	SNP	G	G	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:26251377G>T	ENST00000337620.4	+	5	853		c.e5+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TCATGAAATGGTGAGTATGCA	0.368000													4	62					0.00116845	0.00121339	1	1	0
RSPO1	284654	broad.mit.edu	37	1	38082234	38082234	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:38082234G>A	ENST00000356545.2	-	5	995	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	RSPO1_ENST00000401070.1_Missense_Mutation_p.R70C|RSPO1_ENST00000401071.2_Missense_Mutation_p.R70C|RSPO1_ENST00000401068.1_Missense_Mutation_p.R70C|RSPO1_ENST00000373059.1_Missense_Mutation_p.R43C|RSPO1_ENST00000401069.1_Missense_Mutation_p.R70C	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	70					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCACCTGGCGGATGTCGTTC	0.612000													9	126					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22036746	22036746	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr22:22036746C>T	ENST00000406385.1	+	8	468	c.408C>T	c.(406-408)atC>atT	p.I136I	PPIL2_ENST00000398831.3_Silent_p.I136I|PPIL2_ENST00000492445.2_Silent_p.I136I|PPIL2_ENST00000412327.1_Silent_p.I136I|PPIL2_ENST00000456792.2_Silent_p.I115I|PPIL2_ENST00000335025.7_Silent_p.I136I			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	136					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGCTAAATATCAAGGCCAAGA	0.607000													5	59					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3736196	3736196	+	Silent	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:3736196C>G	ENST00000541714.2	+	11	1623	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	TJP3_ENST00000589378.1_Silent_p.L396L|TJP3_ENST00000587686.1_Silent_p.L406L|TJP3_ENST00000262968.9_Silent_p.L420L|TJP3_ENST00000382008.3_Silent_p.L401L|TJP3_ENST00000539908.2_Silent_p.L351L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	401						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCTTCCTCAAGGGCAAGA	0.682000													3	72					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797641	76797641	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr10:76797641G>A	ENST00000338487.5	-	3	615	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	206						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGCTGGGACCGTCGCCTCTGC	0.657000													4	102					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12025620	12025620	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:12025620C>A	ENST00000196061.4	+	14	1581	c.1554C>A	c.(1552-1554)aaC>aaA	p.N518K	PLOD1_ENST00000376369.3_Missense_Mutation_p.N565K	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	518					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGCACAACGACCTCTGGG	0.632000													12	91					1.49906e-05	1.63534e-05	1	1	0
RCOR1	23186	broad.mit.edu	37	14	103187693	103187693	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr14:103187693G>C	ENST00000262241.6	+	10	1394	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.E387Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	387	SANT 2.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GACTACAGAAGAGCAGCTTCT	0.438000													4	32					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54837360	54837360	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:54837360G>A	ENST00000375068.1	+	4	877	c.644G>A	c.(643-645)cGc>cAc	p.R215H	MAGED2_ENST00000375058.1_Missense_Mutation_p.R215H|MAGED2_ENST00000375053.2_Missense_Mutation_p.R215H|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000396224.1_Missense_Mutation_p.R215H|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000347546.3_Missense_Mutation_p.R159H|MAGED2_ENST00000218439.4_Missense_Mutation_p.R215H|MAGED2_ENST00000343474.6_Missense_Mutation_p.R197H			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	215	Arg-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TCAATGGCCCGCAGGGCTTCA	0.607000													4	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:7577082C>T	ENST00000420246.2	-	8	988	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000269305.4_Missense_Mutation_p.E286K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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)			5	46					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129826356	129826356	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr6:129826356G>A	ENST00000421865.2	+	61	8608	c.8559G>A	c.(8557-8559)atG>atA	p.M2853I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2853	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTAAGATAATGAGAAGTAAGC	0.388000													6	26					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183504042	183504042	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr3:183504042G>A	ENST00000305135.5	+	20	3061	c.2866G>A	c.(2866-2868)Gcc>Acc	p.A956T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	956					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATCACAACTGCCACTTCCCC	0.512000													4	42					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235929473	235929473	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:235929473C>G	ENST00000389794.3	-	21	6201	c.6027G>C	c.(6025-6027)ttG>ttC	p.L2009F	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L2009F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2009					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGATAATTGTCAATAATTCCA	0.403000													21	253					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76420132	76420132	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:76420132C>T	ENST00000389840.5	-	81	13437	c.13313G>A	c.(13312-13314)cGc>cAc	p.R4438H	PGS1_ENST00000262764.6_Intron|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R4410H|PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCTCCATGCGGTCCACAGG	0.557000													4	154					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100509465	100509465	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:100509465T>C	ENST00000395209.3	+	18	2556	c.2029T>C	c.(2029-2031)Ttc>Ctc	p.F677L	DRP2_ENST00000402866.1_Missense_Mutation_p.F677L|DRP2_ENST00000538510.1_Missense_Mutation_p.F677L|DRP2_ENST00000541709.1_Missense_Mutation_p.F599L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	677					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AAAGAACAAATTCCGCTCCAA	0.498000													6	53					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765541	50765541	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:50765541T>C	ENST00000404971.1	-	11	3452	c.2113A>G	c.(2113-2115)Act>Gct	p.T705A	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.T665A|NRXN1_ENST00000406859.3_Missense_Mutation_p.T665A|NRXN1_ENST00000402717.3_Missense_Mutation_p.T657A|NRXN1_ENST00000406316.2_Missense_Mutation_p.T665A|NRXN1_ENST00000405472.3_Missense_Mutation_p.T657A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	665	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCCAGCAGTACTTTGAACT	0.493000													35	383					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188757	140188757	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr5:140188757C>T	ENST00000530339.1	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T662M|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T662M	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.677000													14	109					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434239	40434239	+	Splice_Site	SNP	A	A	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:40434239A>T	ENST00000372809.5	+	13	1534		c.e13-1		MFSD2A_ENST00000480630.1_Splice_Site|MFSD2A_ENST00000372811.5_Splice_Site|MFSD2A_ENST00000420632.2_Splice_Site	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A						transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGGTCCCATAGCTTTGCAGG	0.617000													4	72					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622474	29622474	+	Silent	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:29622474C>G	ENST00000247271.4	-	2	1137	c.876G>C	c.(874-876)ctG>ctC	p.L292L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	292					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTACCACACTCAGAGAGTTAA	0.413000													14	81					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182767191	182767191	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:182767191G>C	ENST00000431877.2	+	8	1590	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	SSFA2_ENST00000320370.7_Missense_Mutation_p.E471Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E318Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E471Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	471						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGAAATGGAAGAGGTAGGTAA	0.363000													4	58					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864525	131864525	+	Silent	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:131864525G>A	ENST00000359827.3	-	20	4757	c.3795C>T	c.(3793-3795)cgC>cgT	p.R1265R	PLXNA4_ENST00000321063.4_Silent_p.R1265R			Q9HCM2	PLXA4_HUMAN	plexin A4	1265						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCACTTTCGCGGGACTTGC	0.612000													4	43					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149748340	149748340	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr5:149748340C>T	ENST00000451292.1	+	5	548	c.440C>T	c.(439-441)aCg>aTg	p.T147M	TCOF1_ENST00000513346.1_Missense_Mutation_p.T147M|TCOF1_ENST00000439160.2_Missense_Mutation_p.T147M|TCOF1_ENST00000377797.3_Missense_Mutation_p.T147M|TCOF1_ENST00000504761.2_Missense_Mutation_p.T147M|TCOF1_ENST00000323668.7_Missense_Mutation_p.T147M|TCOF1_ENST00000445265.2_Missense_Mutation_p.T147M|TCOF1_ENST00000394269.3_Missense_Mutation_p.T147M			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	147					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGGAAGACGGTGGCCAAC	0.547000													5	41					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67283861	67283861	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:67283861A>T	ENST00000355520.5	-	21	2634	c.1993T>A	c.(1993-1995)Tgc>Agc	p.C665S	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	665	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ACCTCTGGGCAGGGCTCCAAC	0.587000													6	90					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70512186	70512186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:70512186C>T	ENST00000288078.6	+	21	2885	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	FUK_ENST00000378912.2_Nonsense_Mutation_p.Q891*|FUK_ENST00000571514.1_Nonsense_Mutation_p.Q376*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	885						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGGTGGCTGGCAGGACCAAGT	0.642000													6	48					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72343394	72343394	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:72343394G>T	ENST00000333850.3	+	5	708	c.567G>T	c.(565-567)caG>caT	p.Q189H	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	189					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCTATCGACAGAGAAGAAAGT	0.343000													6	64					0.000157383	0.000168291	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85383423	85383423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr15:85383423C>T	ENST00000258888.5	+	5	1686	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	507					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTGGGGCCTCAGAGAGCCCT	0.567000													8	78					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189575	47189575	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:47189575A>C	ENST00000524782.1	-	12	1318	c.1090T>G	c.(1090-1092)Tcc>Gcc	p.S364A	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S228A|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.S257A|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.S95A	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	364	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCCCTAAGGAAAAGGGATTG	0.517000													18	47					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38048073	38048073	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr3:38048073G>C	ENST00000283713.6	+	19	2605	c.2339G>C	c.(2338-2340)aGa>aCa	p.R780T	VILL_ENST00000465644.1_Missense_Mutation_p.R498T|VILL_ENST00000383759.2_Missense_Mutation_p.R780T			O15195	VILL_HUMAN	villin-like	780					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCTGGCAGCAGAACCAGCAGC	0.662000													11	52					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46554064	46554064	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr13:46554064C>A	ENST00000242848.4	-	11	2144	c.1796G>T	c.(1795-1797)cGa>cTa	p.R599L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R599L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	599	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATAGCTACTTCGAGTTTCCCA	0.423000													7	60					2.0095e-06	2.26068e-06	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100340416	100340416	+	RNA	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr15:100340416G>A	ENST00000341853.1	-	0	510					NR_003260.1																						GTTCCCACGCGAGCGCAGGTT	0.602000													4	28					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81819645	81819645	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:81819645G>C	ENST00000359376.3	+	2	265	c.51G>C	c.(49-51)caG>caC	p.Q17H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	17					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGCCAGATCAAGAGAG	0.577000													15	67					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699869	151699869	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:151699869C>T	ENST00000392800.2	+	6	983	c.729C>T	c.(727-729)gcC>gcT	p.A243A	GALNTL5_ENST00000431418.2_Silent_p.A243A|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	243	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TGCTGCATGCCATTGCCAAGG	0.522000													10	84					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413782	105413782	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr14:105413782G>A	ENST00000333244.5	-	7	8125	c.8006C>T	c.(8005-8007)gCg>gTg	p.A2669V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2669						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCAACGCCTCGATGGA	0.562000													31	299					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79805209	79805209	+	Silent	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:79805209C>G	ENST00000331483.4	-	5	861	c.639G>C	c.(637-639)cgG>cgC	p.R213R	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Silent_p.R169R|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	213					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CAAAGTTGTTCCGGCCTTCAT	0.587000													11	63					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621349	144621349	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr8:144621349G>A	ENST00000262577.5	-	2	219	c.188C>T	c.(187-189)tCt>tTt	p.S63F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	63					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGGTGGGAAGAGTAGCCCCT	0.652000													12	146					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123006752	123006752	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:123006752C>G	ENST00000331738.7	-	2	246	c.101G>C	c.(100-102)aGa>aCa	p.R34T	RSRC2_ENST00000354654.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	34	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTTGAAGCTCTAGGAGAAAC	0.383000													4	54					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963782	148963782	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:148963782C>G	ENST00000434415.1	+	2	544	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	127					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACTTCTGGATCTTGCGGCTGC	0.672000													16	192					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739639	41739639	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:41739639C>A	ENST00000242208.4	-	2	580	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	INHBA_ENST00000442711.1_Nonsense_Mutation_p.E112*|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	112					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCATTCATTTCTGCCCTCCTT	0.567000										TSP Lung(11;0.080)			50	421					1.00221e-16	1.13936e-16	1	1	0
THAP11	57215	broad.mit.edu	37	16	67876781	67876781	+	Silent	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:67876781G>A	ENST00000303596.1	+	1	569	c.324G>A	c.(322-324)caG>caA	p.Q108Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	108	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.682000													4	71					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100479817	100479817	+	Silent	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr8:100479817C>G	ENST00000395996.1	+	24	3732	c.3621C>G	c.(3619-3621)ctC>ctG	p.L1207L	VPS13B_ENST00000358544.2_Silent_p.L1207L|VPS13B_ENST00000357162.2_Silent_p.L1207L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1207					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGTCTGTCTCCATGTTGACC	0.408000													13	93					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235584	34235584	+	RNA	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:34235584G>A	ENST00000587132.1	-	0	2443																											ATCTCTGCAGGTATAGAGATC	0.483000													6	41					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77408137	77408137	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:77408137C>T	ENST00000334955.7	+	8	2220	c.2193C>T	c.(2191-2193)agC>agT	p.S731S	RSBN1L_ENST00000445288.1_Silent_p.S461S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	731						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGCTGTAAGCAAAGCCTCCT	0.373000													4	102					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849841	54849841	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:54849841C>A	ENST00000291759.4	-	3	237	c.181G>T	c.(181-183)Gat>Tat	p.D61Y		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	61	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCCTCTTTATCCAGACGGTAC	0.542000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	130					6.40141e-05	6.91352e-05	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33481605	33481605	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:33481605C>A	ENST00000268876.5	+	6	581	c.484C>A	c.(484-486)Ctc>Atc	p.L162I	UNC45B_ENST00000378449.1_Missense_Mutation_p.L162I|UNC45B_ENST00000591048.1_Missense_Mutation_p.L162I|UNC45B_ENST00000394570.2_Missense_Mutation_p.L162I|UNC45B_ENST00000433649.1_Missense_Mutation_p.L162I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	162					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCCAACAATCTCATTGTCCT	0.547000													7	56					0.000274275	0.000290409	1	1	0
GPR152	390212	broad.mit.edu	37	11	67219123	67219123	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:67219123G>A	ENST00000312457.2	-	1	1077	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	358						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTTCACCTGAGGCTGGGCCAC	0.627000													6	47					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780577	11780577	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:11780577C>G	ENST00000381486.2	+	33	6147	c.5847C>G	c.(5845-5847)atC>atG	p.I1949M	GREB1_ENST00000396123.1_Missense_Mutation_p.I947M|GREB1_ENST00000234142.5_Missense_Mutation_p.I1949M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1949						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACGACACATCTGAGGAAGAC	0.587000													6	115					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895558	90895558	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:90895558C>T	ENST00000287934.2	+	1	1776	c.1363C>T	c.(1363-1365)Ccg>Tcg	p.P455S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	455					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGGGCTGTGCCGGCCATCAA	0.637000													4	122					0	0	1	0	0
RPL34	6164	broad.mit.edu	37	4	109543286	109543286	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr4:109543286G>A	ENST00000394668.2	+	3	157	c.91G>A	c.(91-93)Gtt>Att	p.V31I	RPL34_ENST00000506397.1_Missense_Mutation_p.V31I|RPL34_ENST00000394665.1_Missense_Mutation_p.V31I|RPL34_ENST00000394667.3_Missense_Mutation_p.V31I|RPL34_ENST00000502534.1_Missense_Mutation_p.V31I	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		TAATAGAATTGTTTACCTTTA	0.403000													6	35					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356303	48356303	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:48356303C>T	ENST00000300433.3	+	5	422	c.312C>T	c.(310-312)atC>atT	p.I104I	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Silent_p.I104I	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	104	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCTCCATCATCCCCCCAGAGA	0.647000													7	47					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661406	6661406	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:6661406T>A	ENST00000299441.3	-	2	1850	c.1439A>T	c.(1438-1440)gAg>gTg	p.E480V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCAGGGGCTCAGGTCGGTA	0.602000													4	16					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762737	130762737	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr6:130762737G>T	ENST00000392429.1	+	2	3548	c.1170G>T	c.(1168-1170)ttG>ttT	p.L390F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.L390F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L390F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	390						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTTGCATTTGCTCTCGTCAC	0.527000													7	48					0.0293803	0.0302198	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119567984	119567984	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr9:119567984C>T	ENST00000313400.4	-	13	2423	c.2323G>A	c.(2323-2325)Gga>Aga	p.G775R	ASTN2_ENST00000361209.2_Missense_Mutation_p.G724R|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G771R			O75129	ASTN2_HUMAN	astrotactin 2	775						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCATCTCTCCAAAGAGGGTA	0.478000													19	141					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43194011	43194011	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr17:43194011C>T	ENST00000322765.5	-	8	1514	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	467	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CTGGGGATGGCAGCTCCTCGG	0.697000													22	65					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626149	39626149	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr22:39626149C>T	ENST00000331163.6	-	5	1328	c.541G>A	c.(541-543)Gag>Aag	p.E181K	PDGFB_ENST00000381551.4_Missense_Mutation_p.E166K	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	181					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GCCACTGTCTCACACTTGCAT	0.607000			T	COL1A1	DFSP								12	84					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													6	165					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651575	7651575	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr12:7651575A>G	ENST00000359156.4	-	4	869	c.667T>C	c.(667-669)Ttt>Ctt	p.F223L	CD163_ENST00000396620.3_Missense_Mutation_p.F223L|CD163_ENST00000432237.2_Missense_Mutation_p.F223L|CD163_ENST00000541972.1_Missense_Mutation_p.F211L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	223	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATCATCAAACCAGATTGGT	0.428000													10	153					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34799307	34799307	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr21:34799307G>A	ENST00000290219.6	+	4	1177	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	IFNGR2_ENST00000381995.1_Missense_Mutation_p.V196I|IFNGR2_ENST00000405436.1_Missense_Mutation_p.V98I	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	177	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTGTTATTATGTCCATTACTG	0.423000													16	246					0	0	1	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976407	89976407	+	RNA	SNP	G	G	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:89976407G>T	ENST00000474213.1	+	0	313																											AGTGGGTCAGGCACTGATTTC	0.532000													12	153					2.23348e-06	2.48677e-06	1	1	0
RAD54L	8438	broad.mit.edu	37	1	46726568	46726568	+	Missense_Mutation	SNP	T	T	A	rs140122543		TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:46726568T>A	ENST00000371975.4	+	7	1321	c.647T>A	c.(646-648)gTg>gAg	p.V216E	RAD54L_ENST00000442598.1_Missense_Mutation_p.V216E	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	216	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGGCAGTGGTGGTGTCGCCT	0.527000								Direct reversal of damage;Homologous recombination					6	54					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719463	74719463	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr2:74719463G>A	ENST00000233623.5	+	11	1059	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	351							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCCATGAGCGGTTGGGTCAG	0.627000													8	59					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016704	4016704	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:4016704T>A	ENST00000294016.3	-	11	3672	c.3134A>T	c.(3133-3135)aAg>aTg	p.K1045M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1045					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.K1045M(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGGGACACCTTCAGCTGCTC	0.587000													9	225					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509712	149509712	+	RNA	SNP	C	C	G			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:149509712C>G	ENST00000378016.2	+	0	9986							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCTCGCTCCTGTGATGAC	0.627000													4	67					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19477464	19477464	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr16:19477464G>A	ENST00000396229.2	+	9	2295	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R	TMC5_ENST00000381414.4_Missense_Mutation_p.G516R|TMC5_ENST00000561503.1_Missense_Mutation_p.G157R|TMC5_ENST00000541464.1_Missense_Mutation_p.G516R|TMC5_ENST00000542583.2_Missense_Mutation_p.G516R|TMC5_ENST00000219821.5_Missense_Mutation_p.G270R|TMC5_ENST00000564959.1_Missense_Mutation_p.G199R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	516						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATCCAGCACGGGAACAGCGG	0.483000													3	32					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73941322	73941322	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:73941322G>A	ENST00000328257.8	+	6	754	c.431G>A	c.(430-432)gGg>gAg	p.G144E	PPME1_ENST00000398427.4_Missense_Mutation_p.G144E			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	144					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GCCATGTATGGGGACCTTCCT	0.458000													14	114					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151376546	151376546	+	Silent	SNP	C	C	T			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chrX:151376546C>T	ENST00000370314.4	-	7	943	c.705G>A	c.(703-705)caG>caA	p.Q235Q	GABRA3_ENST00000370311.1_Silent_p.Q235Q|GABRA3_ENST00000535043.1_Silent_p.Q235Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGAACCATCCTGTGCCACTT	0.418000													4	120					0	0	1	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	46	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)aafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													7	1005	---	---	---	---					
LRRC34	151827	broad.mit.edu	37	3	169530209	169530209	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr3:169530209delG	ENST00000522526.2	-	1	565	c.128delC	c.(127-129)ggfs	p.A43fs	LRRC34_ENST00000446859.1_Frame_Shift_Del_p.A43fs|LRRC34_ENST00000316515.7_Frame_Shift_Del_p.A30fs|LRRC34_ENST00000522830.1_Intron			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	30										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCGCTGGACCGCCAGGGCCGC	0.741													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55241679	55241681	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:55241679_55241681delAAC	ENST00000275493.2	+	18	2304_2306	c.2127_2129delAAC	c.(2125-2130)gat>ga	p.ET709del	EGFR_ENST00000455089.1_In_Frame_Del_p.ET664del|EGFR_ENST00000454757.2_In_Frame_Del_p.ET656del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709H(2)|p.T710A(1)|p.E709_T710>D(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTTGAAGGAAACTGAATTCAAA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	87	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													3	5	---	---	---	---					
DPF2	5977	broad.mit.edu	37	11	65113271	65113271	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr11:65113271delA	ENST00000528416.1	+	7	905	c.772delA	c.(772-774)aafs	p.K258fs	DPF2_ENST00000252268.4_Frame_Shift_Del_p.K272fs|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	258					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGAGGAGCAGAAATGTAAGCT	0.552													13	41	---	---	---	---					
AKT1S1	84335	broad.mit.edu	37	19	50376440	50376440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4P7-01A-11D-A24P-08	TCGA-86-A4P7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	871027b4-2b86-4224-b0bf-8fa82c94e881	32a5582f-4c70-4a22-95d7-215f2d5228b4	g.chr19:50376440delG	ENST00000391833.1	-	1	2102	c.113delC	c.(112-114)cafs	p.P39fs	AKT1S1_ENST00000391834.2_Frame_Shift_Del_p.P39fs|AKT1S1_ENST00000391835.1_Frame_Shift_Del_p.P59fs|AKT1S1_ENST00000391831.1_Frame_Shift_Del_p.P39fs|AKT1S1_ENST00000344175.5_Frame_Shift_Del_p.P39fs|AKT1S1_ENST00000391832.3_Frame_Shift_Del_p.P39fs	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	39	Poly-Pro.				negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		cgggcggggtggtggcggcgg	0.761													2	4	---	---	---	---