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
CTAGE5	4253	broad.mit.edu	37	14	39769086	39769086	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:39769086G>T	ENST00000553728.1	+	13	2509	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	CTAGE5_ENST00000557038.1_Missense_Mutation_p.V151L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.V236L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.V231L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.V219L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.V231L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.V202L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.V202L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.V231L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.V202L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.V156L																							AGAAGCTGAAGTATGGAAAGA	0.313000													6	45					2.0095e-06	2.63549e-06	1	1	0
SLMAP	7871	broad.mit.edu	37	3	57908625	57908625	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:57908625A>G	ENST00000295951.3	+	21	3435	c.2218A>G	c.(2218-2220)Aca>Gca	p.T740A	SLMAP_ENST00000495364.1_Missense_Mutation_p.T291A|SLMAP_ENST00000295952.3_Missense_Mutation_p.T740A|SLMAP_ENST00000494088.1_Missense_Mutation_p.T250A|SLMAP_ENST00000449503.2_Missense_Mutation_p.T719A|SLMAP_ENST00000442599.2_Missense_Mutation_p.T225A|SLMAP_ENST00000428312.1_Missense_Mutation_p.T757A			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	757					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTATGAAAAGACACAGACTGT	0.358000													6	53					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74327344	74327344	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:74327344C>G	ENST00000555661.1	+	3	285	c.140C>G	c.(139-141)tCt>tGt	p.S47C	RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000554885.1_Missense_Mutation_p.S23C|PTGR2_ENST00000267568.4_Missense_Mutation_p.S47C|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000555228.1_Missense_Mutation_p.S47C			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	47					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CTTTATCTTTCTGTGGATCCT	0.313000													6	35					0	0	1	0	0
SAC3D1	29901	broad.mit.edu	37	11	64811948	64811948	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:64811948G>T	ENST00000398846.1	+	2	1215	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.G276C	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						CTTGCCTCTGGGCTTCATGGT	0.647000													7	45					5.18039e-06	6.60401e-06	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246359	77246359	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:77246359C>T	ENST00000253506.5	+	9	2573	c.2204C>T	c.(2203-2205)gCg>gTg	p.735_735insV	NFATC1_ENST00000427363.2_Missense_Mutation_p.A735V|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.A263V|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.722_722insV|NFATC1_ENST00000397790.2_Missense_Mutation_p.263_263insV|NFATC1_ENST00000329101.4_Missense_Mutation_p.A722V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGCAGCTCGCGATGCCACCC	0.632000													7	160					0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146017200	146017200	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:146017200C>T	ENST00000262584.3	-	3	470	c.238G>A	c.(238-240)Gag>Aag	p.E80K	RPL8_ENST00000529163.1_Intron|RPL8_ENST00000394920.2_Missense_Mutation_p.E80K|RPL8_ENST00000528957.1_Missense_Mutation_p.E80K|RPL8_ENST00000527914.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TGAATGCCCTCGGCGGCAATG	0.642000													7	107					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387300	196387300	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:196387300G>T	ENST00000328557.4	+	3	989	c.786G>T	c.(784-786)ctG>ctT	p.L262L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		ACAACCAGCTGCTGTTCTTCC	0.622000													12	71					3.07112e-06	3.96554e-06	1	1	0
PSKH2	85481	broad.mit.edu	37	8	87076238	87076238	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:87076238G>C	ENST00000276616.2	-	2	882	c.808C>G	c.(808-810)Ctt>Gtt	p.L270V		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	270	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTCCTGTAAAGCCTTGTCTGG	0.418000													12	32					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44428678	44428678	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:44428678G>T	ENST00000378551.2	+	2	752	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	PPM1B_ENST00000282412.4_Missense_Mutation_p.D114Y|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.D114Y|PPM1B_ENST00000409432.3_Missense_Mutation_p.D114Y	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	114					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTGAAAATTGATGAATACAT	0.393000													18	62					5.35267e-07	7.20883e-07	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92375751	92375751	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:92375751G>T	ENST00000276609.3	+	13	1712	c.1473G>T	c.(1471-1473)aaG>aaT	p.K491N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.K491N|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.K491N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	491						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTAAAGTGAAGACAGAAATGG	0.254000													6	23					0.248553	0.251058	1	1	0
AMER1	139285	broad.mit.edu	37	X	63411187	63411187	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:63411187G>T	ENST00000330258.3	-	2	2252	c.1980C>A	c.(1978-1980)ggC>ggA	p.G660G	AMER1_ENST00000374869.3_Silent_p.G660G|AMER1_ENST00000403336.1_Silent_p.G660G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCACTGATGGGCCTAAGGGCC	0.597000													6	26					0.217242	0.220321	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55711857	55711857	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:55711857C>A	ENST00000376350.3	-	7	1189	c.1167G>T	c.(1165-1167)gtG>gtT	p.V389V	PTPRH_ENST00000263434.5_Silent_p.V211V|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	389	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGAGGTTTCTCACTGGGTTGG	0.552000													6	40					8.12818e-05	9.78899e-05	1	1	0
ZNF250	58500	broad.mit.edu	37	8	146107654	146107654	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:146107654G>T	ENST00000292579.7	-	6	1045	c.929C>A	c.(928-930)cCa>cAa	p.P310Q	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.P305Q|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ACACACATATGGCCTTTCTCC	0.532000													5	29					0.000602214	0.0006826	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154076561	154076561	+	Silent	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:154076561T>A	ENST00000368559.3	-	13	1817	c.1746A>T	c.(1744-1746)gcA>gcT	p.A582A	NUP210L_ENST00000271854.3_Silent_p.A582A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	582						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCTGTGAATGCCATGGCTT	0.378000													22	85					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32464548	32464548	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:32464548C>T	ENST00000266088.4	+	5	688	c.438C>T	c.(436-438)tcC>tcT	p.S146S	SLC5A1_ENST00000543737.1_Silent_p.S19S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	146					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTACCTTTCCCTTCTGTCCC	0.582000													4	47					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559943	140559943	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140559943G>T	ENST00000239444.2	+	1	2573	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		776					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATATTCAGGGCCATTCTT	0.423000													7	67					3.09899e-07	4.219e-07	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37326804	37326804	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:37326804C>T	ENST00000262825.5	+	8	1179	c.962C>T	c.(961-963)aCc>aTc	p.T321I	CSF2RB_ENST00000403662.3_Missense_Mutation_p.T315I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.T262I|CSF2RB_ENST00000406230.1_Missense_Mutation_p.T321I	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	315					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCCGCGACCCACGGCCAA	0.617000													10	33					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															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)		ccagcctccaactcccccttc	0.627000													8	31					0	0	1	0	0
PRR4	11272	broad.mit.edu	37	12	10999898	10999898	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:10999898T>C	ENST00000228811.4	-	3	206	c.169A>G	c.(169-171)Aga>Gga	p.R57G	PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	57	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CCAGGGGGTCTAGGTAGGAGT	0.517000													18	106					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18020416	18020416	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:18020416C>T	ENST00000262608.8	+	13	1748	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	CECR2_ENST00000400573.4_Missense_Mutation_p.S582F|CECR2_ENST00000400585.2_Missense_Mutation_p.S441F	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	624					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GTGGGCACTTCCAATGGCCGA	0.592000													5	45					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36785957	36785957	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:36785957G>A	ENST00000416007.4	-	2	278	c.191C>T	c.(190-192)tCg>tTg	p.S64L	MBIP_ENST00000359527.7_Missense_Mutation_p.S64L|MBIP_ENST00000318473.7_Missense_Mutation_p.S64L	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	64					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		CTGGAATGCCGAGAGGCTCTG	0.388000													4	45					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808189	82808189	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:82808189G>A	ENST00000265077.3	+	6	1581	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	VCAN_ENST00000502527.2_Missense_Mutation_p.S339N|VCAN_ENST00000343200.5_Missense_Mutation_p.S339N|VCAN_ENST00000512590.2_Missense_Mutation_p.S291N|VCAN_ENST00000342785.4_Missense_Mutation_p.S339N|VCAN_ENST00000513984.1_Missense_Mutation_p.S339N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	339	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCCCCTGATAGCAGATTTGAT	0.443000													5	25					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075446	100075446	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:100075446G>A	ENST00000300181.2	-	2	970	c.216C>T	c.(214-216)ttC>ttT	p.F72F	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	72					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCACCACCCGGAAACGGGAGG	0.706000													4	8					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139909953	139909953	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:139909953C>A	ENST00000265662.5	-	24	3757	c.3610G>T	c.(3610-3612)Ggc>Tgc	p.G1204C	ABCA2_ENST00000371605.3_Missense_Mutation_p.G1203C|ABCA2_ENST00000341511.6_Missense_Mutation_p.G1204C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1203	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCGGGGAGCCGCAGCACTTG	0.652000													3	17					0.004672	0.00504455	1	1	0
FOXP3	50943	broad.mit.edu	37	X	49108031	49108031	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:49108031C>A	ENST00000557224.1	-	9	1134	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W	FOXP3_ENST00000376197.1_Missense_Mutation_p.G364W|FOXP3_ENST00000376207.4_Intron|FOXP3_ENST00000376199.2_Intron|FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000455775.2_Intron			Q9BZS1	FOXP3_HUMAN	forkhead box P3	0					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CGTTCCTCCCCAATGTGCCTA	0.637000													6	27					0.00116845	0.00129798	1	1	0
KIAA2013	90231	broad.mit.edu	37	1	11985315	11985315	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:11985315G>A	ENST00000376572.3	-	1	1165	c.980C>T	c.(979-981)gCg>gTg	p.A327V	KIAA2013_ENST00000376576.3_Missense_Mutation_p.A327V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	327						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTCCGCCGCTGGCATGTC	0.597000													3	44					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821159	5821159	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:5821159G>A	ENST00000381095.3	-	5	2187	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	NLGN4X_ENST00000275857.6_Silent_p.S520S|NLGN4X_ENST00000381092.1_Silent_p.S520S|NLGN4X_ENST00000538097.1_Silent_p.S520S|NLGN4X_ENST00000381093.2_Silent_p.S540S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	520					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.S520R(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGACCACGGCGCTGAGCATGA	0.522000													10	66					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38919281	38919281	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:38919281A>T	ENST00000359357.3	+	80	12039	c.11785A>T	c.(11785-11787)Aag>Tag	p.K3929*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.K4146*|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.K3893*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCATTGGCCAAGAAACTGAA	0.398000													31	164					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283912	159283912	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:159283912A>G	ENST00000332217.5	-	1	537	c.538T>C	c.(538-540)Tgt>Cgt	p.C180R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTCACATCACAGAAGAAGTGG	0.498000													11	50					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31936260	31936260	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:31936260T>C	ENST00000375394.2	+	24	3127	c.3014T>C	c.(3013-3015)cTg>cCg	p.L1005P	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L812P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1005						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCCGGAAGCTGGAGGAGCTG	0.622000													8	33					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120265	38120265	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:38120265A>T	ENST00000406386.3	+	7	1957	c.1702A>T	c.(1702-1704)Aat>Tat	p.N568Y	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	568					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCTCTCCCAATAGAGCCAC	0.577000													17	133					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799677	39799677	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:39799677G>A	ENST00000564288.1	+	37	8194	c.7417G>A	c.(7417-7419)Gat>Aat	p.D2473N	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D913N|MACF1_ENST00000372915.3_Missense_Mutation_p.D2478N|MACF1_ENST00000567887.1_Missense_Mutation_p.D2510N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2478					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATAGACCCTGATAGTAAAGC	0.408000													6	131					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116020	44116020	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:44116020T>A	ENST00000262419.6	-	10	2895	c.2425A>T	c.(2425-2427)Agc>Tgc	p.S809C	KANSL1_ENST00000572904.1_Missense_Mutation_p.S809C|KANSL1_ENST00000432791.1_Missense_Mutation_p.S809C|KANSL1_ENST00000393476.3_Missense_Mutation_p.S103C|KANSL1_ENST00000575318.1_Missense_Mutation_p.S746C|KANSL1_ENST00000574590.1_Missense_Mutation_p.S809C	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	809						MLL1 complex	protein binding										GCCAAGTAGCTCGAACTGCTC	0.517000													11	58					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410618	37410618	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:37410618G>C	ENST00000535679.1	-	3	351	c.352C>G	c.(352-354)Cac>Gac	p.H118D	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H80D|SULT6B1_ENST00000407963.1_Missense_Mutation_p.H80D			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	118						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TAGTGGAGGTGAGTTGCCAAA	0.378000													9	54					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202269	138202269	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:138202269G>A	ENST00000237289.4	+	9	2252	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	729	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCTGCCGCAGCGAGGAGCTC	0.662000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								4	72					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958365	121958365	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:121958365T>C	ENST00000379692.4	-	4	1287	c.761A>G	c.(760-762)cAc>cGc	p.H254R	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	254										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAATCCAAAGTGGGCAAAGTC	0.473000													14	43					0	0	1	0	0
NFU1	27247	broad.mit.edu	37	2	69664547	69664547	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:69664547G>T	ENST00000410022.2	-	1	213	c.8C>A	c.(7-9)gCg>gAg	p.A3E	NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000303698.3_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	3					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						CCTGGCCGTCGCCGCCATCTT	0.682000											OREG0014671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					1.23904e-05	1.5597e-05	1	1	0
RBMX	27316	broad.mit.edu	37	X	135961219	135961219	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:135961219C>A	ENST00000562646.1	-	3	327	c.173G>T	c.(172-174)aGc>aTc	p.S58I	RBMX_ENST00000431446.3_Missense_Mutation_p.S58I|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.S58I			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	58	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTCTGCTGGGCTTTCAAAGGT	0.383000													7	154					3.09899e-07	4.219e-07	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432493	140432493	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140432493G>T	ENST00000306549.3	+	1	1515	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGATCTTGATTTGGGTGA	0.398000													5	42					0.000602214	0.0006826	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29451006	29451006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:29451006C>A	ENST00000283351.4	-	15	2475	c.2140G>T	c.(2140-2142)Gag>Tag	p.E714*	TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.E660*	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	714					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTGTTCCTCAAGTTCTCGC	0.353000													5	16					0.000602214	0.0006826	1	1	0
PGK2	5232	broad.mit.edu	37	6	49754016	49754016	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:49754016G>C	ENST00000304801.3	-	1	1037	c.885C>G	c.(883-885)aaC>aaG	p.N295K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	295					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CAACCTGAGCGTTCTCGTCAA	0.453000													38	185					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737283	248737283	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248737283G>T	ENST00000328782.2	-	1	797	c.776C>A	c.(775-777)gCt>gAt	p.A259D		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGAAGGAAGCACCGAAGAG	0.557000													5	61					3.59834e-05	4.4294e-05	1	1	0
TNR	7143	broad.mit.edu	37	1	175375718	175375718	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:175375718C>A	ENST00000367674.1	-	3	841	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L	TNR_ENST00000263525.2_Missense_Mutation_p.V45L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	45					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCCTCCACTGACTGTCTC	0.522000													26	144					7.41945e-09	1.07432e-08	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629775	9629775	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:9629775T>A	ENST00000382492.2	-	1	688	c.370A>T	c.(370-372)Aag>Tag	p.K124*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	124					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGGACCAGCTTGGATATCCTC	0.468000													7	36					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569770	53569770	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:53569770T>A	ENST00000025008.5	-	15	3142	c.2619A>T	c.(2617-2619)gaA>gaT	p.E873D	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E873D|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E873D	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	873					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TACCTTCATATTCATTTTTTA	0.289000													6	30					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103293174	103293174	+	Silent	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:103293174A>G	ENST00000424685.2	-	14	1746	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P	RELN_ENST00000343529.5_Silent_p.P529P|RELN_ENST00000428762.1_Silent_p.P529P			P78509	RELN_HUMAN	reelin	529					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGAAGTTCAGGATTGATGA	0.418000													12	75					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36066861	36066861	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:36066861C>G	ENST00000282507.3	-	1	132	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G11R|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	11						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGGAAGCCCACTAGAAGA	0.612000													38	111					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36742769	36742769	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:36742769C>T	ENST00000244751.2	-	10	1330	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	236	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGCTCTCACGGGAATGGAG	0.517000													5	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089301	9089301	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:9089301G>A	ENST00000397910.4	-	1	2717	c.2514C>T	c.(2512-2514)ctC>ctT	p.L838L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	838	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L838L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGGAGGCTGAGAGTGCTAG	0.473000													6	102					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725032	49725032	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:49725032C>A	ENST00000449682.2	-	3	673	c.312G>T	c.(310-312)acG>acT	p.T104T	MST1_ENST00000545762.1_Silent_p.T90T|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.T29T	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	90	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCGCAGCCTCGTGTGGGGCG	0.612000													5	37					0.0293803	0.0306657	1	1	0
TFRC	7037	broad.mit.edu	37	3	195800873	195800873	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:195800873C>A	ENST00000360110.4	-	4	531	c.362G>T	c.(361-363)cGc>cTc	p.R121L	TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Missense_Mutation_p.R121L|TFRC_ENST00000420415.1_Missense_Mutation_p.R40L|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	121					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	p.R121H(2)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAATATAAGCGACGTGCTGC	0.517000			T	BCL6	NHL						OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	56					0.000274275	0.000321056	1	1	0
EVI5	7813	broad.mit.edu	37	1	93170178	93170178	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:93170178C>A	ENST00000370331.1	-	3	414	c.405G>T	c.(403-405)tgG>tgT	p.W135C	EVI5_ENST00000543509.1_Missense_Mutation_p.W135C|EVI5_ENST00000540033.1_Missense_Mutation_p.W135C	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	135	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCCAAAGAATCCAAGAATCTT	0.378000													11	60					0.010729	0.0113882	1	1	0
TAS2R39	259285	broad.mit.edu	37	7	142881464	142881464	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:142881464T>A	ENST00000446620.1	+	1	953	c.953T>A	c.(952-954)cTg>cAg	p.L318Q		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	318					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AACCCTGGGCTGAGAAGAGCC	0.498000													4	33					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541894	15541894	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:15541894C>G	ENST00000428417.1	+	2	757	c.311C>G	c.(310-312)aCa>aGa	p.T104R	TMEM51_ENST00000376014.3_Missense_Mutation_p.T104R|TMEM51_ENST00000376008.2_Missense_Mutation_p.T104R|TMEM51_ENST00000434578.2_Missense_Mutation_p.T104R|TMEM51_ENST00000400796.3_Missense_Mutation_p.T104R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	104						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CAGCACCCGACAGGCGCTGGG	0.647000													3	21					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423890	190423890	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:190423890A>T	ENST00000367462.3	-	2	362	c.131T>A	c.(130-132)tTc>tAc	p.F44Y	FAM5C_ENST00000534846.1_Missense_Mutation_p.S6T|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		44						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGCCAGTCGAAGGGGCTTGT	0.498000													11	45					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455494	29455494	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:29455494C>A	ENST00000377127.3	-	1	244	c.186G>T	c.(184-186)atG>atT	p.M62I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	62						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGCTCATCTGCATATGTATGG	0.517000													9	42					0.000274275	0.000321056	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113694713	113694713	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:113694713C>T	ENST00000297405.5	-	16	2879	c.2635G>A	c.(2635-2637)Gat>Aat	p.D879N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D839N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D775N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D879N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	879	Sushi 4.					integral to membrane|plasma membrane		p.D879Y(1)|p.D839Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTTCCATCCATAAGAATA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	80					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690811	38690811	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:38690811G>A	ENST00000449981.2	+	2	335	c.226G>A	c.(226-228)Gat>Aat	p.D76N						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCCAGATGATCATGAAGC	0.507000													11	43					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48827892	48827892	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:48827892G>T	ENST00000505658.1	+	10	1358	c.1169G>T	c.(1168-1170)aGt>aTt	p.S390I	LUC7L3_ENST00000393227.2_Missense_Mutation_p.S390I|LUC7L3_ENST00000240304.1_Missense_Mutation_p.S390I|LUC7L3_ENST00000544170.1_Missense_Mutation_p.S314I			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	390	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAAAAGTAGTGTGAAGTCC	0.353000													16	64					1.52009e-12	2.47262e-12	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27017988	27017988	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:27017988G>T	ENST00000314616.6	+	27	3823	c.3540G>T	c.(3538-3540)caG>caT	p.Q1180H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Q1180H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1180					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCGTCCCCAGGGTGAGAGCT	0.552000													13	39					1.61879e-10	2.4502e-10	1	1	0
PSD2	84249	broad.mit.edu	37	5	139221972	139221972	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:139221972C>T	ENST00000274710.3	+	15	2434	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	743					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTTCTCTCCGGAAGACAC	0.547000													9	46					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993207	52993207	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:52993207A>T	ENST00000575882.1	+	7	1057	c.704A>T	c.(703-705)gAc>gTc	p.D235V	TOM1L1_ENST00000572405.1_Missense_Mutation_p.D200V|TOM1L1_ENST00000572158.1_Missense_Mutation_p.D228V|TOM1L1_ENST00000570371.1_Missense_Mutation_p.D235V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.D123V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.D158V|TOM1L1_ENST00000575333.1_Missense_Mutation_p.D235V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.D158V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.D235V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	235	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AACCATGAAGACATAGAGCTT	0.408000													26	82					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078568	74078568	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:74078568C>G	ENST00000334586.5	+	9	1156	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000335146.7_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	358					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GTAAAGGGGTCACAGAGAAGC	0.562000													8	51					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480035	73480035	+	Silent	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:73480035A>G	ENST00000523207.1	+	2	654	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	22					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCTTCCTCCAGAGCCTGTGG	0.542000													25	74					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298032	62298032	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:62298032G>A	ENST00000378024.4	-	5	4131	c.3857C>T	c.(3856-3858)tCa>tTa	p.S1286L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1286					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAT	0.522000													9	314					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743629	147743629	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:147743629G>T	ENST00000370460.2	+	3	860	c.381G>T	c.(379-381)caG>caT	p.Q127H	AFF2_ENST00000342251.3_Missense_Mutation_p.Q123H|AFF2_ENST00000370457.5_Missense_Mutation_p.Q123H|AFF2_ENST00000370458.1_Missense_Mutation_p.Q123H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	127					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCACCAGGATAATACCC	0.408000													45	293					1.00001e-27	1.77661e-27	1	1	0
USH2A	7399	broad.mit.edu	37	1	216373399	216373399	+	Silent	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:216373399G>C	ENST00000366943.2	-	17	3767	c.3381C>G	c.(3379-3381)acC>acG	p.T1127T	USH2A_ENST00000307340.3_Silent_p.T1127T|USH2A_ENST00000366942.3_Silent_p.T1127T|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1127	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACATTGGTGGTCTCAATGT	0.353000										HNSCC(13;0.011)			16	78					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21064272	21064272	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:21064272C>A	ENST00000255882.6	-	53	6183	c.6097G>T	c.(6097-6099)Gcg>Tcg	p.A2033S	PI4KA_ENST00000572273.1_Missense_Mutation_p.A1975S|PI4KA_ENST00000414196.3_Missense_Mutation_p.A785S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1975					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGACGACCGCGTCCATGTAG	0.612000													3	48					1	1	1	1	0
SLC30A6	55676	broad.mit.edu	37	2	32396426	32396426	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:32396426T>C	ENST00000282587.5	+	2	111	c.74T>C	c.(73-75)gTa>gCa	p.V25A	SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.V25A|SLC30A6_ENST00000435660.1_Missense_Mutation_p.V25A|SLC30A6_ENST00000538303.1_Intron	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	25						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTAGACTTGTAGCAGCTGAC	0.333000													9	55					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147240	26147240	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:26147240C>G	ENST00000331351.5	+	2	1434	c.1042C>G	c.(1042-1044)Ccc>Gcc	p.P348A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	348					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAGTATTTCCCCCTCTCCCA	0.537000													6	128					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26107851	26107851	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:26107851G>T	ENST00000313735.6	-	9	1179	c.946C>A	c.(946-948)Cct>Act	p.P316T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	316					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGAGCTCAGGGTCACGGCCA	0.617000													17	36					1.02788e-11	1.61433e-11	1	1	0
DMD	1756	broad.mit.edu	37	X	31676241	31676241	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:31676241G>T	ENST00000357033.4	-	54	8099	c.7893C>A	c.(7891-7893)cgC>cgA	p.R2631R	DMD_ENST00000474231.1_Silent_p.R171R|DMD_ENST00000378677.2_Silent_p.R2627R|DMD_ENST00000359836.1_Silent_p.R171R|DMD_ENST00000541735.1_Silent_p.R171R|DMD_ENST00000343523.2_Silent_p.R171R|DMD_ENST00000378707.3_Silent_p.R171R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2631					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGCCACTGGCGGAGGTCTT	0.393000													10	90					0.361761	0.363211	1	1	0
GPR98	84059	broad.mit.edu	37	5	89990067	89990067	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:89990067G>T	ENST00000405460.2	+	33	7590	c.7494G>T	c.(7492-7494)gtG>gtT	p.V2498V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2498					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCAGGCTGTGGCTGGGAGTG	0.473000													3	48					0.004672	0.00504455	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643240	1643240	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:1643240A>C	ENST00000399682.1	-	1	128	c.84T>G	c.(82-84)tgT>tgG	p.C28W		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	28						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcccccacagccagagc	0.682000													6	57					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197559822	197559822	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:197559822A>T	ENST00000389175.4	+	14	1697	c.1562A>T	c.(1561-1563)aAg>aTg	p.K521M	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.K189M	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	521										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAGAGAATAAGCACCTGGCA	0.358000													9	35					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595072	123595072	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:123595072G>T	ENST00000340011.5	+	4	1333	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	SPAM1_ENST00000402183.2_Missense_Mutation_p.G326C|SPAM1_ENST00000439500.1_Missense_Mutation_p.G326C|SPAM1_ENST00000223028.7_Missense_Mutation_p.G326C|SPAM1_ENST00000460182.1_Missense_Mutation_p.G326C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	326					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTATACATTTGGCGAAACTGT	0.373000													7	89					0.00198382	0.00217959	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634213	32634213	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:32634213C>A	ENST00000242310.4	-	1	1454	c.1365G>T	c.(1363-1365)tgG>tgT	p.W455C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	455					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAGAAGGAAGCCAGCCTGCCA	0.468000													36	151					1.08052e-11	1.68642e-11	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200974540	200974540	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:200974540A>G	ENST00000332129.2	-	5	944	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	KIF21B_ENST00000360529.5_Missense_Mutation_p.S210P|KIF21B_ENST00000422435.2_Missense_Mutation_p.S210P|KIF21B_ENST00000461742.2_Missense_Mutation_p.S210P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	210	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGGTGCGGGACAGGGCCCCC	0.627000													7	54					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28194986	28194986	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:28194986C>T	ENST00000527436.1	+	2	225	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R42C|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.R42C|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R42C|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.R42C					zinc finger and SCAN domain containing 9																		CAGACTGAAACGCAGTAATCC	0.502000													5	59					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31159900	31159900	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:31159900G>T	ENST00000268281.4	-	5	427	c.369C>A	c.(367-369)gcC>gcA	p.A123A	PRSS36_ENST00000418068.2_Silent_p.A123A|PRSS36_ENST00000569305.1_Silent_p.A123A	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	123	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCACGATGGCGGCCACTGCGC	0.751000													7	32					1.26484e-09	1.86379e-09	1	1	0
RP11-125O5.2	0	broad.mit.edu	37	12	21229492	21229492	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:21229492C>A	ENST00000590779.1	+	3	215	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	SLCO1B7_ENST00000421593.2_Silent_p.S571S|LST3_ENST00000381541.3_Silent_p.S618S|SLCO1B7_ENST00000554957.1_Silent_p.S618S|SLCO1B3_ENST00000553473.1_Silent_p.S679S|LST3_ENST00000540229.1_Silent_p.S679S																							TATATAATTCCACATATTTGG	0.323000													16	108					6.31663e-08	8.86451e-08	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95759040	95759040	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:95759040G>T	ENST00000311106.3	-	4	757	c.520C>A	c.(520-522)Cac>Aac	p.H174N	PCSK1_ENST00000508626.1_Missense_Mutation_p.H127N|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	174	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTCCGTGTGATTCCACTCC	0.473000													5	28					0.014758	0.0155331	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140731393	140731393	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140731393C>A	ENST00000523390.1	+	1	1566	c.1566C>A	c.(1564-1566)cgC>cgA	p.R522R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTGCGCGCCTTCGAGC	0.692000													4	61					0.150653	0.153409	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	72994399	72994399	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:72994399A>G	ENST00000308744.6	+	2	495	c.397A>G	c.(397-399)Aat>Gat	p.N133D	NPFFR2_ENST00000395999.1_Missense_Mutation_p.N34D|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N31D|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	133					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCAGATATTAATATTACCTA	0.378000													12	40					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69092824	69092824	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:69092824C>G	ENST00000295379.1	-	2	1372	c.1214G>C	c.(1213-1215)gGc>gCc	p.G405A		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	405					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGTGACGACGCCTTTGTCTAA	0.463000													12	124					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040751	39040751	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:39040751C>G	ENST00000373256.4	+	6	666	c.623C>G	c.(622-624)gCc>gGc	p.A208G		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	208					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TATAGCACAGCCGCCCAGCAG	0.592000													17	57					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086269	55086269	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:55086269C>A	ENST00000251377.3	+	5	557	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	LILRA2_ENST00000391737.1_Missense_Mutation_p.Q130K|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q142K|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.Q142K|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGTGACCCTCCAGTGTGTCTC	0.552000													29	98					1.39806e-14	2.35834e-14	1	1	0
OR2V2	285659	broad.mit.edu	37	5	180582309	180582309	+	Missense_Mutation	SNP	C	C	G	rs147854327		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:180582309C>G	ENST00000328275.1	+	1	367	c.367C>G	c.(367-369)Cgc>Ggc	p.R123G		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTTATGACCGCTATGTGGC	0.522000													11	73					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353781	47353781	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:47353781A>T	ENST00000545968.1	-	33	3710	c.3656T>A	c.(3655-3657)cTg>cAg	p.L1219Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.L1218Q|MYBPC3_ENST00000399249.2_Missense_Mutation_p.L1219Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1218	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCCCAGGTCCAGGCCATTCTT	0.562000													15	51					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977960	107977960	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:107977960C>A	ENST00000372129.2	-	1	1691	c.1615G>T	c.(1615-1617)Ggc>Tgc	p.G539C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	539						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCTGAGCCCTGGCCATTT	0.632000													33	173					8.4185e-14	1.40589e-13	1	1	0
FMO2	2327	broad.mit.edu	37	1	171162516	171162516	+	Missense_Mutation	SNP	G	G	A	rs55708639	byFrequency	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:171162516G>A	ENST00000441535.1	+	3	292	c.175G>A	c.(175-177)Gtt>Att	p.V59I	FMO2_ENST00000209929.7_Missense_Mutation_p.V59I|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	59			V -> I (in dbSNP:rs55708639).		drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAATCTGTCGTTACCAACAC	0.343000													4	87					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49800494	49800494	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:49800494G>A	ENST00000299338.6	-	11	1229	c.926C>T	c.(925-927)tCc>tTc	p.S309F	FAM227B_ENST00000561064.1_Missense_Mutation_p.S275F	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGTGGTTGTGGAGAGTTCTTT	0.323000													4	33					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500469	119500469	+	Silent	SNP	G	G	C	rs145284908		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:119500469G>C	ENST00000218008.3	+	2	210	c.153G>C	c.(151-153)tcG>tcC	p.S51S	ATP1B4_ENST00000361319.3_Silent_p.S51S|ATP1B4_ENST00000539306.1_Silent_p.S51S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	51	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGCCCAAATCggaggaggagg	0.542000													9	47					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731072	57731072	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:57731072G>T	ENST00000281282.5	+	2	953	c.875G>T	c.(874-876)cGg>cTg	p.R292L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	292	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GATGGAGCTCGGTCCCGGAGG	0.572000													8	38					5.18039e-06	6.60401e-06	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43815215	43815215	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:43815215C>A	ENST00000382031.1	+	5	2289	c.2258C>A	c.(2257-2259)cCa>cAa	p.P753Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.P515Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.P515Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	515						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTACCACTCCCAACCATCAGT	0.572000													18	38					1.99824e-07	2.76551e-07	1	1	0
HRNR	388697	broad.mit.edu	37	1	152192017	152192017	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:152192017G>A	ENST00000368801.2	-	3	2163	c.2088C>T	c.(2086-2088)ggC>ggT	p.G696G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	696					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGAAGACTGGCCTGAGACAG	0.572000													37	190					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842379	28842379	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:28842379C>G	ENST00000336783.4	+	10	1474	c.1307C>G	c.(1306-1308)cCa>cGa	p.P436R	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436R|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436R|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436R|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436R|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436R|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436R	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	436						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTTCTGTTCCACCTCCTCCT	0.473000													3	18					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703528	44703528	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:44703528C>A	ENST00000339042.4	+	1	280	c.150C>A	c.(148-150)gcC>gcA	p.A50A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	50	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCATCACCGCCATTGTCAATG	0.512000													28	91					3.65163e-15	6.20158e-15	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11550416	11550416	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:11550416G>T	ENST00000262442.3	+	12	2066	c.1998G>T	c.(1996-1998)tgG>tgT	p.W666C	DNAH9_ENST00000454412.2_Missense_Mutation_p.W666C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	666	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGAGGATTGGTGCCGGACAG	0.493000													12	49					5.50884e-06	7.00489e-06	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107413872	107413872	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:107413872G>A	ENST00000394872.2	-	35	3694	c.3463C>T	c.(3463-3465)Cct>Tct	p.P1155S	COL4A6_ENST00000334504.7_Missense_Mutation_p.P1154S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1154S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1154S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1155S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1155	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						GATCCTAGAGGCCCAATTGCC	0.502000									Alport syndrome with Diffuse Leiomyomatosis				19	217					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496819	216496819	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:216496819C>G	ENST00000366943.2	-	8	1933	c.1547G>C	c.(1546-1548)gGg>gCg	p.G516A	USH2A_ENST00000307340.3_Missense_Mutation_p.G516A|USH2A_ENST00000366942.3_Missense_Mutation_p.G516A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAATACCTCCCACTAATGGT	0.368000										HNSCC(13;0.011)			22	60					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526756	16526756	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:16526756T>C	ENST00000311331.7	-	6	1535	c.1444A>G	c.(1444-1446)Aga>Gga	p.R482G		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAATTACTTCTATAGGCTTTT	0.368000													22	46					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4904023	4904023	+	Silent	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:4904023C>G	ENST00000380378.1	+	1	975	c.975C>G	c.(973-975)acC>acG	p.T325T	OR51T1_ENST00000322049.1_Silent_p.T298T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGAAGACCAAGACAATCC	0.493000													4	83					0	0	1	0	0
GAGE1	2543	broad.mit.edu	37	X	49369623	49369623	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:49369623C>A	ENST00000381709.2	+	5	465	c.354C>A	c.(352-354)gcC>gcA	p.A118A	GAGE1_ENST00000381700.6_Intron			Q13065	GAGE1_HUMAN	G antigen 1	118					cellular defense response							Ovarian(276;0.236)					actatgttgcccagactggGA	0.413000													6	40					8.12818e-05	9.78899e-05	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54304485	54304485	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:54304485G>T	ENST00000324134.6	-	7	2920	c.2752C>A	c.(2752-2754)Ctg>Atg	p.L918M	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.L918M|NLRP12_ENST00000345770.5_Missense_Mutation_p.L919M|NLRP12_ENST00000391775.3_Missense_Mutation_p.L918M|NLRP12_ENST00000391773.1_Missense_Mutation_p.L919M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	918					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACTCACCGCAGGGTCTGGAGC	0.622000													7	24					0.0381472	0.0397334	1	1	0
FOXL2	668	broad.mit.edu	37	3	138665256	138665256	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:138665256G>T	ENST00000330315.3	-	1	726	c.309C>A	c.(307-309)cgC>cgA	p.R103R		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	103			R -> C (in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TGAGGTTGTGGCGGATGCTAT	0.602000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						12	37					0.000978159	0.00110373	1	1	0
ATG10	83734	broad.mit.edu	37	5	81474313	81474313	+	Silent	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:81474313G>C	ENST00000282185.3	+	5	654	c.360G>C	c.(358-360)ggG>ggC	p.G120G	ATG10_ENST00000513634.1_Silent_p.G120G|ATG10_ENST00000514253.2_3'UTR|ATG10_ENST00000458350.3_Silent_p.G120G	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	120					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCACAGATGGGAGACCTTTAA	0.428000													10	49					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27450052	27450052	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:27450052C>T	ENST00000375946.4	+	4	1097	c.494C>T	c.(493-495)tCt>tTt	p.S165F	MASTL_ENST00000375940.4_Missense_Mutation_p.S165F|MASTL_ENST00000342386.6_Missense_Mutation_p.S165F	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	165	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTTATTTCTAATGAGGGT	0.313000													9	48					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603753	47603753	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:47603753G>T	ENST00000263774.4	+	5	577	c.495G>T	c.(493-495)tgG>tgT	p.W165C	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	165					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CAGCCAACTGGTATGAAAGGG	0.547000													27	89					7.92952e-12	1.25321e-11	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173998772	173998772	+	Silent	SNP	T	T	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:173998772T>G	ENST00000457714.1	+	7	2580	c.2151T>G	c.(2149-2151)acT>acG	p.T717T	NLGN1_ENST00000545397.1_Silent_p.T717T|NLGN1_ENST00000401917.3_Silent_p.T757T|NLGN1_ENST00000361589.4_Silent_p.T717T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	734					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTCAGCGCACTACTACCAATG	0.453000													16	71					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657052	40657052	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:40657052G>T	ENST00000406785.1	-	2	558	c.369C>A	c.(367-369)acC>acA	p.T123T	SLC8A1_ENST00000542756.1_Silent_p.T123T|SLC8A1_ENST00000542024.1_Silent_p.T123T|SLC8A1_ENST00000408028.2_Silent_p.T123T|SLC8A1_ENST00000406391.2_Silent_p.T123T|SLC8A1_ENST00000405901.3_Silent_p.T123T|SLC8A1_ENST00000405269.1_Silent_p.T123T|SLC8A1_ENST00000403092.1_Silent_p.T123T|SLC8A1_ENST00000402441.1_Silent_p.T123T|SLC8A1_ENST00000332839.4_Silent_p.T123T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	123					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGTTGTCTTGGTGGTCTCTC	0.418000													6	86					5.9392e-07	7.95599e-07	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63551458	63551458	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:63551458T>A	ENST00000374852.3	-	11	1398	c.1331A>T	c.(1330-1332)cAg>cTg	p.Q444L	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	444	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCGATCCTTCTGGCAGTTACC	0.433000													5	23					0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	208986412	208986412	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:208986412G>T	ENST00000264376.4	-	3	537	c.510C>A	c.(508-510)gtC>gtA	p.V170V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	170	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGAAATCTATGACTCTCCTCA	0.468000													15	31					5.01169e-05	6.12405e-05	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211093214	211093214	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:211093214G>T	ENST00000367007.4	-	7	1318	c.1149C>A	c.(1147-1149)acC>acA	p.T383T	KCNH1_ENST00000271751.4_Silent_p.T410T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	410					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGATTGTCTTGGTGTCCTCGT	0.547000													23	94					5.26018e-13	8.64049e-13	1	1	0
DUPD1	338599	broad.mit.edu	37	10	76818113	76818113	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:76818113G>T	ENST00000338487.5	-	1	159	c.160C>A	c.(160-162)Cac>Aac	p.H54N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	54	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCGTTGACGTGGGTGTACTGG	0.647000													12	51					0.0167234	0.0175281	1	1	0
MYH1	4619	broad.mit.edu	37	17	10397754	10397754	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:10397754G>C	ENST00000226207.5	-	39	5678	c.5584C>G	c.(5584-5586)Cgc>Ggc	p.R1862G	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1862						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATATTCTTGCGGTCTTCCTCA	0.398000													19	74					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86773170	86773170	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:86773170C>A	ENST00000373119.4	+	1	419	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q92K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	92						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCAGAATTTGCAGCAACATAA	0.448000													7	51					0.00307968	0.00335417	1	1	0
NOMO1	23420	broad.mit.edu	37	16	14978234	14978234	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:14978234G>A	ENST00000287667.7	+	27	3288	c.3117G>A	c.(3115-3117)ggG>ggA	p.G1039G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1039						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCTAGGTTGGGAATAATGACA	0.418000													16	93					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38913708	38913708	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:38913708C>T	ENST00000450244.1	-	20	3669	c.3471G>A	c.(3469-3471)gcG>gcA	p.A1157A	SCN11A_ENST00000444237.2_Silent_p.A1157A|SCN11A_ENST00000456224.3_Silent_p.A1119A|SCN11A_ENST00000302328.3_Silent_p.A1157A			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1157					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTGGGACAGCGCACGAAGAG	0.478000													19	132					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469551	72469551	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:72469551G>T	ENST00000296776.5	+	1	530	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	161						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GCAGTCTGTGGTGAGCCCCTG	0.542000													5	64					0.000602214	0.0006826	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524452	44524452	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr21:44524452C>A	ENST00000291552.4	-	2	197	c.105G>T	c.(103-105)cgG>cgT	p.R35R	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.R35R	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	35					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TATTGTGCAACCGAGAGCACC	0.353000			Mis		"""CLL, MDS"""								3	30					0.150653	0.153409	1	1	0
CLCC1	23155	broad.mit.edu	37	1	109479738	109479738	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:109479738T>C	ENST00000369971.2	-	10	1473	c.1344A>G	c.(1342-1344)ccA>ccG	p.P448P	CLCC1_ENST00000369968.2_Silent_p.P263P|CLCC1_ENST00000415331.1_Silent_p.P398P|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369969.2_Silent_p.P327P|CLCC1_ENST00000369970.3_Silent_p.P398P|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Silent_p.P448P|CLCC1_ENST00000348264.2_Silent_p.P263P|CLCC1_ENST00000302500.4_Silent_p.P327P	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	448						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCTCTGCGTCTGGTACATCAA	0.478000													10	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486381	179486381	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:179486381G>T	ENST00000589042.1	-	245	45394	c.45170C>A	c.(45169-45171)cCt>cAt	p.P15057H	TTN_ENST00000342992.6_Missense_Mutation_p.P12489H|TTN_ENST00000342175.6_Missense_Mutation_p.P6184H|TTN_ENST00000591111.1_Missense_Mutation_p.P13416H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5992H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6117H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13416	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGCGCCAGGTTTGGAGAC	0.403000													5	43					0.00116845	0.00129798	1	1	0
NXF3	56000	broad.mit.edu	37	X	102338594	102338594	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:102338594C>T	ENST00000395065.3	-	4	479	c.378G>A	c.(376-378)gaG>gaA	p.E126E	NXF3_ENST00000425463.2_Silent_p.E37E|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	126	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCAGCCACTTCTCATTGTATT	0.423000													24	91					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405523	28405523	+	Splice_Site	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:28405523G>C	ENST00000394835.3	+	15	3219		c.e15+1		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCATGCAGGTACGTTTCCT	0.458000													4	33					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564609	5564609	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:5564609G>C	ENST00000310917.2	-	22	4384	c.3653C>G	c.(3652-3654)gCc>gGc	p.A1218G	EVC2_ENST00000344408.5_Missense_Mutation_p.A1298G|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1298						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGCCTTTTTGGCATTCAAAAA	0.488000													14	85					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732821	120732821	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:120732821G>T	ENST00000527524.2	+	9	1185	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W	GRIK4_ENST00000438375.2_Missense_Mutation_p.G300W			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	300					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCCCTTCACTGGGCCTGCGGT	0.567000													41	142					4.0492e-12	6.48131e-12	1	1	0
MYH3	4621	broad.mit.edu	37	17	10553001	10553001	+	Splice_Site	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:10553001C>T	ENST00000583535.1	-	7	622	c.533_splice	c.e7-1	p.G179_splice	MYH3_ENST00000226209.7_Splice_Site_p.G179_splice	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	179	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCGGATTCTCCGCTGTACAGA	0.483000													5	76					0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3526662	3526662	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:3526662C>T	ENST00000500728.2	-	2	467	c.321G>A	c.(319-321)aaG>aaA	p.K107K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	107					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GTCTCGCTTCCTTCTCCCCAT	0.512000													48	246					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811055	123811055	+	Silent	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:123811055T>A	ENST00000307033.2	+	1	806	c.732T>A	c.(730-732)atT>atA	p.I244I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTCTCACATTGCTGTGGTGA	0.532000													10	138					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421372	89421372	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:89421372C>A	ENST00000359595.3	-	5	1126	c.912G>T	c.(910-912)aaG>aaT	p.K304N	HAPLN3_ENST00000562889.1_Missense_Mutation_p.K366N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	304	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGCCATGGAACTTCCAGGCGG	0.637000													27	83					1.42536e-11	2.21771e-11	1	1	0
ALG10	84920	broad.mit.edu	37	12	34179442	34179442	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:34179442G>T	ENST00000266483.2	+	3	1333	c.1014G>T	c.(1012-1014)tgG>tgT	p.W338C	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTAGTTTGGAAATTCACTT	0.308000													17	72					4.14922e-12	6.59923e-12	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552615	43552615	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:43552615A>T	ENST00000220420.5	-	2	180	c.173T>A	c.(172-174)aTc>aAc	p.I58N	TGM5_ENST00000349114.4_Missense_Mutation_p.I58N	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	58					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AACCACGAAGATGATGTTGTC	0.597000													11	49					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403489	85403489	+	Silent	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:85403489A>G	ENST00000370608.3	-	11	1351	c.1284T>C	c.(1282-1284)taT>taC	p.Y428Y	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.Y400Y	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	428						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGTAACCCAGATAAATCATAC	0.453000													10	42					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902833	16902833	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:16902833C>A	ENST00000430580.2	-	19	2935	c.2048G>T	c.(2047-2049)gGg>gTg	p.G683V	NBPF1_ENST00000432949.1_Missense_Mutation_p.G141V|NBPF1_ENST00000287968.8_Missense_Mutation_p.G48V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	683						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGTCCTGCCCCTGGGACTT	0.577000													19	851					0.000566183	0.000658139	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19753542	19753542	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr13:19753542C>A	ENST00000400113.3	-	2	269	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	55					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CAGCTCCAGTCTCACTGAAGA	0.552000													20	73					7.45023e-12	1.18119e-11	1	1	0
TMLHE	55217	broad.mit.edu	37	X	154741370	154741370	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:154741370C>A	ENST00000334398.3	-	5	867	c.722G>T	c.(721-723)cGg>cTg	p.R241L	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.R241L	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGTGTGCCGATCCAGAGC	0.413000													11	101					1.08611e-07	1.50731e-07	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109365489	109365489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:109365489C>T	ENST00000283195.6	+	9	1303	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	393					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTTTCTAGTCAGTCACCTAA	0.373000													17	208					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736079	158736079	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:158736079A>T	ENST00000335094.2	-	1	413	c.394T>A	c.(394-396)Tac>Aac	p.Y132N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGGGTTGGGTAGTGGAGGGGC	0.517000													6	34					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525484	248525484	+	Missense_Mutation	SNP	G	G	T	rs151201153	by1000genomes	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248525484G>T	ENST00000366475.1	+	1	602	c.602G>T	c.(601-603)cGt>cTt	p.R201L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTTCCGTGGATCCCGG	0.493000													25	172					2.98393e-07	4.107e-07	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47037035	47037035	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:47037035A>T	ENST00000450053.3	+	13	1989	c.1810A>T	c.(1810-1812)Acc>Tcc	p.T604S	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T604S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	604							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCCTGGCTTCACCTTTCATGC	0.627000													14	51					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068470	5068470	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:5068470C>A	ENST00000380370.1	+	1	715	c.715C>A	c.(715-717)Cta>Ata	p.L239I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTAAAAGCCCTAAGCACGTG	0.453000													30	116					2.61193e-14	4.37651e-14	1	1	0
ART1	417	broad.mit.edu	37	11	3680906	3680906	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:3680906T>C	ENST00000250693.1	+	3	258	c.157T>C	c.(157-159)Tgt>Cgt	p.C53R		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	53					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GTACGCTGGCTGTGCTGCTGC	0.592000													6	26					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066605	242066605	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:242066605C>A	ENST00000403638.3	-	10	1816	c.1725G>T	c.(1723-1725)cgG>cgT	p.R575R	PASK_ENST00000405260.1_Silent_p.R575R|PASK_ENST00000544142.1_Silent_p.R389R|PASK_ENST00000358649.4_Silent_p.R575R|PASK_ENST00000234040.4_Silent_p.R575R|PASK_ENST00000539818.1_Silent_p.R359R	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	575					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGACTCCCATCCGCTCTAGCT	0.637000													20	79					1.56452e-12	2.52847e-12	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2832090	2832090	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:2832090A>T	ENST00000520002.1	-	57	9181	c.8626T>A	c.(8626-8628)Ttt>Att	p.F2876I	CSMD1_ENST00000602723.1_Missense_Mutation_p.F2818I|CSMD1_ENST00000400186.3_Missense_Mutation_p.F2818I|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2875I|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2876I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F2817I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2876	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATAGGTAAACAGCTCTCCA	0.542000													5	15					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736302	140736302	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140736302G>T	ENST00000571252.1	+	1	1535	c.1535G>T	c.(1534-1536)gGg>gTg	p.G512V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATACAGGGATCCTATAT	0.527000													17	134					7.05477e-17	1.21877e-16	1	1	0
CCKBR	887	broad.mit.edu	37	11	6291102	6291102	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:6291102A>T	ENST00000525462.1	+	2	358	c.355A>T	c.(355-357)Aca>Tca	p.T119S	CCKBR_ENST00000334619.2_Missense_Mutation_p.T119S|CCKBR_ENST00000525014.1_Missense_Mutation_p.T119S|CCKBR_ENST00000532715.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	115					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCTCATGGGCACATTCATCTT	0.592000													6	42					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109514125	109514125	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:109514125C>A	ENST00000357672.3	-	14	2978	c.2603G>T	c.(2602-2604)tGg>tTg	p.W868L	WDR47_ENST00000369962.3_Missense_Mutation_p.W896L|WDR47_ENST00000369965.4_Missense_Mutation_p.W897L|WDR47_ENST00000361054.3_Missense_Mutation_p.W868L|WDR47_ENST00000400794.3_Missense_Mutation_p.W904L			O94967	WDR47_HUMAN	WD repeat domain 47	896										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTGGGTGTGCCATCTGCACTG	0.483000													12	64					2.27111e-07	3.13451e-07	1	1	0
PRF1	5551	broad.mit.edu	37	10	72360337	72360337	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:72360337T>C	ENST00000441259.1	-	2	482	c.322A>G	c.(322-324)Agg>Ggg	p.R108G	PRF1_ENST00000373209.2_Missense_Mutation_p.R108G	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	108	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACTTTGGCCCTGGTTACATGG	0.652000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				8	19					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586561	56586561	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:56586561C>T	ENST00000336078.4	+	4	1818	c.1042C>T	c.(1042-1044)Ccg>Tcg	p.P348S	ZNF532_ENST00000591808.1_Missense_Mutation_p.P348S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P348S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P348S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P348S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAAGGATCCCCGTCCTCTCC	0.502000													5	71					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779550	36779550	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:36779550C>A	ENST00000416516.2	-	2	1091	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	201						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTGGCTGTCACCCTTCCAC	0.572000													16	62					2.23348e-06	2.90643e-06	1	1	0
GNAT1	2779	broad.mit.edu	37	3	50231060	50231060	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:50231060G>T	ENST00000232461.3	+	4	527	c.413G>T	c.(412-414)cGc>cTc	p.R138L	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000433068.1_Missense_Mutation_p.R138L	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	138					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTTTTGAGCGCGCCTCGGAG	0.692000													7	29					0.000157383	0.000186404	1	1	0
SLC22A12	116085	broad.mit.edu	37	11	64368374	64368374	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:64368374T>A	ENST00000377574.1	+	9	2309	c.1562T>A	c.(1561-1563)tTg>tAg	p.L521*	SLC22A12_ENST00000377567.2_Nonsense_Mutation_p.L413*|SLC22A12_ENST00000473690.1_Nonsense_Mutation_p.L300*|SLC22A12_ENST00000377572.1_Nonsense_Mutation_p.L413*|SLC22A12_ENST00000336464.7_Nonsense_Mutation_p.L487*	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	521					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACCCAGAGCTTGCCGCTGCCC	0.662000													13	83					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79978180	79978180	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:79978180G>A	ENST00000373275.4	-	17	1973	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	586										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAAAATGGAGGAGGCATGAG	0.433000													11	94					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406265	148406265	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:148406265G>A	ENST00000538184.1	-	8	2452	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	SH3TC2_ENST00000515425.1_Missense_Mutation_p.P975S|SH3TC2_ENST00000512049.1_Missense_Mutation_p.P968S|SH3TC2_ENST00000394358.2_Silent_p.P895P			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	975							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGTTTGGGGACACAGAG	0.557000													12	109					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1994858	1994858	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:1994858C>T	ENST00000268661.7	-	10	1298	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	402					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCGAGGTCTCCGGCGTTTCC	0.602000													25	144					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183079768	183079768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:183079768G>T	ENST00000258341.4	+	4	1257	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	334	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAACTGCGGAAAGTGCCAG	0.478000													20	139					1.01871e-10	1.55129e-10	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28548678	28548678	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:28548678C>A	ENST00000401766.2	-	2	811	c.299G>T	c.(298-300)gGc>gTc	p.G100V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G100V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	100					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGACATTGCCCAGGTCCAC	0.572000													14	84					1.5739e-10	2.38946e-10	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41516530	41516530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr21:41516530G>T	ENST00000400454.1	-	17	3624	c.3147C>A	c.(3145-3147)taC>taA	p.Y1049*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1049	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTCCAGGGTGTAAACCTCAC	0.532000													14	63					3.27435e-08	4.64717e-08	1	1	0
SLC25A13	10165	broad.mit.edu	37	7	95750532	95750532	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:95750532T>A	ENST00000416240.2	-	18	2192	c.2002A>T	c.(2002-2004)Acc>Tcc	p.T668S	SLC25A13_ENST00000542654.1_Missense_Mutation_p.T559S|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000265631.5_Missense_Mutation_p.T667S	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	667					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCCTTTGAGGTAGATACTGAT	0.468000													10	59					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49513857	49513857	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:49513857C>T	ENST00000413176.2	+	9	1789	c.641C>T	c.(640-642)gCg>gTg	p.A214V	RUVBL2_ENST00000601968.1_Missense_Mutation_p.A214V|RUVBL2_ENST00000595090.1_Missense_Mutation_p.A259V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	259				D -> N (in Ref. 6; AAD34041).	cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGCTTCCTGGCGCTCTTCTCA	0.662000													3	48					0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48972291	48972291	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:48972291C>A	ENST00000156109.5	-	8	1172	c.1094G>T	c.(1093-1095)cGg>cTg	p.R365L		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	365						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTCCACAAACCGCACACGCAG	0.592000													3	29					0.004672	0.00504455	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97463258	97463258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:97463258C>T	ENST00000377075.2	+	3	1653	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	CNNM4_ENST00000540067.1_Nonsense_Mutation_p.R6*|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	519					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGACAACCGAAGCCGGAA	0.572000													8	64					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57109916	57109916	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:57109916G>C	ENST00000454682.1	-	3	5679	c.5398C>G	c.(5398-5400)Ctg>Gtg	p.L1800V	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.L647V|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAAGAGGCAGAGAGACTGGT	0.562000			T	BCL6	NHL								8	32					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512774	248512774	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248512774C>A	ENST00000317861.1	+	1	698	c.698C>A	c.(697-699)aCa>aAa	p.T233K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCAGACAGAACAAAGGCCTTT	0.527000													11	86					4.54149e-19	7.98345e-19	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129822296	129822296	+	Silent	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:129822296T>A	ENST00000422113.2	-	4	1508	c.1182A>T	c.(1180-1182)ccA>ccT	p.P394P		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	394						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGTGTGGCTGGCAGGTCAC	0.567000													51	119					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620126	7620126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:7620126G>A	ENST00000486284.1	+	8	1807	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	GRM7_ENST00000403881.1_Nonsense_Mutation_p.W511*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Nonsense_Mutation_p.W511*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	511					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACATGCAGTGGGGTAAAGGAG	0.443000													8	35					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66064345	66064345	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:66064345T>C	ENST00000349533.6	+	8	1037	c.852T>C	c.(850-852)gcT>gcC	p.A284A	LEPR_ENST00000344610.8_Silent_p.A284A|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.A284A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.A284A|LEPR_ENST00000371060.3_Silent_p.A284A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	284	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTAACAGGCTGACAAGATTG	0.393000													6	47					0	0	1	0	0
RBP7	116362	broad.mit.edu	37	1	10067718	10067718	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:10067718A>G	ENST00000294435.7	+	2	207	c.164A>G	c.(163-165)aAc>aGc	p.N55S		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	55						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATCCACACGAACAGCAGCCTA	0.378000													3	50					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1364038	1364038	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:1364038G>T	ENST00000355803.4	+	2	558	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W	UBE2I_ENST00000397515.2_Missense_Mutation_p.G3W|UBE2I_ENST00000402301.1_Missense_Mutation_p.G3W|UBE2I_ENST00000566587.1_Missense_Mutation_p.G3W|UBE2I_ENST00000325437.5_Missense_Mutation_p.G3W|UBE2I_ENST00000397514.3_Missense_Mutation_p.G3W|UBE2I_ENST00000403747.2_Missense_Mutation_p.G3W|UBE2I_ENST00000406620.1_Missense_Mutation_p.G3W	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	3					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GAACATGTCGGGGATCGCCCT	0.632000													11	71					1.5842e-08	2.2807e-08	1	1	0
MGEA5	10724	broad.mit.edu	37	10	103557905	103557905	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:103557905C>T	ENST00000361464.3	-	10	2211	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	MGEA5_ENST00000370094.3_Missense_Mutation_p.E606K|MGEA5_ENST00000439817.1_Missense_Mutation_p.E553K|MGEA5_ENST00000357797.5_Missense_Mutation_p.E553K|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	606	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GACCGCCATTCTTCAATCTAT	0.388000													5	54					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29819566	29819566	+	Silent	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:29819566C>G	ENST00000375398.2	-	13	2525	c.2076G>C	c.(2074-2076)ctG>ctC	p.L692L	SVIL_ENST00000355867.4_Silent_p.L692L|SVIL_ENST00000375400.3_Silent_p.L298L			O95425	SVIL_HUMAN	supervillin	692					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGCGACGCTCAGCTTGGCTC	0.463000													10	97					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133483248	133483248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:133483248C>A	ENST00000409261.1	-	19	6038	c.5665G>T	c.(5665-5667)Gga>Tga	p.G1889*	NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.G570*|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.G1889*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.G570*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1889							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTCCAGCTCCAAAACCATTA	0.522000													4	19					0.150653	0.153409	1	1	0
SLC2A12	154091	broad.mit.edu	37	6	134312437	134312437	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:134312437C>T	ENST00000275230.5	-	5	1865	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	570						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368000													6	44					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629148	42629148	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr21:42629148C>T	ENST00000330333.6	+	8	1661	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Intron|BACE2_ENST00000347667.4_Missense_Mutation_p.P350S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	400					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CGGCATTTCCCCATCCACAAA	0.542000													6	50					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45632413	45632413	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:45632413G>T	ENST00000297323.7	+	2	717	c.695G>T	c.(694-696)cGg>cTg	p.R232L	ADCY1_ENST00000432715.1_Missense_Mutation_p.R7L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	232					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTCTTTGTGCGGATTCTGACT	0.572000													9	103					0.307466	0.309318	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577000													3	40					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32061178	32061178	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:32061178A>G	ENST00000438447.1	+	14	2777	c.2389A>G	c.(2389-2391)Atc>Gtc	p.I797V	PDZD2_ENST00000282493.3_Missense_Mutation_p.I797V			O15018	PDZD2_HUMAN	PDZ domain containing 2	797	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTCCACGCCATCTTGAGTAA	0.557000													14	40					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995518	140995518	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:140995518G>A	ENST00000285879.4	+	4	2614	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	776							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGAGACCTGTCA	0.557000										HNSCC(15;0.026)			23	246					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186947650	186947650	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:186947650C>T	ENST00000337774.5	-	11	1728	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	447					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAGATCCTGGCCATCAGCTTC	0.602000													7	42					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845650	152845650	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:152845650T>C	ENST00000263519.4	+	20	3683	c.3557T>C	c.(3556-3558)aTa>aCa	p.I1186T	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.I1186T|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1186					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAACGCCATAGACAGCGGC	0.632000													35	82					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140960384	140960384	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140960384C>A	ENST00000253811.6	-	8	891	c.751G>T	c.(751-753)Gct>Tct	p.A251S	DIAPH1_ENST00000518047.1_Missense_Mutation_p.A242S|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A251S|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A242S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A251S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A197S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A242S|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A242S			O60610	DIAP1_HUMAN	diaphanous-related formin 1	251	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAACAGCAGGATCCATG	0.448000													8	65					0.00307968	0.00335417	1	1	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122518	32122518	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:32122518G>T	ENST00000422437.1	+	2	338	c.147G>T	c.(145-147)tcG>tcT	p.S49S	PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Silent_p.S55S|PPT2_ENST00000445576.2_Silent_p.S49S|PPT2_ENST00000375143.2_Silent_p.S49S|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000395523.1_Silent_p.S49S|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Silent_p.S49S|PPT2_ENST00000324816.6_Silent_p.S49S																							TCGACAGCTCGTACAGCTTCC	0.637000													7	48					0.248553	0.251058	1	1	0
TRIM29	23650	broad.mit.edu	37	11	120008273	120008273	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:120008273G>A	ENST00000341846.5	-	1	888	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	156					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCCGTGTCGGCCCGGGGGTA	0.642000													7	96					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14346239	14346239	+	Silent	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:14346239A>T	ENST00000571589.1	+	15	2755	c.2583A>T	c.(2581-2583)ccA>ccT	p.P861P	MKL2_ENST00000318282.5_Silent_p.P811P|MKL2_ENST00000341243.5_Silent_p.P850P|MKL2_ENST00000574045.1_Silent_p.P811P	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	850					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCCCCGCCACCCCAGCAAT	0.532000													27	99					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730971	21730971	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:21730971G>T	ENST00000584755.1	+	2	670	c.273G>T	c.(271-273)ctG>ctT	p.L91L	UBBP4_ENST00000578713.1_Silent_p.L91L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCATCACCCTGGAAGTGGAGC	0.547000													22	65					3.8784e-16	6.65438e-16	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643261	1643261	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:1643261A>C	ENST00000399682.1	-	1	107	c.63T>G	c.(61-63)tgT>tgG	p.C21W		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	21						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcccccacagccggagc	0.687000													4	70					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426463	116426463	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:116426463C>T	ENST00000395715.3	-	7	4250	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1216K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1212K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E966K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1212	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTGAAAGTTCATCTTGAGTA	0.418000									Langer-Giedion syndrome				8	74					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160099323	160099323	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:160099323T>A	ENST00000326448.7	-	3	659	c.227A>T	c.(226-228)cAg>cTg	p.Q76L	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	76						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCTTTCTGCCTGGGTTTGTTT	0.323000													3	38					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92590378	92590378	+	Splice_Site	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:92590378A>T	ENST00000298047.6	+	19	11382		c.e19-1		FAT3_ENST00000409404.2_Splice_Site|FAT3_ENST00000533797.1_Splice_Site|FAT3_ENST00000525166.1_Splice_Site			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3						homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGTCACAGGAGGACTGT	0.512000										TCGA Ovarian(4;0.039)			11	59					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890120	20890120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:20890120G>T	ENST00000381552.1	+	11	1830	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	SLCO1C1_ENST00000545604.1_Nonsense_Mutation_p.E488*|SLCO1C1_ENST00000266509.2_Nonsense_Mutation_p.E488*|SLCO1C1_ENST00000545102.1_Nonsense_Mutation_p.E370*|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.E439*			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	488	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GACAAAATGGGAACCCATGTG	0.378000													10	37					0.0692343	0.0718145	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182427	140182427	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140182427G>T	ENST00000522353.2	+	1	1645	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V549L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCAACGTGACGCTGCA	0.677000													11	111					0.00136819	0.00151652	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731524	21731524	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:21731524A>G	ENST00000578713.1	+	2	603	c.599A>G	c.(598-600)aAg>aGg	p.K200R	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TTTGCAGGCAAGAAGTTGGAA	0.542000													13	44					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86352027	86352027	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:86352027G>T	ENST00000285381.2	+	2	204	c.121G>T	c.(121-123)Gac>Tac	p.D41Y		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	41					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CATCAGGCATGACCCTTCTCT	0.478000													22	45					1.2644e-06	1.68475e-06	1	1	0
C3orf67	200844	broad.mit.edu	37	3	58853584	58853584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:58853584C>A	ENST00000472469.1	-	9	1278	c.440G>T	c.(439-441)cGg>cTg	p.R147L	RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R240L|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.R240L			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	240										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTTTTAACCGTAATCTTCT	0.393000													12	82					0.00010058	0.000120552	1	1	0
USP9X	8239	broad.mit.edu	37	X	41029419	41029419	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:41029419G>T	ENST00000324545.7	+	19	3441	c.2808G>T	c.(2806-2808)gtG>gtT	p.V936V	USP9X_ENST00000378308.2_Silent_p.V936V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	936					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCTCTTTGTGGGCGGTGAGC	0.353000													13	59					0.00010058	0.000120552	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147210	26147210	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:26147210C>G	ENST00000331351.5	+	2	1404	c.1012C>G	c.(1012-1014)Ctg>Gtg	p.L338V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	338					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GATCTATGCGCTGCATCTGGA	0.557000													23	152					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35561464	35561464	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:35561464G>T	ENST00000373330.1	+	4	315	c.141G>T	c.(139-141)ctG>ctT	p.L47L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.L47L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	47						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAATGAACTGAAAATAAATG	0.284000													13	58					1.45105e-14	2.43952e-14	1	1	0
CEP112	201134	broad.mit.edu	37	17	63637115	63637115	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:63637115T>A	ENST00000392769.2	-	25	2984	c.2766A>T	c.(2764-2766)gaA>gaT	p.E922D	CTD-2535L24.2_ENST00000577662.1_Missense_Mutation_p.T13S|CEP112_ENST00000317442.8_Missense_Mutation_p.E178D|CEP112_ENST00000537949.1_Missense_Mutation_p.E880D|CEP112_ENST00000535342.2_Missense_Mutation_p.E922D|CEP112_ENST00000541355.1_Missense_Mutation_p.E486D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	922						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTCTTCAAGTTCTTGTCTTA	0.323000													16	58					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31341772	31341772	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:31341772G>A	ENST00000357033.4	-	62	9373	c.9167C>T	c.(9166-9168)tCt>tTt	p.S3056F	DMD_ENST00000541735.1_Missense_Mutation_p.S596F|DMD_ENST00000378707.3_Missense_Mutation_p.S596F|DMD_ENST00000378677.2_Missense_Mutation_p.S3052F|DMD_ENST00000359836.1_Missense_Mutation_p.S596F|DMD_ENST00000474231.1_Missense_Mutation_p.S596F|DMD_ENST00000343523.2_Missense_Mutation_p.S596F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3056	WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCCTGGACAGACGCTGAAAA	0.398000													5	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209116292	209116292	+	Splice_Site	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:209116292C>A	ENST00000415913.1	-	3	366		c.e3-1		IDH1_ENST00000446179.1_Splice_Site|IDH1_ENST00000345146.2_Splice_Site			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble						2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TTCAATAAACCTAAAAAGAAA	0.299000			Mis		gliobastoma								9	24					1.58986e-06	2.09611e-06	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110766120	110766120	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:110766120A>T	ENST00000369787.3	+	2	1240	c.1213A>T	c.(1213-1215)Att>Ttt	p.I405F	KCNC4_ENST00000438661.2_Missense_Mutation_p.I405F|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.I405F	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	405					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTGAGCGCATTGGGGCCAG	0.587000													17	96					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577367	92577367	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:92577367G>A	ENST00000298047.6	+	18	10851	c.10834G>A	c.(10834-10836)Gac>Aac	p.D3612N	FAT3_ENST00000409404.2_Missense_Mutation_p.D3612N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3462N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3612	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGGCCTGGACAGCGGCAA	0.493000										TCGA Ovarian(4;0.039)			37	152					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089821	113089821	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:113089821G>T	ENST00000409871.1	+	12	3727	c.3326G>T	c.(3325-3327)gGg>gTg	p.G1109V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1109V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1109							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACTCTTGAGGGGCCAGCTGAC	0.512000													5	40					0.000602214	0.0006826	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122130324	122130324	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:122130324C>A	ENST00000334010.7	-	11	2084	c.1663G>T	c.(1663-1665)Ggt>Tgt	p.G555C	CADPS2_ENST00000313070.7_Missense_Mutation_p.G555C|CADPS2_ENST00000449022.2_Missense_Mutation_p.G555C|CADPS2_ENST00000412584.2_Missense_Mutation_p.G555C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	555	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACATACAACCACCCTGAAGG	0.383000													6	65					0.00116845	0.00129798	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51923237	51923237	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:51923237C>A	ENST00000371117.3	-	16	1671	c.1396G>T	c.(1396-1398)Ggg>Tgg	p.G466W	PKHD1_ENST00000340994.4_Missense_Mutation_p.G466W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	466					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCTCATCCCCCTGCTTGGG	0.562000													19	107					1.56452e-12	2.52847e-12	1	1	0
FMNL2	114793	broad.mit.edu	37	2	153463899	153463899	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:153463899G>T	ENST00000288670.9	+	10	1290	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	308	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAACATTTCAGGAATGAAGAC	0.318000													7	13					5.18039e-06	6.60401e-06	1	1	0
MYO1D	4642	broad.mit.edu	37	17	30986280	30986280	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:30986280C>T	ENST00000318217.5	-	17	2502	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYO1D_ENST00000579584.1_Missense_Mutation_p.R733H|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.R645H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	733	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACTTTGTAGCGCCGGTAGTA	0.552000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	123					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686235	125686235	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:125686235C>A	ENST00000371126.1	-	1	599	c.357G>T	c.(355-357)acG>acT	p.T119T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	119										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACGAAAAGCGTGTTACACT	0.637000													4	54					0.00909568	0.00969561	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23927417	23927417	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:23927417T>C	ENST00000402377.3	-	4	1076	c.935A>G	c.(934-936)tAt>tGt	p.Y312C	ZNF681_ENST00000395385.3_Missense_Mutation_p.Y243C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCCTTATATTCATTGAG	0.378000													12	69					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10234000	10234000	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:10234000T>A	ENST00000315330.4	-	3	289	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y43F|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	76					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGAGAGCTGGTAGTACTGAAA	0.368000													10	48					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106053916	106053916	+	RNA	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:106053916T>A	ENST00000390539.2	-	0	602																											TGGCGGTTAGTGGGGTCTTCA	0.617000													3	31					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132860	153132860	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:153132860G>T	ENST00000370060.1	-	17	2277	c.2088C>A	c.(2086-2088)ggC>ggA	p.G696G	L1CAM_ENST00000543994.1_Silent_p.G698G|L1CAM_ENST00000538883.1_Silent_p.G698G|L1CAM_ENST00000361699.4_Silent_p.G696G|L1CAM_ENST00000370057.3_Silent_p.G696G|L1CAM_ENST00000361981.3_Silent_p.G691G|L1CAM_ENST00000370055.1_Silent_p.G691G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	696	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCCCGGGGCCATATTTGT	0.602000													14	134					1.41608e-15	2.41311e-15	1	1	0
CACNB2	783	broad.mit.edu	37	10	18803260	18803260	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:18803260C>A	ENST00000396576.2	+	6	1102	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.P228T|CACNB2_ENST00000377329.4_Missense_Mutation_p.P202T|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.P208T|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.P256T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	256					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTAACGTCACCCCACTCCAA	0.443000													16	67					2.23348e-06	2.90643e-06	1	1	0
CLRN1	7401	broad.mit.edu	37	3	150659443	150659443	+	Missense_Mutation	SNP	A	A	G	rs121908141		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:150659443A>G	ENST00000327047.1	-	2	649	c.359T>C	c.(358-360)aTg>aCg	p.M120T	RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.C30R|CLRN1_ENST00000295911.2_Missense_Mutation_p.M44T|CLRN1_ENST00000328863.4_Missense_Mutation_p.M120T|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	120			M -> K (in USH3).		equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCATTGTACATGAAGAAGGC	0.438000													7	26					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525963	84525963	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:84525963A>T	ENST00000360700.4	+	10	2439	c.1553A>T	c.(1552-1554)gAg>gTg	p.E518V	ZNF711_ENST00000542798.1_Missense_Mutation_p.E314V|ZNF711_ENST00000395402.1_Missense_Mutation_p.E480V|ZNF711_ENST00000276123.3_Missense_Mutation_p.E472V|ZNF711_ENST00000373165.3_Missense_Mutation_p.E472V			Q9Y462	ZN711_HUMAN	zinc finger protein 711	472					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAGACAAGGAGCCGAAGATG	0.393000													4	42					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382864	22382864	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:22382864A>T	ENST00000328795.4	+	1	483	c.392A>T	c.(391-393)cAc>cTc	p.H131L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGGCCTCTGCACTGTTCAACT	0.522000													23	193					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235690	127235690	+	Silent	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:127235690G>C	ENST00000265825.5	+	2	693	c.474G>C	c.(472-474)cgG>cgC	p.R158R	FSCN3_ENST00000420086.2_Silent_p.R24R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	158						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCTATGCCCGGGCTGACCCCA	0.622000													14	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491663	128491663	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:128491663C>A	ENST00000325888.8	+	35	6084	c.5823C>A	c.(5821-5823)ccC>ccA	p.P1941P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.P1908P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1941					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGGAGCCCCTTCACAGCCA	0.587000													11	54					0.0931896	0.0964627	1	1	0
DPP8	54878	broad.mit.edu	37	15	65777489	65777489	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:65777489T>C	ENST00000341861.5	-	8	2593	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S	DPP8_ENST00000300141.6_Missense_Mutation_p.N322S|DPP8_ENST00000339244.5_Missense_Mutation_p.N338S|DPP8_ENST00000321147.6_Missense_Mutation_p.N338S|DPP8_ENST00000321118.7_Missense_Mutation_p.N338S|DPP8_ENST00000358939.4_Missense_Mutation_p.N322S|DPP8_ENST00000559233.1_Missense_Mutation_p.N338S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	338					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACTTTAGGATTTGCTGTACC	0.313000													7	34					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634506	32634506	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:32634506C>A	ENST00000242310.4	-	1	1161	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	358					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCCACTCAGCCACTCTTGGT	0.473000													20	113					1.01871e-10	1.55129e-10	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75266183	75266183	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:75266183G>T	ENST00000325680.7	+	5	4307	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1200Y|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGACAGAATGGACTGGGAAAG	0.483000													14	161					1.49906e-05	1.88228e-05	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996536	140996536	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:140996536G>A	ENST00000285879.4	+	4	3632	c.3346G>A	c.(3346-3348)Gcc>Acc	p.A1116T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.A183T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1116							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGCCCAGGCCATAATTGA	0.463000										HNSCC(15;0.026)			15	117					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19153558	19153558	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:19153558A>T	ENST00000269932.6	+	0	443				ARMC6_ENST00000535612.1_Missense_Mutation_p.Q23L|ARMC6_ENST00000392335.2_De_novo_Start_OutOfFrame|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q23L			Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6								protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACATCAACACAGGCGAAGATG	0.577000													8	36					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110830888	110830888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:110830888G>T	ENST00000485303.1	+	2	447	c.172G>T	c.(172-174)Gga>Tga	p.G58*	PVRL3_ENST00000493615.1_Nonsense_Mutation_p.G35*|PVRL3_ENST00000319792.3_Nonsense_Mutation_p.G58*|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	58					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCCTTAGCTGGACCAATTAT	0.373000													3	44					6.4e-05	7.74663e-05	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865301	118865301	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:118865301C>A	ENST00000295622.1	+	1	305	c.265C>A	c.(265-267)Cgc>Agc	p.R89S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	89										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TCAGGCTGGCCGCAGAGCATC	0.502000													10	21					9.70103e-10	1.43793e-09	1	1	0
GRM3	2913	broad.mit.edu	37	7	86468505	86468505	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:86468505C>A	ENST00000361669.2	+	4	2774	c.1675C>A	c.(1675-1677)Cta>Ata	p.L559I	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.L151I|GRM3_ENST00000536043.1_Missense_Mutation_p.L431I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	559					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CACTGCAGACCTAACTGGATG	0.527000													18	76					1.02788e-11	1.61433e-11	1	1	0
SPRR2G	6706	broad.mit.edu	37	1	153122526	153122526	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:153122526G>T	ENST00000368748.4	-	2	99	c.61C>A	c.(61-63)Cca>Aca	p.P21T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	21	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACTTTGGCGTGGGGCAC	0.572000													11	91					1.58986e-06	2.09611e-06	1	1	0
RBP4	5950	broad.mit.edu	37	10	95353737	95353737	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:95353737G>T	ENST00000371467.1	-	5	730	c.411C>A	c.(409-411)tcC>tcA	p.S137S	RBP4_ENST00000371469.2_Silent_p.S135S|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.S137S			P02753	RET4_HUMAN	retinol binding protein 4, plasma	137					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	GGAGGCGGCAGGAGTACTGCA	0.567000													19	49					2.94398e-08	4.20209e-08	1	1	0
NLN	57486	broad.mit.edu	37	5	65081650	65081650	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:65081650G>T	ENST00000380985.5	+	7	1049	c.871G>T	c.(871-873)Gcc>Tcc	p.A291S	NLN_ENST00000502464.1_Missense_Mutation_p.A187S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	291					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACCAAGGTGGCCAAACTACT	0.408000													8	45					0.000157383	0.000186404	1	1	0
CELF3	11189	broad.mit.edu	37	1	151681768	151681768	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:151681768G>T	ENST00000290583.4	-	4	1127	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	CELF3_ENST00000290585.4_Silent_p.R112R|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	112	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AACATCTTCCGGACGTCCTCA	0.612000													27	171					2.79863e-10	4.22324e-10	1	1	0
PTPRG	5793	broad.mit.edu	37	3	62253428	62253428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:62253428G>A	ENST00000474889.1	+	19	3185	c.2808G>A	c.(2806-2808)tgG>tgA	p.W936*	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.W907*|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	936	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAGATTTCTGGAGGATGATTT	0.388000													10	82					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564593	5564593	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:5564593C>A	ENST00000310917.2	-	22	4400	c.3669G>T	c.(3667-3669)agG>agT	p.R1223S	EVC2_ENST00000344408.5_Missense_Mutation_p.R1303S|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1303						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCCCAAGGCCCTCATGGCCT	0.478000													15	76					3.27435e-08	4.64717e-08	1	1	0
XRN1	54464	broad.mit.edu	37	3	142116293	142116293	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:142116293C>A	ENST00000264951.4	-	20	2334	c.2217G>T	c.(2215-2217)ttG>ttT	p.L739F	XRN1_ENST00000392981.2_Missense_Mutation_p.L739F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	739					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAGGTTCTTCCAAGTAAAACC	0.338000													5	20					0.000602214	0.0006826	1	1	0
MGEA5	10724	broad.mit.edu	37	10	103560038	103560038	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:103560038C>T	ENST00000361464.3	-	8	1551	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	MGEA5_ENST00000370094.3_Missense_Mutation_p.E386K|MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000357797.5_Intron	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	386					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGCAACCATTCTGTTAATGCT	0.388000													7	115					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89291943	89291943	+	RNA	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:89291943C>A	ENST00000495489.1	-	0	382																											AACTATAATACTGTTGACAGT	0.512000													19	116					1.01871e-10	1.55129e-10	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167126	140167126	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:140167126C>A	ENST00000504120.2	+	1	1251	c.1251C>A	c.(1249-1251)agC>agA	p.S417R	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S417R|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S417R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGCGAGAGCCTGTCGGTCT	0.622000													36	110					6.70999e-13	1.09502e-12	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175565035	175565035	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:175565035G>C	ENST00000274093.3	-	10	1799	c.1297C>G	c.(1297-1299)Cga>Gga	p.R433G	GLRA3_ENST00000340217.5_Missense_Mutation_p.R418G	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	433					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R433R(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAGCAGGCTCGGGAGATGGTA	0.418000													6	86					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503739	105503739	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:105503739G>A	ENST00000276654.5	-	7	1850	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	LRP12_ENST00000424843.2_Missense_Mutation_p.A562V|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	581					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGATCGTACCGCTAGCCTCAG	0.358000													9	37					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800119	152800119	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:152800119G>T	ENST00000335123.2	+	1	171	c.171G>T	c.(169-171)ggG>ggT	p.G57G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	57	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCTCTGGGGGCGGCTGCA	0.672000													10	72					1.58986e-06	2.09611e-06	1	1	0
MACROD2	140733	broad.mit.edu	37	20	15918139	15918139	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr20:15918139C>G	ENST00000217246.4	+	12	1252	c.857C>G	c.(856-858)aCt>aGt	p.T286S	MACROD2_ENST00000310348.4_Missense_Mutation_p.T286S|MACROD2_ENST00000378058.3_Missense_Mutation_p.T51S|MACROD2_ENST00000402914.1_Missense_Mutation_p.T51S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	286	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AACACTGTCACTGTGCCCGGC	0.468000													5	75					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944938	55944938	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:55944938G>T	ENST00000373965.2	-	13	1811	c.1417C>A	c.(1417-1419)Ctt>Att	p.L473I	PCDH15_ENST00000320301.6_Missense_Mutation_p.L466I|PCDH15_ENST00000361849.3_Missense_Mutation_p.L466I|PCDH15_ENST00000395446.1_Missense_Mutation_p.L466I|PCDH15_ENST00000409834.1_Missense_Mutation_p.L77I|PCDH15_ENST00000395433.1_Missense_Mutation_p.L444I|PCDH15_ENST00000373957.3_Missense_Mutation_p.L444I|PCDH15_ENST00000395432.2_Missense_Mutation_p.L429I|PCDH15_ENST00000373955.1_Missense_Mutation_p.L466I|PCDH15_ENST00000395445.1_Missense_Mutation_p.L473I|PCDH15_ENST00000414778.1_Missense_Mutation_p.L471I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L466I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L466I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L466I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	466	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGGTTGAAGTAAGGTGAGG	0.388000										HNSCC(58;0.16)			9	53					1.12685e-05	1.42205e-05	1	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178552041	178552041	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:178552041G>T	ENST00000251582.7	-	19	2992	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	964	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P964H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGCTCTCGGGCCGGGCGTC	0.706000													9	69					0.000442599	0.00051568	1	1	0
ZNF518A	9849	broad.mit.edu	37	10	97916755	97916755	+	RNA	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:97916755A>T	ENST00000534948.1	+	0	1533							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTTCAGCACATTCATAGACA	0.358000													28	117					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285671	223285671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:223285671C>A	ENST00000540964.1	-	4	1164	c.703G>T	c.(703-705)Gga>Tga	p.G235*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.G235*			O60602	TLR5_HUMAN	toll-like receptor 5	235					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAGCCATTTCCAGAAACATCT	0.478000													16	75					6.72482e-11	1.03986e-10	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368831	18368831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:18368831C>T	ENST00000392413.3	-	4	3478	c.3263G>A	c.(3262-3264)tGg>tAg	p.W1088*	KIAA1683_ENST00000600328.2_Nonsense_Mutation_p.W901*|KIAA1683_ENST00000600359.2_Nonsense_Mutation_p.W855*	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1099						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGTTGCGCCAGGTGTCCCA	0.657000													23	67					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39321547	39321547	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:39321547G>A	ENST00000373001.3	-	3	650	c.474C>T	c.(472-474)caC>caT	p.H158H		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	158					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAACAGTAATGTGAAGTCTTG	0.323000													14	50					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89871932	89871932	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:89871932G>A	ENST00000275072.4	+	7	1356	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	421							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AATCAGAGAGGACTTTAAACT	0.398000													3	46					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581914	118581914	+	Splice_Site	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:118581914C>A	ENST00000336338.5	-	23	3385		c.e23+1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGCAGCTTACCCGTTTCAAG	0.373000													10	52					0.000442599	0.00051568	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813405	248813405	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248813405G>T	ENST00000344889.3	-	1	780	c.781C>A	c.(781-783)Ctg>Atg	p.L261M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATGAGGCAGCACGTATGTG	0.537000													3	25					0.000602214	0.0006826	1	1	0
TBC1D21	161514	broad.mit.edu	37	15	74177417	74177417	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:74177417G>T	ENST00000300504.2	+	6	635	c.552G>T	c.(550-552)tgG>tgT	p.W184C	TBC1D21_ENST00000535547.2_Missense_Mutation_p.W148C|TBC1D21_ENST00000562056.1_Missense_Mutation_p.W147C	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGACCTTCTGGCTTTTCCAGT	0.577000													12	53					1.08611e-07	1.50731e-07	1	1	0
DTNBP1	84062	broad.mit.edu	37	6	15523328	15523328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:15523328C>A	ENST00000344537.5	-	10	1106	c.934G>T	c.(934-936)Gag>Tag	p.E312*	DTNBP1_ENST00000462989.2_Nonsense_Mutation_p.E156*|DTNBP1_ENST00000355917.3_Nonsense_Mutation_p.E313*	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	312	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCCCACCCTCACTGATGTCC	0.577000									Hermansky-Pudlak syndrome				20	87					1.36565e-18	2.38393e-18	1	1	0
STAT4	6775	broad.mit.edu	37	2	191927646	191927646	+	Splice_Site	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:191927646G>C	ENST00000392320.2	-	9	1097	c.782_splice	c.e9-1	p.C261_splice	STAT4_ENST00000358470.4_Splice_Site_p.C261_splice	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	261					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ATAGTGTAAAGCTATTGAACA	0.308000													4	23					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42051439	42051439	+	Silent	SNP	C	C	T	rs145726400		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:42051439C>T	ENST00000264451.6	+	9	963	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	261					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATTTATACCGGTTCAGCAA	0.313000													7	38					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137542264	137542264	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:137542264T>C	ENST00000394886.2	-	3	374	c.344A>G	c.(343-345)tAt>tGt	p.Y115C	CDC23_ENST00000394884.3_Missense_Mutation_p.Y115C|CDC23_ENST00000505120.1_Missense_Mutation_p.I114V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATACAGAAAATAGGCTTTCTT	0.403000													14	71					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388600	1388600	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:1388600C>G	ENST00000324803.4	+	1	3261	c.301C>G	c.(301-303)Ccc>Gcc	p.P101A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	101					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACACGTGCCCATGTGGAG	0.652000													39	392					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56585795	56585795	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:56585795G>T	ENST00000336078.4	+	4	1052	c.276G>T	c.(274-276)ggG>ggT	p.G92G	ZNF532_ENST00000591808.1_Silent_p.G92G|ZNF532_ENST00000591083.1_Silent_p.G92G|ZNF532_ENST00000591230.1_Silent_p.G92G|ZNF532_ENST00000589288.1_Silent_p.G92G	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TACATAATGGGTTTCTCACAG	0.502000													7	31					5.18039e-06	6.60401e-06	1	1	0
C8orf34	116328	broad.mit.edu	37	8	69351821	69351821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:69351821G>T	ENST00000337103.4	+	1	1674	c.82G>T	c.(82-84)Gga>Tga	p.G28*	C8orf34_ENST00000518698.1_Nonsense_Mutation_p.G139*|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Nonsense_Mutation_p.G53*|C8orf34_ENST00000523686.1_Nonsense_Mutation_p.G53*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.G53*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	53					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGGAACCGTGGACAACTTCA	0.398000													14	60					0.00244969	0.00267969	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770550	31770550	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:31770550T>A	ENST00000240587.4	-	2	476	c.149A>T	c.(148-150)aAg>aTg	p.K50M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	50					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGAGCTCCTTCTCCGGGCA	0.597000													8	29					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129284753	129284753	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:129284753C>T	ENST00000393239.1	-	24	4477	c.4299G>A	c.(4297-4299)caG>caA	p.Q1433Q	PLXND1_ENST00000324093.4_Silent_p.Q1433Q			Q9Y4D7	PLXD1_HUMAN	plexin D1	1433					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAAAGTCCTTCTGCTGCTCCA	0.577000													4	25					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038302	139038302	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:139038302C>A	ENST00000370540.1	-	3	862	c.839G>T	c.(838-840)aGg>aTg	p.R280M		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	280						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GACCAAAGGCCTATAAGTTTT	0.403000													32	111					3.80469e-20	6.73552e-20	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668250	176668250	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:176668250G>T	ENST00000367662.3	+	8	3925	c.2761G>T	c.(2761-2763)Gat>Tat	p.D921Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	921					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCTGATGTGGATCAGCCCTG	0.542000													19	99					5.35267e-07	7.20883e-07	1	1	0
FMO1	2326	broad.mit.edu	37	1	171254425	171254425	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:171254425C>A	ENST00000354841.4	+	8	1472	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	FMO1_ENST00000402921.2_Silent_p.P384P|FMO1_ENST00000367750.3_Silent_p.P447P|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	447					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCAAAACCCAACCTGTTCT	0.443000													15	88					4.7546e-09	6.90451e-09	1	1	0
GLP1R	2740	broad.mit.edu	37	6	39040750	39040750	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:39040750G>A	ENST00000373256.4	+	6	665	c.622G>A	c.(622-624)Gcc>Acc	p.A208T		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	208					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GTATAGCACAGCCGCCCAGCA	0.597000													17	54					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043298	20043298	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:20043298G>A	ENST00000570682.1	-	2	1121	c.821C>T	c.(820-822)gCc>gTc	p.A274V		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTTCAGAAGGGCTAGCATGTT	0.557000													17	68					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703930	48703930	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:48703930A>T	ENST00000352832.5	+	34	6943	c.6571A>T	c.(6571-6573)Agc>Tgc	p.S2191C	CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2284C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2255C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2239C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S2135C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2273C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2218C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2307C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2180C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2207C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2228C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2214C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2173C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2200C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2262C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S2146C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2202C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S2112C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2191C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2225C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2247C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2184C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2232C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2168C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2318C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2318					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCCCCGAGAGCCAAGGTCC	0.667000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	18					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49046819	49046819	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:49046819A>T	ENST00000226432.4	+	14	2003	c.1820A>T	c.(1819-1821)gAt>gTt	p.D607V	CWH43_ENST00000513409.1_Missense_Mutation_p.D580V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	607	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GACAGCACTGATCATGACAGA	0.373000													11	64					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33938651	33938651	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:33938651C>T	ENST00000389232.4	+	29	3935	c.3865C>T	c.(3865-3867)Cgc>Tgc	p.R1289C	RYR3_ENST00000415757.3_Missense_Mutation_p.R1289C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1289	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCTATTGCCGCTTGAGCAT	0.542000													22	121					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190373	66190373	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:66190373G>A	ENST00000311034.2	+	4	835	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	220	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTCCAGAGCCGCCATGCTAAA	0.602000													3	40					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795782	99795782	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:99795782A>G	ENST00000426455.1	+	12	1644	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	STAG3_ENST00000394018.2_Missense_Mutation_p.I355V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.I413V			Q9UJ98	STAG3_HUMAN	stromal antigen 3	413					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGATACTTATCCTTAAGTG	0.502000													7	72					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44097389	44097389	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:44097389G>A	ENST00000494774.1	+	6	504	c.483G>A	c.(481-483)gtG>gtA	p.V161V	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.V112V|DBNL_ENST00000490734.2_Silent_p.V66V|DBNL_ENST00000448521.1_Silent_p.V161V|DBNL_ENST00000440166.1_Silent_p.V58V|DBNL_ENST00000468694.1_Silent_p.V161V|DBNL_ENST00000452943.1_Silent_p.V136V	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	161					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGGCTCTGTGTACCAGAAGA	0.567000													4	57					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8113641	8113641	+	Missense_Mutation	SNP	G	G	T	rs141276757	byFrequency	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:8113641G>T	ENST00000332175.8	+	12	3051	c.2014G>T	c.(2014-2016)Gct>Tct	p.A672S	PTPRM_ENST00000580170.1_Missense_Mutation_p.A672S|PTPRM_ENST00000400053.4_Missense_Mutation_p.A610S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A459S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A672S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	672					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGCCTCCAAGCTGCGCAGCC	0.428000													30	87					1.06801e-11	1.67211e-11	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780319	37780319	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:37780319G>T	ENST00000447769.1	+	4	613	c.324G>T	c.(322-324)gtG>gtT	p.V108V	GPR141_ENST00000334425.1_Silent_p.V108V|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	108						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTATGTGGTGATCCTGGTCA	0.483000													24	79					1.36565e-18	2.38393e-18	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904626	129904626	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:129904626G>A	ENST00000368654.3	-	13	5853	c.5478C>T	c.(5476-5478)gcC>gcT	p.A1826A	MKI67_ENST00000368653.3_Silent_p.A1466A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1826	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTAGAGCCTGGGCCTTTTCCT	0.463000													21	177					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68026388	68026388	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:68026388G>A	ENST00000329153.5	+	5	535	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	135						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAAGGAATGGGTGACACTCAA	0.532000													3	4					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747239	158747239	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:158747239C>A	ENST00000339258.1	-	1	186	c.187G>T	c.(187-189)Gtc>Ttc	p.V63F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGAACACTGACAAAGTGGTAC	0.443000													17	127					9.16793e-09	1.32367e-08	1	1	0
KCTD15	79047	broad.mit.edu	37	19	34302442	34302442	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:34302442G>T	ENST00000284006.5	+	6	930	c.678G>T	c.(676-678)cgG>cgT	p.R226R	KCTD15_ENST00000589786.1_Silent_p.R226R|KCTD15_ENST00000430256.2_Silent_p.R226R|KCTD15_ENST00000588881.1_Silent_p.R226R	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	226						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GCTACTGCCGGCTCAACTCGG	0.697000													5	31					0.000602214	0.0006826	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120007834	120007834	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:120007834G>A	ENST00000371311.3	-	2	1070	c.816C>T	c.(814-816)gcC>gcT	p.A272A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	272										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CAGCATCTTGGGCCTCTTCAT	0.448000													45	453					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562937	11562937	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:11562937G>T	ENST00000294484.6	+	3	1437	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCCATGCTGGCCAAGCAGT	0.512000													9	25					3.09899e-07	4.219e-07	1	1	0
CPA2	1358	broad.mit.edu	37	7	129919353	129919353	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:129919353G>A	ENST00000222481.4	+	9	893	c.838G>A	c.(838-840)Gcc>Acc	p.A280T		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	280					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGGACCCAGTGCCAACTCTGA	0.507000													5	59					0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850306	37850306	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:37850306G>T	ENST00000341016.3	+	1	237	c.214G>T	c.(214-216)Gcc>Tcc	p.A72S	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	72							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGGCTTGGAGGCCAGCAACAA	0.522000													6	52					2.7689e-08	3.96348e-08	1	1	0
CUL7	9820	broad.mit.edu	37	6	43013735	43013735	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:43013735C>T	ENST00000535468.1	-	13	3093	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Missense_Mutation_p.E919K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	919					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GAGTTGAGTTCCGTGTGAAGA	0.557000													6	36					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399835	46399835	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:46399835G>T	ENST00000292301.4	+	2	1302	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C	CCR2_ENST00000445132.2_Missense_Mutation_p.G273C|CCR2_ENST00000400888.2_Missense_Mutation_p.G273C|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	273					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGAATTCTTCGGCCTGAGTAA	0.468000													29	132					1.5548e-18	2.7047e-18	1	1	0
SIM1	6492	broad.mit.edu	37	6	100838303	100838303	+	Silent	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:100838303C>G	ENST00000369208.3	-	12	3017	c.2235G>C	c.(2233-2235)ctG>ctC	p.L745L	SIM1_ENST00000262901.4_Silent_p.L745L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	745	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTGCATCCTCAGATGGGAAG	0.413000													29	91					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427291	104427291	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:104427291C>G	ENST00000297579.5	+	1	350	c.73C>G	c.(73-75)Ctc>Gtc	p.L25V	SLC25A32_ENST00000543107.1_5'UTR|SLC25A32_ENST00000297578.4_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AACGAGAGGACTCTTATGCCC	0.682000													5	29					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66276579	66276579	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:66276579G>T	ENST00000532677.1	+	18	2529	c.2128G>T	c.(2128-2130)Gcg>Tcg	p.A710S	DPP3_ENST00000530165.1_Missense_Mutation_p.A661S|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.A691S|DPP3_ENST00000360510.2_Missense_Mutation_p.A691S|DPP3_ENST00000541961.1_Missense_Mutation_p.A691S|DPP3_ENST00000531863.1_Missense_Mutation_p.A711S	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	691					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGAATACGAGGCGTCAGCTGC	0.542000													7	63					0.00198382	0.00217959	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144917896	144917896	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:144917896C>T	ENST00000529945.1	-	7	2318	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D601N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D627N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D464N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D464N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D464N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D464N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D601N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D251N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D530N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	464					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTTTTGTCTGAGTTATCT	0.368000			T	PDGFRB	MPD								12	325					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429730	12429730	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:12429730C>G	ENST00000293725.5	-	4	1314	c.1109G>C	c.(1108-1110)tGt>tCt	p.C370S		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTTTTCCCACACTGCTTGCA	0.408000													38	119					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376342	52376342	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:52376342T>A	ENST00000420592.1	-	6	2057	c.724A>T	c.(724-726)Agt>Tgt	p.S242C	ZNF577_ENST00000451628.2_Missense_Mutation_p.S242C|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.S301C|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCACAATCACTGCATTTATAA	0.438000													11	63					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283068	63283068	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:63283068T>C	ENST00000415491.2	+	7	1178	c.564T>C	c.(562-564)caT>caC	p.H188H	LGALS12_ENST00000394618.3_Silent_p.H249H|LGALS12_ENST00000340246.5_Silent_p.H250H|LGALS12_ENST00000255684.5_Silent_p.H240H|LGALS12_ENST00000425950.2_Silent_p.H179H	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	249					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGGCTGCCCATGCTCCTGTGA	0.597000													14	40					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643219	1643219	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:1643219A>C	ENST00000399682.1	-	1	149	c.105T>G	c.(103-105)tgT>tgG	p.C35W		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	35						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcccccacagccggagc	0.692000													12	72					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235790	25235790	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:25235790G>A	ENST00000219660.5	+	4	620	c.495G>A	c.(493-495)acG>acA	p.T165T	AQP8_ENST00000566125.1_Silent_p.T159T	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	165					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TCATCCTGACGACGCTGCTGG	0.612000													5	60					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57528578	57528578	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:57528578C>A	ENST00000371236.2	-	9	965	c.702G>T	c.(700-702)gtG>gtT	p.V234V	DAB1_ENST00000420954.2_Silent_p.V199V|DAB1_ENST00000439789.2_Silent_p.V115V|DAB1_ENST00000371234.4_Silent_p.V234V|DAB1_ENST00000371231.1_Silent_p.V234V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.V199V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	234					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GACTTTTTGGCACATCATAAA	0.438000													4	34					0.014758	0.0155331	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7657328	7657328	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:7657328G>A	ENST00000340209.4	+	7	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RBFOX1_ENST00000547338.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E242K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E239K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E265K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E242K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E242K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E265K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E179K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	222					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTACAGTCCCGAATTCTATGC	0.353000													8	71					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686571	127686571	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:127686571C>A	ENST00000508053.1	-	27	3775	c.2801G>T	c.(2800-2802)cGg>cTg	p.R934L	FBN2_ENST00000262464.4_Missense_Mutation_p.R934L|FBN2_ENST00000508989.1_Missense_Mutation_p.R901L			P35556	FBN2_HUMAN	fibrillin 2	934	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TAGTTCACACCGCTCACAGGG	0.542000													7	43					0.00198382	0.00217959	1	1	0
USP9X	8239	broad.mit.edu	37	X	41075556	41075556	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:41075556T>C	ENST00000324545.7	+	35	6369	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D	USP9X_ENST00000378308.2_Silent_p.D1912D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1912					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAATGGATGATGACGAAGAAA	0.388000													25	100					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52912996	52912996	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:52912996G>T	ENST00000373980.4	+	2	801	c.384G>T	c.(382-384)caG>caT	p.Q128H	PRKG1_ENST00000401604.2_Missense_Mutation_p.Q113H|PRKG1_ENST00000373985.1_Missense_Mutation_p.Q101H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	113					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGCAGATCCAGGAGATTGTGG	0.468000													18	78					6.94344e-10	1.03224e-09	1	1	0
DGKK	139189	broad.mit.edu	37	X	50213335	50213335	+	RNA	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:50213335G>T	ENST00000376025.2	-	0	402							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gcaggttctggggccggttct	0.677000													17	102					8.60227e-14	1.42707e-13	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68178260	68178260	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:68178260T>C	ENST00000262215.3	-	14	2493	c.2104A>G	c.(2104-2106)Ata>Gta	p.I702V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.I156V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	702					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTTGTTCTATTATTTCTTTT	0.408000													18	31					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831436	49831436	+	RNA	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:49831436G>C	ENST00000527477.1	+	0	1661																											GGGGTGCTCAGACTTTCACCT	0.458000													6	39					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910561	35910561	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:35910561G>T	ENST00000397367.2	-	3	348	c.222C>A	c.(220-222)gtC>gtA	p.V74V	CAPSL_ENST00000397366.1_Silent_p.V74V|CAPSL_ENST00000514524.1_Silent_p.V74V	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	74	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTTTTCCATGACCACAGCAT	0.328000													5	39					0.000602214	0.0006826	1	1	0
NPY4R	5540	broad.mit.edu	37	10	47086949	47086949	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:47086949G>T	ENST00000374312.1	+	3	585	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F	NPY4R_ENST00000395716.1_Missense_Mutation_p.V56F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGTCGTGGGGGTCCTGGGTAA	0.542000													8	119					0.0477658	0.0496486	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49620679	49620679	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr20:49620679C>A	ENST00000371571.4	-	3	1724	c.1439G>T	c.(1438-1440)cGg>cTg	p.R480L	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	480						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCGCCCTCCGGAACATCAC	0.572000													4	40					0.150653	0.153409	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136480	64136480	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:64136480T>C	ENST00000395254.3	+	2	808	c.528T>C	c.(526-528)atT>atC	p.I176I	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Silent_p.I176I|ZNF365_ENST00000395255.3_Silent_p.I176I	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGGACCATTGAGAAGAGAA	0.488000													24	101					0	0	1	0	0
HAUS2	55142	broad.mit.edu	37	15	42858824	42858824	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:42858824T>A	ENST00000260372.3	+	6	581	c.518T>A	c.(517-519)aTg>aAg	p.M173K	HAUS2_ENST00000568876.1_Missense_Mutation_p.M142K	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	173					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						TTAGCAAAGATGGATATATTG	0.353000													11	31					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585058	44585058	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:44585058C>G	ENST00000422871.1	+	6	736	c.312C>G	c.(310-312)caC>caG	p.H104Q	PARVG_ENST00000444313.2_Missense_Mutation_p.H104Q|PARVG_ENST00000415224.1_Missense_Mutation_p.H104Q	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	104	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCCAGAAGCACAAGCTCACAG	0.647000													17	43					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49127101	49127101	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:49127101G>A	ENST00000055335.6	+	1	785	c.769G>A	c.(769-771)Gcg>Acg	p.A257T	PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	257	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGGCGATGGGGCGCGCCTCGA	0.701000													5	20					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814315	45814315	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:45814315C>G	ENST00000261867.4	-	2	552	c.238G>C	c.(238-240)Gac>Cac	p.D80H	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	80	Asp-rich (acidic).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AAAGGTAAGTCTTGGTCCAGT	0.547000													8	95					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953738	89953738	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:89953738A>T	ENST00000405460.2	+	21	4491	c.4395A>T	c.(4393-4395)agA>agT	p.R1465S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1465					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATACTGAGAATTGGAGCAG	0.398000													5	52					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510513	56510513	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:56510513G>T	ENST00000302957.3	-	1	774	c.775C>A	c.(775-777)Cac>Aac	p.H259N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAGATGAGGTGGGAAGCACAG	0.463000													22	64					1.64113e-05	2.05552e-05	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96706462	96706462	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:96706462G>T	ENST00000389672.5	+	3	777	c.739G>T	c.(739-741)Gct>Tct	p.A247S	EPHA6_ENST00000470610.2_Missense_Mutation_p.A247S|EPHA6_ENST00000542517.1_Missense_Mutation_p.A153S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	152						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACAATTGCTGCTGATGAGAG	0.393000													26	196					4.72057e-08	6.64328e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9066640	9066640	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:9066640A>T	ENST00000397910.4	-	3	21009	c.20806T>A	c.(20806-20808)Tct>Act	p.S6936T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6938	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGTCTCAGAGGAAACAGAC	0.458000													48	150					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810322	31810322	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:31810322C>A	ENST00000446923.2	+	7	2402	c.2011C>A	c.(2011-2013)Cca>Aca	p.P671T	ZEB1_ENST00000560721.2_Missense_Mutation_p.P667T|ZEB1_ENST00000361642.5_Missense_Mutation_p.P688T|ZEB1_ENST00000542815.3_Missense_Mutation_p.P620T|ZEB1_ENST00000320985.10_Missense_Mutation_p.P687T|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	687					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GACTAACTCCCCAGTTTTACC	0.443000													8	62					0.000157383	0.000186404	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:113267504C>A	ENST00000297405.5	-	62	10259	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3339	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATGAACCACTCCAAGTG	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	52					8.60227e-14	1.42707e-13	1	1	0
GLCCI1	113263	broad.mit.edu	37	7	8099879	8099879	+	Splice_Site	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:8099879G>T	ENST00000223145.5	+	5	1523		c.e5+1		GLCCI1_ENST00000474269.1_Splice_Site	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1											endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGTATCCAAGGTAAGGTTACA	0.338000													9	37					0.000274275	0.000321056	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	67					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286414	79286414	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:79286414C>T	ENST00000442340.1	+	9	1497	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	TBX22_ENST00000373296.3_Missense_Mutation_p.P456L|TBX22_ENST00000373294.5_Missense_Mutation_p.P456L|TBX22_ENST00000373291.1_Missense_Mutation_p.P336L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	456					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTTTTCTGCCAAACTCCATC	0.393000													30	78					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592988	38592988	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:38592988G>C	ENST00000413689.1	-	28	5068	c.4875C>G	c.(4873-4875)atC>atG	p.I1625M	SCN5A_ENST00000423572.2_Missense_Mutation_p.I1624M|SCN5A_ENST00000425664.1_Missense_Mutation_p.I1607M|SCN5A_ENST00000450102.2_Missense_Mutation_p.I1571M|SCN5A_ENST00000333535.4_Missense_Mutation_p.I1625M|SCN5A_ENST00000414099.2_Missense_Mutation_p.I1607M|SCN5A_ENST00000451551.2_Missense_Mutation_p.I1571M|SCN5A_ENST00000443581.1_Missense_Mutation_p.I1624M|SCN5A_ENST00000449557.2_Missense_Mutation_p.I1571M|SCN5A_ENST00000455624.2_Missense_Mutation_p.I1592M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1625					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGCCAGGCGGATGACTCGGA	0.597000													10	88					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532018	42532018	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:42532018A>T	ENST00000282030.5	+	4	3009	c.2713A>T	c.(2713-2715)Att>Ttt	p.I905F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	905						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCGGAGGCCATTCCGTCCGA	0.537000									Schinzel-Giedion syndrome				5	26					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39542598	39542598	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr13:39542598G>T	ENST00000379631.4	-	6	934	c.590C>A	c.(589-591)cCc>cAc	p.P197H	STOML3_ENST00000423210.1_Missense_Mutation_p.P188H	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	197						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CAACTGCACGGGAATCCGAAC	0.537000													21	70					2.21704e-12	3.57149e-12	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36321859	36321859	+	Splice_Site	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:36321859C>A	ENST00000378910.5	-	28	3481		c.e28-1		NPHS1_ENST00000353632.6_Splice_Site	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)						cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGTGAAACCTGGAGTTGGA	0.572000													18	56					0.00498961	0.0053759	1	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764988	109764988	+	RNA	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:109764988G>T	ENST00000602699.1	+	0	1449					NR_002718.2																						GACCCGTAAAGGCTGCTGCTA	0.343000													11	30					4.68919e-08	6.6177e-08	1	1	0
IL11RA	3590	broad.mit.edu	37	9	34658567	34658567	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:34658567C>T	ENST00000555003.1	+	8	2053	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	IL11RA_ENST00000441545.2_Missense_Mutation_p.P233S|IL11RA_ENST00000602473.1_Missense_Mutation_p.P233S|IL11RA_ENST00000378817.4_Missense_Mutation_p.P233S|IL11RA_ENST00000318041.9_Missense_Mutation_p.P233S			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	233	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCAGGTTACCCCCGACGCCT	0.627000													5	54					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95752001	95752001	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:95752001G>T	ENST00000414645.2	+	6	693	c.594G>T	c.(592-594)gcG>gcT	p.A198A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	198						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTACTGTTGCGTGGTTCGTTA	0.378000													33	184					2.81731e-10	4.23866e-10	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040175	31040175	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:31040175C>A	ENST00000355537.3	+	4	3796	c.3649C>A	c.(3649-3651)Ccc>Acc	p.P1217T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACCTCCCAGCCCGTCCAGGG	0.622000													10	38					4.68919e-08	6.6177e-08	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3342755	3342755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:3342755G>T	ENST00000378398.3	+	15	3332	c.3250G>T	c.(3250-3252)Gag>Tag	p.E1084*	PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E1083*|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E1083*|PRDM16_ENST00000511072.1_Nonsense_Mutation_p.E1085*|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Nonsense_Mutation_p.E1084*|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.E1084*|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E1084*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1084	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E1083*(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGCCAATAGTGAGATGAACCA	0.517000			T	EVI1	"""MDS, AML"""								11	41					2.80697e-09	4.11197e-09	1	1	0
C1orf50	79078	broad.mit.edu	37	1	43239266	43239266	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:43239266C>T	ENST00000372525.5	+	3	271	c.228C>T	c.(226-228)aaC>aaT	p.N76N	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	76										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGCCACCAACAAGCTGACAG	0.393000													5	28					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99718853	99718853	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:99718853C>A	ENST00000523601.1	-	8	1009	c.610G>T	c.(610-612)Gca>Tca	p.A204S	STK3_ENST00000419617.2_Missense_Mutation_p.A176S	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	176	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTGCGTTTTGCCATTGTATCC	0.383000													9	79					1.58986e-06	2.09611e-06	1	1	0
LPL	4023	broad.mit.edu	37	8	19811772	19811772	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:19811772G>T	ENST00000311322.8	+	5	1153	c.683G>T	c.(682-684)gGg>gTg	p.G228V		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	228					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AAACCAGTTGGGCATGTTGAC	0.473000													20	61					1.33834e-09	1.9663e-09	1	1	0
LHX8	431707	broad.mit.edu	37	1	75622604	75622604	+	Silent	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:75622604C>G	ENST00000294638.5	+	9	1501	c.837C>G	c.(835-837)cgC>cgG	p.R279R	LHX8_ENST00000356261.3_Silent_p.R269R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	279						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						GTAGAGCACGCCACAAGAAAC	0.478000													13	113					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33282863	33282863	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:33282863T>C	ENST00000431845.2	-	2	1982	c.1831A>G	c.(1831-1833)Agc>Ggc	p.S611G	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S611G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACACGTCTGCTGGACGGGGGC	0.682000													10	37					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134912262	134912262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:134912262C>T	ENST00000607359.1	+	13	2410	c.2410C>T	c.(2410-2412)Cag>Tag	p.Q804*	GPR123_ENST00000392607.3_Nonsense_Mutation_p.Q84*			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	84						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CATCCTGTGCCAGGCGGTGAG	0.597000													5	100					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289000													14	38					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889156	32889156	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:32889156C>A	ENST00000266087.7	+	7	1359	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	FBXO7_ENST00000382058.3_Missense_Mutation_p.F265L|FBXO7_ENST00000397426.1_Missense_Mutation_p.F230L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	344	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACGGATCTTCCGACTTCTGG	0.443000													15	135					1.05317e-09	1.55646e-09	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634214	32634214	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:32634214C>G	ENST00000242310.4	-	1	1453	c.1364G>C	c.(1363-1365)tGg>tCg	p.W455S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	455					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAAGGAAGCCAGCCTGCCAG	0.473000													37	152					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510405	56510405	+	Missense_Mutation	SNP	C	C	T	rs142119383		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:56510405C>T	ENST00000302957.3	-	1	882	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V295M(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGTTGATCACGGTGTAGAAC	0.443000													5	69					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155237272	155237272	+	Splice_Site	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:155237272G>T	ENST00000424344.3	+	9	1276	c.909_splice	c.e9+1	p.Q303_splice	IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000244174.5_Splice_Site_p.Q324_splice|IL9R_ENST00000494962.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	324					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAACTTCCAGGTGTGTGCAG	0.572000													10	31					4.7546e-09	6.90451e-09	1	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260295	30260295	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:30260295C>A	ENST00000378982.2	+	1	239	c.43C>A	c.(43-45)Cgc>Agc	p.R15S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567000													7	41					0.000157383	0.000186404	1	1	0
PCF11	51585	broad.mit.edu	37	11	82879770	82879770	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:82879770T>A	ENST00000298281.4	+	8	2845	c.2393T>A	c.(2392-2394)aTg>aAg	p.M798K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	798	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAGGACAAATGGGGGGAGGA	0.522000													12	37					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17586480	17586480	+	Splice_Site	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:17586480G>C	ENST00000319363.6	+	10	1064		c.e10-1			NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A						fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTCATTGCAGAACCAATTCC	0.507000													12	171					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970490	105970490	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:105970490G>T	ENST00000255499.2	+	1	597	c.347G>T	c.(346-348)tGg>tTg	p.W116L	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	116	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAAGTCTCTTGGTTGGCCCTC	0.622000													5	53					0.014758	0.0155331	1	1	0
MS4A12	54860	broad.mit.edu	37	11	60264852	60264852	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:60264852C>A	ENST00000016913.4	+	2	118	c.61C>A	c.(61-63)Cca>Aca	p.P21T	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P21T	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	21						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAACCCTTACCCACCAAGCAG	0.453000													7	88					0.27861	0.280853	1	1	0
MIR509-3	100126337	broad.mit.edu	37	X	146341192	146341192	+	RNA	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:146341192G>T	ENST00000390725.1	-	0	52					NR_030629.1																						ACCCACAGACGTACCAATCAT	0.463000													17	176					2.48551e-13	4.09618e-13	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872924	51872924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr20:51872924C>A	ENST00000371497.5	+	2	3814	c.2927C>A	c.(2926-2928)tCg>tAg	p.S976*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.S973*|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.S973*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	976					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGGGTATCGTCGGCTCAGAGG	0.493000													7	53					0.00198382	0.00217959	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021741	51021741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:51021741C>A	ENST00000599957.1	-	3	1426	c.1229G>T	c.(1228-1230)cGc>cTc	p.R410L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R410L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	410	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GATGCGCACGCGGTAGGAGCC	0.642000													3	24					0.115264	0.118335	1	1	0
FLNA	2316	broad.mit.edu	37	X	153587763	153587763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:153587763G>T	ENST00000422373.1	-	25	4402	c.4154C>A	c.(4153-4155)aCg>aAg	p.T1385K	FLNA_ENST00000360319.4_Missense_Mutation_p.T1385K|FLNA_ENST00000369850.3_Missense_Mutation_p.T1385K|FLNA_ENST00000344736.4_Missense_Mutation_p.T1385K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1385					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGCCGCCCGTGCCAGCTCC	0.647000													25	169					5.45024e-15	9.2249e-15	1	1	0
CCDC42	146849	broad.mit.edu	37	17	8647018	8647018	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:8647018G>T	ENST00000293845.3	-	3	446	c.220C>A	c.(220-222)Ctg>Atg	p.L74M	CCDC42_ENST00000539522.2_Missense_Mutation_p.L74M	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	74										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCCAGCGCAGGTTCAGGGTT	0.582000													5	35					0.184627	0.187623	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129270701	129270701	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:129270701C>A	ENST00000287295.3	-	11	1311	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F	AIFM1_ENST00000319908.3_Missense_Mutation_p.V357F|AIFM1_ENST00000460436.2_Missense_Mutation_p.V22F|AIFM1_ENST00000440263.1_Missense_Mutation_p.V9F|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.V74F	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	361	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						ATCACCTTAACCCCCTCTGTA	0.483000													10	67					1.08611e-07	1.50731e-07	1	1	0
YAP1	10413	broad.mit.edu	37	11	102076813	102076813	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:102076813C>T	ENST00000537274.1	+	5	1362	c.992C>T	c.(991-993)cCa>cTa	p.P331L	YAP1_ENST00000531439.1_Intron|YAP1_ENST00000526343.1_Intron|YAP1_ENST00000524575.1_Intron|YAP1_ENST00000345877.2_Missense_Mutation_p.P293L|YAP1_ENST00000282441.5_Intron	NM_001195044.1	NP_001181973.1	P46937	YAP1_HUMAN	Yes-associated protein 1	343	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CAGGTGAGGCCACAGGTTAGA	0.468000													5	41					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315655	48315655	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:48315655A>T	ENST00000435803.1	+	17	6416	c.6392A>T	c.(6391-6393)cAg>cTg	p.Q2131L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2131					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTGGCTTCAGGAATATGCA	0.363000													4	16					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796967	210796967	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:210796967G>T	ENST00000367010.1	+	11	1570	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V	HHAT_ENST00000367009.1_Missense_Mutation_p.G138V|HHAT_ENST00000308852.6_Missense_Mutation_p.G403V|HHAT_ENST00000545781.1_Missense_Mutation_p.G385V|HHAT_ENST00000261458.3_Missense_Mutation_p.G448V|HHAT_ENST00000391905.3_Missense_Mutation_p.G448V|HHAT_ENST00000541565.1_Missense_Mutation_p.G311V|HHAT_ENST00000545154.1_Missense_Mutation_p.G449V|HHAT_ENST00000537898.1_Missense_Mutation_p.G383V|HHAT_ENST00000413764.2_Missense_Mutation_p.G448V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	448	GTP-binding (Probable).		G -> E (in a melanoma cell line; abolishes GTP-binding).		multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTATTTCTTGGGGGCAATGAG	0.488000													45	221					3.76604e-16	6.4838e-16	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67147697	67147697	+	Silent	SNP	G	G	T	rs146689605	byFrequency	TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:67147697G>T	ENST00000371037.4	+	15	1037	c.960G>T	c.(958-960)ccG>ccT	p.P320P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATACATCCCCGGAACATGTTA	0.522000													25	129					9.57634e-11	1.4717e-10	1	1	0
MIR498	574460	broad.mit.edu	37	19	54177530	54177530	+	RNA	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:54177530C>T	ENST00000385134.1	+	0	80					NR_030182.1																						AAAGCACCTCCAGAGCTTGAA	0.438000													18	68					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53571671	53571671	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:53571671C>A	ENST00000342160.3	-	71	11558	c.11101G>T	c.(11101-11103)Ggt>Tgt	p.G3701C	HUWE1_ENST00000262854.6_Missense_Mutation_p.G3701C|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3701					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCCGGCCACCCAAAGGTCGC	0.488000													6	69					3.59834e-05	4.4294e-05	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56481847	56481847	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:56481847T>A	ENST00000267101.3	+	7	1215	c.775T>A	c.(775-777)Tgt>Agt	p.C259S	ERBB3_ENST00000415288.2_Missense_Mutation_p.C200S|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	259					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTACCTCGCTGTCCACAGCC	0.527000													7	61					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680254	6680254	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:6680254G>T	ENST00000377648.4	+	3	915	c.533G>T	c.(532-534)aGt>aTt	p.S178I	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	178					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCCCTCGAGTGGATCTTGT	0.582000													12	41					3.07112e-06	3.96554e-06	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	80					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998781	173998781	+	Silent	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:173998781T>C	ENST00000457714.1	+	7	2589	c.2160T>C	c.(2158-2160)aaT>aaC	p.N720N	NLGN1_ENST00000545397.1_Silent_p.N720N|NLGN1_ENST00000401917.3_Silent_p.N760N|NLGN1_ENST00000361589.4_Silent_p.N720N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	737					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTACTACCAATGATCTAACCC	0.453000													19	68					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924458	236924458	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:236924458C>A	ENST00000366578.4	+	20	2677	c.2511C>A	c.(2509-2511)atC>atA	p.I837I	ACTN2_ENST00000542672.1_Silent_p.I837I|ACTN2_ENST00000546208.1_Silent_p.I331I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	837					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTTCCGGATCCTGGCTTCTG	0.488000													11	51					6.40141e-05	7.74663e-05	1	1	0
AARS2	57505	broad.mit.edu	37	6	44272935	44272935	+	Splice_Site	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:44272935G>A	ENST00000244571.4	-	11	1437	c.1434_splice	c.e11-1	p.H479_splice	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	479					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CGTGCCCGGTGCTGCAGGGTG	0.607000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	70					0	0	1	0	0
CHMP5	51510	broad.mit.edu	37	9	33270625	33270625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:33270625G>T	ENST00000419016.2	+	4	266	c.226G>T	c.(226-228)Gag>Tag	p.E76*	CHMP5_ENST00000223500.8_Nonsense_Mutation_p.E76*	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	76					cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAAAAGGTATGAGCAGCAGCG	0.388000													5	56					0.014758	0.0155331	1	1	0
RCBTB2	1102	broad.mit.edu	37	13	49089381	49089381	+	Silent	SNP	G	G	A	rs139359675		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr13:49089381G>A	ENST00000344532.3	-	6	732	c.309C>T	c.(307-309)ctC>ctT	p.L103L	RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000544904.1_Silent_p.L79L|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Silent_p.L108L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	103							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCCATAGCTGAGGCAGGCTA	0.473000													11	114					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866340	37866340	+	Splice_Site	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:37866340G>T	ENST00000406381.2	+	8	1065	c.553_splice	c.e8-1	p.L185_splice	ERBB2_ENST00000578199.1_Splice_Site_p.L185_splice|ERBB2_ENST00000541774.1_Splice_Site_p.L200_splice|ERBB2_ENST00000540147.1_Splice_Site_p.L185_splice|ERBB2_ENST00000269571.5_Splice_Site_p.L215_splice|ERBB2_ENST00000584601.1_Splice_Site_p.L185_splice|ERBB2_ENST00000584450.1_Splice_Site_p.L215_splice|ERBB2_ENST00000540042.1_Splice_Site_p.L185_splice|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	215					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCCCAACAGTGACGCGCACTG	0.662000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			18	75					5.35267e-07	7.20883e-07	1	1	0
GK2	2712	broad.mit.edu	37	4	80328415	80328415	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:80328415C>A	ENST00000358842.3	-	1	957	c.940G>T	c.(940-942)Gca>Tca	p.A314S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	314					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						GCATAATATGCTGGCTTCTCT	0.423000													37	113					4.65686e-17	8.07297e-17	1	1	0
CA10	56934	broad.mit.edu	37	17	49726580	49726580	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:49726580C>T	ENST00000451037.2	-	6	1537	c.597G>A	c.(595-597)atG>atA	p.M199I	CA10_ENST00000340813.6_Missense_Mutation_p.M205I|CA10_ENST00000570565.1_Missense_Mutation_p.M124I|CA10_ENST00000285273.4_Missense_Mutation_p.M199I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.M199I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	199					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTCTGTTGAGCATTCGATTAA	0.388000													5	42					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058552	53058552	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:53058552G>T	ENST00000359798.4	+	5	2563	c.2383G>T	c.(2383-2385)Gtt>Ttt	p.V795F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	795					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAATGTACGGTTTGTGACAA	0.413000													30	152					5.45727e-16	9.33137e-16	1	1	0
CHL1	10752	broad.mit.edu	37	3	405044	405044	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:405044C>A	ENST00000256509.2	+	14	2205	c.1563C>A	c.(1561-1563)gtC>gtA	p.V521V	CHL1_ENST00000397491.2_Silent_p.V505V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	505	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAACTGCAGTCACAGCCAATT	0.368000													11	48					6.40141e-05	7.74663e-05	1	1	0
USH1C	10083	broad.mit.edu	37	11	17527396	17527396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:17527396G>T	ENST00000005226.7	-	19	2113	c.2114C>A	c.(2113-2115)gCt>gAt	p.A705D	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATTTCACAGCTGGCCTGTA	0.582000													4	24					0.00909568	0.00969561	1	1	0
ARF3	377	broad.mit.edu	37	12	49334812	49334812	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:49334812C>T	ENST00000256682.4	-	2	401	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	ARF3_ENST00000447318.2_Missense_Mutation_p.V23M|ARF3_ENST00000398092.4_Missense_Mutation_p.V23M|ARF3_ENST00000541959.1_Missense_Mutation_p.V23M	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	23					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCCAGGCCCACCATCAGGATG	0.532000													27	96					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	32902943	32902943	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:32902943G>C	ENST00000280979.4	+	2	414	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	AKAP6_ENST00000557272.1_Missense_Mutation_p.E82Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.E82Q|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	82					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GATGACCTCAGAGAGGGTCCG	0.507000													4	59					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097367	110097367	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:110097367G>A	ENST00000355943.3	+	8	1268	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	SLC25A46_ENST00000447245.2_Missense_Mutation_p.G300E|SLC25A46_ENST00000504098.1_Missense_Mutation_p.G235E|SLC25A46_ENST00000513807.1_Missense_Mutation_p.G219E|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.G290E|SLC25A46_ENST00000509432.1_Missense_Mutation_p.G168E	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	381					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CAGGAGGAAGGAGTGTTTGGT	0.358000													4	59					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525537	248525537	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248525537C>A	ENST00000366475.1	+	1	655	c.655C>A	c.(655-657)Ctc>Atc	p.L219I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTATTGAATCTCTCCTGCTC	0.468000													35	180					6.50621e-10	9.70123e-10	1	1	0
GRM3	2913	broad.mit.edu	37	7	86468493	86468493	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:86468493C>A	ENST00000361669.2	+	4	2762	c.1663C>A	c.(1663-1665)Ccc>Acc	p.P555T	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.P147T|GRM3_ENST00000536043.1_Missense_Mutation_p.P427T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	555					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGACAGTGGCCCACTGCAGA	0.547000													20	78					1.00905e-13	1.66842e-13	1	1	0
TEX11	56159	broad.mit.edu	37	X	69890281	69890281	+	Silent	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:69890281G>C	ENST00000395889.2	-	17	1526	c.1371C>G	c.(1369-1371)acC>acG	p.T457T	TEX11_ENST00000344304.3_Silent_p.T457T|TEX11_ENST00000374320.2_Silent_p.T132T|TEX11_ENST00000374333.2_Silent_p.T442T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	457							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCAGCTTGGTGAAGTCCA	0.358000													13	48					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469550	72469550	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:72469550G>T	ENST00000296776.5	+	1	529	c.480G>T	c.(478-480)gtG>gtT	p.V160V	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	160						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGCAGTCTGTGGTGAGCCCCT	0.542000													5	64					0.000602214	0.0006826	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637427	248637427	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248637427C>A	ENST00000359594.2	+	1	801	c.776C>A	c.(775-777)gCt>gAt	p.A259D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTCGGTGCTTCCTTCTAC	0.552000													24	313					1.96895e-08	2.82648e-08	1	1	0
MYT1	4661	broad.mit.edu	37	20	62851065	62851065	+	Splice_Site	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr20:62851065G>T	ENST00000536311.1	+	13	2416		c.e13-1		MYT1_ENST00000328439.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCCATTGCAGTCTGTGGATA	0.498000													7	41					1.12685e-05	1.42205e-05	1	1	0
GRM8	2918	broad.mit.edu	37	7	126086289	126086289	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:126086289G>A	ENST00000339582.2	-	10	3376	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F	GRM8_ENST00000358373.3_Silent_p.F856F|GRM8_ENST00000444921.2_Silent_p.F856F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	856					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCACAGCCTTGAAGCTCCTCT	0.423000										HNSCC(24;0.065)			6	108					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562732	113562732	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr9:113562732C>A	ENST00000416899.2	+	13	2176	c.2050C>A	c.(2050-2052)Cct>Act	p.P684T	MUSK_ENST00000189978.5_Missense_Mutation_p.P692T|MUSK_ENST00000374448.4_Missense_Mutation_p.P692T			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	692	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGTCTCCAGCCCTGGGCCCCC	0.587000													8	128					0.000157383	0.000186404	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:26147239C>A	ENST00000331351.5	+	2	1433	c.1041C>A	c.(1039-1041)ttC>ttA	p.F347L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	347					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000													6	127					0.0215528	0.0225427	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96293707	96293707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr13:96293707C>A	ENST00000347108.3	-	3	871	c.439G>T	c.(439-441)Gag>Tag	p.E147*	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.E147*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.E147*|DZIP1_ENST00000376829.2_Nonsense_Mutation_p.E147*			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	147					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CGCAGCCGCTCCTCCAGGGTG	0.622000													10	31					2.17888e-05	2.71547e-05	1	1	0
AFF2	2334	broad.mit.edu	37	X	147743630	147743630	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:147743630G>T	ENST00000370460.2	+	3	861	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	AFF2_ENST00000342251.3_Missense_Mutation_p.D124Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D124Y|AFF2_ENST00000370458.1_Missense_Mutation_p.D124Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	128					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCACCAGGATAATACCCA	0.413000													47	292					1.5731e-28	2.80471e-28	1	1	0
HOXD13	3239	broad.mit.edu	37	2	176959356	176959356	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:176959356G>A	ENST00000392539.3	+	2	930	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	310					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGCGTATCTCGGCTGCTACGA	0.448000			T	NUP98	AML*								4	45					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172196065	172196065	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:172196065G>A	ENST00000239223.3	-	4	1046	c.804C>T	c.(802-804)atC>atT	p.I268I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	268	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		AAGCAAGGCAGATGGTGGCTG	0.517000													4	61					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612000													13	69					7.93312e-07	1.05986e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141243049	141243049	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:141243049C>A	ENST00000389484.3	-	59	10259	c.9288G>T	c.(9286-9288)tgG>tgT	p.W3096C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3096					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTCCAATCCAATCGACAG	0.383000										TSP Lung(27;0.18)			4	26					0.00909568	0.00969561	1	1	0
RBM14	10432	broad.mit.edu	37	11	66392770	66392770	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:66392770G>T	ENST00000310137.4	+	2	1562	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	475	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GAATAGTTACGGGGCCCAAGC	0.647000													29	107					7.01153e-11	1.08085e-10	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978693	247978693	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:247978693G>A	ENST00000357627.1	-	1	338	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ACATCACCGTGAGGAGGAGCA	0.473000													6	75					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755871	21755871	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr5:21755871C>T	ENST00000382254.1	-	14	2800	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.E572K|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.E532K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	572	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTGCTGTCTTCTATTACAACA	0.458000										HNSCC(59;0.17)			6	85					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978078	107978078	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:107978078C>A	ENST00000372129.2	-	1	1573	c.1497G>T	c.(1495-1497)cgG>cgT	p.R499R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	499						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCCTGAGCCCCGGCCATTTC	0.587000													12	140					0.010729	0.0113882	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100292	168100292	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:168100292T>C	ENST00000409195.1	+	9	2479	c.2390T>C	c.(2389-2391)aTg>aCg	p.M797T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M797T|XIRP2_ENST00000409273.1_Missense_Mutation_p.M575T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	622					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAATATCCATGGAAGAAAAT	0.398000													11	63					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340690	39340690	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:39340690G>T	ENST00000398472.1	-	1	904	c.417C>A	c.(415-417)ccC>ccA	p.P139P				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	139	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CACAGCAGCTGGGGCGGCAGC	0.537000													19	105					1.50039e-11	2.32723e-11	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81598291	81598291	+	Splice_Site	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:81598291T>A	ENST00000356860.3	-	29	2647		c.e29-2		CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCCACTTTCtaaaaaaaaaa	0.284000													10	52					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135328039	135328039	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:135328039A>G	ENST00000285968.6	+	39	5518	c.5492A>G	c.(5491-5493)gAc>gGc	p.D1831G		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1831					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCTATTATGACAGTCATCGA	0.458000													9	71					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32591745	32591745	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:32591745T>A	ENST00000357033.4	-	15	1920	c.1714A>T	c.(1714-1716)Agt>Tgt	p.S572C	DMD_ENST00000378677.2_Missense_Mutation_p.S568C|DMD_ENST00000288447.4_Missense_Mutation_p.S564C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	572					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCCATGCACTAAAAAGGCAC	0.338000													5	47					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247586565	247586565	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:247586565T>C	ENST00000366497.2	+	3	1097	c.317T>C	c.(316-318)gTg>gCg	p.V106A	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.V106A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V106A|NLRP3_ENST00000336119.3_Missense_Mutation_p.V106A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V106A|NLRP3_ENST00000391827.2_Missense_Mutation_p.V106A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	106					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AATCCCACTGTGATATGCCAG	0.423000													28	126					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814314	14814314	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:14814314G>A	ENST00000253697.3	+	17	3099	c.2647G>A	c.(2647-2649)Gtg>Atg	p.V883M	C3orf20_ENST00000412910.1_Missense_Mutation_p.V761M|C3orf20_ENST00000435614.1_Missense_Mutation_p.V761M	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	883						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGAGCCTGAAGTGGAGCTACA	0.587000													12	28					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56347592	56347592	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:56347592C>A	ENST00000370754.5	-	89	21197	c.21198G>T	c.(21196-21198)cgG>cgT	p.R7066R	DST_ENST00000446842.2_Silent_p.R6562R|DST_ENST00000421834.2_Silent_p.R4800R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.R4691R|DST_ENST00000244364.6_Silent_p.R4474R|DST_ENST00000361203.3_Silent_p.R6777R|DST_ENST00000370769.4_Silent_p.R6888R			Q03001	DYST_HUMAN	dystonin	6886					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGAGTCATCCCGACTGCCTT	0.517000													18	57					0.00074312	0.000840414	1	1	0
PRODH2	58510	broad.mit.edu	37	19	36303779	36303779	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:36303779C>A	ENST00000301175.3	-	2	174	c.157G>T	c.(157-159)Ggc>Tgc	p.G53C		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	53					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCCCTTGCCCAGACCAGGG	0.547000													4	10					0.000602214	0.0006826	1	1	0
OR2T6	254879	broad.mit.edu	37	1	248551408	248551408	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:248551408C>T	ENST00000355728.2	+	1	499	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGTCTCCCGTTCTGTGC	0.537000													5	27					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207933022	207933022	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:207933022T>C	ENST00000358170.2	+	4	584	c.428T>C	c.(427-429)cTt>cCt	p.L143P	CD46_ENST00000367041.1_Missense_Mutation_p.L143P|CD46_ENST00000360212.2_Missense_Mutation_p.L143P|CD46_ENST00000322918.5_Missense_Mutation_p.L143P|CD46_ENST00000357714.1_Missense_Mutation_p.L143P|CD46_ENST00000441839.2_Missense_Mutation_p.L143P|CD46_ENST00000354848.1_Missense_Mutation_p.L143P|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.L143P|CD46_ENST00000367042.1_Missense_Mutation_p.L143P|CD46_ENST00000361067.1_Missense_Mutation_p.L143P|CD46_ENST00000480003.1_Missense_Mutation_p.L143P|CD46_ENST00000367047.1_Missense_Mutation_p.L80P	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	143	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TATTGTGAACTTAAAGGATCA	0.294000													5	10					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046374	34046374	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:34046374C>A	ENST00000354992.2	-	4	958	c.387G>T	c.(385-387)caG>caT	p.Q129H	LARGE_ENST00000402320.1_Missense_Mutation_p.Q129H|LARGE_ENST00000437602.2_Missense_Mutation_p.Q129H|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000337431.2_Missense_Mutation_p.Q129H|LARGE_ENST00000397394.2_Missense_Mutation_p.Q129H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	129					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACGACCGGCTGCTGCCCAC	0.597000													15	106					4.14922e-12	6.59923e-12	1	1	0
TSPAN8	7103	broad.mit.edu	37	12	71533575	71533575	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:71533575C>T	ENST00000393330.2	-	7	729	c.177G>A	c.(175-177)ttG>ttA	p.L59L	TSPAN8_ENST00000546561.1_Silent_p.L59L|TSPAN8_ENST00000247829.3_Silent_p.L59L			P19075	TSN8_HUMAN	tetraspanin 8	59					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTACAGCAATCAATATGTCCA	0.418000													9	170					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47330580	47330580	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:47330580G>T	ENST00000311027.5	+	26	4083	c.3918G>T	c.(3916-3918)gaG>gaT	p.E1306D	MADD_ENST00000395344.3_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000405573.2_Missense_Mutation_p.E116D|MADD_ENST00000406482.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1306D	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1306					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGCTATGGAGACCTTTTCTA	0.502000													12	58					0.0167234	0.0175281	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8747633	8747633	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:8747633G>A	ENST00000276282.6	-	1	3522	c.2936C>T	c.(2935-2937)aCc>aTc	p.T979I		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	979										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AATGTGCACGGTGTAGTGCAG	0.488000													9	54					0	0	1	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749534	22749534	+	RNA	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:22749534C>T	ENST00000390298.2	+	0	92																											GTCCAATTCTCAGACTGTGGT	0.488000													4	45					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946972	144946972	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:144946972C>A	ENST00000525985.1	-	2	521	c.450G>T	c.(448-450)tgG>tgT	p.W150C				P58107	EPIPL_HUMAN	epiplakin 1	150						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACCTCCAGCCAGCTCTGCC	0.692000													7	21					2.17888e-05	2.71547e-05	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36935426	36935426	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:36935426C>A	ENST00000373103.1	-	11	1848	c.1301G>T	c.(1300-1302)aGa>aTa	p.R434I	CSF3R_ENST00000418048.2_Missense_Mutation_p.R434I|CSF3R_ENST00000373106.1_Missense_Mutation_p.R434I|CSF3R_ENST00000373104.1_Missense_Mutation_p.R434I|CSF3R_ENST00000440588.2_Missense_Mutation_p.R434I|CSF3R_ENST00000361632.4_Missense_Mutation_p.R434I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.R434I|CSF3R_ENST00000338937.5_Missense_Mutation_p.R434I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	434	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCATGGAGTCTGGTCAGAGC	0.602000													10	38					3.86212e-05	4.73086e-05	1	1	0
CCDC57	284001	broad.mit.edu	37	17	80156237	80156237	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:80156237C>T	ENST00000392347.1	-	3	505	c.469G>A	c.(469-471)Gag>Aag	p.E157K	CCDC57_ENST00000392343.3_Missense_Mutation_p.E157K|CCDC57_ENST00000389641.4_Missense_Mutation_p.E157K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	157										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGTTTTCTCTCCAGTGTCCAT	0.493000													7	27					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174988	106174988	+	RNA	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:106174988G>T	ENST00000390547.2	-	0	14																											AGACCTTGGGGCTGGTCGGGG	0.622000													6	29					0.00116845	0.00129798	1	1	0
SCML2	10389	broad.mit.edu	37	X	18283769	18283769	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:18283769G>A	ENST00000251900.4	-	8	1043	c.884C>T	c.(883-885)cCc>cTc	p.P295L	SCML2_ENST00000398048.3_Missense_Mutation_p.P31L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	295					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCTCCTTTTGGGGACTGCAGT	0.398000													13	121					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612583	20612583	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr14:20612583C>T	ENST00000333629.1	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAGCACTCCTCTGAAGGAAAG	0.493000													46	151					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56647649	56647649	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:56647649C>T	ENST00000394672.3	+	11	1507	c.1437C>T	c.(1435-1437)cgC>cgT	p.R479R	CCDC66_ENST00000326595.7_Silent_p.R445R|CCDC66_ENST00000436465.2_Silent_p.R479R	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	479										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAGAAGCGCAGGAAGAAAC	0.423000													4	51					0	0	1	0	0
MRPS6	64968	broad.mit.edu	37	21	35514733	35514733	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr21:35514733C>T	ENST00000399312.2	+	3	389	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	71					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TTTTTATGCACCCACCGCAGC	0.383000													5	43					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630413	203630413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:203630413C>T	ENST00000303116.6	+	8	1706	c.964C>T	c.(964-966)Cga>Tga	p.R322*	FAM117B_ENST00000392238.2_Nonsense_Mutation_p.R566*	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	566										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CCGAGTCTCTCGAGGAACAAG	0.532000													7	59					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651500	1651500	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:1651500G>T	ENST00000399676.2	+	1	468	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	144	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCCTGTGGGGGGTCCAAGGG	0.687000													9	42					4.36969e-10	6.55454e-10	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18375991	18375991	+	Missense_Mutation	SNP	G	G	A	rs149314979		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:18375991G>A	ENST00000392413.3	-	3	2574	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	KIAA1683_ENST00000600328.2_Missense_Mutation_p.R787C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R741C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	787						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCACCGAGGCGCTGGCAGGCG	0.677000													6	95					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75148833	75148833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr16:75148833G>A	ENST00000300051.4	-	4	407	c.361C>T	c.(361-363)Cga>Tga	p.R121*	LDHD_ENST00000450168.2_Nonsense_Mutation_p.R121*	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	121	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TCCAGGATTCGGTCCATATGC	0.637000													10	47					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198718	55198718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:55198718G>T	ENST00000340465.2	+	3	378	c.292G>T	c.(292-294)Gga>Tga	p.G98*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	98						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAACTGCTTGGAAAAAAATG	0.294000													17	78					2.23348e-06	2.90643e-06	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	13					3.59834e-05	4.4294e-05	1	1	0
UROC1	131669	broad.mit.edu	37	3	126220155	126220155	+	Splice_Site	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:126220155C>T	ENST00000383579.3	-	11	1084	c.1050_splice	c.e11-1	p.G351_splice	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACAGGTGCCCCCTGCACCTGT	0.587000													4	99					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445403	110445403	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:110445403G>C	ENST00000378402.5	+	28	3402	c.3298G>C	c.(3298-3300)Gtc>Ctc	p.V1100L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1100	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTGTAACAGTCTCAGTTGG	0.348000										HNSCC(38;0.096)			6	171					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122616861	122616861	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:122616861A>T	ENST00000264357.5	+	15	2943	c.2651A>T	c.(2650-2652)tAc>tTc	p.Y884F	GRIA3_ENST00000371256.5_Missense_Mutation_p.Y884F|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y884F|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	884					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGAGAAGGCTACAACGTGTAT	0.413000													12	98					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422327	44422327	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:44422327A>C	ENST00000372343.3	+	4	1720	c.1058A>C	c.(1057-1059)aAt>aCt	p.N353T	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	353					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TATCCTGTCAATGAGACCACC	0.552000													13	84					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19506879	19506879	+	Silent	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr12:19506879G>T	ENST00000538714.1	+	22	2761	c.2757G>T	c.(2755-2757)tcG>tcT	p.S919S	PLEKHA5_ENST00000539256.1_Silent_p.S619S|PLEKHA5_ENST00000299275.6_Silent_p.S861S|PLEKHA5_ENST00000317589.4_Silent_p.S924S|PLEKHA5_ENST00000424268.1_Silent_p.S850S|PLEKHA5_ENST00000429027.2_Silent_p.S1027S|PLEKHA5_ENST00000359180.3_Silent_p.S805S|PLEKHA5_ENST00000355397.3_Silent_p.S919S|PLEKHA5_ENST00000543806.1_Silent_p.S843S	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	861							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGAATCTTCGACAATAGCTT	0.368000													6	57					2.0095e-06	2.63549e-06	1	1	0
CYP3A43	64816	broad.mit.edu	37	7	99457479	99457479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:99457479C>T	ENST00000354829.2	+	10	995	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Nonsense_Mutation_p.Q158*|CYP3A43_ENST00000444905.1_Nonsense_Mutation_p.Q45*|CYP3A43_ENST00000312017.5_Nonsense_Mutation_p.Q298*|CYP3A43_ENST00000415413.1_Nonsense_Mutation_p.Q87*|CYP3A43_ENST00000222382.5_Nonsense_Mutation_p.Q298*|CYP3A43_ENST00000417625.1_Nonsense_Mutation_p.Q188*	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	298			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCTTGTGGCCCAGTCAATTAT	0.428000													7	165					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287490	16287490	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr22:16287490C>A	ENST00000343518.6	-	1	447	c.396G>T	c.(394-396)agG>agT	p.R132S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	132										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCTTGCTCCTGAGTGTCT	0.612000													9	215					1.08611e-07	1.50731e-07	1	1	0
TAS2R4	50832	broad.mit.edu	37	7	141478744	141478744	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:141478744G>T	ENST00000247881.2	+	1	503	c.456G>T	c.(454-456)caG>caT	p.Q152H	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	152					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CGCTTAGCCAGGCATCACCTT	0.468000													34	208					8.88839e-20	1.56799e-19	1	1	0
CXorf27	25763	broad.mit.edu	37	X	37850308	37850308	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:37850308C>T	ENST00000341016.3	+	1	239	c.216C>T	c.(214-216)gcC>gcT	p.A72A	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	72							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GCTTGGAGGCCAGCAACAATG	0.517000													16	44					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902458	61902458	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:61902458C>T	ENST00000427159.2	-	8	1306	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	221					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCTGAACTTCAACCTCCTTA	0.433000													5	67					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129349169	129349169	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:129349169C>T	ENST00000370978.4	-	15	2130	c.1977G>A	c.(1975-1977)atG>atA	p.M659I		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TAACTTACCTCATCATATGAT	0.318000													4	54					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973851	29973851	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:29973851G>C	ENST00000378993.1	+	11	2678	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E669Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	669					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATCGAGCAGGGAGCAGAATCC	0.532000													8	27					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234102515	234102515	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:234102515C>G	ENST00000359570.5	+	25	2468	c.2468C>G	c.(2467-2469)aCg>aGg	p.T823R	INPP5D_ENST00000450745.1_Missense_Mutation_p.T587R|INPP5D_ENST00000455936.2_Missense_Mutation_p.T587R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	835					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCATCTACACGCCTCTCACC	0.592000													9	68					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909093	153909093	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr3:153909093C>T	ENST00000356448.4	+	8	1940	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.S552S	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	552	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCAATCCATCCTTTAAGGAAG	0.393000													4	14					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3417813	3417813	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr4:3417813C>T	ENST00000336727.3	+	7	3296	c.2392C>T	c.(2392-2394)Cct>Tct	p.P798S	RGS12_ENST00000344733.5_Missense_Mutation_p.P798S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.P798S|RGS12_ENST00000338806.4_Missense_Mutation_p.P150S|RGS12_ENST00000306648.7_Missense_Mutation_p.P196S|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.P140S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	798	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCCGCGCACCTCACCCAGA	0.612000													3	15					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21250670	21250670	+	Silent	SNP	C	C	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr10:21250670C>T	ENST00000417816.2	-	4	641	c.288G>A	c.(286-288)agG>agA	p.R96R	NEBL_ENST00000377159.4_Silent_p.R62R	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	760					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTGAAGCCCCTCCCTTTGC	0.463000													17	96					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729141	3729141	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:3729141T>A	ENST00000315677.3	-	7	2180	c.1585A>T	c.(1585-1587)Agc>Tgc	p.S529C	DLGAP1_ENST00000400147.2_Missense_Mutation_p.S227C|DLGAP1_ENST00000400150.3_Missense_Mutation_p.S235C|DLGAP1_ENST00000539435.1_Missense_Mutation_p.S227C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S529C|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400149.3_Missense_Mutation_p.S237C|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S529C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S529C|DLGAP1_ENST00000400155.1_Missense_Mutation_p.S235C|DLGAP1_ENST00000400145.2_Missense_Mutation_p.S227C|DLGAP1_ENST00000534970.1_Missense_Mutation_p.S241C|DLGAP1_ENST00000581699.1_Missense_Mutation_p.S235C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	529					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCACCCGTGCTGCTCTGGATG	0.647000													4	16					0	0	1	0	0
TIMM10B	26515	broad.mit.edu	37	11	6503349	6503349	+	Silent	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:6503349C>A	ENST00000254616.6	+	3	280	c.210C>A	c.(208-210)ctC>ctA	p.L70L	TIMM10B_ENST00000472836.1_Silent_p.L70L|TIMM10B_ENST00000530751.1_Silent_p.L38L	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		ACGTGCAGCTCATGCCTGCCC	0.607000													6	60					4.096e-09	5.98279e-09	1	1	0
CXorf65	158830	broad.mit.edu	37	X	70326388	70326388	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chrX:70326388G>T	ENST00000374251.4	-	1	66	c.19C>A	c.(19-21)Cat>Aat	p.H7N	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	7										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACCTCCATGTTTGATGAAG	0.542000													15	125					0.00244969	0.00267969	1	1	0
FAM227B	196951	broad.mit.edu	37	15	49800493	49800493	+	Silent	SNP	G	G	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:49800493G>A	ENST00000299338.6	-	11	1230	c.927C>T	c.(925-927)tcC>tcT	p.S309S	FAM227B_ENST00000561064.1_Silent_p.S275S	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TGGTGGTTGTGGAGAGTTCTT	0.323000													4	32					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3013707	3013707	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:3013707C>A	ENST00000262953.6	-	11	1095	c.833G>T	c.(832-834)aGc>aTc	p.S278I	TLE2_ENST00000455444.2_Missense_Mutation_p.S156I|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000443826.3_Missense_Mutation_p.S156I|TLE2_ENST00000426948.2_Missense_Mutation_p.S292I|TLE2_ENST00000591529.1_Missense_Mutation_p.S292I|TLE2_ENST00000590536.1_Missense_Mutation_p.S279I|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	278	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCCAAGGCTAGAGGCCAA	0.632000													3	18					0.004672	0.00504455	1	1	0
MALT1	10892	broad.mit.edu	37	18	56409180	56409180	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr18:56409180C>G	ENST00000348428.3	+	14	1945	c.1687C>G	c.(1687-1689)Cca>Gca	p.P563A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.P552A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	563					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACTTACTGATCCAATACAGGG	0.403000			T	BIRC3	MALT								3	50					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119085	55119086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:55119085_55119086insT	ENST00000414150.2	+	3	764_765	c.486_487insT	c.(484-489)aatgggfs	p.G163fs	MROH7_ENST00000421030.2_Frame_Shift_Ins_p.G163fs|MROH7_ENST00000339553.5_Frame_Shift_Ins_p.G163fs|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Frame_Shift_Ins_p.G163fs|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		AGATTTTCAAGTTGGGTCAGAG	0.495													12	89	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681689	152681690	+	In_Frame_Ins	INS	-	-	GGCTGCTGTAGCTCTGGC			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC	ENST00000368777.1	+	2	394_395	c.138_139insGGCTGCTGTAGCTCTGGC	c.(136-141)gggctg>ggGGCTGCTGTAGCTCTGGCgctg	p.46_47GL>GAAVALAL	LCE4A_ENST00000335535.3_In_Frame_Ins_p.46_47GL>GAAVALAL			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	46	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTTG	0.579													7	104	---	---	---	---					
AC011747.6	0	broad.mit.edu	37	2	8743628	8743629	+	RNA	INS	-	-	A			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr2:8743628_8743629insA	ENST00000425678.1	-	0	439																											TTGTTTGTACTAAAAAAAAAAA	0.287													2	4	---	---	---	---					
PRELID1P1	728666	broad.mit.edu	37	6	126965225	126965226	+	RNA	INS	-	-	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr6:126965225_126965226insT	ENST00000567272.1	+	0	592_593																											GGAATTTGGACTTGCCGGTTCA	0.500													15	42	---	---	---	---					
ZNF800	168850	broad.mit.edu	37	7	127013740	127013740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr7:127013740delC	ENST00000393313.1	-	5	2241	c.1650delG	c.(1648-1650)ggfs	p.G550fs	ZNF800_ENST00000393312.1_Frame_Shift_Del_p.G550fs|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.G550fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTGTTATTTTCCCAAGATAAC	0.373													15	53	---	---	---	---					
HNF4G	3174	broad.mit.edu	37	8	76456080	76456081	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr8:76456080_76456081delAG	ENST00000396423.2	+	2	247_248	c.123_124delAG	c.(121-126)acacfs	p.TD41fs	HNF4G_ENST00000354370.1_Frame_Shift_Del_p.TD4fs	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	4					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAATACCACAGACAACGGTGT	0.436													14	58	---	---	---	---					
CD44	960	broad.mit.edu	37	11	35211532	35211532	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr11:35211532delA	ENST00000263398.6	+	5	1021	c.587delA	c.(586-588)tcfs	p.Y196fs	CD44_ENST00000449691.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000360158.4_Frame_Shift_Del_p.Y196fs|CD44_ENST00000434472.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000428726.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000526669.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000415148.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000433354.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000433892.2_Frame_Shift_Del_p.Y196fs|CD44_ENST00000352818.4_Frame_Shift_Del_p.Y196fs	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)	196					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)	TACATCTTTTACACCTTTTCT	0.502													13	47	---	---	---	---					
ZNF774	342132	broad.mit.edu	37	15	90903832	90903833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr15:90903832_90903833insT	ENST00000354377.3	+	4	955_956	c.769_770insT	c.(769-771)cacfs	p.H257fs	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAAGAACCCACACAGGCGAG	0.530													15	63	---	---	---	---					
VMO1	284013	broad.mit.edu	37	17	4688876	4688876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:4688876delG	ENST00000328739.5	-	3	469	c.390delC	c.(388-390)ccfs	p.P130fs	VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000354194.4_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	130					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CGAGGGTCGTGGGTGCCTCCA	0.647													9	26	---	---	---	---					
CRLF3	51379	broad.mit.edu	37	17	29131027	29131027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:29131027delG	ENST00000324238.6	-	2	353	c.229delC	c.(229-231)ttfs	p.L78fs	CRLF3_ENST00000544695.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	78					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTGCAAAAGGGTCACCAAT	0.448													9	115	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066607	58066608	+	RNA	INS	-	-	T			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr17:58066607_58066608insT	ENST00000586209.1	+	0	158																											TTTGATTGTGATTTTTTTTTTT	0.312													3	5	---	---	---	---					
UNC13A	23025	broad.mit.edu	37	19	17743603	17743604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:17743603_17743604insC	ENST00000428389.2	-	29	3678_3679	c.3679_3680insG	c.(3679-3681)tgafs	p.*1227fs	UNC13A_ENST00000252773.7_Frame_Shift_Ins_p.*1139fs|UNC13A_ENST00000552293.1_Frame_Shift_Ins_p.*1139fs|UNC13A_ENST00000551649.1_Frame_Shift_Ins_p.*1139fs|UNC13A_ENST00000550896.1_Frame_Shift_Ins_p.*1137fs|UNC13A_ENST00000519716.2_Frame_Shift_Ins_p.*1139fs			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1139	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGTACTCAGGCACGCGGTCC	0.535													8	48	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T	rs77187934		TCGA-86-A456-01A-11D-A24D-08	TCGA-86-A456-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b73cdb1-c3d3-49c8-b89e-cb028d53f51d	7e386b2d-a3e1-4c9c-b116-584bda452245	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)tttfs	p.F102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													2	4	---	---	---	---					
