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
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:228118844A>G	ENST00000396578.3	+	14	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	261	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433000													3	165					0	0	0.115264	0	0
PHF1	5252	broad.mit.edu	37	6	33382565	33382565	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:33382565T>C	ENST00000374516.3	+	11	1279	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P	PHF1_ENST00000374512.3_Silent_p.P336P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	336					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTCGGATGCCTCCCCCTGTGG	0.527000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	132					0	0	0.115264	0	0
SLC5A10	125206	broad.mit.edu	37	17	18916793	18916793	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:18916793C>T	ENST00000317977.6	+	9	1423	c.852C>T	c.(850-852)atC>atT	p.I284I	SLC5A10_ENST00000395647.2_Silent_p.I367I|SLC5A10_ENST00000395643.2_Silent_p.I324I|SLC5A10_ENST00000395645.3_Silent_p.I351I|SLC5A10_ENST00000395642.1_Silent_p.I284I|SLC5A10_ENST00000417251.2_Intron			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	351					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTCCAACATCGCCTACCCCA	0.647000													20	57					0	0	0.575678	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397588	49397588	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49397588T>C	ENST00000548065.1	-	9	1111	c.655A>G	c.(655-657)Att>Gtt	p.I219V	PRKAG1_ENST00000316299.5_Missense_Mutation_p.I228V|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.I168V|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.I135V|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.I187V|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	219	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TGTACAAAAATCCCCAGAGCC	0.537000													103	195					0	0	0.870114	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105972	151105972	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:151105972G>C	ENST00000341697.3	-	19	3472	c.1781C>G	c.(1780-1782)cCa>cGa	p.P594R				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	594						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCGAGGCTGGGGGCAGGTC	0.721000													8	2					0	0	0.335167	0	0
ZHX2	22882	broad.mit.edu	37	8	123965269	123965269	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:123965269G>A	ENST00000314393.4	+	3	2354	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	507						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAATCCCTTGCCAAAGACCA	0.567000													31	59					0	0	0.740014	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38633283	38633283	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:38633283C>A	ENST00000222345.6	+	12	3975	c.3466C>A	c.(3466-3468)Cag>Aag	p.Q1156K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1156					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCTACCGACAGCCTTCTGG	0.577000											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	144	330					5.48206e-51	7.35947e-51	0.870114	1	0
SCN9A	6335	broad.mit.edu	37	2	167085470	167085470	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:167085470C>T	ENST00000375387.4	-	22	4280	c.3940G>A	c.(3940-3942)Gca>Aca	p.A1314T	SCN9A_ENST00000409435.1_Missense_Mutation_p.A1313T|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1314T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1302T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1313						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTATGAGTGCATTCACAACG	0.358000													45	98					0	0	0.864702	0	0
MICAL2	9645	broad.mit.edu	37	11	12248593	12248593	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:12248593G>T	ENST00000256194.4	+	15	2198	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	MICAL2_ENST00000537344.1_Missense_Mutation_p.G637V|MICAL2_ENST00000379612.3_Missense_Mutation_p.G637V|MICAL2_ENST00000342902.5_Missense_Mutation_p.G637V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G637V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	637						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAAACTATGGAGAAAATGCT	0.458000													27	78					1.5548e-18	1.88112e-18	0.693898	1	0
REV3L	5980	broad.mit.edu	37	6	111697637	111697637	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:111697637G>T	ENST00000435970.1	-	15	2503	c.1687C>A	c.(1687-1689)Cat>Aat	p.H563N	REV3L_ENST00000358835.3_Missense_Mutation_p.H641N|REV3L_ENST00000368802.3_Missense_Mutation_p.H641N|REV3L_ENST00000368805.1_Missense_Mutation_p.H641N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	641					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTCTTTATGAGAATTTTCT	0.333000								DNA polymerases (catalytic subunits)					4	152					0.150653	0.157064	0.150653	1	0
ANKRD20A2	441430	broad.mit.edu	37	9	42368569	42368569	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:42368569G>T	ENST00000377601.2	+	1	267	c.155G>T	c.(154-156)tGc>tTc	p.C52F		NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	52										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GTGGAGCGCTGCTTGGCGCGC	0.697000													23	161					2.46105e-21	3.01479e-21	0.750413	1	0
DDX21	9188	broad.mit.edu	37	10	70742529	70742529	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70742529A>T	ENST00000354185.4	+	15	2411	c.2313A>T	c.(2311-2313)aaA>aaT	p.K771N		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	771						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAAAACAAAGGCCAGAAGC	0.428000													47	105					0	0	0.870114	0	0
PRDM15	63977	broad.mit.edu	37	21	43281766	43281766	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:43281766A>G	ENST00000269844.3	-	7	907	c.797T>C	c.(796-798)gTg>gCg	p.V266A	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGATTCCACACGCCCTCCAC	0.532000													51	89					0	0	0.870114	0	0
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488000													5	380					0	0	0.217242	0	0
CNTN5	53942	broad.mit.edu	37	11	100169931	100169931	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:100169931G>A	ENST00000524871.1	+	20	2713	c.2423G>A	c.(2422-2424)gGc>gAc	p.G808D	CNTN5_ENST00000279463.3_Missense_Mutation_p.G808D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G808D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G734D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	808	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGGCTTCGGCTATATTGTG	0.373000													16	42					0	0	0.539581	0	0
C16orf78	123970	broad.mit.edu	37	16	49407969	49407969	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:49407969G>A	ENST00000299191.3	+	1	236	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	40										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGCTGGAGCGGAGGCAGGGG	0.512000													53	105					0	0	0.870114	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591609	153591609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:153591609C>T	ENST00000326446.5	+	3	1267	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	186						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAATGTTTCCTCCTACTCC	0.368000													95	173					0	0	0.870114	0	0
PTPRR	5801	broad.mit.edu	37	12	71139699	71139699	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:71139699G>T	ENST00000283228.2	-	6	1358	c.906C>A	c.(904-906)gtC>gtA	p.V302V	PTPRR_ENST00000549308.1_Silent_p.V57V|PTPRR_ENST00000440835.2_Silent_p.V57V|PTPRR_ENST00000378778.1_Silent_p.V96V|PTPRR_ENST00000342084.4_Silent_p.V190V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	302					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGGGTCCACGACAACATTCA	0.532000													46	93					5.20006e-24	6.53341e-24	0.859065	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													5	196					0	0	0.184627	0	0
PBLD	64081	broad.mit.edu	37	10	70045112	70045112	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70045112T>G	ENST00000358769.2	-	9	949	c.747A>C	c.(745-747)gaA>gaC	p.E249D	PBLD_ENST00000309049.4_Missense_Mutation_p.E249D|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Missense_Mutation_p.E216D|PBLD_ENST00000432941.1_Missense_Mutation_p.E249D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	249					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCATGCATTTCTTTCTTCC	0.413000													54	123					0	0	0.870114	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879153	12879153	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:12879153A>G	ENST00000524591.2	+	5	1454	c.965A>G	c.(964-966)gAg>gGg	p.E322G	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	322							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAACACTTGGAGTGGCTGAGA	0.418000													41	65					0	0	0.870114	0	0
CCDC102A	92922	broad.mit.edu	37	16	57559847	57559847	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:57559847C>G	ENST00000258214.2	-	3	1024	c.778G>C	c.(778-780)Gat>Cat	p.D260H		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	260										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGGGACTCATCCAGCCGTAGC	0.687000													7	24					0	0	0.411799	0	0
TCF20	6942	broad.mit.edu	37	22	42605832	42605832	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42605832G>T	ENST00000359486.3	-	1	5616	c.5480C>A	c.(5479-5481)tCc>tAc	p.S1827Y	TCF20_ENST00000335626.4_Missense_Mutation_p.S1827Y|TCF20_ENST00000404876.1_Missense_Mutation_p.S128Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGGCACGGAGGGCTTCGA	0.542000													106	200					1.56001e-33	2.03841e-33	0.870114	1	0
NAGPA	51172	broad.mit.edu	37	16	5081819	5081819	+	Silent	SNP	C	C	A	rs138461608		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:5081819C>A	ENST00000312251.3	-	3	628	c.609G>T	c.(607-609)gtG>gtT	p.V203V	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.V203V	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	203					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GAATCAGCCACACGACCCCAC	0.557000													97	174					1.39521e-32	1.79908e-32	0.870114	1	0
PBRM1	55193	broad.mit.edu	37	3	52712614	52712614	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:52712614C>A	ENST00000356770.4	-	2	141		c.e2-1		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACACGGCAATCTACACATTAG	0.393000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								42	34					3.38236e-24	4.30482e-24	0.827153	1	0
RAB8A	4218	broad.mit.edu	37	19	16240404	16240404	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240404A>T	ENST00000300935.3	+	7	794	c.521A>T	c.(520-522)gAc>gTc	p.D174V	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.G167G	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	174					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GCAAAAATGGACAAAAAATTG	0.517000													76	180					0	0	0.870114	0	0
CADPS	8618	broad.mit.edu	37	3	62498425	62498425	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:62498425C>A	ENST00000383710.4	-	17	2949		c.e17+1		CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATTGGTTCACCTGCATCCTT	0.358000													8	16					2.17888e-05	2.39921e-05	0.335167	1	0
NTNG1	22854	broad.mit.edu	37	1	107691260	107691260	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:107691260G>A	ENST00000370067.1	+	2	672	c.45G>A	c.(43-45)acG>acA	p.T15T	NTNG1_ENST00000370061.3_Silent_p.T15T|NTNG1_ENST00000370066.1_Silent_p.T15T|NTNG1_ENST00000370068.1_Silent_p.T15T|NTNG1_ENST00000370070.2_Silent_p.T15T|NTNG1_ENST00000370071.2_Silent_p.T15T|NTNG1_ENST00000370073.2_Silent_p.T15T|NTNG1_ENST00000370074.4_Silent_p.T15T|NTNG1_ENST00000370065.1_Silent_p.T15T|NTNG1_ENST00000542803.1_Silent_p.T15T|NTNG1_ENST00000370072.3_Silent_p.T15T			Q9Y2I2	NTNG1_HUMAN	netrin G1	15					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTGGGTTACGGTGTCCTCAG	0.413000													6	281					0	0	0.248553	0	0
LMBR1L	55716	broad.mit.edu	37	12	49495053	49495053	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49495053G>T	ENST00000267102.8	-	13	1404	c.1062C>A	c.(1060-1062)gtC>gtA	p.V354V	LMBR1L_ENST00000395141.4_Silent_p.V349V|LMBR1L_ENST00000547382.1_Intron	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	354					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAACCTGAATGACGGCACCAA	0.532000													24	68					9.86323e-18	1.17878e-17	0.667858	1	0
CEP192	55125	broad.mit.edu	37	18	13056677	13056677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr18:13056677C>A	ENST00000506447.1	+	19	4168	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	CEP192_ENST00000325971.8_Nonsense_Mutation_p.S767*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S888*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	958										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATGGGATTCAGGAGTGACA	0.373000													4	172					0.150653	0.157064	0.150653	1	0
COX11	1353	broad.mit.edu	37	17	53042201	53042201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:53042201C>A	ENST00000299335.3	-	2	517	c.379G>T	c.(379-381)Gga>Tga	p.G127*	COX11_ENST00000571584.1_Nonsense_Mutation_p.G127*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	127					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GCTGATCCTCCAAGTCCAGTA	0.328000													4	149					0.00909568	0.00968888	0.150653	1	0
COL5A2	1290	broad.mit.edu	37	2	189964840	189964840	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:189964840A>T	ENST00000374866.3	-	4	636	c.362T>A	c.(361-363)gTg>gAg	p.V121E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	121					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACAACAGGCACTAATCCTGG	0.308000													4	150					0	0	0.184627	0	0
ACADS	35	broad.mit.edu	37	12	121175723	121175723	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:121175723A>G	ENST00000242592.4	+	5	707	c.556A>G	c.(556-558)Atc>Gtc	p.I186V	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	186						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CAAAGCCTGGATCACCAATGC	0.637000													23	93					0	0	0.667858	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	59					0	0	0.150653	0	0
PICALM	8301	broad.mit.edu	37	11	85733457	85733457	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:85733457T>C	ENST00000526033.1	-	4	721	c.405A>G	c.(403-405)gcA>gcG	p.A135A	PICALM_ENST00000393346.3_Silent_p.A135A|PICALM_ENST00000356360.5_Silent_p.A135A|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.A135A|PICALM_ENST00000528398.1_Silent_p.A84A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	135	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTATGAAACTGCTTTCTCAT	0.284000			T	"""MLLT10, MLL"""	"""TALL, AML, """								76	149					0	0	0.870114	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597000													4	140					0	0	0.150653	0	0
MLLT1	4298	broad.mit.edu	37	19	6216490	6216490	+	Silent	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:6216490G>C	ENST00000252674.7	-	8	1396	c.1233C>G	c.(1231-1233)tcC>tcG	p.S411S	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	411					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACTCCTCGGACTGCAGGT	0.716000			T	MLL	AL								3	13					0	0	0.184627	0	0
KL	9365	broad.mit.edu	37	13	33635705	33635705	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635705T>A	ENST00000380099.3	+	4	2497	c.2489T>A	c.(2488-2490)gTg>gAg	p.V830E	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTAGAAGTGCAAGAAATG	0.463000													41	89					0	0	0.834066	0	0
DHRS7B	25979	broad.mit.edu	37	17	21087063	21087063	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:21087063G>T	ENST00000395511.3	+	4	786	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	DHRS7B_ENST00000579303.1_Missense_Mutation_p.V141L	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	156						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGACACCACAGTGGATGTGGA	0.473000													24	49					2.39556e-15	2.8285e-15	0.639603	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671202	31671202	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:31671202C>T	ENST00000375483.3	+	3	199	c.199C>T	c.(199-201)Cat>Tat	p.H67Y		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	67						cytoplasm|extracellular region	lipid binding										CAATGACTTCCATGTCCGAGG	0.498000													5	213					0	0	0.248553	0	0
GSAP	54103	broad.mit.edu	37	7	76950057	76950057	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr7:76950057A>C	ENST00000257626.7	-	26	2152	c.2074T>G	c.(2074-2076)Tta>Gta	p.L692V	GSAP_ENST00000441833.2_Missense_Mutation_p.L13V|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GGCAGAGGTAAAAACAAACTG	0.388000													30	55					0	0	0.740014	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													3	47					0	0	0.115264	0	0
G3BP1	10146	broad.mit.edu	37	5	151166239	151166239	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:151166239T>C	ENST00000394123.3	+	2	203	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	G3BP1_ENST00000356245.3_Missense_Mutation_p.Y20H|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	20	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAGACAGTATTACACACTGCT	0.458000													59	130					0	0	0.870114	0	0
DIP2B	57609	broad.mit.edu	37	12	51077010	51077010	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:51077010A>G	ENST00000301180.5	+	10	1330	c.1296A>G	c.(1294-1296)atA>atG	p.I432M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	432						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGTGCCTATAGAGGTACCTC	0.433000													98	176					0	0	0.870114	0	0
UNC79	57578	broad.mit.edu	37	14	94044309	94044309	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr14:94044309A>C	ENST00000553484.1	+	18	2487	c.2333A>C	c.(2332-2334)aAt>aCt	p.N778T	UNC79_ENST00000256339.4_Missense_Mutation_p.N601T|UNC79_ENST00000555664.1_Missense_Mutation_p.N778T|UNC79_ENST00000393151.2_Missense_Mutation_p.N778T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	778						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTTCAAGAATTTTGGACAC	0.433000													113	247					0	0	0.870114	0	0
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:6690673G>A	ENST00000321535.4	+	4	1385	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	419										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418000													45	97					0	0	0.864702	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470606	25470606	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:25470606A>T	ENST00000264709.3	-	8	1205	c.868T>A	c.(868-870)Ttt>Att	p.F290I	DNMT3A_ENST00000380746.4_Missense_Mutation_p.F101I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F290I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F67I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	290	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATGCCAAAGCCCCGGCCG	0.652000			"""Mis, F, N, S"""		AML								42	50					0	0	0.827153	0	0
AAMDC	28971	broad.mit.edu	37	11	77553573	77553573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:77553573T>C	ENST00000527134.1	+	3	179	c.31T>C	c.(31-33)Tgg>Cgg	p.W11R	AAMDC_ENST00000525034.1_Missense_Mutation_p.W30R|AAMDC_ENST00000526415.1_Missense_Mutation_p.W11R|AAMDC_ENST00000525409.1_Missense_Mutation_p.W11R|AAMDC_ENST00000393427.2_Missense_Mutation_p.W11R|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000533193.1_Missense_Mutation_p.W11R|AAMDC_ENST00000532481.1_Missense_Mutation_p.W11R|AAMDC_ENST00000304716.8_Missense_Mutation_p.W11R					adipogenesis associated, Mth938 domain containing																		TTCCTTATCATGGGGGCAAAT	0.388000													51	77					0	0	0.870114	0	0
PIP4K2A	5305	broad.mit.edu	37	10	23003251	23003251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:23003251G>A	ENST00000376573.4	-	1	233	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	2							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCCGGGGGTCGCCATGGCCGC	0.687000													3	39					0	0	0.184627	0	0
PCNT	5116	broad.mit.edu	37	21	47776974	47776974	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:47776974A>T	ENST00000359568.5	+	13	2129	c.2022A>T	c.(2020-2022)gaA>gaT	p.E674D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	674	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGGTCTGGAAACTGAGCACA	0.498000													48	95					0	0	0.870114	0	0
TSC2	7249	broad.mit.edu	37	16	2111908	2111908	+	Missense_Mutation	SNP	G	G	A	rs137854007		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:2111908G>A	ENST00000219476.3	+	12	1786	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N|TSC2_ENST00000350773.4_Missense_Mutation_p.D386N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	386	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCGTCCATGACCTGTTGAC	0.587000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				36	74					0	0	0.819951	0	0
UBQLN1	29979	broad.mit.edu	37	9	86292725	86292725	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86292725G>T	ENST00000376395.4	-	6	1545	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	UBQLN1_ENST00000257468.7_Missense_Mutation_p.T341N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	341					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCCACCCACAGTGCTGGCAGT	0.522000													37	68					7.04047e-22	8.73375e-22	0.812448	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50453230	50453230	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:50453230C>T	ENST00000447370.2	-	11	2184	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	SIGLEC11_ENST00000426971.2_Silent_p.K602K|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	698					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GACCTCTTCACTTTGGAACCA	0.567000													10	23					0	0	0.361761	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481574	140481574	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:140481574C>T	ENST00000231130.2	+	1	1341	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		447	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.562000													4	182					0	0	0.150653	0	0
RAB8A	4218	broad.mit.edu	37	19	16240402	16240402	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240402G>C	ENST00000300935.3	+	7	792	c.519G>C	c.(517-519)atG>atC	p.M173I	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.G167R	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	173					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						AAGCAAAAATGGACAAAAAAT	0.517000													76	184					0	0	0.870114	0	0
VKORC1	79001	broad.mit.edu	37	16	31104693	31104693	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:31104693T>G	ENST00000319788.7	-	2	433	c.223A>C	c.(223-225)Atc>Ctc	p.I75L	VKORC1_ENST00000394975.2_Missense_Mutation_p.I75L|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.I75L|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.H95P|VKORC1_ENST00000394971.3_Missense_Mutation_p.H106P|VKORC1_ENST00000498155.1_Missense_Mutation_p.H107P			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	75					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TGATTGAGGATGCTGTCCTGT	0.612000													32	76					0	0	0.819951	0	0
CEP85	64793	broad.mit.edu	37	1	26584685	26584685	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:26584685G>A	ENST00000252992.4	+	6	1220	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CEP85_ENST00000451429.2_Silent_p.L312L	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	363						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAGCGAACTGCAAGTCCACA	0.557000													42	107					0	0	0.840704	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936688	21936688	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936688C>T	ENST00000542643.2	-	15	1226	c.924G>A	c.(922-924)atG>atA	p.M308I	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M308I|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M339I|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M372I	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	308	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGACGCGATCATGTCGGGCA	0.632000													47	73					0	0	0.870114	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159013	1159013	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:1159013C>T	ENST00000356191.2	+	15	1182	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTGCCTGCGTCTACAACGGGG	0.652000													26	54					0	0	0.693898	0	0
SREBF2	6721	broad.mit.edu	37	22	42294664	42294664	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42294664A>G	ENST00000361204.4	+	15	2783	c.2617A>G	c.(2617-2619)Atc>Gtc	p.I873V	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	873					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCCAGACATCATCTGTCGGTG	0.562000													23	42					0	0	0.667858	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900351	86900351	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86900351T>G	ENST00000376238.4	-	14	1605	c.1556A>C	c.(1555-1557)gAa>gCa	p.E519A	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E450A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	519					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCCACAAATTCATTGAAGAA	0.423000													57	103					0	0	0.870114	0	0
MTSS1	9788	broad.mit.edu	37	8	125603469	125603469	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:125603469G>T	ENST00000518547.1	-	4	689	c.216C>A	c.(214-216)acC>acA	p.T72T	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.T72T|MTSS1_ENST00000325064.5_Silent_p.T72T	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	72	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATCTCCCTGGTCCCACCTG	0.498000													25	74					9.39395e-14	1.09596e-13	0.706142	1	0
NPHP3	27031	broad.mit.edu	37	3	132432049	132432049	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:132432049T>A	ENST00000326682.8	-	6	1115	c.1039A>T	c.(1039-1041)Aat>Tat	p.N347Y	NPHP3_ENST00000337331.5_Missense_Mutation_p.N347Y|NPHP3_ENST00000476742.1_5'UTR			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	347					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTATTGATTTTCAACATCT	0.284000													53	81					0	0	0.870114	0	0
CD44	960	broad.mit.edu	37	11	35198275	35198275	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:35198275T>A	ENST00000263398.6	+	2	655	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	CD44_ENST00000434472.2_Missense_Mutation_p.F74Y|CD44_ENST00000433892.2_Missense_Mutation_p.F74Y|CD44_ENST00000433354.2_Missense_Mutation_p.F74Y|CD44_ENST00000360158.4_Missense_Mutation_p.F74Y|CD44_ENST00000526669.2_Missense_Mutation_p.F74Y|CD44_ENST00000437706.2_Missense_Mutation_p.F74Y|CD44_ENST00000352818.4_Missense_Mutation_p.F74Y|CD44_ENST00000526025.1_Missense_Mutation_p.F74Y|CD44_ENST00000278386.6_Missense_Mutation_p.F74Y|CD44_ENST00000449691.2_Missense_Mutation_p.F74Y|CD44_ENST00000428726.2_Missense_Mutation_p.F74Y|CD44_ENST00000415148.2_Missense_Mutation_p.F74Y	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	74	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGCATCGGATTTGAGACCTGC	0.592000													24	76					0	0	0.654019	0	0
IRX1	79192	broad.mit.edu	37	5	3601149	3601149	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:3601149G>A	ENST00000302006.3	+	4	1490	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCCCGTCCGCCTGATTAAG	0.582000													35	77					0	0	0.840704	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936673	21936673	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936673G>A	ENST00000542643.2	-	15	1241	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RAP1GAP_ENST00000374765.4_Silent_p.F313F|RAP1GAP_ENST00000374761.2_Silent_p.F344F|RAP1GAP_ENST00000374763.2_Silent_p.F313F|RAP1GAP_ENST00000290101.4_Silent_p.F377F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	313	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGGCATGCAGGAAGTTGGACG	0.632000													41	71					0	0	0.840704	0	0
KL	9365	broad.mit.edu	37	13	33635704	33635704	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635704G>A	ENST00000380099.3	+	4	2496	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTACCTAGAAGTGCAAGAAAT	0.458000													40	90					0	0	0.827153	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021386	245021386	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:245021386G>C	ENST00000444376.2	-	7	1598	c.1364C>G	c.(1363-1365)aCt>aGt	p.T455S	HNRNPU_ENST00000283179.9_Missense_Mutation_p.T474S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	474	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGGATGAAAGTATACTCTTC	0.418000													43	91					0	0	0.840704	0	0
POU5F1	5460	broad.mit.edu	37	6	31138063	31138063	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:31138063G>C	ENST00000259915.8	-	1	407	c.335C>G	c.(334-336)cCg>cGg	p.P112R	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	112					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						GCAGGGCTCCGGGGAGGCCCC	0.657000			T	EWSR1	sarcoma								19	53					0	0	0.575678	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378747	101378747	+	Silent	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:101378747A>T	ENST00000312938.4	-	6	2506	c.1926T>A	c.(1924-1926)tcT>tcA	p.S642S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCCCTTCTCAGATGATGTTC	0.423000													54	110					0	0	0.870114	0	0
DNER	92737	broad.mit.edu	37	2	230253114	230253114	+	Splice_Site	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:230253114T>G	ENST00000341772.4	-	11	1858		c.e11-2			NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing						central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTCTTCACCTAGGGAGATAA	0.483000													4	229					0	0	0.150653	0	0
CBR3-AS1	100506428	broad.mit.edu	37	21	37505046	37505046	+	RNA	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:37505046T>A	ENST00000413862.1	-	0	580				CBR3-AS1_ENST00000453159.1_RNA	NR_038892.1																						ATCCTGGGCCTGAAGATCAAT	0.542000													2	6					0	0	0.115264	0	0
KAT6A	7994	broad.mit.edu	37	8	41790405	41790405	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:41790405G>T	ENST00000396930.3	-	18	5876	c.5333C>A	c.(5332-5334)aCt>aAt	p.T1778N	KAT6A_ENST00000406337.1_Missense_Mutation_p.T1778N|KAT6A_ENST00000265713.2_Missense_Mutation_p.T1778N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1778					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGCATAGGAAGTCACAGCAGG	0.532000													84	165					6.14238e-36	8.13451e-36	0.870114	1	0
DMRTB1	63948	broad.mit.edu	37	1	53925249	53925249	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:53925249C>T	ENST00000371445.3	+	1	178	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	41					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGAAGTGCTACCTGATCTCCG	0.657000													7	18					0	0	0.248553	0	0
NID1	4811	broad.mit.edu	37	1	236195855	236195856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:236195855_236195856insT	ENST00000264187.6	-	6	1464_1465	c.1382_1383insA	c.(1381-1383)tgtfs	p.C461fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.C461fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	461	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCATTACTACGTAAGAGTGGAG	0.545													25	86	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107052648	107052649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:107052648_107052649insA	ENST00000409886.3	-	12	1775_1776	c.1688_1689insT	c.(1687-1689)cagfs	p.Q563fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.Q563fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	563					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTGGGCTCTTAGAGTGTTTAT	0.342													58	149	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10183805	10183809	+	Frame_Shift_Del	DEL	GACGG	GACGG	-	rs5030808		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:10183805_10183809delGACGG	ENST00000256474.2	+	1	1114_1118	c.274_278delGACGG	c.(274-279)cfs	p.DG92fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.DG92fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	92			Missing (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G93fs*66(2)|p.G93R(2)|p.?_?ins?(1)|p.D92_G93>G(1)|p.D92fs*67(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.D92fs*68(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)|p.G93S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTCAACTTCGACGGCGAGCCGCAG	0.717		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				5	11	---	---	---	---					
RP11-371F15.3	0	broad.mit.edu	37	4	139786778	139786781	+	RNA	DEL	GGAA	GGAA	-	rs112477691		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr4:139786778_139786781delGGAA	ENST00000507038.1	-	0	158				RP11-371F15.3_ENST00000511951.1_RNA																							aaggaaagagggaaggaaggaagg	0.436													3	6	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													5	9	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCA	rs112821450	by1000genomes	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:35906583_35906584insCCA	ENST00000354323.2	+	1	395_396	c.299_300insCCA	c.(298-300)cca>cCCAca	p.100_101insT		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													7	41	---	---	---	---					
PGM5P2	595135	broad.mit.edu	37	9	69128459	69128462	+	RNA	DEL	GAAA	GAAA	-	rs60552196		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:69128459_69128462delGAAA	ENST00000591037.1	-	0	430					NR_002836.2																						agaaaggaaggaaagaaagaaaga	0.377													5	5	---	---	---	---					
CHPT1	56994	broad.mit.edu	37	12	102117531	102117531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:102117531delT	ENST00000549872.1	+	7	1161	c.971delT	c.(970-972)ctfs	p.L324fs	CHPT1_ENST00000229266.3_Frame_Shift_Del_p.L324fs			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	324					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAACTATATCTTCAAGACACT	0.299													35	41	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	3	---	---	---	---					
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:43590674_43590675insA	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAAAAAAACAAAAAAAAAAC	0.332													2	4	---	---	---	---					
LRG1	116844	broad.mit.edu	37	19	4538076	4538079	+	Frame_Shift_Del	DEL	AGGT	AGGT	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:4538076_4538079delAGGT	ENST00000306390.6	-	2	1377_1380	c.917_920delACCT	c.(916-921)agfs	p.NL306fs	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	306	LRRCT.	Not glycosylated.				extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCGCTCAGGTTCTGGTCACA	0.608													47	104	---	---	---	---					
