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
CCL21	6366	broad.mit.edu	37	9	34709503	34709503	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:34709503C>T	ENST00000259607.2	-	3	422	c.365G>A	c.(364-366)tGc>tAc	p.C122Y	CCL21_ENST00000378792.1_Missense_Mutation_p.C122Y	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	122	C-terminal basic extension.				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCACCTCTTGCAGCCTTTGGA	0.597000													3	55					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374260	39374260	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:39374260G>A	ENST00000414803.1	+	3	336	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CCR8_ENST00000326306.4_Silent_p.T146T|CCR8_ENST00000545843.1_Silent_p.T63T			P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	0					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGGTGAGGACGATCAGGATGG	0.507000													4	150					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160411	132160411	+	Silent	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:132160411A>G	ENST00000378679.3	-	6	1941	c.1137T>C	c.(1135-1137)ccT>ccC	p.P379P	SHROOM1_ENST00000319854.3_Silent_p.P379P|SHROOM1_ENST00000378676.1_Intron	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	379					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGCCAGGCAGGCACAATGC	0.592000													21	37					0	0	1	0	0
BDKRB2	0	broad.mit.edu	37	14	96707048	96707048	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:96707048C>T	ENST00000542454.2	+	3	3390	c.302C>T	c.(301-303)aCg>aTg	p.T101M	BDKRB2_ENST00000539359.1_Missense_Mutation_p.T101M|BDKRB2_ENST00000306005.3_Missense_Mutation_p.T128M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.T128M			P30411	BKRB2_HUMAN	bradykinin receptor B2	128					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.T128M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TTTGGGGAGACGCTCTGCCGC	0.587000													9	107					0	0	1	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712917	16712917	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:16712917A>G	ENST00000246071.6	+	3	389	c.173A>G	c.(172-174)gAa>gGa	p.E58G	SNRPB2_ENST00000377943.5_Missense_Mutation_p.E58G|SNRPB2_ENST00000478522.1_3'UTR	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	58	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATTTAAGGAACTGGGCTCA	0.408000													28	66					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60345580	60345580	+	RNA	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:60345580C>T	ENST00000581291.1	-	0	771																				breast(2)|kidney(1)|lung(2)	5						TGGACGGTCCCGCCATTTGGG	0.567000													63	125					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823037	70823037	+	Silent	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:70823037G>T	ENST00000353151.3	-	5	641	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	210					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCACAGGGTAGATCTGGTGGG	0.493000													11	19					1.08611e-07	1.19609e-07	1	1	0
BSN	8927	broad.mit.edu	37	3	49700781	49700781	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:49700781C>T	ENST00000296452.4	+	7	11304	c.11190C>T	c.(11188-11190)tcC>tcT	p.S3730S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3730					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCCCACTCCGGGCCCGCTG	0.622000													6	54					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124953120	124953120	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:124953120G>T	ENST00000360647.4	-	8	1206	c.721C>A	c.(721-723)Cat>Aat	p.H241N	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H241N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H241N|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H241N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	241					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTTTCCATATGATATTTTTGT	0.313000													25	112					1.66031e-10	1.90061e-10	1	1	0
HELLS	3070	broad.mit.edu	37	10	96331150	96331150	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:96331150T>G	ENST00000348459.5	+	7	546	c.441T>G	c.(439-441)atT>atG	p.I147M	HELLS_ENST00000371332.4_Missense_Mutation_p.I147M|HELLS_ENST00000394045.1_Missense_Mutation_p.I147M|HELLS_ENST00000394036.1_Missense_Mutation_p.F126V|HELLS_ENST00000394044.1_Missense_Mutation_p.I147M|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	147					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ACTAGGAAATTTTGTCTGTGG	0.269000													5	22					0	0	1	0	0
ACTL10	170487	broad.mit.edu	37	20	32255490	32255490	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:32255490G>C	ENST00000330271.4	+	1	1187	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN	actin-like 10	63																	GCTGGTGGCGGCGAACCCTGA	0.662000													6	15					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114206739	114206739	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:114206739T>C	ENST00000259335.4	-	5	722	c.723A>G	c.(721-723)atA>atG	p.I241M	KIAA0368_ENST00000338205.5_Missense_Mutation_p.I63M	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGCGGCTTTTTATACGTTTAT	0.388000													9	17					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271265	38271265	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:38271265G>A	ENST00000341462.5	-	18	3291	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W	FGFR1_ENST00000397103.1_Missense_Mutation_p.R695W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R782W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R695W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R782W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R782W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R693W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R815W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R774W|FGFR1_ENST00000447712.2_Missense_Mutation_p.R784W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R782W			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	784					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTAGAGCTCCGGGTGTCGGGA	0.662000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	27					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939804	27939804	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:27939804G>T	ENST00000374005.3	-	12	1595	c.1307C>A	c.(1306-1308)aCc>aAc	p.T436N	FGR_ENST00000399173.1_Missense_Mutation_p.T436N|FGR_ENST00000374004.1_Missense_Mutation_p.T436N|FGR_ENST00000545953.1_Missense_Mutation_p.T370N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	436	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGACTTGATGGTGAATCTGCC	0.587000													35	36					1.07637e-12	1.28279e-12	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	81					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774426	14774426	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:14774426T>C	ENST00000295092.2	+	2	611	c.323T>C	c.(322-324)cTa>cCa	p.L108P	FAM84A_ENST00000331243.4_Missense_Mutation_p.L108P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	108										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGCCGACCTAAGCGTCTAC	0.687000													6	5					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200616	47200616	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:47200616A>G	ENST00000296861.2	-	6	2246	c.1853T>C	c.(1852-1854)aTt>aCt	p.I618T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	618					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGCCTGGGGAATCTCTTCAAT	0.517000													16	228					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150245	193150245	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:193150245T>C	ENST00000367434.4	-	2	1203	c.448A>G	c.(448-450)Agt>Ggt	p.S150G	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	150					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAAAAAGGACTTTTCTCTTGG	0.363000													24	64					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857770	90857770	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:90857770C>T	ENST00000394980.1	+	7	3258	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.S722F|MMRN1_ENST00000264790.2_Missense_Mutation_p.S980F			Q13201	MMRN1_HUMAN	multimerin 1	980					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCTGCCCTATCTAATTTAACT	0.358000													12	47					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26993670	26993670	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:26993670G>A	ENST00000376215.5	+	3	280	c.227_splice	c.e3+1	p.R76_splice	PDSS1_ENST00000376203.5_Splice_Site_p.R76_splice	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	76				R -> Q (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	p.R76L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGTATATCACGGTAAGTTTAC	0.294000													27	44					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71190765	71190765	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:71190765G>A	ENST00000234396.4	+	11	1197	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R358K	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	375					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TACGTGGACAGACAGCTTCAC	0.547000													7	31					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909827	23909827	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:23909827G>T	ENST00000382298.3	-	10	8776	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	SACS_ENST00000402364.1_Missense_Mutation_p.L1980M|SACS_ENST00000382292.3_Missense_Mutation_p.L2730M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2730					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGAGCGCAGTTTGTCCAAA	0.378000													23	56					7.41945e-09	8.27554e-09	1	1	0
PRPF18	8559	broad.mit.edu	37	10	13658529	13658529	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:13658529C>T	ENST00000378572.3	+	9	1084	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	308					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTTAAATGACGAAACTCAGC	0.438000													14	34					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530165	5530165	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:5530165C>T	ENST00000311659.4	-	2	771	c.624G>A	c.(622-624)ggG>ggA	p.G208G	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	208										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGAATATGCCCAATCTCAG	0.532000													4	103					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38643562	38643562	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:38643562G>A	ENST00000222345.6	+	13	4125	c.3616G>A	c.(3616-3618)Ggc>Agc	p.G1206S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1206					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)			CTCCTCTTCCGGCGGCCTGAC	0.667000													29	65					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106974307	106974307	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:106974307C>T	ENST00000369701.3	+	18	2710	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M	SORCS3_ENST00000369699.4_Missense_Mutation_p.T114M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	828	PKD.					integral to membrane	neuropeptide receptor activity	p.T828M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGTGGTGACGACCGATGGG	0.587000													3	26					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609544	75609544	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:75609544G>A	ENST00000294638.5	+	7	1289	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	LHX8_ENST00000356261.3_Missense_Mutation_p.V199M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGGGATTAGTGTGGAAGGTGC	0.413000													20	12					0	0	1	0	0
PCDHB17	0	broad.mit.edu	37	5	140536940	140536940	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:140536940C>T	ENST00000539533.1	+	1	1364	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I																								TTCACCCAAACCTCCTACACC	0.592000													19	84					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37369039	37369039	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:37369039A>T	ENST00000529555.1	+	2	2095	c.1307A>T	c.(1306-1308)tAt>tTt	p.Y436F	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000589046.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	436					negative 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	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTTATAGTGGCTCA	0.428000													23	85					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91552274	91552274	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:91552274C>A	ENST00000052754.5	-	4	838	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F	DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.V113F|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.V113F|DCN_ENST00000420120.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	113					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTATTGTTGACAAGAATCAAT	0.363000													20	51					7.45023e-12	8.75905e-12	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55238515	55238515	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55238515G>A	ENST00000381298.2	-	16	2314	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	IL6ST_ENST00000336909.5_Missense_Mutation_p.P668S|IL6ST_ENST00000381293.2_Silent_p.H180H|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Silent_p.H43H|IL6ST_ENST00000502326.3_Missense_Mutation_p.P668S|IL6ST_ENST00000381294.3_Missense_Mutation_p.P607S|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	668					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGAGTGTGAGGTGACCACTGG	0.363000			O		hepatocellular ca								14	67					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506901	164506901	+	Splice_Site	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:164506901C>A	ENST00000503008.1	-	6	1399	c.423_splice	c.e6+1	p.K141_splice	MARCH1_ENST00000274056.7_Splice_Site_p.K141_splice|MARCH1_ENST00000514618.1_Splice_Site_p.K397_splice|MARCH1_ENST00000339875.5_Splice_Site_p.K124_splice	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	141					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATACTGTACCTTCCGGAGGG	0.448000													26	101					1.75199e-13	2.1468e-13	1	1	0
GK2	2712	broad.mit.edu	37	4	80329310	80329310	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:80329310C>T	ENST00000358842.3	-	1	62	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	15					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTGGACCACCGCTCCCACCA	0.552000													4	57					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100795591	100795591	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:100795591C>A	ENST00000323346.5	+	6	1026	c.713C>A	c.(712-714)gCt>gAt	p.A238D	SLC17A8_ENST00000392989.3_Missense_Mutation_p.A238D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	238					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGCCCCTGGCTGGGGTGTTG	0.448000													28	86					2.70662e-09	3.05813e-09	1	1	0
SUPT20H	55578	broad.mit.edu	37	13	37607706	37607706	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:37607706T>C	ENST00000360252.4	-	10	837	c.590A>G	c.(589-591)gAg>gGg	p.E197G	SUPT20H_ENST00000356185.3_Missense_Mutation_p.E197G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E196G|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E196G|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E184G|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E197G	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GAGCTGGCTCTCAAGCAAAAG	0.373000													12	40					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727794	137727794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:137727794G>T	ENST00000314358.5	+	8	2673	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.E481*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	825					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGTGACTCTGAGGAGCAGCT	0.557000													7	83					0.00307968	0.00315214	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349743	150349743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:150349743C>A	ENST00000218316.3	+	2	1757	c.1688C>A	c.(1687-1689)tCg>tAg	p.S563*		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	563	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGAGTCGGCCTCTAGC	0.622000													50	8					4.64027e-19	5.76719e-19	1	1	0
ACTL8	81569	broad.mit.edu	37	1	18152662	18152662	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:18152662C>T	ENST00000375406.1	+	3	965	c.749C>T	c.(748-750)cCc>cTc	p.P250L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	250						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCTGACCCCCATGCAGCGG	0.632000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113238156	113238156	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:113238156C>T	ENST00000369644.1	+	12	2600	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	MOV10_ENST00000357443.2_Missense_Mutation_p.A580V|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.A580V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.A580V			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	580					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGCCTCCTGGCCCCCAGCAGG	0.597000													8	17					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059578	152059578	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:152059578G>T	ENST00000368806.1	-	3	644	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	194							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATATCTTGAGCCACTTCC	0.438000													10	165					0.000673444	0.000697496	1	1	0
FRG1B	0	broad.mit.edu	37	20	29623203	29623203	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:29623203A>G	ENST00000278882.3	+	3	395	c.15A>G	c.(13-15)atA>atG	p.I5M	FRG1B_ENST00000439954.2_Missense_Mutation_p.I7V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I5M																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGAACCTATATACATGCACT	0.393000													6	484					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836068	40836068	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:40836068T>A	ENST00000264638.4	+	3	401	c.184T>A	c.(184-186)Tca>Aca	p.S62T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	62	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AAGCGGGTGGTCACCACGGAT	0.592000													51	48					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312954	111312954	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:111312954C>T	ENST00000317012.4	-	2	1103	c.95G>A	c.(94-96)gGa>gAa	p.G32E	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	32							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						AACCAGTTCTCCTGTCTCACT	0.522000													20	23					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122508	31122508	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31122508C>T	ENST00000394951.1	+	10	1436	c.813C>T	c.(811-813)taC>taT	p.Y271Y	BCKDK_ENST00000219794.6_Silent_p.Y271Y|BCKDK_ENST00000287507.3_Silent_p.Y271Y|BCKDK_ENST00000394950.3_Silent_p.Y271Y			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	271	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CACTGGACTACATCCTGCCGG	0.602000													8	27					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84202653	84202653	+	Silent	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:84202653G>T	ENST00000376499.3	-	17	2984	c.1920C>A	c.(1918-1920)gtC>gtA	p.V640V		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	640					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCCAGGACCTGACTGTGTTGT	0.597000													3	32					1	1	1	1	0
AHSP	51327	broad.mit.edu	37	16	31539920	31539920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31539920G>T	ENST00000302312.4	+	3	320	c.217G>T	c.(217-219)Gag>Tag	p.E73*	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	73					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GCTTCGGCAAGAGCTGAACAC	0.572000													7	29					8.12818e-05	8.62381e-05	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31765178	31765178	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:31765178G>A	ENST00000543095.2	-	34	5740	c.5556C>T	c.(5554-5556)atC>atT	p.I1852I	HEATR5A_ENST00000389961.3_Silent_p.I1846I|HEATR5A_ENST00000439727.1_Silent_p.I1559I|HEATR5A_ENST00000439348.1_Silent_p.I1771I|RP11-596D21.1_ENST00000551799.1_RNA	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1846							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAGGCATGGGATGGTAGTTA	0.368000													13	47					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108931976	108931976	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:108931976G>C	ENST00000228284.3	-	8	1300	c.1066C>G	c.(1066-1068)Cga>Gga	p.R356G	SART3_ENST00000431469.2_Missense_Mutation_p.R356G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	356					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.R356*(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAGTTGTCGATCCTATGAT	0.408000									Porokeratosis				12	35					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789870	5789870	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:5789870C>T	ENST00000328090.5	+	15	5111	c.4486C>T	c.(4486-4488)Cct>Tct	p.P1496S		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1496																	ACCAACCCTTCCTGGTAAAGT	0.453000													17	50					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7826908	7826908	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:7826908G>A	ENST00000338316.4	+	25	3289	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E	ADCY2_ENST00000537121.1_Missense_Mutation_p.G887E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1067					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACGTGAAAGGAAAGGGGGAC	0.512000													11	42					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745333	32745333	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:32745333G>A	ENST00000333070.4	+	10	1216	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	LCK_ENST00000336890.5_Silent_p.L342L|LCK_ENST00000373564.3_Silent_p.L349L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	342	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ACAAACTCCTGGACATGGCAG	0.557000			T	TRB@	T-ALL								74	157					0	0	1	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244069	11244069	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:11244069T>G	ENST00000531678.1	-	1	843	c.760A>C	c.(760-762)Agt>Cgt	p.S254R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTTCCAGACTTCCAAAACTC	0.393000													5	42					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96362364	96362364	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:96362364A>T	ENST00000231368.5	+	16	3459	c.2767A>T	c.(2767-2769)Aag>Tag	p.K923*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.K909*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	923					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCGAACACAGAAGCTGTCTTT	0.383000													21	39					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85573211	85573211	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:85573211C>A	ENST00000295802.4	-	6	1116	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S274I|RETSAT_ENST00000263854.6_Missense_Mutation_p.S335I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	335					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTTCTTCACACTGACACCTGC	0.572000													9	81					1.58986e-06	1.72898e-06	1	1	0
RAVER1	125950	broad.mit.edu	37	19	10434100	10434100	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:10434100C>G	ENST00000293677.6	-	4	1031	c.950G>C	c.(949-951)gGg>gCg	p.G317A		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	300	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCGGGGGGCCCAGGGGCGCA	0.721000													9	12					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102303100	102303100	+	RNA	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr15:102303100C>T	ENST00000561463.1	+	0	11146																											ACCGGTGCGACGAGATGCTGC	0.587000													3	14					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154249	2154249	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:2154249C>T	ENST00000416167.2	-	4	1677	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	IGF2_ENST00000337883.6_Missense_Mutation_p.A171T|IGF2_ENST00000418738.2_Missense_Mutation_p.A171T|IGF2_ENST00000381395.1_Missense_Mutation_p.A171T|IGF2_ENST00000434045.2_Missense_Mutation_p.A227T|IGF2_ENST00000381392.1_Missense_Mutation_p.A174T|IGF2_ENST00000381406.4_Missense_Mutation_p.A174T|IGF2_ENST00000300632.5_Missense_Mutation_p.A171T|IGF2_ENST00000381389.1_Missense_Mutation_p.A171T			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	171					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCTGGGGGGGCGCCCCCGTGG	0.667000													33	60					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12438521	12438521	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:12438521A>G	ENST00000358136.3	+	56	11087	c.10957A>G	c.(10957-10959)Aca>Gca	p.T3653A	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3628A|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3652					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGACAGGAACAGGAATGCT	0.537000													5	46					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140159705	140159705	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:140159705C>G	ENST00000255977.2	-	3	570	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	MKRN1_ENST00000474576.1_Missense_Mutation_p.E52Q|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E116Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	116							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GCAGTTGCTTCTTCCTGTTTC	0.433000													20	37					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904390	144904390	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:144904390C>T	ENST00000370490.1	+	1	4702	c.447C>T	c.(445-447)atC>atT	p.I149I	SLITRK2_ENST00000413937.2_Silent_p.I149I|SLITRK2_ENST00000447897.2_Silent_p.I149I|SLITRK2_ENST00000434188.2_Silent_p.I149I|SLITRK2_ENST00000428560.2_Silent_p.I149I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	149						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTGCCATCGAGGCTGGGG	0.498000													17	11					0	0	1	0	0
POLR2J4	0	broad.mit.edu	37	7	44012856	44012856	+	RNA	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:44012856G>T	ENST00000427076.1	-	0	960					NR_003655.2																						CGTGGAAGGTGGGCGGCAGGT	0.627000													23	12					3.1745e-13	3.83585e-13	1	1	0
CRB2	286204	broad.mit.edu	37	9	126134526	126134526	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:126134526A>C	ENST00000373631.3	+	9	2508	c.2507A>C	c.(2506-2508)aAt>aCt	p.N836T	CRB2_ENST00000373629.2_Missense_Mutation_p.N504T|CRB2_ENST00000359999.3_Missense_Mutation_p.N836T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	836	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCCTGCCAATTTCACGGGG	0.622000													8	46					0	0	1	0	0
POC1B-GALNT4	0	broad.mit.edu	37	12	89918908	89918908	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:89918908C>T	ENST00000548729.1	-	2	391	c.89G>A	c.(88-90)gGc>gAc	p.G30D	POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.A117T|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.G30D|POC1B_ENST00000549504.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G30D|POC1B_ENST00000549035.1_5'UTR	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					AAGTTGCTTGCCGTTGGGGCT	0.502000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	52					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112857	168112857	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:168112857G>A	ENST00000519560.1	-	31	3809	c.3390C>T	c.(3388-3390)aaC>aaT	p.N1130N	SLIT3_ENST00000404867.3_Silent_p.N1130N|SLIT3_ENST00000332966.8_Silent_p.N1137N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1130	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGGCCCCGTTCTGGCACT	0.637000													10	21					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181585	18181585	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:18181585A>G	ENST00000321105.5	-	18	2445	c.2231T>C	c.(2230-2232)cTg>cCg	p.L744P	TOP3A_ENST00000542570.1_Missense_Mutation_p.L649P|TOP3A_ENST00000540524.1_Missense_Mutation_p.L274P	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	744					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GATCTCCCTCAGGGTGTCGTC	0.592000													18	22					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	36					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs36179995		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677000													4	101					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337700	104337700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:104337700C>T	ENST00000358755.4	+	4	1683	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Q151*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Q424*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Q456*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	456					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCATTGTCGTCAGTACCATAT	0.378000													24	88					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28719853	28719853	+	Splice_Site	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr18:28719853C>A	ENST00000257197.3	-	11	1782	c.1520_splice	c.e11-1	p.R507_splice	DSC1_ENST00000257198.5_Splice_Site_p.R507_splice|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	507	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTTCTGATACCTAATTTTTA	0.294000													15	21					1.5739e-10	1.82572e-10	1	1	0
CLDN23	137075	broad.mit.edu	37	8	8560290	8560290	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:8560290G>A	ENST00000519106.1	+	1	843	c.382G>A	c.(382-384)Ggc>Agc	p.G128S		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	128					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TGGCCTCCTCGGCCTCATCCC	0.697000													16	26					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72958290	72958290	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:72958290G>A	ENST00000272427.6	-	4	542	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.L138F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	138					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCACCTGGAAGACACAGCATT	0.368000													5	13					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56532056	56532056	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:56532056G>A	ENST00000394048.5	+	21	2601	c.2337_splice	c.e21+1	p.E779_splice	ESYT1_ENST00000267113.4_Splice_Site_p.E789_splice|ESYT1_ENST00000541590.1_Splice_Site_p.E789_splice|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	779						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGTTAGAGGAGGTAGGGCAGG	0.592000													18	41					0	0	1	0	0
PACSIN1	0	broad.mit.edu	37	6	34499497	34499497	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:34499497G>C	ENST00000538621.1	+	9	1403	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	PACSIN1_ENST00000244458.2_Missense_Mutation_p.K386N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K344N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	386	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACGACTCCAAGGGAGTGCGCG	0.657000													31	69					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	432967	432967	+	Silent	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:432967T>C	ENST00000316418.5	+	11	1127	c.1083T>C	c.(1081-1083)acT>acC	p.T361T	AHRR_ENST00000506456.1_Silent_p.T199T|AHRR_ENST00000512529.1_Silent_p.T189T|AHRR_ENST00000505113.1_Silent_p.T343T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGAACAGACTGACGCTGGCC	0.657000													27	29					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350582	100350582	+	RNA	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:100350582C>A	ENST00000542585.1	+	0	3002				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACT	0.507000													5	218					8.12818e-05	8.62381e-05	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55251876	55251876	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55251876G>A	ENST00000381298.2	-	10	1556	c.1244C>T	c.(1243-1245)aCt>aTt	p.T415I	IL6ST_ENST00000336909.5_Missense_Mutation_p.T415I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T415I|IL6ST_ENST00000381294.3_Missense_Mutation_p.T415I|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	415	Fibronectin type-III 3.		T -> I (in a colorectal cancer sample; somatic mutation).		interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	p.T415I(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGCAGGGATAGTTAAAACAGC	0.418000			O		hepatocellular ca								22	95					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782083	9782084	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:9782083_9782084delCT	ENST00000536656.1	+	17	2386_2387	c.2178_2179delCT	c.(2176-2181)agctfs	p.SS726fs	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000377346.4_Frame_Shift_Del_p.SS702fs|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.SS726fs			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	702					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCAAGCTGAGCTCTCAGAAGAC	0.634											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37	---	---	---	---					
HORMAD1	84072	broad.mit.edu	37	1	150679186	150679187	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:150679186_150679187delGA	ENST00000368993.2	-	10	751_752	c.646_647delTC	c.(646-648)afs	p.S216fs	HORMAD1_ENST00000368995.4_Frame_Shift_Del_p.S136fs|HORMAD1_ENST00000361824.2_Frame_Shift_Del_p.S216fs|HORMAD1_ENST00000322343.7_Frame_Shift_Del_p.S209fs			Q86X24	HORM1_HUMAN	HORMA domain containing 1	216	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGTGTTGAGACTTCTCCC	0.381													81	55	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													4	2	---	---	---	---					
RASA4CP	0	broad.mit.edu	37	7	44070514	44070514	+	RNA	DEL	G	G	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:44070514delG	ENST00000446874.1	-	0	502																											GGGGcacagagagggcaaagt	0.572													2	4	---	---	---	---					
SPATA31D5P	0	broad.mit.edu	37	9	84528612	84528614	+	RNA	DEL	TTG	TTG	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:84528612_84528614delTTG	ENST00000527857.1	+	0	221					NR_026851.1																						AGATTCCCTCTTGTTGTTTCCCA	0.389													5	2	---	---	---	---					
RABGAP1	23637	broad.mit.edu	37	9	125865401	125865402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:125865401_125865402insT	ENST00000373647.4	+	26	3253_3254	c.3119_3120insT	c.(3118-3120)agafs	p.R1040fs	RABGAP1_ENST00000373643.5_Frame_Shift_Ins_p.R379fs	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1040					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTTGCCCTCAATGAGGTGCAGG	0.535											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	22	---	---	---	---					
ANO2	57101	broad.mit.edu	37	12	5687128	5687129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:5687128_5687129insT	ENST00000546188.1	-	23	2505_2506	c.2434_2435insA	c.(2434-2436)cagfs	p.Q812fs	ANO2_ENST00000327087.8_Frame_Shift_Ins_p.Q811fs|ANO2_ENST00000356134.5_Frame_Shift_Ins_p.Q812fs			Q9NQ90	ANO2_HUMAN	anoctamin 2	816						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACGTTGCTGATAACAGAGAAC	0.520													32	53	---	---	---	---					
OR10G3	26533	broad.mit.edu	37	14	22038145	22038146	+	Frame_Shift_Ins	INS	-	-	CTCC			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:22038145_22038146insCTCC	ENST00000303532.1	-	1	729_730	c.730_731insGGAG	c.(730-732)ccafs	p.P244fs		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTACATGGGCTCCACAAGTT	0.569													18	53	---	---	---	---					
ZNF324	25799	broad.mit.edu	37	19	58983378	58983378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:58983378delA	ENST00000536459.2	+	4	2228	c.1519delA	c.(1519-1521)agfs	p.K507fs	ZNF324_ENST00000196482.3_Frame_Shift_Del_p.K507fs|ZNF324_ENST00000535298.1_Frame_Shift_Del_p.K284fs			O75467	Z324A_HUMAN	zinc finger protein 324	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TACCGGCGAGAAGACCGTCCG	0.667													9	26	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18300931	18300932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr22:18300931_18300932insG	ENST00000441493.2	-	26	4847_4848	c.4495_4496insC	c.(4495-4497)ggafs	p.G1499fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1499	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCAGGCTCCCGGGGGGGCCGC	0.678													2	4	---	---	---	---					
COL4A6	1288	broad.mit.edu	37	X	107413200	107413201	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:107413200_107413201insC	ENST00000334504.7	-	36	3772_3773	c.3539_3540insG	c.(3538-3540)gacfs	p.D1180fs	COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000538570.1_Intron	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1181	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TACCCTTGGTGCCCGGAAGCCC	0.535									Alport syndrome with Diffuse Leiomyomatosis				2	4	---	---	---	---