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
HCP5	10866	broad.mit.edu	37	6	31431770	31431770	+	RNA	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:31431770A>G	ENST00000414046.2	+	0	842					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response			p.N109D(1)		urinary_tract(1)	1						catactgtccaattcccctgt	0.537000													53	76					0	0	0.139131	0	0
GPR135	64582	broad.mit.edu	37	14	59930507	59930507	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:59930507C>T	ENST00000395116.1	-	1	1553	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	480						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A480T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTGGTCACTGCCGTCACCGGC	0.547000													7	20					0	0	0.038147	0	0
SPEF2	79925	broad.mit.edu	37	5	35753786	35753786	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35753786C>T	ENST00000440995.2	+	24	3376	c.3376C>T	c.(3376-3378)Cgg>Tgg	p.R1126W	SPEF2_ENST00000356031.3_Missense_Mutation_p.R1131W|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1131					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R1131W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGCAGGAGCGGCTTGACAT	0.483000													10	377					0	0	0.132662	0	0
GPR112	139378	broad.mit.edu	37	X	135429691	135429691	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:135429691G>C	ENST00000394143.1	+	6	4117	c.3826G>C	c.(3826-3828)Gaa>Caa	p.E1276Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E1071Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E1276Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E1213Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E1071Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1276					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E1276Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGACAGAAATGTCCCC	0.438000													59	117					0	0	0.139131	0	0
EXO5	64789	broad.mit.edu	37	1	40981078	40981078	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40981078G>T	ENST00000372703.1	+	2	1936	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	EXO5_ENST00000296380.4_Missense_Mutation_p.D288Y|EXO5_ENST00000358527.2_Missense_Mutation_p.D288Y					exonuclease 5									p.D288Y(1)									CCCAGTTATTGATATCTTGAA	0.493000													16	362					1.01871e-10	1.12483e-10	0.049695	1	0
LCE1F	353137	broad.mit.edu	37	1	152749146	152749146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152749146C>G	ENST00000334371.2	+	1	299	c.299C>G	c.(298-300)tCa>tGa	p.S100*		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	100					keratinization			p.S100*(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGCCCTCAGCGGGCTCC	0.642000													6	47					0	0	0.038147	0	0
CUBN	8029	broad.mit.edu	37	10	16911847	16911847	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:16911847C>G	ENST00000377833.4	-	59	9307	c.9242G>C	c.(9241-9243)aGt>aCt	p.S3081T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3081	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.S3081T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAAAATCACTGAACCTGTG	0.413000													12	64					0	0	0.093190	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179292339	179292339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:179292339G>A	ENST00000356834.3	-	21	3024	c.2987C>T	c.(2986-2988)cCg>cTg	p.P996L	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P155L|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P979L|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P137L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	996						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.P996L(1)|p.P979L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATAGTCCGGAGAGCTGGT	0.537000													7	118					0	0	0.058154	0	0
TRRAP	8295	broad.mit.edu	37	7	98547739	98547739	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98547739G>C	ENST00000359863.4	+	37	5376	c.5167G>C	c.(5167-5169)Ggt>Cgt	p.G1723R	TRRAP_ENST00000446306.3_Missense_Mutation_p.G1704R|TRRAP_ENST00000355540.3_Missense_Mutation_p.G1705R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1723					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.G1705R(1)|p.G1723R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTTTACTGGTCGTTTTCT	0.413000													10	201					0	0	0.069234	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369424	86369424	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:86369424A>C	ENST00000400286.2	-	2	1818	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	407						integral to membrane		p.F407C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGGTTCATAAACGATCCTTC	0.338000													30	101					0	0	0.134883	0	0
TLR8	51311	broad.mit.edu	37	X	12939592	12939592	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:12939592G>A	ENST00000218032.6	+	2	2520	c.2433G>A	c.(2431-2433)ggG>ggA	p.G811G	TLR8_ENST00000311912.5_Silent_p.G829G	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	811	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.G829G(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATCAAAGAGGGAAGAGTATTG	0.418000													30	186					0	0	0.045705	0	0
MYO1D	4642	broad.mit.edu	37	17	31092057	31092057	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:31092057C>T	ENST00000318217.5	-	8	1178	c.874G>A	c.(874-876)Gag>Aag	p.E292K	MYO1D_ENST00000579584.1_Missense_Mutation_p.E292K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E292K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E204K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	292	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E292K(1)		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)			TTGCCATTCTCAATAAGAGGC	0.368000													7	350					0	0	0.038147	0	0
NUP43	348995	broad.mit.edu	37	6	150067104	150067104	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:150067104C>G	ENST00000340413.2	-	2	291	c.215G>C	c.(214-216)aGa>aCa	p.R72T	NUP43_ENST00000367404.4_Missense_Mutation_p.R72T|NUP43_ENST00000460354.2_Missense_Mutation_p.R72T|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367403.3_Missense_Mutation_p.R133T	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	72					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.R72T(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACCATGGTGTCTGATATCACA	0.368000													31	160					0	0	0.045705	0	0
BAHD1	22893	broad.mit.edu	37	15	40758317	40758317	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:40758317G>C	ENST00000561234.1	+	7	2587	c.2328G>C	c.(2326-2328)aaG>aaC	p.K776N	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000416165.1_Missense_Mutation_p.K777N|BAHD1_ENST00000560846.1_Missense_Mutation_p.K774N			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	777	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.K777N(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCATCCTTAAGAACCCCCAGT	0.627000													15	43					0	0	0.055883	0	0
C3orf35	339883	broad.mit.edu	37	3	37458815	37458815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:37458815G>C	ENST00000328376.5	+	5	1037	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	C3orf35_ENST00000426078.1_Missense_Mutation_p.E20Q|C3orf35_ENST00000425932.1_Missense_Mutation_p.E20Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	20						integral to membrane		p.E20Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCCAGAATTTGAAAATGTGAT	0.398000													7	116					0	0	0.029380	0	0
TARS2	80222	broad.mit.edu	37	1	150477198	150477198	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150477198C>T	ENST00000369064.3	+	15	1843	c.1809C>T	c.(1807-1809)tgC>tgT	p.C603C	TARS2_ENST00000369054.2_Silent_p.C473C|TARS2_ENST00000606933.1_Silent_p.C521C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAAT	0.567000													19	203					0	0	0.043863	0	0
TPO	7173	broad.mit.edu	37	2	1480894	1480894	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:1480894T>A	ENST00000345913.4	+	8	947	c.856T>A	c.(856-858)Tgt>Agt	p.C286S	TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.C286S|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.C286S|TPO_ENST00000329066.4_Missense_Mutation_p.C286S|TPO_ENST00000337415.3_Missense_Mutation_p.C286S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	286					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.C286S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGCACCGCCTGTCTGCCCTT	0.692000													4	7					0	0	0.029380	0	0
NRIP1	8204	broad.mit.edu	37	21	16338392	16338392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16338392C>A	ENST00000400202.1	-	3	2834	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E708*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E708*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	708					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.E708*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTACGTCTTTCAAGCAGATTT	0.403000													20	108					4.35082e-09	4.73012e-09	0.055883	1	0
ATP13A3	79572	broad.mit.edu	37	3	194176633	194176633	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:194176633G>C	ENST00000439040.1	-	8	1410	c.619C>G	c.(619-621)Cta>Gta	p.L207V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L207V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	207					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L207V(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTTTAATTAGAAGCTTAAAA	0.274000													7	197					0	0	0.047766	0	0
EML2	24139	broad.mit.edu	37	19	46117878	46117878	+	Missense_Mutation	SNP	C	C	G	rs35344004		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:46117878C>G	ENST00000536630.1	-	20	2257	c.2119G>C	c.(2119-2121)Ggg>Cgg	p.G707R	EML2_ENST00000587152.1_Missense_Mutation_p.G761R|EML2_ENST00000245925.3_Missense_Mutation_p.G560R|EML2_ENST00000589876.1_Missense_Mutation_p.G560R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	560					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.G560R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCCCAAACCCTAGGACACAA	0.542000													42	155					0	0	0.117977	0	0
SCNM1	79005	broad.mit.edu	37	1	151139670	151139670	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151139670G>C	ENST00000368905.4	+	4	396	c.285G>C	c.(283-285)ttG>ttC	p.L95F	SCNM1_ENST00000461862.1_3'UTR	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	95					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	p.L95F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAATGAATTGAGAAGGGAAG	0.483000													7	153					0	0	0.047766	0	0
CMC4	100272147	broad.mit.edu	37	X	154292253	154292253	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:154292253T>G	ENST00000369484.3	-	2	724	c.46A>C	c.(46-48)Aaa>Caa	p.K16Q	CMC4_ENST00000369479.1_Missense_Mutation_p.K16Q	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4									p.K16Q(1)									TGTAAACATTTCTGTATCTCA	0.299000													21	285					0	0	0.055883	0	0
SELRC1	65260	broad.mit.edu	37	1	53153747	53153747	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:53153747A>G	ENST00000371538.3	-	3	380	c.341T>C	c.(340-342)gTt>gCt	p.V114A	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	114							binding	p.V114A(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGGAGGCCAACGTTGTGACA	0.542000													5	98					0	0	0.014758	0	0
BDP1	55814	broad.mit.edu	37	5	70786810	70786810	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:70786810G>C	ENST00000358731.4	+	11	1755		c.e11-1		BDP1_ENST00000380675.2_Splice_Site	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.?(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTATTTGTAGATAAATGTCA	0.363000													12	42					0	0	0.093190	0	0
DAB1	1600	broad.mit.edu	37	1	57480743	57480743	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480743C>A	ENST00000371236.2	-	12	1520	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.Q333H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q417H|DAB1_ENST00000371234.4_Missense_Mutation_p.Q419H|DAB1_ENST00000414851.2_Missense_Mutation_p.Q401H|DAB1_ENST00000371231.1_Missense_Mutation_p.Q452H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	452					cell differentiation|nervous system development			p.Q419H(1)		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						GCTGGGCCATCTGGAAATCCT	0.597000													12	56					1.08611e-07	1.17178e-07	0.080935	1	0
CD200	4345	broad.mit.edu	37	3	112054854	112054854	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:112054854A>G	ENST00000473539.1	+	2	134	c.77A>G	c.(76-78)aAt>aGt	p.N26S	CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane		p.N26S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				ACCACCATCAATGATTACCAG	0.388000													33	68					0	0	0.054565	0	0
MCPH1	79648	broad.mit.edu	37	8	6312749	6312749	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:6312749G>C	ENST00000344683.5	+	9	1987	c.1911G>C	c.(1909-1911)ttG>ttC	p.L637F		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	637						microtubule organizing center		p.L637F(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGAGGAATTGAAGAAAAGTG	0.368000													24	106					0	0	0.069288	0	0
MAGEF1	64110	broad.mit.edu	37	3	184429334	184429334	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:184429334C>T	ENST00000317897.3	-	1	502	c.276G>A	c.(274-276)aaG>aaA	p.K92K		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	92	MAGE.							p.K92K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACTCTTCTTCTTGTCTTTCA	0.582000													5	176					0	0	0.021553	0	0
AXIN2	8313	broad.mit.edu	37	17	63532561	63532561	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:63532561G>T	ENST00000307078.5	-	8	2331	c.2018C>A	c.(2017-2019)aCc>aAc	p.T673N	AXIN2_ENST00000375702.5_Missense_Mutation_p.T608N	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	673					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.T673N(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCACGGGGGGTGGTGCGGGG	0.682000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				8	31					0.000274275	0.000283641	0.047766	1	0
MBTPS1	8720	broad.mit.edu	37	16	84135448	84135448	+	Translation_Start_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:84135448G>C	ENST00000343411.3	-	0	436					NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTCTTCTTGATTAAAAGTG	0.348000													7	35					0	0	0.029380	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162247	141162247	+	Silent	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:141162247T>G	ENST00000514251.1	+	4	1296	c.1017T>G	c.(1015-1017)ccT>ccG	p.P339P	ZBTB38_ENST00000441582.2_Silent_p.P339P|ZBTB38_ENST00000321464.5_Silent_p.P340P			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	339					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P339P(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGGTTCCACCTCTGGTGTACA	0.498000													7	137					0	0	0.047766	0	0
RGL2	5863	broad.mit.edu	37	6	33261395	33261395	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:33261395G>C	ENST00000497454.1	-	14	2085	c.1590C>G	c.(1588-1590)atC>atG	p.I530M	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	530					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.I530M(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TCCACTGCGAGATGACCAATG	0.572000													10	40					0	0	0.105934	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028199	21028199	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:21028199G>C	ENST00000381545.3	+	9	977	c.758G>C	c.(757-759)cGt>cCt	p.R253P	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R253P|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R253P|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R253P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	253					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.R253P(1)|p.R253L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGGACTCTCGTTGGGTTGGA	0.378000													42	272					0	0	0.111260	0	0
GBF1	8729	broad.mit.edu	37	10	104139673	104139673	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:104139673G>C	ENST00000369983.3	+	36	5097	c.4837G>C	c.(4837-4839)Gag>Cag	p.E1613Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1613					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.E1613Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGGTGGGATGGAGGAGACCCG	0.547000													6	32					0	0	0.029380	0	0
STRIP2	57464	broad.mit.edu	37	7	129110495	129110495	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:129110495C>G	ENST00000249344.2	+	18	1923	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*	STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628*	NM_020704.2	NP_065755.1			striatin interacting protein 2									p.S628*(1)									TACAGCATCTCAGTCCTGGAT	0.463000													4	42					0	0	0.009096	0	0
KIF15	56992	broad.mit.edu	37	3	44846547	44846547	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:44846547G>C	ENST00000326047.4	+	15	1865	c.1716G>C	c.(1714-1716)caG>caC	p.Q572H	KIF15_ENST00000425755.1_Missense_Mutation_p.Q207H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	572					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.Q572H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAAAGCTCAGAAAGAGCCAT	0.368000													15	59					0	0	0.146539	0	0
ZBP1	81030	broad.mit.edu	37	20	56186846	56186846	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:56186846C>G	ENST00000340462.4	-	5	1022	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ZBP1_ENST00000343535.4_Missense_Mutation_p.E271Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.E271Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.E196Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	271						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	p.E271Q(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGCCTCATCTCATTGCTGTGT	0.632000													5	20					0	0	0.014758	0	0
EZH1	2145	broad.mit.edu	37	17	40874816	40874816	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40874816C>G	ENST00000428826.2	-	6	605	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	EZH1_ENST00000415827.2_Missense_Mutation_p.E153Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E162Q|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000590078.1_Missense_Mutation_p.E92Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E122Q			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	162					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.E162Q(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCACTACCTTCTTCACCATGG	0.403000													3	95					0	0	0.115264	0	0
SKIL	6498	broad.mit.edu	37	3	170078501	170078501	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:170078501C>G	ENST00000458537.3	+	1	1091	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	SKIL_ENST00000426052.2_Missense_Mutation_p.Q108E|SKIL_ENST00000413427.2_Missense_Mutation_p.Q128E|SKIL_ENST00000259119.4_Missense_Mutation_p.Q128E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	128					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.Q128E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCCATCACCTCAGGTTCTTCC	0.488000													27	353					0	0	0.108266	0	0
ACTL9	284382	broad.mit.edu	37	19	8808755	8808755	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:8808755G>C	ENST00000324436.3	-	1	417	c.297C>G	c.(295-297)ggC>ggG	p.G99G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	99						cytoplasm|cytoskeleton		p.G99G(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCTGCCTCGCCGATGAACG	0.706000													3	18					0	0	0.115264	0	0
WDR24	84219	broad.mit.edu	37	16	737292	737292	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:737292C>T	ENST00000293883.4	-	3	1543	c.784G>A	c.(784-786)Gag>Aag	p.E262K	WDR24_ENST00000248142.6_Missense_Mutation_p.E392K	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	348								p.E262K(1)|p.E392K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGGCGGCACTCTGGCCGCCAC	0.617000													4	15					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152281252	152281252	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152281252C>T	ENST00000368799.1	-	3	6145	c.6110G>A	c.(6109-6111)cGa>cAa	p.R2037Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2037	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2037Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTACCCTCGGTGTCCACT	0.557000									Ichthyosis				27	1202					0	0	0.055883	0	0
MCTS1	28985	broad.mit.edu	37	X	119742109	119742109	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:119742109G>C	ENST00000371315.3	+	4	828	c.295G>C	c.(295-297)Gat>Cat	p.D99H	MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.D98H	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	98	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	p.D98H(1)|p.D99H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						CCAGCAGGTTGATAAAGGAGC	0.383000													12	101					0	0	0.093190	0	0
ICA1L	130026	broad.mit.edu	37	2	203650667	203650667	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203650667G>C	ENST00000392237.2	-	13	1464	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S436*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	436								p.S436*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGACTCTGTGAAGGCACTGG	0.323000													14	74					0	0	0.033300	0	0
RYR1	6261	broad.mit.edu	37	19	39063871	39063871	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:39063871G>C	ENST00000355481.4	+	95	14169	c.14038G>C	c.(14038-14040)Gat>Cat	p.D4680H	RYR1_ENST00000360985.3_Missense_Mutation_p.D4680H|RYR1_ENST00000359596.3_Missense_Mutation_p.D4685H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4685					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D4685H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGAGTTTGATGGCCTGTA	0.617000													5	92					0	0	0.014758	0	0
FLG	2312	broad.mit.edu	37	1	152287037	152287037	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152287037T>C	ENST00000368799.1	-	3	360	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	109					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K109E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTTATCATGATGA	0.358000									Ichthyosis				15	253					0	0	0.119110	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784748	30784748	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:30784748G>C	ENST00000246229.4	-	3	1262	c.998C>G	c.(997-999)tCt>tGt	p.S333C		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	333						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S333C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTGGGGAAGAGATAGGTGA	0.562000													5	227					0	0	0.021553	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567619	45567619	+	RNA	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:45567619G>A	ENST00000256692.5	-	0	1066					NR_037144.1													p.S177L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGCAACTTGAGTCTGATCC	0.388000													7	182					0	0	0.047766	0	0
C5	727	broad.mit.edu	37	9	123716141	123716141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:123716141C>T	ENST00000223642.1	-	40	4797	c.4768G>A	c.(4768-4770)Gct>Act	p.A1590T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1590	NTR.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.A1590T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAGCAACAGCTTCCCCTGAG	0.383000													21	100					0	0	0.076483	0	0
GARS	2617	broad.mit.edu	37	7	30673444	30673444	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:30673444G>C	ENST00000389266.3	+	17	2429	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	730					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E730Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TGAAGGGCAAGAGACTGGTAA	0.428000													12	55					0	0	0.105934	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506306	178506306	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:178506306G>C	ENST00000315475.6	+	5	1179	c.873G>C	c.(871-873)ctG>ctC	p.L291L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L291L(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAAACATCTGAGAGTGCATA	0.418000													62	97					0	0	0.139131	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705450	41705450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:41705450G>A	ENST00000379485.1	-	1	1432	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	KBTBD6_ENST00000499385.2_Nonsense_Mutation_p.Q334*	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	400							protein binding	p.Q400*(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTCCTGGGCTGAGCAGCTAGA	0.502000													34	156					0	0	0.069456	0	0
RBPJL	11317	broad.mit.edu	37	20	43943062	43943062	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:43943062A>G	ENST00000343694.3	+	9	949	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	RBPJL_ENST00000372741.3_Missense_Mutation_p.K293E|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.K293E	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	293					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K293E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GATCATCCGTAAAGTAGCAAA	0.577000													4	163					0	0	0.009096	0	0
VASH1	22846	broad.mit.edu	37	14	77242312	77242312	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:77242312G>A	ENST00000167106.4	+	5	1241	c.608G>A	c.(607-609)cGc>cAc	p.R203H	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	203					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		p.R203>?(1)|p.R203H(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AACTACTTCCGCCACATCGTG	0.632000													3	7					0	0	0.115264	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261766	134261766	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:134261766A>G	ENST00000457545.2	+	10	1137	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	AKR1B15_ENST00000423958.1_Missense_Mutation_p.M265V	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	293							oxidoreductase activity	p.M311V(1)|p.M293V(1)|p.M265V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CCCCAAGTCTATGACACCAGC	0.517000													5	120					0	0	0.021553	0	0
DAW1	164781	broad.mit.edu	37	2	228754637	228754637	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:228754637C>T	ENST00000373666.2	+	3	815	c.179C>T	c.(178-180)aCa>aTa	p.T60I	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000309931.2_Missense_Mutation_p.T60I|DAW1_ENST00000545118.1_Missense_Mutation_p.T45I					dynein assembly factor with WDR repeat domains 1									p.T60I(1)									GCTTCACGAACAGAGCAAGTC	0.383000													14	56					0	0	0.105934	0	0
EID2	163126	broad.mit.edu	37	19	40030087	40030087	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40030087C>T	ENST00000390658.2	-	1	783	c.633G>A	c.(631-633)acG>acA	p.T211T		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	211					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	p.T211T(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCAGAGCTATCGTAAAGGTTA	0.448000													6	230					0	0	0.021553	0	0
C19orf47	126526	broad.mit.edu	37	19	40842021	40842021	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40842021C>G	ENST00000582783.1	-	4	341	c.329G>C	c.(328-330)cGt>cCt	p.R110P	C19orf47_ENST00000392035.2_Missense_Mutation_p.R43P	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	110								p.R43P(1)|p.R110P(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCCACCTGACGGTGCACCAC	0.587000													3	89					0	0	0.115264	0	0
CLN8	2055	broad.mit.edu	37	8	1728460	1728460	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:1728460G>A	ENST00000331222.4	+	3	835	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	196	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.L196L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACCAGTGGCTGATGATTCACA	0.517000													19	54					0	0	0.043863	0	0
TMEM54	113452	broad.mit.edu	37	1	33363895	33363895	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:33363895C>G	ENST00000373463.3	-	2	161	c.42G>C	c.(40-42)cgG>cgC	p.R14R	TMEM54_ENST00000329151.5_Silent_p.R14R|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	14						integral to membrane		p.R14R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGCACCTTCCGGAAGTCGC	0.632000													7	45					0	0	0.029380	0	0
AFF1	4299	broad.mit.edu	37	4	88012958	88012958	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:88012958T>A	ENST00000307808.6	+	6	1604	c.1184T>A	c.(1183-1185)gTc>gAc	p.V395D	AFF1_ENST00000544085.1_Missense_Mutation_p.V33D|AFF1_ENST00000395146.4_Missense_Mutation_p.V402D	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	395						nucleus	sequence-specific DNA binding transcription factor activity	p.V402D(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCTCAGCATGTCAGTTCTGTA	0.284000													6	9					0	0	0.021553	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44216498	44216498	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:44216498C>G	ENST00000371554.1	+	2	346	c.132C>G	c.(130-132)atC>atG	p.I44M	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I44M|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I44M			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	44					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.I44M(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAGTTGATCTCTAATGCTT	0.433000													12	363					0	0	0.105934	0	0
KAT6B	23522	broad.mit.edu	37	10	76781861	76781861	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:76781861G>C	ENST00000287239.4	+	16	3733	c.3244G>C	c.(3244-3246)Gaa>Caa	p.E1082Q	KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E899Q|KAT6B_ENST00000372725.1_Missense_Mutation_p.E790Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1082	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.E1082Q(1)									ggaggaggaagaagaggagga	0.522000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67					0	0	0.115264	0	0
BRF1	2972	broad.mit.edu	37	14	105707692	105707692	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:105707692C>T	ENST00000546474.1	-	6	15563	c.604G>A	c.(604-606)Gag>Aag	p.E202K	BRF1_ENST00000379937.2_Missense_Mutation_p.E175K|BRF1_ENST00000440513.3_Missense_Mutation_p.E87K|BRF1_ENST00000327359.3_Missense_Mutation_p.E87K|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	202					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.E202K(1)|p.E87K(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATGGACACCTCGTGGTTCTTC	0.637000													16	41					0	0	0.146539	0	0
PAIP1	10605	broad.mit.edu	37	5	43547975	43547975	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:43547975G>C	ENST00000306846.3	-	3	708	c.476C>G	c.(475-477)tCa>tGa	p.S159*	PAIP1_ENST00000436644.2_Nonsense_Mutation_p.S80*|PAIP1_ENST00000338972.4_Nonsense_Mutation_p.S47*|PAIP1_ENST00000514514.1_Nonsense_Mutation_p.S80*	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	159	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	p.S159*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACATATTCTGATAGAGTAGG	0.368000													14	175					0	0	0.132662	0	0
SCYL3	57147	broad.mit.edu	37	1	169847899	169847899	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:169847899T>A	ENST00000367771.6	-	3	441	c.227A>T	c.(226-228)gAt>gTt	p.D76V	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.D76V|SCYL3_ENST00000367770.1_Missense_Mutation_p.D76V	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.D76V(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGAATGCCATCCGCTTCCAC	0.443000													54	193					0	0	0.139131	0	0
MYO6	4646	broad.mit.edu	37	6	76623906	76623906	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:76623906A>C	ENST00000369981.3	+	34	3848	c.3569A>C	c.(3568-3570)aAa>aCa	p.K1190T	MYO6_ENST00000369975.1_Missense_Mutation_p.K1157T|MYO6_ENST00000369977.3_Missense_Mutation_p.K1189T|MYO6_ENST00000369985.4_Missense_Mutation_p.K1166T			Q9UM54	MYO6_HUMAN	myosin VI	1198					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K1189T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAGTAAGAAAAAAGGCTGG	0.532000													15	176					0	0	0.132662	0	0
CFHR3	10878	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:196749062C>T	ENST00000471440.2	+	3	463	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M|CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M					complement factor H-related 3									p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473000													4	74					0	0	0.009096	0	0
ALMS1	7840	broad.mit.edu	37	2	73677492	73677492	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:73677492G>A	ENST00000264448.6	+	8	3946	c.3835G>A	c.(3835-3837)Gct>Act	p.A1279T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1279	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.A1279T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAGCTGTAACCTC	0.433000													4	141					0	0	0.014758	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18487256	18487256	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:18487256G>A	ENST00000280706.2	+	3	1114	c.317G>A	c.(316-318)cGc>cAc	p.R106H	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R106H	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	106					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.R106H(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GGAGAAACACGCCTTGATTTA	0.388000													10	124					0	0	0.058154	0	0
TBX3	6926	broad.mit.edu	37	12	115115443	115115443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:115115443C>G	ENST00000349155.2	-	4	1786	c.823G>C	c.(823-825)Gac>Cac	p.D275H	TBX3_ENST00000257566.3_Missense_Mutation_p.D295H	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	295					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.D295H(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGGTTGTTGTCTATTTTTAAC	0.358000													16	125					0	0	0.038395	0	0
ALDH9A1	223	broad.mit.edu	37	1	165649774	165649774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:165649774G>A	ENST00000354775.4	-	5	1043	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.P153S	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	223					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.P247S(1)|p.P223S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	GCCACATCGGGATGCTGACAC	0.532000													39	186					0	0	0.086207	0	0
MRPL35	51318	broad.mit.edu	37	2	86437695	86437695	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:86437695C>T	ENST00000337109.4	+	4	505	c.471C>T	c.(469-471)ctC>ctT	p.L157L	MRPL35_ENST00000409180.1_Silent_p.L157L|MRPL35_ENST00000254644.8_Silent_p.L157L|MRPL35_ENST00000605125.1_3'UTR	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	157					translation	mitochondrial ribosome	structural constituent of ribosome	p.L157L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGAGTAAACTCTTAGATAAAA	0.388000													10	104					0	0	0.058154	0	0
C8orf74	203076	broad.mit.edu	37	8	10555323	10555323	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:10555323G>A	ENST00000304519.5	+	3	485	c.456G>A	c.(454-456)ccG>ccA	p.P152P	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	152								p.P152P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ATCCCCTCCCGCTGGCCGAGG	0.652000													17	36					0	0	0.049695	0	0
TRPS1	7227	broad.mit.edu	37	8	116599614	116599614	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:116599614G>C	ENST00000395715.3	-	5	2891	c.2314C>G	c.(2314-2316)Cca>Gca	p.P772A	TRPS1_ENST00000519674.1_Missense_Mutation_p.P759A|TRPS1_ENST00000519076.1_Missense_Mutation_p.P513A|TRPS1_ENST00000520276.1_Missense_Mutation_p.P763A|TRPS1_ENST00000220888.5_Missense_Mutation_p.P759A	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	759	Mediates interaction with GLI3.				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	p.P772A(1)|p.P759A(1)		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)			TCAGAAACTGGCTCTCCCATT	0.493000									Langer-Giedion syndrome				35	439					0	0	0.074837	0	0
TAP2	6891	broad.mit.edu	37	6	32800587	32800587	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32800587C>A	ENST00000374897.2	-	6	1091	c.960G>T	c.(958-960)gaG>gaT	p.E320D	TAP2_ENST00000452392.2_Missense_Mutation_p.E320D|TAP2_ENST00000374899.4_Missense_Mutation_p.E320D	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	320	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.E320D(2)									CATCCTGGATCTCCCGAAGCA	0.612000													7	33					0.00448238	0.00456858	0.047766	1	0
ZC3H7A	29066	broad.mit.edu	37	16	11855265	11855265	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:11855265A>G	ENST00000396516.2	-	18	2513	c.2316T>C	c.(2314-2316)ttT>ttC	p.F772F	ZC3H7A_ENST00000355758.4_Silent_p.F772F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	772						nucleus	nucleic acid binding|zinc ion binding	p.F772F(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TATGTACATCAAACTGTAAAG	0.363000													22	197					0	0	0.083992	0	0
FOXP2	93986	broad.mit.edu	37	7	114299626	114299626	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:114299626G>C	ENST00000393500.3	+	20	2295		c.e20-1		FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding	p.?(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCTCATTTCAGGCTATCATGG	0.363000													14	130					0	0	0.132662	0	0
ZNF816	125893	broad.mit.edu	37	19	53454831	53454831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:53454831G>C	ENST00000357666.4	-	5	497	c.197C>G	c.(196-198)tCt>tGt	p.S66C	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.S66C|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S66C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGATTTTAAAGAGCTATCTAA	0.333000													41	86					0	0	0.092188	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756546	56756546	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:56756546C>G	ENST00000326855.2	+	1	200	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AACACAGATTCCAGATTTCAA	0.378000													79	57					0	0	0.139131	0	0
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L|LILRA5_ENST00000346508.3_Splice_Site_p.L29L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response	extracellular region|integral to membrane	receptor activity	p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602000													24	19					0	0	0.083992	0	0
NLRP7	199713	broad.mit.edu	37	19	55451137	55451137	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:55451137C>T	ENST00000588756.1	-	6	1536	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	NLRP7_ENST00000328092.5_Missense_Mutation_p.M350I|NLRP7_ENST00000340844.2_Missense_Mutation_p.M350I|NLRP7_ENST00000448121.2_Missense_Mutation_p.M350I|NLRP7_ENST00000590030.1_Missense_Mutation_p.M350I|NLRP7_ENST00000446217.1_Missense_Mutation_p.M378I|NLRP7_ENST00000592784.1_Missense_Mutation_p.M350I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	350	NACHT.						ATP binding	p.M350I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGTTGCTCCTCATTAGCTCAA	0.612000													4	48					0	0	0.009096	0	0
ABCB4	5244	broad.mit.edu	37	7	87032471	87032471	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:87032471G>C	ENST00000265723.4	-	27	3745	c.3634C>G	c.(3634-3636)Ctg>Gtg	p.L1212V	ABCB4_ENST00000358400.3_Missense_Mutation_p.L1158V|ABCB4_ENST00000545634.1_Missense_Mutation_p.L1205V|ABCB4_ENST00000453593.1_Missense_Mutation_p.L1158V|ABCB4_ENST00000359206.3_Missense_Mutation_p.L1205V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1212	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.L1205V(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCAGTATCCAGAGCTGATGTA	0.433000													39	233					0	0	0.080422	0	0
GSG1	83445	broad.mit.edu	37	12	13256440	13256440	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:13256440C>G	ENST00000324458.8	-	1	179	c.7G>C	c.(7-9)Gat>Cat	p.D3H	GSG1_ENST00000432710.2_Missense_Mutation_p.D3H|GSG1_ENST00000351606.6_Missense_Mutation_p.D3H	NM_001080555.2	NP_001074024.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane		p.D3H(2)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGAGAGGGATCGCTCATTCAC	0.428000													26	232					0	0	0.108266	0	0
BCL9L	283149	broad.mit.edu	37	11	118771774	118771774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:118771774G>A	ENST00000334801.3	-	6	3642	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	893	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.P893L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGACGCAGGGGGCAGAGGCAT	0.602000													19	16					0	0	0.076483	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762701	130762701	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130762701C>G	ENST00000392429.1	+	2	3512	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A	TMEM200A_ENST00000545622.1_Silent_p.A378A|TMEM200A_ENST00000296978.3_Silent_p.A378A	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	378						integral to membrane		p.A378A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGGGCTGCCAGAAGACAGT	0.522000													13	74					0	0	0.105934	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120033	55120033	+	Missense_Mutation	SNP	C	C	T	rs141639071	by1000genomes	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:55120033C>T	ENST00000370862.3	+	3	838	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACAGCAAAGCGGGCCCGTAA	0.517000													5	72					0	0	0.021553	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105495508	105495508	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:105495508G>T	ENST00000369774.4	-	4	564	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SH3PXD2A_ENST00000355946.2_Silent_p.P96P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	96	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.P96P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATTCATCGATGGGCTTCAGTC	0.582000													25	112					4.67007e-22	5.23838e-22	0.104719	1	0
INTS3	65123	broad.mit.edu	37	1	153724860	153724860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:153724860C>T	ENST00000456435.1	+	8	1403	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Nonsense_Mutation_p.Q279*|INTS3_ENST00000435409.2_Nonsense_Mutation_p.Q279*|INTS3_ENST00000512605.1_Nonsense_Mutation_p.Q73*			Q68E01	INT3_HUMAN	integrator complex subunit 3	280					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.Q279*(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATAATCCTCAGGCCTTGAG	0.433000													17	470					0	0	0.038395	0	0
SV2A	9900	broad.mit.edu	37	1	149879685	149879685	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:149879685T>C	ENST00000369146.3	-	9	1943	c.1453A>G	c.(1453-1455)Aaa>Gaa	p.K485E	SV2A_ENST00000369145.1_Missense_Mutation_p.K485E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	485					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.K485E(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAACACTTTGGTGCGGGAT	0.527000													50	168					0	0	0.139131	0	0
KLF5	688	broad.mit.edu	37	13	73636553	73636553	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:73636553G>A	ENST00000377687.4	+	2	1352	c.816G>A	c.(814-816)caG>caA	p.Q272Q	KLF5_ENST00000539231.1_Silent_p.Q181Q|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	272					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.Q272Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTGTTCCGCAGACTGCAGTGA	0.502000													21	93					0	0	0.049695	0	0
FAM65A	79567	broad.mit.edu	37	16	67578917	67578917	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67578917G>T	ENST00000540839.3	+	18	3205	c.2985G>T	c.(2983-2985)gaG>gaT	p.E995D	FAM65A_ENST00000422602.2_Missense_Mutation_p.E996D|FAM65A_ENST00000042381.4_Missense_Mutation_p.E976D|FAM65A_ENST00000428437.2_Missense_Mutation_p.E990D|FAM65A_ENST00000379312.3_Missense_Mutation_p.E980D			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	980						cytoplasm	binding	p.E976D(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGTGCACAGAGAGACTCAGCT	0.642000													10	272					2.27111e-07	2.43169e-07	0.093190	1	0
NRXN2	9379	broad.mit.edu	37	11	64427940	64427940	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64427940C>T	ENST00000265459.6	-	11	2714	c.2253G>A	c.(2251-2253)acG>acA	p.T751T	NRXN2_ENST00000409571.1_Silent_p.T744T|NRXN2_ENST00000377559.3_Silent_p.T720T|NRXN2_ENST00000377551.1_Silent_p.T751T	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	751	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding	p.T751T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCTGCCTCCGTGTGCATGG	0.602000													5	35					0	0	0.014758	0	0
GPR101	83550	broad.mit.edu	37	X	136112838	136112838	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:136112838C>A	ENST00000298110.1	-	1	995	c.996G>T	c.(994-996)atG>atT	p.M332I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	332						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M332I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGCCTTCATGCTGTTCT	0.557000													46	304					4.44401e-20	4.97167e-20	0.117977	1	0
OR6S1	341799	broad.mit.edu	37	14	21108987	21108987	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:21108987C>G	ENST00000320704.3	-	1	863	c.864G>C	c.(862-864)ttG>ttC	p.L288F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L288F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGAATGGATTCAACAGTGGTG	0.443000													6	238					0	0	0.021553	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870004	151870004	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:151870004G>C	ENST00000329342.5	+	3	919	c.694G>C	c.(694-696)Gag>Cag	p.E232Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	232	MAGE.						protein binding	p.E232Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGTTTGAGGGGAGGGA	0.537000													76	203					0	0	0.139131	0	0
NEK5	341676	broad.mit.edu	37	13	52667254	52667254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:52667254G>C	ENST00000355568.4	-	13	1283	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	382							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.Q382*(1)|p.Q439*(1)|p.Q439E(1)|p.Q382E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTATTTTCTTGAGGAATAGGG	0.418000													44	126					0	0	0.111260	0	0
HDAC9	9734	broad.mit.edu	37	7	18975441	18975441	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:18975441A>T	ENST00000406451.4	+	23	2954	c.2804A>T	c.(2803-2805)cAt>cTt	p.H935L	HDAC9_ENST00000441542.2_Missense_Mutation_p.H938L|HDAC9_ENST00000432645.2_Missense_Mutation_p.H935L|HDAC9_ENST00000401921.1_Missense_Mutation_p.H894L	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.H938L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTTTTGGTCATTTGACGAAG	0.393000													60	112					0	0	0.139131	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773576	35773576	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35773576C>G	ENST00000360215.1	+	1	506	c.129C>G	c.(127-129)ctC>ctG	p.L43L	LHFPL5_ENST00000373853.1_Silent_p.L43L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	43						integral to membrane		p.L43L(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATGGCCCTCTTCATCCAGC	0.592000													35	115					0	0	0.092188	0	0
NKTR	4820	broad.mit.edu	37	3	42679619	42679619	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:42679619C>T	ENST00000232978.8	+	13	2611	c.2423C>T	c.(2422-2424)tCt>tTt	p.S808F	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	808	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S808F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTAGATTATTCTTCAGACAGT	0.408000													17	78					0	0	0.038395	0	0
ZNF827	152485	broad.mit.edu	37	4	146686170	146686170	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:146686170T>G	ENST00000508784.1	-	13	3427	c.3200A>C	c.(3199-3201)aAa>aCa	p.K1067T	ZNF827_ENST00000379448.4_Missense_Mutation_p.K1067T|ZNF827_ENST00000513320.1_Missense_Mutation_p.K717T			Q17R98	ZN827_HUMAN	zinc finger protein 827	1067					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K1067T(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGTGTGGCATTTCTTATGCTC	0.498000													5	133					0	0	0.029380	0	0
A2M	2	broad.mit.edu	37	12	9268390	9268390	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:9268390A>G	ENST00000318602.7	-	1	363	c.56T>C	c.(55-57)cTg>cCg	p.L19P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	19					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.L19P(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GTCTGTGGGCAGGAGGACCAA	0.468000													13	91					0	0	0.093190	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652284	36652284	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:36652284G>C	ENST00000405375.1	+	2	641	c.406G>C	c.(406-408)Gac>Cac	p.D136H	CDKN1A_ENST00000373711.2_Missense_Mutation_p.D136H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D170H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D136H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	136					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.D136H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGGACCTGGAGACTCTCAGGG	0.587000													4	33					0	0	0.009096	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474198	44474198	+	Silent	SNP	C	C	T	rs144161106		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:44474198C>T	ENST00000372310.3	-	5	582	c.417G>A	c.(415-417)acG>acA	p.T139T	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_Silent_p.T74T|SLC6A9_ENST00000357730.2_Silent_p.T158T|SLC6A9_ENST00000475075.2_Silent_p.T28T|SLC6A9_ENST00000372306.3_Silent_p.T139T|SLC6A9_ENST00000537678.1_Silent_p.T74T|SLC6A9_ENST00000360584.2_Silent_p.T212T	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	212						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.T212T(1)|p.T139T(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCAGCACGTGCGTCATGGACG	0.572000													4	114					0	0	0.009096	0	0
LPIN1	23175	broad.mit.edu	37	2	11944642	11944642	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:11944642C>G	ENST00000256720.2	+	15	2092	c.1999C>G	c.(1999-2001)Ctg>Gtg	p.L667V	LPIN1_ENST00000396099.1_Missense_Mutation_p.L709V|LPIN1_ENST00000449576.2_Missense_Mutation_p.L752V|LPIN1_ENST00000404113.2_Missense_Mutation_p.L168V|LPIN1_ENST00000396097.1_Missense_Mutation_p.L397V|LPIN1_ENST00000425416.2_Missense_Mutation_p.L673V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	667	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.L667V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CACCATCTATCTGTGGAACTG	0.478000													11	103					0	0	0.080935	0	0
BRIP1	83990	broad.mit.edu	37	17	59853848	59853848	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59853848C>G	ENST00000259008.2	-	14	2278	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.E671Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	671					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.E671Q(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTTGGAACTCAAATGTTTCA	0.418000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					8	192					0	0	0.038147	0	0
OR11L1	391189	broad.mit.edu	37	1	248004359	248004359	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248004359C>A	ENST00000355784.2	-	1	895	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGTGTGACCACAGTGTAGA	0.443000													23	65					1.9806e-07	2.13141e-07	0.069288	1	0
XPC	7508	broad.mit.edu	37	3	14212042	14212042	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:14212042G>T	ENST00000285021.7	-	3	522	c.308C>A	c.(307-309)cCa>cAa	p.P103Q	XPC_ENST00000449060.2_Missense_Mutation_p.P103Q	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	103	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.P103Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTCACTTGGAAAGTCCCT	0.423000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	178					0.000151284	0.000157603	0.105934	1	0
NDC80	10403	broad.mit.edu	37	18	2599084	2599084	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:2599084G>C	ENST00000261597.4	+	12	1470	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	430	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.E430Q(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TAAAGGTGCTGAGAATTCCAA	0.353000													12	78					0	0	0.080935	0	0
AK8	158067	broad.mit.edu	37	9	135702366	135702366	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135702366G>C	ENST00000298545.3	-	8	1153	c.632C>G	c.(631-633)tCa>tGa	p.S211*	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	211						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.S211*(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CTCCAGCTCTGAGATGTCCTC	0.502000													5	287					0	0	0.021553	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18075495	18075495	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:18075495G>C	ENST00000253413.5	-	9	808	c.626C>G	c.(625-627)cCa>cGa	p.P209R	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.P187R|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.P179R	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	209					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism	p.P209R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CCGGACTTCTGGCATCATCTG	0.453000													25	84					0	0	0.108266	0	0
SVEP1	79987	broad.mit.edu	37	9	113198707	113198707	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:113198707A>T	ENST00000401783.2	-	28	5053	c.4717T>A	c.(4717-4719)Tcc>Acc	p.S1573T	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1550T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1573	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.S1576T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCTTATGGAGCCCACAAAA	0.473000													4	104					0	0	0.009096	0	0
CNTN1	1272	broad.mit.edu	37	12	41337797	41337797	+	Splice_Site	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:41337797A>G	ENST00000551295.2	+	14	1625	c.1508A>G	c.(1507-1509)gAt>gGt	p.D503G	CNTN1_ENST00000348761.2_Splice_Site_p.D492G|CNTN1_ENST00000360099.3_Splice_Site_p.D503G|CNTN1_ENST00000547702.1_Splice_Site_p.D503G|CNTN1_ENST00000547849.1_Splice_Site_p.D503G|CNTN1_ENST00000347616.1_Splice_Site_p.D503G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	503					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.D503G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAATATATAGATCCTACGCGA	0.338000													11	60					0	0	0.105934	0	0
DFNB31	25861	broad.mit.edu	37	9	117240927	117240927	+	Missense_Mutation	SNP	G	G	A	rs141863996		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:117240927G>A	ENST00000362057.3	-	2	911	c.743C>T	c.(742-744)tCg>tTg	p.S248L	DFNB31_ENST00000374057.3_Missense_Mutation_p.S248L|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	248					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.S248L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCAGGCCCGAGGGTGGGGA	0.662000													7	11					0	0	0.069234	0	0
TCTN3	26123	broad.mit.edu	37	10	97446269	97446269	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97446269C>G	ENST00000265993.9	-	7	1114	c.925G>C	c.(925-927)Gat>Cat	p.D309H	TCTN3_ENST00000430368.2_Missense_Mutation_p.D212H|TCTN3_ENST00000371209.5_Missense_Mutation_p.D291H|TCTN3_ENST00000371217.5_Missense_Mutation_p.D291H	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3						apoptosis	integral to membrane		p.D291H(2)|p.D140H(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TTCTGTGGATCAGTCATGCTT	0.398000													14	155					0	0	0.119110	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827597	14827597	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:14827597G>T	ENST00000261170.3	-	8	1182	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	349					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.P349H(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCAAATTTGGGGGTGGTAAT	0.388000													10	189					9.70103e-10	1.06285e-09	0.069234	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110412320	110412320	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:110412320A>G	ENST00000378402.5	+	13	1132	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	343	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.K345R(1)		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)			AGAGGCCTGAAGCTTGAGGTG	0.408000										HNSCC(38;0.096)			6	172					0	0	0.021553	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029620	193029620	+	Silent	SNP	G	G	A	rs112958471		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:193029620G>A	ENST00000342358.4	-	20	2547	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	810					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.N810N(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGCAAGCTGTTGAAATGCT	0.423000													13	79					0	0	0.105934	0	0
UBR1	197131	broad.mit.edu	37	15	43339472	43339472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:43339472G>A	ENST00000290650.4	-	14	1633	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R519*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	519					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.R519*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTGTCTTCGGATTTCTTCC	0.423000													9	234					0	0	0.058154	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141091	143141091	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:143141091C>T	ENST00000332690.1	+	1	546	c.546C>T	c.(544-546)ggC>ggT	p.G182G	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	182					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.G182G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATGTCACTGGCGATAGCATAC	0.408000													11	226					0	0	0.069234	0	0
PBXIP1	57326	broad.mit.edu	37	1	154924271	154924271	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:154924271C>T	ENST00000368463.3	-	3	249	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368460.3_Splice_Site_p.G60R|PBXIP1_ENST00000368465.1_Splice_Site_p.G31R|PBXIP1_ENST00000498553.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	60					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.G60R(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCAGTACCTTCTCCATCC	0.522000													12	457					0	0	0.080935	0	0
C17orf62	79415	broad.mit.edu	37	17	80403819	80403819	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:80403819C>G	ENST00000437807.2	-	6	536	c.219G>C	c.(217-219)aaG>aaC	p.K73N	C17orf62_ENST00000306645.5_Missense_Mutation_p.K73N|C17orf62_ENST00000585080.1_Missense_Mutation_p.K73N|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.K73N|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.K73N|C17orf62_ENST00000578919.1_Missense_Mutation_p.K73N|C17orf62_ENST00000577436.1_Missense_Mutation_p.K59N|C17orf62_ENST00000577732.1_Missense_Mutation_p.K73N|C17orf62_ENST00000434650.2_Missense_Mutation_p.K59N|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000583617.1_Missense_Mutation_p.K73N	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	73						integral to membrane	protein binding	p.K73N(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCCTGTGCTCTTGTCGAAGA	0.607000													3	34					0	0	0.115264	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860591	34860591	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:34860591C>G	ENST00000314399.3	-	2	1548	c.1110G>C	c.(1108-1110)aaG>aaC	p.K370N	DNAJC28_ENST00000402202.1_Missense_Mutation_p.K370N|DNAJC28_ENST00000381947.3_Missense_Mutation_p.K370N	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	370				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding	p.K370N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AAAAACCTTTCTTGATTTCAG	0.318000													20	94					0	0	0.055883	0	0
JAM2	58494	broad.mit.edu	37	21	27062211	27062211	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:27062211C>A	ENST00000480456.1	+	3	717	c.167C>A	c.(166-168)aCt>aAt	p.T56N	JAM2_ENST00000312957.5_Missense_Mutation_p.T56N|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.T56N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	56	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.T56N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCAAAGAAGACTGTTTCCTCC	0.393000													16	211					2.35188e-11	2.60365e-11	0.038395	1	0
PTPRG	5793	broad.mit.edu	37	3	62267314	62267314	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:62267314G>A	ENST00000474889.1	+	27	4219	c.3842G>A	c.(3841-3843)aGc>aAc	p.S1281N	PTPRG_ENST00000295874.10_Missense_Mutation_p.S1252N|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1281	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1281N(1)		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)		ACCCTTATCAGCAAAGACAGA	0.403000													4	93					0	0	0.009096	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116785	75116785	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:75116785C>G	ENST00000309664.5	+	13	1556	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	LMAN1L_ENST00000379709.3_Missense_Mutation_p.Q461E|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	473						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.Q473E(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCTCATTCAGACTGTAGG	0.597000													7	122					0	0	0.038147	0	0
APOL1	8542	broad.mit.edu	37	22	36661303	36661303	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:36661303C>T	ENST00000319136.4	+	7	736	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397278.3_Silent_p.L141L|APOL1_ENST00000397279.4_Silent_p.L141L|APOL1_ENST00000426053.1_Silent_p.L123L|APOL1_ENST00000347595.7_Silent_p.L20L|APOL1_ENST00000422706.1_Silent_p.L141L	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	141					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.L157L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAACTGGTTTCTGAAAGAGTT	0.473000													16	82					0	0	0.146539	0	0
FAM166A	401565	broad.mit.edu	37	9	140139944	140139944	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139944C>G	ENST00000344774.4	-	3	391	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	FAM166A_ENST00000388932.2_Missense_Mutation_p.E113Q	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	113								p.E113Q(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGGCGGCTCCTGGGCGTCC	0.627000													14	91					0	0	0.146539	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613579	14613579	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:14613579G>T	ENST00000544627.1	+	9	2653	c.2333G>T	c.(2332-2334)gGa>gTa	p.G778V	ATF7IP_ENST00000540793.1_Missense_Mutation_p.G770V|ATF7IP_ENST00000543189.1_Missense_Mutation_p.G769V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G770V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.G769V|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	770	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.G770V(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGCCTAGTGGAAATCCCCAG	0.502000													5	127					0.014758	0.0148632	0.014758	1	0
MIR422A	494334	broad.mit.edu	37	15	64163136	64163136	+	RNA	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:64163136G>A	ENST00000362286.1	-	0	82					NR_029944.1																						ggcccagggaggacaaagctt	0.577000													18	53					0	0	0.043863	0	0
ZNF233	353355	broad.mit.edu	37	19	44778142	44778142	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:44778142G>A	ENST00000391958.2	+	5	1456	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.Q425Q	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q443Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTCTTCACCAGAGAGTTCACA	0.428000													36	89					0	0	0.074837	0	0
CD163	9332	broad.mit.edu	37	12	7639982	7639982	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:7639982C>T	ENST00000359156.4	-	8	2225	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	CD163_ENST00000541972.1_Missense_Mutation_p.E663K|CD163_ENST00000432237.2_Missense_Mutation_p.E675K|CD163_ENST00000396620.3_Missense_Mutation_p.E708K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	675	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.E675K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCACTTGCTCTGAAGGACAT	0.468000													5	46					0	0	0.014758	0	0
SLC4A8	9498	broad.mit.edu	37	12	51845973	51845973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:51845973G>T	ENST00000453097.2	+	4	560	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E142*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	115					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.E115*(2)|p.E62*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGCCTCATGAGCTGTTTAC	0.478000													6	222					3.59834e-05	3.75787e-05	0.021553	1	0
BACH1	571	broad.mit.edu	37	21	30701862	30701862	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:30701862C>G	ENST00000399921.1	+	4	1867	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	BACH1_ENST00000286800.3_Missense_Mutation_p.Q542E	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	542						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q542*(1)|p.Q542E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAATGATTTTCAGTCCTTGTT	0.343000													11	41					0	0	0.069234	0	0
SYNE1	23345	broad.mit.edu	37	6	152563519	152563519	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152563519C>G	ENST00000367255.5	-	107	20350	c.19749G>C	c.(19747-19749)caG>caC	p.Q6583H	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6195H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1107H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6583H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6512H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6512H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6583					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.Q6583H(2)|p.Q6512H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTAAGGTTCTGATTCAGAC	0.473000										HNSCC(10;0.0054)			29	120					0	0	0.108266	0	0
UNC13C	440279	broad.mit.edu	37	15	54435219	54435219	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:54435219C>T	ENST00000537900.1	+	2	2988	c.2988C>T	c.(2986-2988)agC>agT	p.S996S	UNC13C_ENST00000260323.11_Silent_p.S996S|UNC13C_ENST00000545554.1_Intron			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	996					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S996S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAGATAGCAGTTCTGTGG	0.313000													10	83					0	0	0.093190	0	0
BMX	660	broad.mit.edu	37	X	15534291	15534291	+	Missense_Mutation	SNP	G	G	T	rs149800709		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:15534291G>T	ENST00000357607.2	+	5	570	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.G128W|BMX_ENST00000342014.6_Missense_Mutation_p.G128W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	128					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.G128W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CTTCGTGGACGGGAAGTTCCT	0.517000													12	306					4.3838e-07	4.67018e-07	0.105934	1	0
SETX	23064	broad.mit.edu	37	9	135204838	135204838	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135204838T>C	ENST00000372169.2	-	10	2329	c.2147A>G	c.(2146-2148)aAa>aGa	p.K716R	SETX_ENST00000224140.5_Missense_Mutation_p.K716R|SETX_ENST00000393220.1_Missense_Mutation_p.K716R			Q7Z333	SETX_HUMAN	senataxin	716					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.K716R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAGATCTCTTTTACAGACTT	0.363000													66	173					0	0	0.139131	0	0
CLHC1	130162	broad.mit.edu	37	2	55407837	55407837	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:55407837G>C	ENST00000401408.1	-	11	1538	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.S276C|CLHC1_ENST00000407122.1_Missense_Mutation_p.S398C	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1									p.S398C(2)									AGCCTCCTCAGAAAATGTCAG	0.418000													15	73					0	0	0.038395	0	0
TTN	7273	broad.mit.edu	37	2	179629030	179629030	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179629030C>G	ENST00000589042.1	-	43	10213		c.e43-1		TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(6)		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)			ACTTCTGGAACTAAAGAAAGA	0.458000													4	41					0	0	0.009096	0	0
ACSF3	197322	broad.mit.edu	37	16	89211739	89211739	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:89211739C>G	ENST00000317447.4	+	9	1808	c.1431C>G	c.(1429-1431)atC>atG	p.I477M	ACSF3_ENST00000378345.4_Missense_Mutation_p.I212M|ACSF3_ENST00000406948.3_Missense_Mutation_p.I477M|ACSF3_ENST00000537116.1_3'UTR	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	477					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	p.I477M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGACATCATCAAGACTGGAG	0.622000													6	22					0	0	0.038147	0	0
HSF1	3297	broad.mit.edu	37	8	145535686	145535686	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145535686G>C	ENST00000528838.1	+	9	1058	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	HSF1_ENST00000400780.4_Missense_Mutation_p.E235Q	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	300	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.E300Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCAAGGAGGAGCCCCCCAG	0.701000													5	13					0	0	0.014758	0	0
RND1	27289	broad.mit.edu	37	12	49258602	49258602	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:49258602C>T	ENST00000309739.5	-	2	302	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	58					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	p.E58K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						ACCCTCTGTTCCTCTGTCTCC	0.507000													25	176					0	0	0.116897	0	0
GNG2	54331	broad.mit.edu	37	14	52433361	52433361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:52433361G>C	ENST00000335281.4	+	3	578	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q	GNG2_ENST00000556766.1_Missense_Mutation_p.E58Q|GNG2_ENST00000557376.1_Missense_Mutation_p.E97Q|GNG2_ENST00000556752.1_Missense_Mutation_p.E58Q|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000554736.1_Missense_Mutation_p.E58Q|GNG2_ENST00000553432.1_Missense_Mutation_p.E89Q|GNG2_ENST00000555472.1_Missense_Mutation_p.E58Q	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	58					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.E58Q(1)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCCGGCTTCAGAAAACCCGTT	0.522000													75	112					0	0	0.139131	0	0
NEIL3	55247	broad.mit.edu	37	4	178281777	178281777	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:178281777C>T	ENST00000264596.3	+	9	1699	c.1581C>T	c.(1579-1581)ggC>ggT	p.G527G		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	527					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.G527G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAAACAAGGGCAGGCAGTTTT	0.443000								Base excision repair (BER), DNA glycosylases					6	102					0	0	0.021553	0	0
LIMS2	55679	broad.mit.edu	37	2	128412051	128412051	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:128412051G>A	ENST00000409455.1	-	4	926	c.291C>T	c.(289-291)tgC>tgT	p.C97C	LIMS2_ENST00000410011.1_Silent_p.C97C|LIMS2_ENST00000355119.4_Silent_p.C102C|LIMS2_ENST00000409808.2_Silent_p.C97C|LIMS2_ENST00000545738.2_Silent_p.C124C|LIMS2_ENST00000324938.5_Silent_p.C126C			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	102	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.C126C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CACACAGCTCGCAGCGGAAGC	0.617000													33	73					0	0	0.050027	0	0
TNXB	7148	broad.mit.edu	37	6	32014187	32014187	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32014187C>T	ENST00000375244.3	-	31	10572	c.10371G>A	c.(10369-10371)gtG>gtA	p.V3457V	TNXB_ENST00000375247.2_Silent_p.V3455V			P22105	TENX_HUMAN	tenascin XB	3502	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V3457V(1)|p.V3522V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCTCAGCCACGGTCAGTT	0.632000													7	20					0	0	0.047766	0	0
CHD3	1107	broad.mit.edu	37	17	7806657	7806657	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7806657C>T	ENST00000380358.4	+	23	3741	c.3740C>T	c.(3739-3741)gCg>gTg	p.A1247V	CHD3_ENST00000330494.7_Missense_Mutation_p.A1188V|CHD3_ENST00000358181.4_Missense_Mutation_p.A1188V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1188					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.A1188V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGACTCGCGCGTCAGTGGAA	0.582000													4	54					0	0	0.014758	0	0
CACNA1B	774	broad.mit.edu	37	9	140907677	140907677	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140907677T>G	ENST00000371372.1	+	18	2402	c.2257T>G	c.(2257-2259)Tcc>Gcc	p.S753A	CACNA1B_ENST00000277550.3_Missense_Mutation_p.S44A|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S753A|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S753A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S754A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S754A|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	753					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.S44A(1)|p.S753A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGCGAACATCTCCATCGCCGC	0.602000													7	26					0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	rs121913343		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7577121G>T	ENST00000420246.2	-	8	949	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	10					3.09899e-07	3.30975e-07	0.047766	1	0
MYLK	4638	broad.mit.edu	37	3	123452592	123452592	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:123452592C>G	ENST00000360772.3	-	11	1629	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	MYLK_ENST00000346322.5_Missense_Mutation_p.E417D|MYLK_ENST00000475616.1_Missense_Mutation_p.E417D|MYLK_ENST00000359169.1_Missense_Mutation_p.E417D|MYLK_ENST00000360304.3_Missense_Mutation_p.E417D			Q15746	MYLK_HUMAN	myosin light chain kinase	417	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E417D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGCTTGCTCTCAAATTTGG	0.517000													12	143					0	0	0.093190	0	0
ZNF616	90317	broad.mit.edu	37	19	52620235	52620235	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:52620235T>C	ENST00000600228.1	-	4	443	c.182A>G	c.(181-183)gAg>gGg	p.E61G	ZNF616_ENST00000596290.1_3'UTR|ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E61G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTACTGTTCTCTGTTGGTGG	0.323000													14	232					0	0	0.132662	0	0
NCOA1	8648	broad.mit.edu	37	2	24929441	24929441	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:24929441C>T	ENST00000405141.1	+	14	1813	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	NCOA1_ENST00000406961.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000348332.3_Missense_Mutation_p.H368Y|NCOA1_ENST00000407230.1_Missense_Mutation_p.H217Y|NCOA1_ENST00000395856.3_Missense_Mutation_p.H368Y|NCOA1_ENST00000538539.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000288599.5_Missense_Mutation_p.H368Y			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	368	Interaction with STAT3.							p.H368Y(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGGGAGCACAGTGGGCT	0.378000			T	PAX3	alveolar rhadomyosarcoma								4	63					0	0	0.021553	0	0
FAM166A	401565	broad.mit.edu	37	9	140139656	140139656	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139656C>G	ENST00000344774.4	-	4	591	c.537G>C	c.(535-537)caG>caC	p.Q179H	FAM166A_ENST00000388932.2_Missense_Mutation_p.Q179H	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	179								p.Q179H(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						ACTCATCCCTCTGGCAGTGGT	0.667000													4	45					0	0	0.021553	0	0
USP6NL	9712	broad.mit.edu	37	10	11505382	11505382	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:11505382G>A	ENST00000609104.1	-	15	1939	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	USP6NL_ENST00000277575.5_Silent_p.L532L|USP6NL_ENST00000379237.2_Silent_p.L538L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity	p.L532L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGGTAACTGCGAGCGCGGGGT	0.587000													23	145					0	0	0.083992	0	0
MED13	9969	broad.mit.edu	37	17	60023934	60023934	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:60023934G>C	ENST00000397786.2	-	30	6496	c.6420C>G	c.(6418-6420)ctC>ctG	p.L2140L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2140					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L2140L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAGCCAGGAGAGTGCATTGT	0.373000													7	85					0	0	0.029380	0	0
VGLL4	9686	broad.mit.edu	37	3	11643348	11643348	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:11643348G>C	ENST00000273038.3	-	3	578	c.213C>G	c.(211-213)aaC>aaG	p.N71K	VGLL4_ENST00000413604.1_Missense_Mutation_p.N12K|VGLL4_ENST00000430365.2_Missense_Mutation_p.N77K|VGLL4_ENST00000404339.1_Missense_Mutation_p.N76K	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.N71K(1)|p.N77K(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGACGTGGTCGTTGTCACAGT	0.557000													20	84					0	0	0.062417	0	0
ANKFY1	51479	broad.mit.edu	37	17	4086740	4086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:4086740G>C	ENST00000341657.4	-	14	1940	c.1905C>G	c.(1903-1905)agC>agG	p.S635R	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S635R|ANKFY1_ENST00000570535.1_Missense_Mutation_p.S677R	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	635						endosome membrane	metal ion binding|protein binding	p.S635R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGCGCTCTTGCTGTCCTGCC	0.557000													10	50					0	0	0.069234	0	0
MCC	4163	broad.mit.edu	37	5	112421001	112421001	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:112421001C>T	ENST00000302475.4	-	7	1398	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E216K|MCC_ENST00000408903.3_Missense_Mutation_p.E469K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	279					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.E279K(1)|p.E469K(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTGAAGCTCTCTGACCTGA	0.532000													27	103					0	0	0.091800	0	0
OSR2	116039	broad.mit.edu	37	8	99961627	99961627	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:99961627C>A	ENST00000297565.4	+	2	943	c.447C>A	c.(445-447)ggC>ggA	p.G149G	OSR2_ENST00000523368.1_Silent_p.G149G|OSR2_ENST00000435298.2_Silent_p.G149G|OSR2_ENST00000457907.2_Silent_p.G270G|OSR2_ENST00000522510.1_Silent_p.G149G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	149					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.G149G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCATCTCGGGCCTCAGTAAAT	0.532000													14	218					0.00316338	0.00323198	0.132662	1	0
CYFIP1	23191	broad.mit.edu	37	15	22980128	22980128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:22980128C>G	ENST00000313077.7	+	23	2751	c.2626C>G	c.(2626-2628)Caa>Gaa	p.Q876E	CYFIP1_ENST00000435939.2_Missense_Mutation_p.Q445E|CYFIP1_ENST00000560848.1_Missense_Mutation_p.Q876E	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	876					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.Q876E(1)|p.Q445E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCAGGAATTTCAAAGAGATAA	0.358000													14	151					0	0	0.119110	0	0
SACS	26278	broad.mit.edu	37	13	23915126	23915126	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:23915126A>G	ENST00000382298.3	-	10	3477	c.2889T>C	c.(2887-2889)tcT>tcC	p.S963S	SACS_ENST00000402364.1_Silent_p.S213S|SACS_ENST00000382292.3_Silent_p.S963S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	963					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.S963S(1)|p.S816S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACTGAAATAGAAAGTCGCA	0.363000													25	91					0	0	0.083992	0	0
SP3	6670	broad.mit.edu	37	2	174819648	174819648	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:174819648G>A	ENST00000310015.6	-	4	2122	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SP3_ENST00000455789.2_Missense_Mutation_p.S478F|SP3_ENST00000418194.2_Missense_Mutation_p.S463F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	531					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	p.S531F(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TATACCAGCAGAATCTATAGA	0.433000													5	122					0	0	0.014758	0	0
TAF1	6872	broad.mit.edu	37	X	70601652	70601652	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:70601652G>C	ENST00000449580.1	+	9	1468	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	TAF1_ENST00000423759.1_Missense_Mutation_p.E494Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E473Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E494Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	473					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.E494Q(1)|p.E473K(1)|p.E494K(1)|p.E473Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATTGACAATGAGGATCTGGT	0.453000													5	216					0	0	0.021553	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990203	56990203	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990203C>T	ENST00000371250.3	-	3	872	c.321G>A	c.(319-321)cgG>cgA	p.R107R		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	107					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	p.R107R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGTAATAGATCCGGTAGAATT	0.483000													20	78					0	0	0.069288	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458275	53458275	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:53458275G>C	ENST00000331173.4	-	1	1080	c.1035C>G	c.(1033-1035)gtC>gtG	p.V345V	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	345	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding	p.V345V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTCTCCAGTGACTGAAAGCA	0.582000													20	73					0	0	0.049695	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054610	104054610	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:104054610G>C	ENST00000395862.3	+	3	334	c.175G>C	c.(175-177)Gct>Cct	p.A59P	ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.A59P|ATP6V1C1_ENST00000521514.1_5'UTR	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	59					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	p.A59P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGATGAACTGGCTAAACTGGA	0.368000													8	192					0	0	0.047766	0	0
MRPL22	29093	broad.mit.edu	37	5	154346442	154346442	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:154346442C>T	ENST00000523037.1	+	7	647	c.606C>T	c.(604-606)atC>atT	p.I202I	MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000439747.3_Silent_p.I228I|MRPL22_ENST00000522038.1_Silent_p.I208I|MRPL22_ENST00000265229.8_Silent_p.I122I	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	202					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.I202I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGACCATCGTTCACACTC	0.438000													4	20					0	0	0.009096	0	0
LY75	4065	broad.mit.edu	37	2	160738705	160738705	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:160738705G>C	ENST00000263636.4	-	7	1203	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	LY75_ENST00000553424.1_Missense_Mutation_p.F392L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F392L|LY75_ENST00000554112.1_Missense_Mutation_p.F392L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F392L	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.F392L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGTCACTACTGAAGGCTTTGC	0.423000													15	121					0	0	0.146539	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080263	57080263	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57080263G>A	ENST00000532437.1	-	4	2210	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	TNKS1BP1_ENST00000358252.3_Silent_p.L633L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	633	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L633L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CATCAGCAAAGAGAACACAGG	0.662000													10	24					0	0	0.132662	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42138489	42138489	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:42138489G>T	ENST00000542534.2	+	22	2422	c.2382G>T	c.(2380-2382)tgG>tgT	p.W794C	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.W563C|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.W563C|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.W794C	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)									p.W794C(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTCTGACGTGGCGTCCACTGG	0.522000													6	89					0.00198382	0.0020416	0.029380	1	0
CRELD1	78987	broad.mit.edu	37	3	9979321	9979321	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:9979321G>A	ENST00000383811.3	+	3	932	c.333G>A	c.(331-333)ctG>ctA	p.L111L	CRELD1_ENST00000452070.1_Silent_p.L111L|CRELD1_ENST00000397170.3_Silent_p.L111L|CRELD1_ENST00000326434.5_Silent_p.L111L	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	111					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	p.L111L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGCTGGAGCTGAGTGAGGAGC	0.602000													3	10					0	0	0.115264	0	0
ZNF16	7564	broad.mit.edu	37	8	146157055	146157055	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:146157055C>A	ENST00000276816.4	-	4	1304	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	ZNF16_ENST00000394909.2_Missense_Mutation_p.G373V	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G373V(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	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)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGGCTTCTCTCCTGTGTGAGT	0.532000													4	115					0.00909568	0.00920422	0.009096	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066081	40066081	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:40066081C>T	ENST00000336649.4	+	28	4251	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F	CACNA1I_ENST00000402142.3_Silent_p.F1411F|CACNA1I_ENST00000401624.1_Silent_p.F1411F|CACNA1I_ENST00000400164.3_Silent_p.F1376F|CACNA1I_ENST00000407673.1_Silent_p.F1376F|CACNA1I_ENST00000404898.1_Silent_p.F1376F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1411					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.F1376F(1)|p.F1411F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGCTGTACTTCATCTCCTTCC	0.577000													37	194					0	0	0.092188	0	0
FAM178A	55719	broad.mit.edu	37	10	102676898	102676898	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102676898G>C	ENST00000238961.4	+	3	1298	c.756G>C	c.(754-756)ttG>ttC	p.L252F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L252F|FAM178A_ENST00000370271.3_Missense_Mutation_p.L252F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A									p.L252F(1)									TAAAGAGGTTGAGAAAGGAGC	0.438000													12	76					0	0	0.105934	0	0
GPR180	160897	broad.mit.edu	37	13	95273419	95273419	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:95273419A>G	ENST00000376958.4	+	6	849	c.824A>G	c.(823-825)cAa>cGa	p.Q275R		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	275						integral to membrane		p.Q275R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAGAAGTCTCAAAGCAGACCT	0.423000													5	188					0	0	0.014758	0	0
BRIP1	83990	broad.mit.edu	37	17	59763273	59763273	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59763273G>A	ENST00000259008.2	-	19	3096	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	BRIP1_ENST00000577598.1_Silent_p.V943V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	943	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.V943V(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTAGTTCCTGGACACATATCT	0.363000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					44	323					0	0	0.139131	0	0
CXorf38	159013	broad.mit.edu	37	X	40496396	40496396	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:40496396G>A	ENST00000378426.1	-	3	724	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	CXorf38_ENST00000378421.1_Missense_Mutation_p.R43C|CXorf38_ENST00000440784.2_Missense_Mutation_p.R77C|CXorf38_ENST00000327877.5_Missense_Mutation_p.R162C			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	162								p.R162C(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTCATTACGACATTTAATT	0.338000													5	91					0	0	0.021553	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410632	121410632	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:121410632G>C	ENST00000393667.3	-	14	7689	c.7579C>G	c.(7579-7581)Ctc>Gtc	p.L2527V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2522V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2522					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.L2522V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGAATTGAGATCATCCATA	0.393000													9	357					0	0	0.047766	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376067	29376067	+	RNA	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:29376067G>C	ENST00000398878.3	+	0	1495				SNX29P2_ENST00000507381.1_RNA														p.D118H(1)									CTCATTTGATGATGAGGAAGA	0.408000													18	60					0	0	0.049695	0	0
MYCBP2	23077	broad.mit.edu	37	13	77825292	77825292	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:77825292G>C	ENST00000407578.2	-	15	2641	c.2375C>G	c.(2374-2376)cCc>cGc	p.P792R	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P754R|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P754R|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.P754R(2)|p.P792R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCCTCCGGGGACTCTGTC	0.443000													8	65					0	0	0.038147	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018480	112018480	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112018480G>C	ENST00000374566.3	-	9	1382	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.L289V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	289	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.L289V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCAGTCCAAGAGAATATTCA	0.368000													30	159					0	0	0.054565	0	0
TTF2	8458	broad.mit.edu	37	1	117640030	117640030	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:117640030C>A	ENST00000369466.4	+	21	3288	c.3244C>A	c.(3244-3246)Cac>Aac	p.H1082N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.H1082N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGGAGGAAATCACCTCTTTCT	0.463000													53	249					5.12918e-33	5.76862e-33	0.139131	1	0
HDAC6	10013	broad.mit.edu	37	X	48666514	48666514	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:48666514G>T	ENST00000334136.5	+	9	885	c.707G>T	c.(706-708)cGc>cTc	p.R236L	HDAC6_ENST00000444343.2_Missense_Mutation_p.R250L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.R236L|HDAC6_ENST00000413163.2_Missense_Mutation_p.R181L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	236	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.R236L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTGGCAGCCCGCTATGCTCAA	0.582000													5	10					0.000274275	0.000283641	0.047766	1	0
ITPR2	3709	broad.mit.edu	37	12	26839539	26839539	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:26839539C>G	ENST00000381340.3	-	11	1439	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	341	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.K341N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGCGTTTTTTCTTTGAAGTTG	0.413000													13	260					0	0	0.105934	0	0
GRK5	2869	broad.mit.edu	37	10	121156215	121156215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121156215T>A	ENST00000392870.2	+	4	599	c.270T>A	c.(268-270)taT>taA	p.Y90*	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	90	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.Y90*(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGGCAGAATATGAAGTTACTC	0.438000													4	87					0	0	0.014758	0	0
PTCH1	5727	broad.mit.edu	37	9	98239043	98239043	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:98239043C>G	ENST00000430669.2	-	11	1987	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	PTCH1_ENST00000437951.1_Missense_Mutation_p.E468Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E383Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E533Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E534Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E383Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E383Q			Q13635	PTC1_HUMAN	patched 1	534	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.E533Q(2)|p.E534Q(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGCATTACCTCAAAAGGGATT	0.423000													4	23					0	0	0.014758	0	0
TRPM4	54795	broad.mit.edu	37	19	49692258	49692258	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49692258C>G	ENST00000252826.5	+	14	2055	c.1929C>G	c.(1927-1929)ctC>ctG	p.L643L	TRPM4_ENST00000427978.2_Silent_p.L643L|TRPM4_ENST00000355712.5_Silent_p.L289L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	643					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.L643L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTCCTCCTCCGTCGCTGCC	0.617000													43	83					0	0	0.139131	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32130348	32130348	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32130348C>G	ENST00000422437.1	+	8	905	c.714C>G	c.(712-714)ttC>ttG	p.F238L	PPT2_ENST00000395523.1_Missense_Mutation_p.F238L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.F238L|PPT2_ENST00000445576.2_Missense_Mutation_p.F238L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Missense_Mutation_p.F115L|PPT2_ENST00000361568.2_Missense_Mutation_p.F244L|PPT2_ENST00000324816.6_Missense_Mutation_p.F238L|PPT2_ENST00000375137.2_Missense_Mutation_p.F238L														p.F244L(1)									TTTGTAGCTTCTTTGGTTTCT	0.532000													71	234					0	0	0.139131	0	0
KIFC2	90990	broad.mit.edu	37	8	145693255	145693255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145693255C>G	ENST00000301332.2	+	7	1072	c.695C>G	c.(694-696)tCa>tGa	p.S232*	KIFC2_ENST00000301331.5_5'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	232	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.S232*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGACGGACTCAGAGAAAAGG	0.667000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0	0	0.014758	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144922578	144922578	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:144922578G>C	ENST00000529945.1	-	3	1757	c.1318C>G	c.(1318-1320)Caa>Gaa	p.Q440E	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q343E|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q64E|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q440E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q414E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q414E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	277					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.Q277E(2)|p.Q440E(1)		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)		TCTTGCTTTTGAGACGACTCC	0.373000			T	PDGFRB	MPD								69	762					0	0	0.139131	0	0
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	EPS8L2_ENST00000526198.1_Silent_p.Q290Q|EPS8L2_ENST00000318562.8_Silent_p.Q274Q|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.Q274Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274						cytoplasm		p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647000													6	5					0	0	0.029380	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958572	57958572	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57958572C>G	ENST00000311591.3	+	1	667	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGTGTTTGCTCTTTTCGTCAT	0.473000													35	25					0	0	0.069456	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834235	179834235	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:179834235T>A	ENST00000553856.1	-	1	76	c.77A>T	c.(76-78)tAc>tTc	p.Y26F	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron	NM_022347.3	NP_071742.1												p.Y26F(2)									TTCAGTTTGGTACAACCAGTG	0.393000													10	171					0	0	0.080935	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866040	30866040	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:30866040T>A	ENST00000403066.1	-	5	306	c.23A>T	c.(22-24)gAt>gTt	p.D8V	SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.D67V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.D8V|SEC14L3_ENST00000540910.1_5'UTR			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	67						integral to membrane|intracellular	lipid binding|transporter activity	p.D67V(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATGGTCAATATCCATGGTCTT	0.542000													109	59					0	0	0.139131	0	0
TRRAP	8295	broad.mit.edu	37	7	98588176	98588176	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98588176G>T	ENST00000359863.4	+	63	9911	c.9702G>T	c.(9700-9702)tgG>tgT	p.W3234C	TRRAP_ENST00000446306.3_Missense_Mutation_p.W3205C|TRRAP_ENST00000355540.3_Missense_Mutation_p.W3205C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3234	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.W3205C(1)|p.W3234C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGGCCTGGATCCCACAGC	0.552000													12	68					1.33834e-09	1.45875e-09	0.043863	1	0
NES	10763	broad.mit.edu	37	1	156642464	156642464	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156642464C>G	ENST00000368223.3	-	4	1648	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	506	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.E506Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCTTTCTCTACCAACCCC	0.502000													31	267					0	0	0.059317	0	0
SHKBP1	92799	broad.mit.edu	37	19	41094536	41094536	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:41094536C>T	ENST00000291842.5	+	14	1392	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.A423V	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	448						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A448V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGTCTGTGCCGACAACAAC	0.617000													6	431					0	0	0.021553	0	0
NRIP1	8204	broad.mit.edu	37	21	16340220	16340220	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340220C>T	ENST00000400202.1	-	3	1006	c.294G>A	c.(292-294)cgG>cgA	p.R98R	NRIP1_ENST00000318948.4_Silent_p.R98R|NRIP1_ENST00000400199.1_Silent_p.R98R			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	98	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.R98R(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACAGCCTCTTCCGCTTTGCTG	0.458000													15	101					0	0	0.146539	0	0
FEM1A	55527	broad.mit.edu	37	19	4793524	4793524	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4793524A>G	ENST00000269856.3	+	1	1797	c.1658A>G	c.(1657-1659)tAt>tGt	p.Y553C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	553					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.Y553C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGGCCGCTATCCCGTGGGC	0.632000													16	28					0	0	0.146539	0	0
TGS1	96764	broad.mit.edu	37	8	56698335	56698335	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56698335A>T	ENST00000260129.5	+	3	701	c.224A>T	c.(223-225)cAt>cTt	p.H75L		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	75					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.H75L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCAGAATCACATGACAGCAAA	0.423000													31	55					0	0	0.144211	0	0
TCTN1	79600	broad.mit.edu	37	12	111064234	111064234	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:111064234C>G	ENST00000551590.1	+	3	565	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	TCTN1_ENST00000397659.4_Missense_Mutation_p.Q137E|TCTN1_ENST00000397655.3_Missense_Mutation_p.Q137E|TCTN1_ENST00000550703.2_Missense_Mutation_p.Q137E|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.Q137E			Q2MV58	TECT1_HUMAN	tectonic family member 1	137					multicellular organismal development	extracellular region		p.Q137E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AAACCCACCTCAAAGAGTATT	0.313000													8	41					0	0	0.038147	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836385	94836385	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:94836385G>C	ENST00000371531.1	+	6	1255	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E293Q|CYP26A1_ENST00000224356.4_Missense_Mutation_p.E362Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	362					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.E293Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TGTTATTAAGGAGACCCTTCG	0.388000													22	77					0	0	0.076483	0	0
GPR155	151556	broad.mit.edu	37	2	175311382	175311382	+	Missense_Mutation	SNP	C	C	T	rs111563303		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:175311382C>T	ENST00000392552.2	-	12	2208	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	GPR155_ENST00000295500.4_Missense_Mutation_p.R657Q|GPR155_ENST00000392551.2_Missense_Mutation_p.R657Q	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	657					intracellular signal transduction|transmembrane transport	integral to membrane		p.R657Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAACACATGTCGGGTCAGTTG	0.423000													8	125					0	0	0.058154	0	0
CNST	163882	broad.mit.edu	37	1	246829073	246829073	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246829073G>A	ENST00000366513.4	+	11	2313	c.2044G>A	c.(2044-2046)Gga>Aga	p.G682R		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	682					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.G682R(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGTGTTGGAGGAACTGCATT	0.443000													5	100					0	0	0.014758	0	0
DAB1	1600	broad.mit.edu	37	1	57480856	57480856	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480856C>T	ENST00000371236.2	-	12	1407	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.G296S|DAB1_ENST00000420954.2_Missense_Mutation_p.G380S|DAB1_ENST00000371234.4_Missense_Mutation_p.G382S|DAB1_ENST00000414851.2_Missense_Mutation_p.G364S|DAB1_ENST00000371231.1_Missense_Mutation_p.G415S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	415					cell differentiation|nervous system development			p.G382S(1)		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						GTGAGGGGACCTTGGAACATG	0.602000													13	55					0	0	0.105934	0	0
POGZ	23126	broad.mit.edu	37	1	151378787	151378787	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151378787G>A	ENST00000271715.2	-	19	3038	c.2724C>T	c.(2722-2724)ctC>ctT	p.L908L	POGZ_ENST00000368863.2_Silent_p.L813L|POGZ_ENST00000361398.3_Silent_p.L855L|POGZ_ENST00000491586.1_Silent_p.L864L|POGZ_ENST00000540984.1_Silent_p.L270L|POGZ_ENST00000409503.1_Silent_p.L899L|POGZ_ENST00000531094.1_Silent_p.L846L|POGZ_ENST00000392723.1_Silent_p.L855L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	908	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.L908L(1)|p.L864L(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTGATGGGAGTGCTGGGG	0.597000													15	61					0	0	0.132662	0	0
EPS8	2059	broad.mit.edu	37	12	15803941	15803941	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:15803941C>T	ENST00000281172.5	-	14	1687		c.e14-1		EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.?(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCACTCTGCTCTGCAGGAGGG	0.448000													12	72					0	0	0.093190	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143823	142143823	+	RNA	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:142143823G>T	ENST00000390373.2	-	0	172																											CCCCTTGCCTGGGTCTTGTCG	0.488000													29	78					1.80694e-10	1.98483e-10	0.144211	1	0
TBX19	9095	broad.mit.edu	37	1	168278089	168278089	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:168278089C>G	ENST00000367821.3	+	7	1077	c.1026C>G	c.(1024-1026)acC>acG	p.T342T	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	342					anatomical structure morphogenesis	nucleus	DNA binding	p.T342T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TACCCCACACCAACGGACCAA	0.507000													11	156					0	0	0.093190	0	0
CEP78	84131	broad.mit.edu	37	9	80881397	80881397	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:80881397C>G	ENST00000424347.2	+	15	2126	c.1837C>G	c.(1837-1839)Ctc>Gtc	p.L613V	CEP78_ENST00000415759.2_Missense_Mutation_p.L614V|CEP78_ENST00000277082.5_Missense_Mutation_p.L613V|CEP78_ENST00000376598.2_Missense_Mutation_p.L629V|CEP78_ENST00000376597.4_Missense_Mutation_p.L630V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	613					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.L613V(1)|p.L630V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TCCTTTGCCTCTCGACTCCTT	0.428000													8	62					0	0	0.047766	0	0
FHOD1	29109	broad.mit.edu	37	16	67264128	67264128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67264128C>G	ENST00000258201.4	-	20	3302	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1019					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.E1019Q(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGAACTTCTCTGTCTGGAGA	0.592000													6	74					0	0	0.029380	0	0
APPBP2	10513	broad.mit.edu	37	17	58531675	58531675	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:58531675C>T	ENST00000083182.3	-	11	1613	c.1326G>A	c.(1324-1326)atG>atA	p.M442I		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	442					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.M442I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAAATTTTCTCATTGACTGAT	0.294000													5	139					0	0	0.021553	0	0
RNPEP	6051	broad.mit.edu	37	1	201972454	201972454	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201972454G>A	ENST00000295640.4	+	9	1559	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E467K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	506					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	p.E506K(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCCTGCTGAAGAGCTAGC	0.582000													14	16					0	0	0.119110	0	0
KDM2A	22992	broad.mit.edu	37	11	67017821	67017821	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:67017821C>T	ENST00000529006.2	+	17	2766	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R335W|KDM2A_ENST00000308783.5_Missense_Mutation_p.R232W|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.R774W(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACCATGGTACGGGAAAAGGA	0.617000													7	24					0	0	0.029380	0	0
C1orf51	148523	broad.mit.edu	37	1	150256881	150256881	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150256881G>A	ENST00000290363.5	+	3	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.R163H|C1orf51_ENST00000369094.1_Missense_Mutation_p.R75H	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	163								p.R163H(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGATCCAGCGTATTGTAGGT	0.468000													5	255					0	0	0.014758	0	0
ZNF780A	284323	broad.mit.edu	37	19	40582009	40582009	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40582009C>G	ENST00000450241.2	-	6	549	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E114Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E115Q|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E114Q|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E115Q			O75290	Z780A_HUMAN	zinc finger protein 780A	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E115Q(1)|p.E80Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAAGGCCTCAATGCCAAGA	0.328000													11	245					0	0	0.080935	0	0
DAB1	1600	broad.mit.edu	37	1	57481004	57481004	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57481004C>A	ENST00000371236.2	-	12	1259	c.996G>T	c.(994-996)gtG>gtT	p.V332V	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.V246V|DAB1_ENST00000420954.2_Silent_p.V330V|DAB1_ENST00000371234.4_Silent_p.V332V|DAB1_ENST00000414851.2_Silent_p.V314V|DAB1_ENST00000371231.1_Silent_p.V365V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	365					cell differentiation|nervous system development			p.V332V(1)		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						CCCCCGGCATCACCTGAGCGA	0.667000													8	46					0.00307968	0.00315407	0.038147	1	0
HAPLN2	60484	broad.mit.edu	37	1	156593922	156593922	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156593922G>A	ENST00000255039.1	+	4	816	c.409G>A	c.(409-411)Gag>Aag	p.E137K	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	137	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.E137K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCGAGGACGAGAGCGTGGC	0.697000													4	26					0	0	0.009096	0	0
DIS3L	115752	broad.mit.edu	37	15	66621672	66621672	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:66621672A>G	ENST00000319194.5	+	14	2482	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000568874.1_3'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.K824E	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	824					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	p.K741E(1)|p.K824E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATGGAAATTAAGGGAAATCT	0.333000													7	64					0	0	0.029380	0	0
RNF157	114804	broad.mit.edu	37	17	74152378	74152378	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:74152378C>T	ENST00000269391.6	-	14	1570	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	RNF157_ENST00000319945.6_Missense_Mutation_p.E480K	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	480	Ser-rich.						zinc ion binding	p.E1083K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAGATTCTCACTTTCTGGA	0.562000													10	60					0	0	0.080935	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28093491	28093491	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:28093491G>C	ENST00000340487.4	+	2	419	c.270G>C	c.(268-270)ctG>ctC	p.L90L	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	90	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L90L(1)		large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AACAGTTCCTGAGCATTCTTC	0.552000													8	91					0	0	0.038147	0	0
KCNAB1	7881	broad.mit.edu	37	3	156232888	156232888	+	Splice_Site	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:156232888G>T	ENST00000302490.8	+	10	1561		c.e10-1		KCNAB1_ENST00000389636.5_Splice_Site|KCNAB1_ENST00000490337.1_Splice_Site|KCNAB1_ENST00000389634.5_Splice_Site|KCNAB1_ENST00000471742.1_Splice_Site|KCNAB1_ENST00000497291.1_Splice_Site	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.?(3)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCTCCCTAGGAAGCCTATT	0.413000													11	127					1.33987e-11	1.48719e-11	0.069234	1	0
ZNF236	7776	broad.mit.edu	37	18	74593443	74593443	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:74593443A>G	ENST00000253159.8	+	9	1584	c.1386A>G	c.(1384-1386)atA>atG	p.I462M	ZNF236_ENST00000320610.9_Missense_Mutation_p.I464M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	462					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I462M(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAAAAATGATAAAGAAGAAGT	0.383000													20	16					0	0	0.049695	0	0
BICD1	636	broad.mit.edu	37	12	32480490	32480490	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32480490G>A	ENST00000548411.1	+	5	1282	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	BICD1_ENST00000281474.5_Silent_p.R367R	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	367					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.R367R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATGAGCGGGTGCACCGGC	0.612000													8	61					0	0	0.038147	0	0
EFCAB1	79645	broad.mit.edu	37	8	49642408	49642408	+	Missense_Mutation	SNP	C	C	G	rs145734570	byFrequency	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:49642408C>G	ENST00000433756.1	-	3	345	c.186G>C	c.(184-186)ttG>ttC	p.L62F	EFCAB1_ENST00000262103.3_Missense_Mutation_p.L114F|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.L62F	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	114							calcium ion binding	p.L114F(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CGTCACCATTCAAATCAAACA	0.348000													5	56					0	0	0.014758	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502637	64502637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64502637G>A	ENST00000377494.1	-	11	2281	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	RASGRP2_ENST00000354024.3_Silent_p.I453I|RASGRP2_ENST00000377497.3_Silent_p.I453I|RASGRP2_ENST00000394432.3_Silent_p.I453I			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	453	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	p.I515I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCCACGGATGATCTGGAATT	0.602000													15	47					0	0	0.132662	0	0
TMC3	342125	broad.mit.edu	37	15	81628953	81628953	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:81628953C>G	ENST00000558726.1	-	20	2338	c.2203G>C	c.(2203-2205)Gaa>Caa	p.E735Q	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E734Q|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	734				A -> AA (in Ref. 1; AAP78778).		integral to membrane		p.E734Q(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TACTTACCTTCTACCATCTGG	0.413000													7	159					0	0	0.029380	0	0
CNST	163882	broad.mit.edu	37	1	246754982	246754982	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246754982G>C	ENST00000366513.4	+	2	387	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	CNST_ENST00000366512.3_Missense_Mutation_p.E40Q|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	40					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.E40Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGATGAAAATGAAAATCAGCT	0.478000													7	77					0	0	0.047766	0	0
SYNE1	23345	broad.mit.edu	37	6	152771879	152771879	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152771879G>A	ENST00000367255.5	-	27	3877	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	SYNE1_ENST00000341594.5_Silent_p.D1158D|SYNE1_ENST00000265368.4_Silent_p.D1092D|SYNE1_ENST00000423061.1_Silent_p.D1099D|SYNE1_ENST00000367248.3_Silent_p.D1082D|SYNE1_ENST00000413186.2_Silent_p.D1092D|SYNE1_ENST00000367253.4_Silent_p.D1092D|SYNE1_ENST00000448038.1_Silent_p.D1099D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1092					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.D1092D(2)|p.D1099D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTTACTGGGTCCCGCACTG	0.493000										HNSCC(10;0.0054)			8	263					0	0	0.058154	0	0
TRO	7216	broad.mit.edu	37	X	54949137	54949137	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:54949137A>G	ENST00000173898.7	+	3	284	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.M58V|TRO_ENST00000375022.4_Missense_Mutation_p.M58V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	58					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.M58V(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTCCCTGGCCATGGACCCACC	0.557000													17	22					0	0	0.033300	0	0
TIE1	7075	broad.mit.edu	37	1	43782984	43782984	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:43782984G>C	ENST00000372476.3	+	15	2603	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.E487Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	842	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E842K(1)|p.E842Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCACCTTTGAGGACCTCAT	0.587000													14	162					0	0	0.033300	0	0
HECTD4	283450	broad.mit.edu	37	12	112666449	112666449	+	Splice_Site	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:112666449A>G	ENST00000550722.1	-	42	6642		c.e42+1		HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.?(2)									AAATCACCTTACCTCTGATCT	0.403000													9	83					0	0	0.047766	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338296	151338296	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151338296C>T	ENST00000435071.1	-	8	1140	c.678G>A	c.(676-678)gtG>gtA	p.V226V	SELENBP1_ENST00000447402.3_Silent_p.V228V|SELENBP1_ENST00000368868.5_Silent_p.V290V|SELENBP1_ENST00000426705.2_Silent_p.V332V			Q13228	SBP1_HUMAN	selenium binding protein 1	290					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.V290V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCTGGATCACCTTCTCCA	0.552000													16	219					0	0	0.146539	0	0
AK8	158067	broad.mit.edu	37	9	135601228	135601228	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135601228G>C	ENST00000298545.3	-	13	1808	c.1287C>G	c.(1285-1287)gtC>gtG	p.V429V	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	429	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.V429V(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTTTCAGCTTGACCTGCTCTT	0.552000													3	10					0	0	0.115264	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:84608089A>G	ENST00000344803.2	+	4	2751	c.2704A>G	c.(2704-2706)Atg>Gtg	p.M902V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.M902V(2)									CAAACAAAAGATGTTGGAAGC	0.433000													4	63					0	0	0.014758	0	0
RLF	6018	broad.mit.edu	37	1	40697236	40697236	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40697236C>G	ENST00000372771.4	+	7	1022	c.995C>G	c.(994-996)tCt>tGt	p.S332C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	332					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S332C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATTGACCCTTCTTTAGATACT	0.358000													19	151					0	0	0.055883	0	0
PAPPA	5069	broad.mit.edu	37	9	118949701	118949701	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:118949701C>G	ENST00000328252.3	+	2	1053	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	228					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.F228L(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGCATATTCAGCCCACTGA	0.547000													16	60					0	0	0.132662	0	0
USH2A	7399	broad.mit.edu	37	1	215812566	215812566	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:215812566C>G	ENST00000366943.2	-	69	15369	c.14983G>C	c.(14983-14985)Gtc>Ctc	p.V4995L	USH2A_ENST00000307340.3_Missense_Mutation_p.V4995L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4995	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V4995L(1)		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)		GTGCAGATGACCTGGAAAAAG	0.403000										HNSCC(13;0.011)			6	144					0	0	0.021553	0	0
SLC9A3	6550	broad.mit.edu	37	5	476396	476396	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:476396G>T	ENST00000264938.3	-	13	1997	c.1988C>A	c.(1987-1989)tCc>tAc	p.S663Y	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.S654Y	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	663	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.S663Y(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGACTTGAAGGACTCCAGGCG	0.602000													9	240					2.17888e-05	2.28674e-05	0.058154	1	0
MCF2L2	23101	broad.mit.edu	37	3	183013209	183013209	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:183013209C>G	ENST00000328913.3	-	13	1851	c.1554G>C	c.(1552-1554)aaG>aaC	p.K518N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.K518N|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K518N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K518N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	518					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K518N(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCACTTGCCTCTTGTGAAATA	0.458000													4	99					0	0	0.014758	0	0
NAE1	8883	broad.mit.edu	37	16	66847711	66847711	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66847711G>C	ENST00000379463.2	-	13	1053	c.861C>G	c.(859-861)cgC>cgG	p.R287R	NAE1_ENST00000359087.4_Silent_p.R296R|NAE1_ENST00000394074.2_Silent_p.R204R|NAE1_ENST00000290810.3_Silent_p.R293R	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	293					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	p.R293R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTATGCAGCGATCATCAT	0.308000													11	136					0	0	0.080935	0	0
MYH4	4622	broad.mit.edu	37	17	10351974	10351974	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:10351974G>C	ENST00000255381.2	-	32	4602	c.4492C>G	c.(4492-4494)Cat>Gat	p.H1498D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1498					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.H1498D(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTCAAGATGATCCAGGGAT	0.428000													6	150					0	0	0.058154	0	0
CYP2W1	54905	broad.mit.edu	37	7	1024674	1024674	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:1024674G>A	ENST00000340150.6	+	3	280	c.258G>A	c.(256-258)ccG>ccA	p.P86P	CYP2W1_ENST00000308919.7_Silent_p.P142P			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	142					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.P142P(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGGGAGCCGGTGGCTGACA	0.677000													14	16					0	0	0.043863	0	0
WFS1	7466	broad.mit.edu	37	4	6303952	6303952	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:6303952C>A	ENST00000226760.1	+	8	2600	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L	WFS1_ENST00000503569.1_Missense_Mutation_p.F810L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	810					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.F810L(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCAGCGAGTTCAAGAGCGTGC	0.662000													4	18					0.00909568	0.00920422	0.009096	1	0
GMPS	8833	broad.mit.edu	37	3	155632331	155632331	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:155632331G>C	ENST00000496455.2	+	8	1345	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	GMPS_ENST00000295920.7_Missense_Mutation_p.R238T	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.R337T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGAGAAAAGAAAAATCATT	0.328000			T	MLL	AML								8	92					0	0	0.058154	0	0
CAPSL	133690	broad.mit.edu	37	5	35910144	35910144	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35910144T>A	ENST00000397367.2	-	4	475	c.349A>T	c.(349-351)Atg>Ttg	p.M117L	CAPSL_ENST00000397366.1_Missense_Mutation_p.M117L|CAPSL_ENST00000514524.1_Missense_Mutation_p.M117L	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	117	EF-hand 3.					cytoplasm	calcium ion binding	p.M117L(2)		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)			AAAGCTTGCATGATTACCTCT	0.373000													21	290					0	0	0.062417	0	0
CMTM2	146225	broad.mit.edu	37	16	66621981	66621981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66621981G>C	ENST00000268595.2	+	4	857	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	CMTM2_ENST00000379486.2_Missense_Mutation_p.E183Q	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	236					chemotaxis	extracellular space|integral to membrane	cytokine activity	p.E236Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCACCAGAACCTGGCAA	0.532000													4	75					0	0	0.058154	0	0
NRIP1	8204	broad.mit.edu	37	21	16340196	16340196	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340196C>T	ENST00000400202.1	-	3	1030	c.318G>A	c.(316-318)atG>atA	p.M106I	NRIP1_ENST00000318948.4_Missense_Mutation_p.M106I|NRIP1_ENST00000400199.1_Missense_Mutation_p.M106I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	106	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.M106I(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGTTTAAATTCATGATAGAAT	0.468000													18	140					0	0	0.043863	0	0
KDM5A	5927	broad.mit.edu	37	12	420231	420231	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:420231C>G	ENST00000399788.2	-	21	3399		c.e21-1		KDM5A_ENST00000382815.4_Splice_Site	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A						chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGCTGCCACTCTGAAAAACCA	0.418000			T	NUP98	AML								3	36					0	0	0.115264	0	0
GPR35	2859	broad.mit.edu	37	2	241569480	241569480	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:241569480C>G	ENST00000319838.5	+	6	1053	c.111C>G	c.(109-111)ctC>ctG	p.L37L	GPR35_ENST00000438013.2_Silent_p.L68L|GPR35_ENST00000403859.1_Silent_p.L37L|GPR35_ENST00000407714.1_Silent_p.L37L|GPR35_ENST00000430267.1_Silent_p.L37L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	37						integral to plasma membrane	G-protein coupled receptor activity	p.L37L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCTGCTGCTCAACAGCCTGG	0.642000													5	38					0	0	0.014758	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979019	119979019	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:119979019C>G	ENST00000307142.4	+	5	3912	c.3716C>G	c.(3715-3717)tCt>tGt	p.S1239C	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.S1239C(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACCAGGTCTGATTACTGT	0.443000													6	58					0	0	0.021553	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318920	103318920	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:103318920C>G	ENST00000233969.2	+	9	1946	c.1804C>G	c.(1804-1806)Cga>Gga	p.R602G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	602						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R602G(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGATGAAATTCGAGAACTCTT	0.328000													6	97					0	0	0.021553	0	0
CCDC18	343099	broad.mit.edu	37	1	93677790	93677790	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:93677790A>G	ENST00000343253.7	+	11	1969	c.1467A>G	c.(1465-1467)gaA>gaG	p.E489E	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.E607E|CCDC18_ENST00000338949.4_Silent_p.E288E|CCDC18_ENST00000401026.3_Silent_p.E489E			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	489								p.E607E(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TAGAAACAGAACCTGTAAAGC	0.294000													34	179					0	0	0.092188	0	0
PDE9A	5152	broad.mit.edu	37	21	44179187	44179187	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:44179187A>T	ENST00000291539.6	+	11	949	c.889A>T	c.(889-891)Agg>Tgg	p.R297W	PDE9A_ENST00000539837.1_Missense_Mutation_p.R169W|PDE9A_ENST00000328862.6_Missense_Mutation_p.R271W|PDE9A_ENST00000349112.3_Missense_Mutation_p.R169W|PDE9A_ENST00000398227.3_Missense_Mutation_p.R137W|PDE9A_ENST00000335512.4_Missense_Mutation_p.R237W|PDE9A_ENST00000380328.2_Missense_Mutation_p.R244W|PDE9A_ENST00000398236.3_Missense_Mutation_p.R211W|PDE9A_ENST00000398232.3_Missense_Mutation_p.R230W|PDE9A_ENST00000398225.3_Missense_Mutation_p.R256W|PDE9A_ENST00000398234.3_Missense_Mutation_p.R196W|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.R195W|PDE9A_ENST00000398224.3_Missense_Mutation_p.R170W|PDE9A_ENST00000398229.3_Missense_Mutation_p.R163W	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	297	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.R297W(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CACCCTCAGGAGGTGGCTGGT	0.587000													3	30					0	0	0.009096	0	0
FAM127B	26071	broad.mit.edu	37	X	134185976	134185976	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:134185976C>T	ENST00000370775.2	-	1	229	c.163G>A	c.(163-165)Gag>Aag	p.E55K	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	55								p.E55K(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					AACGTGTTCTCGTCCACGAAC	0.597000													6	90					0	0	0.021553	0	0
CPS1	1373	broad.mit.edu	37	2	211481249	211481249	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:211481249C>G	ENST00000233072.5	+	21	2867	c.2671C>G	c.(2671-2673)Ctg>Gtg	p.L891V	CPS1_ENST00000451903.2_Missense_Mutation_p.L440V|CPS1_ENST00000430249.2_Missense_Mutation_p.L897V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	891					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.L891V(1)|p.L897V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAAAAGACACTGAAAGGCCT	0.398000													4	107					0	0	0.014758	0	0
KIF13A	63971	broad.mit.edu	37	6	17987315	17987315	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:17987315G>C	ENST00000378814.5	-	2	115	c.116C>G	c.(115-117)cCt>cGt	p.P39R	KIF13A_ENST00000378826.2_Missense_Mutation_p.P39R|KIF13A_ENST00000378816.5_Missense_Mutation_p.P39R|KIF13A_ENST00000259711.6_Missense_Mutation_p.P39R|KIF13A_ENST00000378843.2_Missense_Mutation_p.P39R|KIF13A_ENST00000502704.1_Missense_Mutation_p.P39R	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	39	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.P39R(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGAAGGAGGAGGGTGCAGGAC	0.562000													9	123					0	0	0.069234	0	0
KRT6A	3853	broad.mit.edu	37	12	52882204	52882204	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:52882204C>T	ENST00000330722.6	-	7	1400	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	444	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.L444L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCCTTCAGCAGCCGGGCCA	0.612000													30	40					0	0	0.045705	0	0
DIS3L2	129563	broad.mit.edu	37	2	233075107	233075107	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:233075107T>A	ENST00000325385.7	+	10	1472	c.1196T>A	c.(1195-1197)cTc>cAc	p.L399H	DIS3L2_ENST00000409307.1_Missense_Mutation_p.L399H|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L399H	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	399							exonuclease activity|ribonuclease activity|RNA binding	p.L399H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCAAGCCACTCGCTGACGGT	0.512000													3	31					0	0	0.115264	0	0
ZNF594	84622	broad.mit.edu	37	17	5086349	5086349	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:5086349C>T	ENST00000399604.4	-	1	1343	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	ZNF594_ENST00000575779.1_Silent_p.E401E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E401E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATATGGTTTCTCTCCTGTAT	0.408000													17	303					0	0	0.033300	0	0
PARD6A	50855	broad.mit.edu	37	16	67696109	67696109	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67696109G>C	ENST00000458121.2	+	3	688	c.597G>C	c.(595-597)ggG>ggC	p.G199G	PARD6A_ENST00000602551.1_Silent_p.G170G|PARD6A_ENST00000219255.3_Silent_p.G200G	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	200	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	p.G200G(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGTACGTGGGGGTCTGGCTG	0.612000													9	83					0	0	0.093190	0	0
KRI1	65095	broad.mit.edu	37	19	10671688	10671688	+	Silent	SNP	C	C	T	rs140755508		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:10671688C>T	ENST00000312962.6	-	8	691	c.672G>A	c.(670-672)ctG>ctA	p.L224L	KRI1_ENST00000361821.5_Silent_p.L220L|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	224	Glu-rich.							p.L224L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCAGTTCCTTCAGGGAATCTG	0.547000													21	42					0	0	0.069288	0	0
CC2D2B	387707	broad.mit.edu	37	10	97775978	97775978	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97775978C>T	ENST00000344386.3	+	6	593	c.429C>T	c.(427-429)atC>atT	p.I143I	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.I143I|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	143								p.I143I(2)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		GTTTAGCTATCGGAAATAAGG	0.418000													15	51					0	0	0.146539	0	0
PMS2P3	5387	broad.mit.edu	37	7	75141699	75141699	+	RNA	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:75141699G>A	ENST00000418756.1	-	0	1124					NR_028059.1															lung(1)	1						AGTTAGGTCGGCAAACTCTTG	0.418000													4	54					0	0	0.009096	0	0
MALT1	10892	broad.mit.edu	37	18	56402448	56402448	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:56402448A>T	ENST00000348428.3	+	13	1748	c.1490A>T	c.(1489-1491)gAa>gTa	p.E497V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.E486V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	497	Caspase-like.				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	p.E497V(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAAGGAGCAGAAGCTTTTGAA	0.323000			T	BIRC3	MALT								23	33					0	0	0.069288	0	0
EXOC3	11336	broad.mit.edu	37	5	462321	462321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:462321G>T	ENST00000512944.1	+	9	1741	c.1552G>T	c.(1552-1554)Gag>Tag	p.E518*	EXOC3_ENST00000315013.5_Nonsense_Mutation_p.E518*	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	529					exocytosis|protein transport			p.E518*(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTGGAAGAGGGTGTGTC	0.547000													12	249					1.61879e-10	1.78277e-10	0.093190	1	0
PAK3	5063	broad.mit.edu	37	X	110435399	110435399	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:110435399A>G	ENST00000372007.5	+	12	1266	c.875A>G	c.(874-876)cAa>cGa	p.Q292R	PAK3_ENST00000425146.1_Missense_Mutation_p.Q292R|PAK3_ENST00000519681.1_Missense_Mutation_p.Q313R|PAK3_ENST00000262836.4_Missense_Mutation_p.Q307R|PAK3_ENST00000518291.1_Missense_Mutation_p.Q328R|PAK3_ENST00000360648.4_Missense_Mutation_p.Q328R|PAK3_ENST00000446737.1_Missense_Mutation_p.Q292R|PAK3_ENST00000417227.1_Missense_Mutation_p.Q313R|PAK3_ENST00000372010.1_Missense_Mutation_p.Q307R	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.Q328R(1)|p.Q292R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAACAGGACAAGAGGTAAGT	0.333000										TSP Lung(19;0.15)			7	173					0	0	0.029380	0	0
ADAM2	2515	broad.mit.edu	37	8	39604118	39604118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:39604118T>A	ENST00000265708.4	-	19	2150	c.2047A>T	c.(2047-2049)Aaa>Taa	p.K683*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.K664*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.K620*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.K527*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	683					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K683*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCATTGGTTTGGAATGGTAA	0.294000													17	106					0	0	0.033300	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101954	9101954	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:9101954G>A	ENST00000377424.4	-	5	640	c.461C>T	c.(460-462)gCc>gTc	p.A154V	SLC2A5_ENST00000535586.1_Missense_Mutation_p.A39V|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A95V|SLC2A5_ENST00000377414.3_Missense_Mutation_p.A154V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	154					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.A154V(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTTAGGGGCCAGCTCCCC	0.537000													5	16					0	0	0.021553	0	0
PARD6A	50855	broad.mit.edu	37	16	67695398	67695398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67695398C>A	ENST00000458121.2	+	2	195	c.104C>A	c.(103-105)tCg>tAg	p.S35*	PARD6A_ENST00000602551.1_Nonsense_Mutation_p.S35*|PARD6A_ENST00000219255.3_Nonsense_Mutation_p.S35*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	p.S35*(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTCGCGCTTCGGTGAGCGGC	0.657000													18	78					1.15919e-05	1.22262e-05	0.049695	1	0
KCND3	3752	broad.mit.edu	37	1	112524482	112524482	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:112524482G>C	ENST00000369697.1	-	1	936	c.867C>G	c.(865-867)ctC>ctG	p.L289L	KCND3_ENST00000315987.2_Silent_p.L289L|KCND3_ENST00000302127.4_Silent_p.L289L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	289						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.L289L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGAAGACCCGGAGCGTGACGA	0.602000													6	54					0	0	0.038147	0	0
CIZ1	25792	broad.mit.edu	37	9	130940682	130940682	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:130940682C>G	ENST00000538431.1	-	9	1833	c.1586G>C	c.(1585-1587)gGa>gCa	p.G529A	CIZ1_ENST00000277465.4_Missense_Mutation_p.G501A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372954.1_Missense_Mutation_p.G449A|CIZ1_ENST00000541172.1_Missense_Mutation_p.G428A|CIZ1_ENST00000372938.5_Missense_Mutation_p.G529A|CIZ1_ENST00000393608.1_Missense_Mutation_p.G529A|CIZ1_ENST00000372948.3_Missense_Mutation_p.G473A|CIZ1_ENST00000325721.8_Missense_Mutation_p.G500A|CIZ1_ENST00000357558.5_Missense_Mutation_p.G501A	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	529						nucleus	nucleic acid binding|protein binding|zinc ion binding	p.G529A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTCACATTCTCCCACATCTAG	0.562000													13	168					0	0	0.033300	0	0
ATP8B3	148229	broad.mit.edu	37	19	1800007	1800007	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:1800007C>A	ENST00000539485.1	-	14	1724	c.1491G>T	c.(1489-1491)acG>acT	p.T497T	ATP8B3_ENST00000310127.6_Silent_p.T497T|ATP8B3_ENST00000525591.1_Silent_p.T450T|ATP8B3_ENST00000526092.2_Silent_p.T444T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	497					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T497T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TGAGCGTGCCCGTCTTGTCCG	0.617000													3	10					0.115264	0.11581	0.115264	1	0
SAMD9	54809	broad.mit.edu	37	7	92732369	92732369	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:92732369C>T	ENST00000379958.2	-	3	3311	c.3042G>A	c.(3040-3042)gaG>gaA	p.E1014E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1014						cytoplasm		p.E1014E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAACAAATTCTCAGTTAGCA	0.373000													72	86					0	0	0.139131	0	0
CDH6	1004	broad.mit.edu	37	5	31317512	31317512	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:31317512G>C	ENST00000265071.2	+	10	1808	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	CDH6_ENST00000514738.1_Missense_Mutation_p.D460H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	515	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D515H(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTGACAAGGATGACCCTTA	0.398000													20	246					0	0	0.069288	0	0
GZMB	3002	broad.mit.edu	37	14	25101100	25101100	+	Silent	SNP	G	G	A	rs149659869	by1000genomes	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:25101100G>A	ENST00000216341.4	-	4	670	c.564C>T	c.(562-564)tgC>tgT	p.C188C	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Silent_p.C143C|GZMB_ENST00000382542.1_Silent_p.C222C|GZMB_ENST00000415355.3_Silent_p.C176C|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000557736.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	188	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.C188C(1)|p.C222C(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGTCCCCCACGCACAACTCAA	0.458000													6	244					0	0	0.021553	0	0
PCSK1	5122	broad.mit.edu	37	5	95743998	95743998	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:95743998C>G	ENST00000311106.3	-	9	1362	c.1125G>C	c.(1123-1125)acG>acC	p.T375T	PCSK1_ENST00000508626.1_Silent_p.T328T|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	375	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	p.T375T(1)		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)	TGTGCGTCTCCGTGCAGTCAT	0.577000													6	20					0	0	0.029380	0	0
HK3	3101	broad.mit.edu	37	5	176323070	176323070	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:176323070C>T	ENST00000292432.5	-	2	182	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	31	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.E31K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTACCAGCTCTGAGCTGTCT	0.587000													19	57					0	0	0.038395	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343831	113343831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:113343831G>C	ENST00000409719.1	+	3	251	c.198G>C	c.(196-198)gaG>gaC	p.E66D	CHCHD5_ENST00000324913.5_Missense_Mutation_p.E66D|CHCHD5_ENST00000489052.1_3'UTR			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	66	CHCH.							p.E66D(1)		NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						AGGCCTTCGAGGAGTGTCTTC	0.632000													3	42					0	0	0.115264	0	0
PDE1C	5137	broad.mit.edu	37	7	31793151	31793151	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:31793151C>T	ENST00000396193.1	-	19	2750	c.2157G>A	c.(2155-2157)ttG>ttA	p.L719L	PDE1C_ENST00000321453.7_Silent_p.L659L|PDE1C_ENST00000396191.1_Silent_p.L659L	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L719L(1)|p.L659L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TAAAATGACGCAAAGGAGGCT	0.483000													42	37					0	0	0.092188	0	0
INSM2	84684	broad.mit.edu	37	14	36003540	36003540	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:36003540C>G	ENST00000307169.3	+	1	293	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L28V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGTCTTCCCTCTGCTGGGGCC	0.687000													14	32					0	0	0.132662	0	0
CHST12	55501	broad.mit.edu	37	7	2472655	2472655	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:2472655G>C	ENST00000258711.6	+	2	516	c.381G>C	c.(379-381)gtG>gtC	p.V127V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	127					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.V127V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGAGGAGCGTGCTGCGGGGCT	0.706000													16	45					0	0	0.132662	0	0
DAB1	1600	broad.mit.edu	37	1	57480687	57480687	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480687C>G	ENST00000371236.2	-	12	1576	c.1313G>C	c.(1312-1314)tGt>tCt	p.C438S	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.C352S|DAB1_ENST00000420954.2_Missense_Mutation_p.C436S|DAB1_ENST00000371234.4_Missense_Mutation_p.C438S|DAB1_ENST00000414851.2_Missense_Mutation_p.C420S|DAB1_ENST00000371231.1_Missense_Mutation_p.C471S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	471					cell differentiation|nervous system development			p.C438S(1)		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						CTCTGAGGTACAGGTGAGGGA	0.547000													9	56					0	0	0.047766	0	0
SNHG14	104472715	broad.mit.edu	37	15	25422031	25422031	+	RNA	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:25422031A>C	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							TGACTTAAAAATCATGCTCAA	0.522000													6	298					0	0	0.029380	0	0
RORC	6097	broad.mit.edu	37	1	151801935	151801935	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151801935C>T	ENST00000392697.3	-	3	231		c.e3-1		RORC_ENST00000318247.6_Splice_Site			P51449	RORG_HUMAN	RAR-related orphan receptor C						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	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGCAGCTCTGTAAAGACA	0.532000													24	99					0	0	0.076483	0	0
CCDC33	80125	broad.mit.edu	37	15	74573023	74573023	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:74573023C>G	ENST00000321288.5	+	11	1513	c.1513C>G	c.(1513-1515)Ccg>Gcg	p.P505A	CCDC33_ENST00000398814.3_Missense_Mutation_p.P302A			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	505							protein binding	p.P302A(1)|p.P505A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGCCAGCCGTGGACCCT	0.582000													7	67					0	0	0.029380	0	0
BBS9	27241	broad.mit.edu	37	7	33384191	33384191	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:33384191A>T	ENST00000242067.6	+	12	1796		c.e12-1		BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.?(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CTGTGTTTACAGCAAGCGACC	0.388000									Bardet-Biedl syndrome				26	94					0	0	0.116897	0	0
FAM63A	55793	broad.mit.edu	37	1	150973046	150973046	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150973046G>T	ENST00000361936.5	-	6	1576	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	FAM63A_ENST00000493834.2_Missense_Mutation_p.L113M|FAM63A_ENST00000312210.5_Missense_Mutation_p.L66M|FAM63A_ENST00000361738.6_Missense_Mutation_p.L256M|FAM63A_ENST00000470877.1_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	208							protein binding	p.L208M(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGACATCCAGACCTGTGGCC	0.493000													14	130					8.60227e-14	9.57313e-14	0.146539	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130413972	130413972	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130413972C>G	ENST00000529410.1	+	19	2080	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S534*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S534*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	534					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S534*(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGCTGGTGTTCAAAAACAGGA	0.408000													23	110					0	0	0.083992	0	0
HRC	3270	broad.mit.edu	37	19	49657670	49657670	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49657670G>T	ENST00000252825.4	-	1	1011	c.825C>A	c.(823-825)ggC>ggA	p.G275G	HRC_ENST00000595625.1_Silent_p.G275G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	275	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.G275G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CAATCCCGTGGCCTTGGTGCC	0.473000													27	44					6.12954e-19	6.83927e-19	0.099896	1	0
PTPN3	5774	broad.mit.edu	37	9	112185044	112185044	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112185044C>G	ENST00000412145.1	-	8	3250	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.E364Q|PTPN3_ENST00000262539.3_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	364	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.E364*(1)|p.E364Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCTTGGTTTCTAAGTGCTCC	0.448000													5	212					0	0	0.021553	0	0
RPAP1	26015	broad.mit.edu	37	15	41817271	41817271	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:41817271C>T	ENST00000304330.4	-	15	2109	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E665K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	665						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.E665K(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCAGCTTCCTCTGGGGGCAAG	0.617000													34	16					0	0	0.069456	0	0
GAB4	128954	broad.mit.edu	37	22	17449260	17449260	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:17449260C>T	ENST00000400588.1	-	5	1058	c.951G>A	c.(949-951)aaG>aaA	p.K317K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	317								p.K317K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGGTGTACTTGCCGGAGG	0.577000													11	45					0	0	0.119110	0	0
PRG4	10216	broad.mit.edu	37	1	186273374	186273374	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:186273374G>C	ENST00000445192.2	+	5	499	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	PRG4_ENST00000367483.4_Missense_Mutation_p.E111Q|PRG4_ENST00000367486.3_Missense_Mutation_p.E152Q|PRG4_ENST00000367484.3_Missense_Mutation_p.E111Q|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	152					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.E152Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TATAGAATCAGAGGAAATAAC	0.398000													6	73					0	0	0.021553	0	0
ERBB4	2066	broad.mit.edu	37	2	212530179	212530179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:212530179G>T	ENST00000342788.4	-	15	2050	c.1740C>A	c.(1738-1740)tgC>tgA	p.C580*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.C580*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.C580*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	580	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.C580C(1)|p.C580*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAAAATGAGAGCACTTTGTAC	0.393000										TSP Lung(8;0.080)			7	59					0.00307968	0.00315407	0.038147	1	0
ARL6IP5	10550	broad.mit.edu	37	3	69153637	69153637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:69153637G>A	ENST00000273258.3	+	3	521	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	139	Targeting to endoplasmic reticulum membrane (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane		p.L139L(1)		biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGCATCGTTGAGACTTCGGA	0.443000													23	759					0	0	0.076483	0	0
INPP5F	22876	broad.mit.edu	37	10	121541205	121541205	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121541205A>G	ENST00000361976.2	+	3	403	c.237A>G	c.(235-237)ggA>ggG	p.G79G	INPP5F_ENST00000369083.3_Silent_p.G79G|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	79							phosphoric ester hydrolase activity	p.G79G(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AACTCCCAGGAGACCATGAGG	0.423000													19	68					0	0	0.038395	0	0
LPHN2	23266	broad.mit.edu	37	1	82432119	82432119	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:82432119G>A	ENST00000370728.1	+	15	2808	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.R721R|LPHN2_ENST00000394879.1_Silent_p.R708R|LPHN2_ENST00000319517.6_Silent_p.R708R|LPHN2_ENST00000370717.2_Silent_p.R721R|LPHN2_ENST00000335786.5_Silent_p.R721R|LPHN2_ENST00000370715.1_Silent_p.R708R|LPHN2_ENST00000370723.1_Silent_p.R708R|LPHN2_ENST00000370713.1_Silent_p.R708R|LPHN2_ENST00000359929.3_Silent_p.R708R|LPHN2_ENST00000370721.1_Silent_p.R646R|LPHN2_ENST00000370727.1_Silent_p.R721R|LPHN2_ENST00000370725.1_Silent_p.R721R|LPHN2_ENST00000271029.4_Silent_p.R721R			O95490	LPHN2_HUMAN	latrophilin 2	721					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R708R(1)|p.R721R(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCATTTACCGGAGCCTGGGAC	0.373000													23	84					0	0	0.076483	0	0
PDE4C	5143	broad.mit.edu	37	19	18330071	18330071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:18330071C>G	ENST00000355502.3	-	12	1810	c.939G>C	c.(937-939)caG>caC	p.Q313H	PDE4C_ENST00000598111.2_Missense_Mutation_p.Q83H|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q281H|PDE4C_ENST00000447275.3_Missense_Mutation_p.Q207H|PDE4C_ENST00000539010.1_Missense_Mutation_p.Q82H|PDE4C_ENST00000597297.1_Missense_Mutation_p.Q83H|PDE4C_ENST00000594465.3_Missense_Mutation_p.Q313H|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.Q313H			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	313					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q313H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCTGGTCAGTCTGGACCCCAA	0.622000													3	56					0	0	0.115264	0	0
FKBP5	2289	broad.mit.edu	37	6	35565137	35565137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35565137C>G	ENST00000542713.1	-	6	710	c.553G>C	c.(553-555)Gat>Cat	p.D185H	FKBP5_ENST00000536438.1_Missense_Mutation_p.D185H|FKBP5_ENST00000357266.4_Missense_Mutation_p.D185H|FKBP5_ENST00000539068.1_Missense_Mutation_p.D185H|FKBP5_ENST00000540787.1_Missense_Mutation_p.D6H	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	185	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.D185H(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGCCACATCTCTGCAGTCA	0.488000													9	98					0	0	0.047766	0	0
SEC31B	25956	broad.mit.edu	37	10	102265919	102265919	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102265919C>G	ENST00000370345.3	-	9	1019	c.922G>C	c.(922-924)Gat>Cat	p.D308H	SEC31B_ENST00000370329.5_Missense_Mutation_p.D311H|SEC31B_ENST00000535773.1_Missense_Mutation_p.D151H|SEC31B_ENST00000451524.1_Missense_Mutation_p.D308H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	308					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.D308H(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACTGCACATCAAAGCACCAG	0.517000													12	98					0	0	0.080935	0	0
MLLT3	4300	broad.mit.edu	37	9	20620762	20620762	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:20620762G>A	ENST00000380338.4	-	2	370	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.F25F	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	28	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.F28F(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AGTCGTGGGTGAAGCCCTCCA	0.602000			T	MLL	ALL								21	119					0	0	0.083992	0	0
CGN	57530	broad.mit.edu	37	1	151506505	151506505	+	Silent	SNP	C	C	A	rs142498835		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151506505C>A	ENST00000271636.7	+	15	2930	c.2797C>A	c.(2797-2799)Cgg>Agg	p.R933R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	927						myosin complex|tight junction	actin binding|motor activity	p.R933R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACACAGCCCGGCTGGACAA	0.637000													4	50					0.00909568	0.00920422	0.009096	1	0
KIF7	374654	broad.mit.edu	37	15	90172769	90172769	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:90172769C>G	ENST00000394412.3	-	17	3430	c.3354G>C	c.(3352-3354)caG>caC	p.Q1118H		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1118					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	p.Q605H(1)|p.Q1118H(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAAGGCAATCTGCTGCTGGT	0.622000													13	61					0	0	0.033300	0	0
STAB1	23166	broad.mit.edu	37	3	52556921	52556921	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:52556921C>T	ENST00000321725.6	+	62	6951	c.6875C>T	c.(6874-6876)tCa>tTa	p.S2292L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2292	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S2292L(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGAACCTCTCAGAACGCTGG	0.617000													4	46					0	0	0.009096	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585836	42585836	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:42585836C>A	ENST00000289957.2	+	4	477	c.349C>A	c.(349-351)Ctc>Atc	p.L117I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	117					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.L117I(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACATAGTTCTCTTTGAAAA	0.398000													14	34					9.31168e-06	9.84577e-06	0.105934	1	0
OR10A5	144124	broad.mit.edu	37	11	6867721	6867721	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:6867721G>C	ENST00000299454.4	+	1	839	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.E274Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E270Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAATTCTCCTGAGAGCAAGAA	0.423000													59	171					0	0	0.139131	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869673	50869673	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:50869673C>G	ENST00000359139.3	+	11	1591	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	PPP6R2_ENST00000216061.5_Silent_p.L399L|PPP6R2_ENST00000395744.3_Silent_p.L399L|PPP6R2_ENST00000395741.3_Silent_p.L400L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	399						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L399L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGCTATTCTCTCCCACGCTG	0.547000													31	100					0	0	0.074837	0	0
NRIP1	8204	broad.mit.edu	37	21	16337647	16337647	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16337647G>C	ENST00000400202.1	-	3	3579	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C	NRIP1_ENST00000318948.4_Missense_Mutation_p.S956C|NRIP1_ENST00000400199.1_Missense_Mutation_p.S956C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	956					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.S956C(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTCAGCCACAGAGTTACTTCT	0.418000													39	193					0	0	0.086207	0	0
ZNF207	7756	broad.mit.edu	37	17	30678830	30678830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:30678830G>A	ENST00000394670.4	+	2	236	c.67G>A	c.(67-69)Gag>Aag	p.E23K	ZNF207_ENST00000394673.2_Missense_Mutation_p.E23K|ZNF207_ENST00000341711.6_Missense_Mutation_p.E23K|ZNF207_ENST00000577908.1_Missense_Mutation_p.E23K|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_Missense_Mutation_p.E26K|ZNF207_ENST00000321233.6_Missense_Mutation_p.E23K	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E23K(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTTGATGATGAGAAGATCCT	0.338000													18	616					0	0	0.043863	0	0
UNC5D	137970	broad.mit.edu	37	8	35541109	35541109	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:35541109C>T	ENST00000287272.2	+	5	635	c.615C>T	c.(613-615)gaC>gaT	p.D205D	UNC5D_ENST00000420357.1_Silent_p.D205D|UNC5D_ENST00000404895.2_Silent_p.D205D|UNC5D_ENST00000453357.2_Silent_p.D200D|UNC5D_ENST00000416672.1_Silent_p.D205D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	205	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.D200D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGAACAAGACGAGAACATTG	0.463000													3	27					0	0	0.009096	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990007	56990007	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990007C>T	ENST00000371250.3	-	3	1068	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	173					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	p.E173K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGTAGCCTTCAGAGCAGTTG	0.537000													44	132					0	0	0.117977	0	0
BMPR2	659	broad.mit.edu	37	2	203420419	203420419	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203420419C>G	ENST00000374580.4	+	12	2570	c.2031C>G	c.(2029-2031)ctC>ctG	p.L677L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	677					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.L677L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATAAGAACCTCAAGGAAAGCT	0.463000													10	68					0	0	0.058154	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126516	37126516	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:37126516G>C	ENST00000336755.5	+	2	293	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.E62Q|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	63							nucleic acid binding|zinc ion binding	p.E63Q(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGGGAATTCGGAATCTTCGAG	0.423000													10	226					0	0	0.058154	0	0
GAD1	2571	broad.mit.edu	37	2	171709254	171709254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:171709254G>C	ENST00000358196.3	+	13	1765	c.1215G>C	c.(1213-1215)aaG>aaC	p.K405N		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	405					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.K405N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCCTCACAAGATGATGGGCG	0.507000													5	28					0	0	0.014758	0	0
RSPH9	221421	broad.mit.edu	37	6	43624433	43624433	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:43624433G>A	ENST00000372165.4	+	4	651	c.598G>A	c.(598-600)Gac>Aac	p.D200N	RSPH9_ENST00000372163.4_Missense_Mutation_p.D215N	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	215					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		p.D200N(1)|p.D215N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGATTTCATGGACTCCTTGGA	0.517000									Kartagener syndrome				10	434					0	0	0.080935	0	0
DAB1	1600	broad.mit.edu	37	1	57480619	57480619	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480619C>A	ENST00000371236.2	-	12	1644	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.D375Y|DAB1_ENST00000420954.2_Missense_Mutation_p.D459Y|DAB1_ENST00000371234.4_Missense_Mutation_p.D461Y|DAB1_ENST00000414851.2_Missense_Mutation_p.D443Y|DAB1_ENST00000371231.1_Missense_Mutation_p.D494Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	494					cell differentiation|nervous system development			p.D461Y(1)		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						ATGTCAAAGTCATCACAGTCG	0.522000													12	69					2.27111e-07	2.43169e-07	0.093190	1	0
KALRN	8997	broad.mit.edu	37	3	124413264	124413264	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:124413264G>A	ENST00000291478.5	+	20	2563	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	KALRN_ENST00000360013.3_Silent_p.R2497R|KALRN_ENST00000428018.2_Silent_p.R768R	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R2497R(1)|p.R800R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTGGGCGGCCAAAGCCCA	0.532000													4	117					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141128375	141128375	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:141128375G>A	ENST00000389484.3	-	71	11883	c.10912C>T	c.(10912-10914)Cgg>Tgg	p.R3638W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3638W(1)		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)		TTTTTGCACCGAAACTGATCT	0.383000										TSP Lung(27;0.18)			4	139					0	0	0.009096	0	0
NPY2R	4887	broad.mit.edu	37	4	156136153	156136153	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:156136153C>A	ENST00000329476.3	+	2	1551	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S	NPY2R_ENST00000506608.1_Silent_p.S354S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	354					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.S354S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGAGGTGTCCGTGACATTCA	0.507000													18	75					1.33834e-09	1.45875e-09	0.043863	1	0
PAGE1	8712	broad.mit.edu	37	X	49454135	49454135	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:49454135C>T	ENST00000376150.3	-	5	436	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	102					cellular defense response			p.E102K(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTATCCGCTTCAGGCTCTGGC	0.353000													29	72					0	0	0.064281	0	0
TP53	7157	broad.mit.edu	37	17	7577122	7577122	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7577122C>T	ENST00000420246.2	-	8	948	c.816G>A	c.(814-816)gtG>gtA	p.V272V	TP53_ENST00000269305.4_Silent_p.V272V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.V272V|TP53_ENST00000455263.2_Silent_p.V272V|TP53_ENST00000359597.4_Silent_p.V272V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V272V(5)|p.?(2)|p.V272>?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACAAACACGCACCTCAAAGC	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	10					0	0	0.047766	0	0
LMOD2	442721	broad.mit.edu	37	7	123302335	123302335	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:123302335T>C	ENST00000458573.2	+	2	852	c.695T>C	c.(694-696)tTt>tCt	p.F232S	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	232						cytoskeleton	actin binding|tropomyosin binding	p.F232S(1)									CTTACCCGCTTTGCTGAAGCC	0.488000													5	21					0	0	0.021553	0	0
TLR5	7100	broad.mit.edu	37	1	223285979	223285979	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223285979G>C	ENST00000540964.1	-	4	856	c.395C>G	c.(394-396)tCt>tGt	p.S132C	TLR5_ENST00000342210.6_Missense_Mutation_p.S132C			O60602	TLR5_HUMAN	toll-like receptor 5	132					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	p.S132C(1)		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)		TACAGCATCAGAGAGACCACA	0.383000													7	91					0	0	0.038147	0	0
KCNK3	3777	broad.mit.edu	37	2	26950989	26950989	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:26950989C>T	ENST00000302909.3	+	2	863	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	246					synaptic transmission	integral to plasma membrane		p.F246F(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCGCTTCATGACCATGA	0.697000													6	4					0	0	0.029380	0	0
TSPAN7	7102	broad.mit.edu	37	X	38534989	38534989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:38534989A>T	ENST00000378482.2	+	5	649	c.472A>T	c.(472-474)Aac>Tac	p.N158Y	TM4SF2_ENST00000465127.1_Missense_Mutation_p.N188Y|TSPAN7_ENST00000545599.1_Missense_Mutation_p.N132Y|TSPAN7_ENST00000422612.2_Missense_Mutation_p.N184Y|TSPAN7_ENST00000286824.6_Missense_Mutation_p.N175Y|TSPAN7_ENST00000488893.1_3'UTR	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	158					interspecies interaction between organisms	integral to plasma membrane		p.N153Y(1)|p.N158Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAACTACACCAACTGGAGCAC	0.483000													23	50					0	0	0.069288	0	0
LRRC7	57554	broad.mit.edu	37	1	70541913	70541913	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:70541913G>A	ENST00000310961.5	+	24	4562	c.4144G>A	c.(4144-4146)Gga>Aga	p.G1382R	LRRC7_ENST00000415775.2_Missense_Mutation_p.G708R|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1424R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1424						centrosome|focal adhesion|nucleolus	protein binding	p.G1424R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGCCACCCGGGGACCTCAGCC	0.468000													5	89					0	0	0.021553	0	0
EP400	57634	broad.mit.edu	37	12	132475243	132475243	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:132475243G>T	ENST00000333577.4	+	10	2830	c.2721G>T	c.(2719-2721)caG>caT	p.Q907H	EP400_ENST00000330386.6_Missense_Mutation_p.Q871H|EP400_ENST00000389561.2_Missense_Mutation_p.Q871H|EP400_ENST00000332482.4_Missense_Mutation_p.Q834H|EP400_ENST00000389562.2_Missense_Mutation_p.Q870H			Q96L91	EP400_HUMAN	E1A binding protein p400	907					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q870H(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TAAATTTACAGAAAGTTTCCA	0.393000													13	51					1.49906e-05	1.57717e-05	0.119110	1	0
DAP3	7818	broad.mit.edu	37	1	155695275	155695275	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:155695275C>G	ENST00000368336.5	+	5	497	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	DAP3_ENST00000421487.2_Missense_Mutation_p.L91V|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000343043.3_Missense_Mutation_p.L125V|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.L84V|DAP3_ENST00000471642.2_Missense_Mutation_p.L84V	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	125					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	p.L125V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TATACGATATCTTCTGTGTAT	0.438000													25	141					0	0	0.144211	0	0
CCDC142	84865	broad.mit.edu	37	2	74709901	74709901	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:74709901G>C	ENST00000393965.3	-	1	460	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	CCDC142_ENST00000290418.4_Missense_Mutation_p.Q22E|CCDC142_ENST00000471713.1_Intron	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	22								p.Q22E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCCCGGGTTGCGCCCTCAGC	0.672000													7	63					0	0	0.029380	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644236	64644236	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:64644236C>A	ENST00000498707.1	-	4	1253	c.911G>T	c.(910-912)aGa>aTa	p.R304I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304I|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	304	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R304I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368000													24	572					1.96895e-08	2.13512e-08	0.076483	1	0
CTSS	1520	broad.mit.edu	37	1	150727584	150727584	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150727584G>A	ENST00000368985.3	-	4	552	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	98					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	p.P98S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGCTGGGAACTCTCAGG	0.408000													8	302					0	0	0.038147	0	0
CEP97	79598	broad.mit.edu	37	3	101481386	101481386	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:101481386C>G	ENST00000341893.3	+	10	2627	c.1875C>G	c.(1873-1875)ttC>ttG	p.F625L	CEP97_ENST00000494050.1_Missense_Mutation_p.F566L|CEP97_ENST00000327230.4_Missense_Mutation_p.F625L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	625	CEP110 binding.					centrosome|nucleus	protein binding	p.F625L(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGAAGCTTTCAGATTCCTTT	0.328000													17	123					0	0	0.038395	0	0
MED7	9443	broad.mit.edu	37	5	156565803	156565803	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:156565803G>C	ENST00000286317.5	-	2	1021	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	MED7_ENST00000420343.1_Missense_Mutation_p.Q214E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	214					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	p.Q214E(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTATAATCTGATCTCTCCTA	0.348000													43	223					0	0	0.131918	0	0
TTN	7273	broad.mit.edu	37	2	179474576	179474576	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179474576C>T	ENST00000589042.1	-	272	51798	c.51574G>A	c.(51574-51576)Gaa>Aaa	p.E17192K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8252K|TTN_ENST00000342992.6_Missense_Mutation_p.E14624K|TTN_ENST00000342175.6_Missense_Mutation_p.E8319K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15551K|TTN_ENST00000460472.2_Missense_Mutation_p.E8127K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15551	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E14624K(2)|p.E8319K(1)|p.E8127K(1)|p.E8252K(1)		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)			TTCCACCTTTCTTCACCCTTA	0.463000													50	486					0	0	0.139131	0	0
VPS13A	23230	broad.mit.edu	37	9	79890500	79890500	+	Silent	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:79890500A>C	ENST00000360280.3	+	25	2859	c.2599A>C	c.(2599-2601)Aga>Cga	p.R867R	VPS13A_ENST00000376636.3_Silent_p.R867R|VPS13A_ENST00000376634.4_Silent_p.R867R|VPS13A_ENST00000357409.5_Silent_p.R867R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	867					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R867R(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTCGAACCAGAAAGTTACA	0.348000													30	170					0	0	0.116897	0	0
ASB17	127247	broad.mit.edu	37	1	76397741	76397741	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:76397741T>C	ENST00000284142.6	-	1	375	c.236A>G	c.(235-237)tAc>tGc	p.Y79C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	79					intracellular signal transduction			p.Y79C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTCAAAACGGTATCCTGATTT	0.378000													15	63					0	0	0.132662	0	0
LAMC3	10319	broad.mit.edu	37	9	133927972	133927972	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:133927972G>C	ENST00000361069.4	+	10	1858	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	575	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.L575L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTACAGCTGAGGCTGGAAG	0.642000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	53					0	0	0.033300	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097589	85097589	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097589G>A	ENST00000335459.5	-	2	634	c.429C>T	c.(427-429)cgC>cgT	p.R143R	TRABD2A_ENST00000409520.2_Silent_p.R143R|TRABD2A_ENST00000409133.1_Silent_p.R143R	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.R143R(2)									GCCCCTTGCCGCGCTGGTCTG	0.582000													27	49					0	0	0.108266	0	0
UBE3B	89910	broad.mit.edu	37	12	109921406	109921406	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:109921406G>A	ENST00000342494.3	+	3	645	c.50G>A	c.(49-51)cGt>cAt	p.R17H	UBE3B_ENST00000340074.5_Missense_Mutation_p.R17H|UBE3B_ENST00000536398.1_Missense_Mutation_p.R17H|UBE3B_ENST00000434735.2_Missense_Mutation_p.R17H|UBE3B_ENST00000540230.1_Missense_Mutation_p.R17H|UBE3B_ENST00000280774.5_Missense_Mutation_p.R17H|UBE3B_ENST00000537063.1_Missense_Mutation_p.R17H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	17					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.R17H(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GATAGAGCCCGTCAGGCACGA	0.542000													4	145					0	0	0.009096	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364473	47364473	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:47364473G>A	ENST00000545968.1	-	16	1419	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	MYBPC3_ENST00000256993.4_Silent_p.L454L|MYBPC3_ENST00000399249.2_Silent_p.L455L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	454	Ig-like C2-type 3.				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	p.L455L(1)		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)		GGCGCGTGATGAGCACAGGGG	0.632000													3	10					0	0	0.115264	0	0
CEP170P1	645455	broad.mit.edu	37	4	119444500	119444500	+	RNA	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:119444500G>A	ENST00000412784.2	+	0	73					NR_003135.2																						CTTGCAGAGCGCTGGATCAGC	0.468000													7	3					0	0	0.047766	0	0
CPXM1	56265	broad.mit.edu	37	20	2777020	2777020	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:2777020A>T	ENST00000380605.2	-	9	1179	c.1115T>A	c.(1114-1116)cTc>cAc	p.L372H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	372	Poly-Leu.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.L372H(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGCATCAGGAGCAGAAGCAA	0.642000													11	86					0	0	0.069234	0	0
COL11A1	1301	broad.mit.edu	37	1	103544384	103544384	+	Silent	SNP	T	T	C	rs150668398		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:103544384T>C	ENST00000358392.2	-	3	635	c.318A>G	c.(316-318)aaA>aaG	p.K106K	COL11A1_ENST00000370096.3_Silent_p.K106K|COL11A1_ENST00000512756.1_Silent_p.K106K|COL11A1_ENST00000353414.4_Silent_p.K106K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	106	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.K106K(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTTTGGTTTTACTGTAA	0.333000													13	39					0	0	0.093190	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097649	85097649	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097649G>A	ENST00000335459.5	-	2	574	c.369C>T	c.(367-369)ctC>ctT	p.L123L	TRABD2A_ENST00000409520.2_Silent_p.L123L|TRABD2A_ENST00000409133.1_Silent_p.L123L	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.L123L(2)									GGTGGCGCTTGAGGCGGCAGT	0.572000													17	26					0	0	0.038395	0	0
EPN3	55040	broad.mit.edu	37	17	48618412	48618412	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:48618412C>T	ENST00000268933.3	+	7	1817	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.S441F	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	413						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	p.S413F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTGGAGACCTCCGACACACCT	0.637000													15	16					0	0	0.033300	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668136	71668136	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:71668136C>T	ENST00000567501.1	+	3	268	c.76C>T	c.(76-78)Cct>Tct	p.P26S	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000268485.3_Silent_p.I212I			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane		p.I212I(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACTTGCTGATCCTGGCCTGCA	0.527000													178	99					0	0	0.139131	0	0
ORMDL1	94101	broad.mit.edu	37	2	190636562	190636562	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:190636562G>C	ENST00000325795.3	-	3	1179	c.393C>G	c.(391-393)ctC>ctG	p.L131L	ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392350.3_Silent_p.L131L|ORMDL1_ENST00000392349.4_Silent_p.L131L			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	131					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		p.L131L(1)		breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GTACACTCAGGAGAGAAGCTG	0.313000													13	88					0	0	0.105934	0	0
ZIC2	7546	broad.mit.edu	37	13	100635308	100635308	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:100635308G>C	ENST00000376335.3	+	1	1283	c.990G>C	c.(988-990)gaG>gaC	p.E330D		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	330					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E330D(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACACAGGCGAGAAACCCTTCC	0.607000													5	114					0	0	0.014758	0	0
STK10	6793	broad.mit.edu	37	5	171523528	171523528	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:171523528G>T	ENST00000176763.5	-	8	1250	c.907C>A	c.(907-909)Ctg>Atg	p.L303M		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	303							ATP binding|protein serine/threonine kinase activity	p.L303M(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCCGCAGAGCCTTGTTA	0.627000													6	124					0.00198382	0.0020416	0.029380	1	0
TGS1	96764	broad.mit.edu	37	8	56715061	56715061	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56715061A>C	ENST00000260129.5	+	9	2372	c.1895A>C	c.(1894-1896)aAt>aCt	p.N632T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	632	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.N632T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			aaaaagGTGAATGGTCTGCCT	0.388000													11	49					0	0	0.069234	0	0
LGALS13	29124	broad.mit.edu	37	19	40095312	40095312	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40095312C>G	ENST00000221797.4	+	2	131	c.86C>G	c.(85-87)tCt>tGt	p.S29C		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	29	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.S29C(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CCAATCCACTCTTTTATGTGA	0.453000													106	140					0	0	0.139131	0	0
HIPK4	147746	broad.mit.edu	37	19	40886914	40886914	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40886914C>T	ENST00000291823.2	-	3	1268	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	328	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.L328L(1)|p.L253L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACTCCCAGGTCAGCATGCGCT	0.647000													4	109					0	0	0.009096	0	0
DISP1	84976	broad.mit.edu	37	1	223177617	223177617	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223177617G>C	ENST00000284476.6	+	8	3042	c.2878G>C	c.(2878-2880)Gaa>Caa	p.E960Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	960					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E960Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCGGCCCCTGAAGGCCTCAG	0.507000													3	47					0	0	0.115264	0	0
VASH1	22846	broad.mit.edu	37	14	77242313	77242313	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:77242313C>T	ENST00000167106.4	+	5	1242	c.609C>T	c.(607-609)cgC>cgT	p.R203R	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	203					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		p.R203>?(1)|p.R203R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ACTACTTCCGCCACATCGTGC	0.632000													3	7					0	0	0.115264	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393000													92	161					0	0	0.139131	0	0
SLC25A10	1468	broad.mit.edu	37	17	79674028	79674028	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:79674028C>G	ENST00000571730.1	+	4	569	c.438C>G	c.(436-438)atC>atG	p.I146M	MRPL12_ENST00000333676.3_Missense_Mutation_p.I146M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.I146M			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.I146M(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGAAGCTGATCAAGGAAATCA	0.582000													5	54					0	0	0.014758	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367379	234367379	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:234367379T>C	ENST00000366618.3	+	3	645	c.500T>C	c.(499-501)tTc>tCc	p.F167S	SLC35F3_ENST00000366617.3_Missense_Mutation_p.F98S	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	98					transport	integral to membrane		p.F167S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GACGCGCCCTTCACCCTCACG	0.587000													17	134					0	0	0.043863	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946980	57946980	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57946980G>A	ENST00000335397.3	+	3	380	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAATATCCTGAATGGGCACT	0.453000													10	144					0	0	0.069234	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641716	106641716	+	RNA	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:106641716C>G	ENST00000390605.2	-	0	256																											TCCATCCCATCCACTCAAGCC	0.547000													8	234					0	0	0.047766	0	0
ELF3	1999	broad.mit.edu	37	1	201981201	201981201	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201981201C>G	ENST00000359651.3	+	2	3472	c.280C>G	c.(280-282)Cga>Gga	p.R94G	ELF3_ENST00000367284.5_Missense_Mutation_p.R94G|ELF3_ENST00000367283.3_Missense_Mutation_p.R94G|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	94	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R94G(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TGACTTCTCACGATGTGACAT	0.582000													7	83					0	0	0.038147	0	0
URGCP	55665	broad.mit.edu	37	7	43917868	43917868	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:43917868C>G	ENST00000336086.6	-	4	3301	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.L355L|URGCP_ENST00000402306.3_Silent_p.L389L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.L398L|URGCP_ENST00000443736.1_Silent_p.L355L|URGCP_ENST00000223341.7_Silent_p.L355L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	398					cell cycle	centrosome|nucleus	GTP binding	p.L398L(1)|p.L355L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGAAATCTCAGGTTTGTGT	0.448000													8	210					0	0	0.058154	0	0
YIPF1	54432	broad.mit.edu	37	1	54343992	54343992	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:54343992G>T	ENST00000072644.1	-	6	696	c.360C>A	c.(358-360)ctC>ctA	p.L120L	YIPF1_ENST00000539954.1_Silent_p.L145L|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	120						integral to membrane|transport vesicle		p.L120L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ACATACCATAGAGATCTGGAT	0.423000													5	172					1.024e-07	1.10759e-07	0.014758	1	0
L1CAM	3897	broad.mit.edu	37	X	153128148	153128148	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:153128148G>A	ENST00000370060.1	-	29	3933	c.3744C>T	c.(3742-3744)tcC>tcT	p.S1248S	L1CAM_ENST00000370057.3_Silent_p.S1248S|L1CAM_ENST00000543994.1_Silent_p.S1250S|L1CAM_ENST00000370055.1_Silent_p.S1239S|L1CAM_ENST00000361981.3_Silent_p.S1239S|L1CAM_ENST00000361699.4_Silent_p.S1244S|L1CAM_ENST00000538883.1_Silent_p.S1246S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1248					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.S1248S(1)		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)					GGTTGATGGGGGAAGTGGCCC	0.607000													4	59					0	0	0.009096	0	0
SGOL2	151246	broad.mit.edu	37	2	201436243	201436243	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:201436243G>C	ENST00000357799.4	+	7	1272	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	392					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.E392Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAACAAATGAACATGGAAT	0.318000													8	46					0	0	0.038147	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217621	119217621	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:119217621G>A	ENST00000494664.1	+	1	243	c.41G>A	c.(40-42)aGa>aAa	p.R14K	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R14K	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	14						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.R14K(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTCTCTGTAGAGCATTGTGC	0.592000													27	196					0	0	0.144211	0	0
INHBA	3624	broad.mit.edu	37	7	41739709	41739709	+	Silent	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:41739709T>C	ENST00000242208.4	-	2	510	c.264A>G	c.(262-264)agA>agG	p.R88R	INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Silent_p.R88R|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	88					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R88R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CATGAAGCTTTCTGATCGCGT	0.522000										TSP Lung(11;0.080)			18	482					0	0	0.049695	0	0
PLCG1	5335	broad.mit.edu	37	20	39802821	39802821	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:39802821G>C	ENST00000373272.2	+	31	4108	c.3703G>C	c.(3703-3705)Gat>Cat	p.D1235H	PLCG1_ENST00000244007.3_Missense_Mutation_p.D1235H|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.D1234H	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1234					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.D1235H(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCGGGGCTCAGATGCCTCAGG	0.597000													9	76					0	0	0.047766	0	0
C16orf62	57020	broad.mit.edu	37	16	19693640	19693640	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:19693640C>T	ENST00000438132.3	+	28	2770	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	C16orf62_ENST00000448695.1_Missense_Mutation_p.R669C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R568C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R815C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R819C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R726C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	819						integral to membrane		p.R819S(1)|p.R908C(1)|p.R819C(1)|p.R908S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGAGAAAATCCGCATCTACAC	0.532000													8	88					0	0	0.047766	0	0
AKAP10	11216	broad.mit.edu	37	17	19861601	19861601	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:19861601A>T	ENST00000225737.6	-	4	760	c.603T>A	c.(601-603)gaT>gaA	p.D201E	AKAP10_ENST00000395536.3_Missense_Mutation_p.D201E	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	201	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	p.D201E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TATCAAGAGAATCAGTTAAAA	0.408000													12	37					0	0	0.093190	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409533	4409533	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4409533T>G	ENST00000301280.5	+	3	838	c.737T>G	c.(736-738)tTg>tGg	p.L246W		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	246	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.L246W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACATCTTGGCTGTGAGA	0.562000								Chromatin Structure					7	32					0	0	0.038147	0	0
CSMD3	114788	broad.mit.edu	37	8	113358347	113358347	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:113358347T>G	ENST00000297405.5	-	41	6665	c.6421A>C	c.(6421-6423)Ata>Cta	p.I2141L	CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101L|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037L|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2141	CUB 12.					integral to membrane|plasma membrane		p.I2141L(1)|p.I2101L(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						GGTAGATTTATTGTCCATGTG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	167					0	0	0.139131	0	0
STIL	6491	broad.mit.edu	37	1	47716998	47717011	+	Frame_Shift_Del	DEL	CTTGGTTTAAGGTT	CTTGGTTTAAGGTT	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:47716998_47717011delCTTGGTTTAAGGTT	ENST00000360380.3	-	18	4024_4037	c.3661_3674delAACCTTAAACCAAG	c.(3661-3675)aaccttaaaccaagtfs	p.NLKPS1221fs	STIL_ENST00000396221.2_Frame_Shift_Del_p.NLKPS1204fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NLKPS1222fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1221					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CACTGCAGGACTTGGTTTAAGGTTCTTTACTAAG	0.402													19	335	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													2	4	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179595762	179595775	+	Frame_Shift_Del	DEL	ACTGTATCAGTGAC	ACTGTATCAGTGAC	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179595762_179595775delACTGTATCAGTGAC	ENST00000589042.1	-	60	17841_17854	c.17617_17630delGTCACTGATACAGT	c.(17617-17631)gtcactgatacagtcfs	p.VTDTV5873fs	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.VTDTV5556fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.VTDTV4629fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5556	Ig-like 39.						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)			CAGTATTGAGACTGTATCAGTGACACTGATTTTA	0.393													17	156	---	---	---	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													9	77	---	---	---	---					
DHTKD1	55526	broad.mit.edu	37	10	12160750	12160750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:12160750delT	ENST00000263035.4	+	15	2467	c.2405delT	c.(2404-2406)gttfs	p.V802fs		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	802					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCAACAGGGTTAAGACCCTC	0.468													22	543	---	---	---	---					
TIGD3	220359	broad.mit.edu	37	11	65124558	65124558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:65124558delC	ENST00000309880.5	+	2	1486	c.1279delC	c.(1279-1281)cccfs	p.P427fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	427					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGCCTTTGAGCCCCTGCCCAC	0.562													48	34	---	---	---	---					
KIAA1551	55196	broad.mit.edu	37	12	32136793	32136794	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32136793_32136794insC	ENST00000312561.4	+	4	3318_3319	c.2904_2905insC	c.(2905-2907)atafs	p.I969fs	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		TTTCACATAAAATATGTGATCA	0.351													10	115	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70072983	70072984	+	RNA	INS	-	-	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:70072983_70072984insT	ENST00000531894.1	-	0	333					NR_003610.1																						GTTGCTTCAAGTTTTTTTTTTT	0.376													2	4	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40342704	40342704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40342704delG	ENST00000301671.8	-	7	1667	c.1226delC	c.(1225-1227)gcafs	p.A409fs	GHDC_ENST00000587427.1_Frame_Shift_Del_p.A409fs|GHDC_ENST00000428494.2_Frame_Shift_Del_p.A370fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.A409fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.A409fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.A409fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	409						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGCCCCACTGCCCGGCCCAG	0.637													20	22	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902	by1000genomes	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:66141032delC	ENST00000590019.1	-	0	70																											AAAAAAAAAACATAAGCCAAA	0.338													7	75	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44941860	44941861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:44941860_44941861insA	ENST00000377967.4	+	21	3225_3226	c.3184_3185insA	c.(3184-3186)gatfs	p.D1062fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.D1069fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.D983fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.D1017fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1062					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGACCACTCAGATAGTGAATCT	0.317			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								44	95	---	---	---	---					
