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
ANKRD26	22852	broad.mit.edu	37	10	27324646	27324646	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:27324646C>T	ENST00000376087.4	-	24	2898	c.2733G>A	c.(2731-2733)tcG>tcA	p.S911S	ANKRD26_ENST00000436985.2_Silent_p.S927S|ANKRD26_ENST00000376070.3_Silent_p.S468S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	910						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATTTTTATGCGATAGGTCTT	0.328000													19	32					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98453743	98453743	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:98453743G>A	ENST00000450876.1	-	4	1678	c.363C>T	c.(361-363)acC>acT	p.T121T	TMEM130_ENST00000339375.4_Silent_p.T205T|TMEM130_ENST00000345589.4_Silent_p.T103T|TMEM130_ENST00000546258.1_Silent_p.T186T|TMEM130_ENST00000416379.2_Silent_p.T205T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	205						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCTTCACGGTGAAGGTCC	0.572000													8	20					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105769024	105769024	+	Silent	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:105769024T>C	ENST00000393127.2	+	7	1202	c.756T>C	c.(754-756)ttT>ttC	p.F252F	GRIA4_ENST00000530497.1_Silent_p.F252F|GRIA4_ENST00000428631.2_Silent_p.F252F|GRIA4_ENST00000282499.5_Silent_p.F252F|GRIA4_ENST00000393125.2_Silent_p.F252F|GRIA4_ENST00000525187.1_Silent_p.F252F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	252					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTGAGAGGTTTATACATGGTG	0.328000													3	57					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	12					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870114	135870114	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:135870114G>A	ENST00000309993.2	-	2	2341	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	MSL2_ENST00000434835.2_Missense_Mutation_p.R463C	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	537					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTAGCGTTACGCACAGCAATG	0.498000													5	272					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735317	55735317	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:55735317G>T	ENST00000312345.2	-	1	673	c.623C>A	c.(622-624)tCt>tAt	p.S208Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTGCCATAAGAGACAACAAT	0.393000													25	42					1.2476e-16	1.32656e-16	1	1	0
NOL10	79954	broad.mit.edu	37	2	10803140	10803140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:10803140G>A	ENST00000345985.3	-	9	732	c.622C>T	c.(622-624)Cga>Tga	p.R208*	NOL10_ENST00000381685.5_Nonsense_Mutation_p.R208*|NOL10_ENST00000542668.1_Nonsense_Mutation_p.R158*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.R182*	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	208						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ACTCTGTTTCGAGTTCTTGGG	0.408000													16	20					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44096355	44096355	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:44096355G>A	ENST00000422989.1	-	3	1850	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	IRGQ_ENST00000602269.1_Silent_p.G565G|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	565	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CAGTGCCCTCGCCCGCCCAGG	0.731000													3	9					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487785	139487785	+	Silent	SNP	G	G	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487785G>T	ENST00000367658.2	+	2	921	c.636G>T	c.(634-636)ggG>ggT	p.G212G	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	212					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAACACAGGGAGGCCTCCTG	0.597000													18	8					6.49762e-13	6.8225e-13	1	1	0
MAFB	9935	broad.mit.edu	37	20	39316685	39316685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr20:39316685T>C	ENST00000373313.2	-	1	1195	c.806A>G	c.(805-807)gAg>gGg	p.E269G	MAFB_ENST00000396967.1_Missense_Mutation_p.E269G	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	269	Leucine-zipper.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CTGCGTCTTCTCATTCTCCAG	0.602000			T	IGH@	MM								37	34					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358599	178358599	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:178358599G>A	ENST00000361362.2	+	5	815	c.285G>A	c.(283-285)atG>atA	p.M95I	ZFP2_ENST00000503510.2_Missense_Mutation_p.M95I|ZFP2_ENST00000520301.1_Missense_Mutation_p.M95I|ZFP2_ENST00000523286.1_Missense_Mutation_p.M95I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTCAAAGAATGTTTGTAGGAA	0.388000													39	40					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592000													5	153					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156035757	156035757	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:156035757G>A	ENST00000361084.5	+	2	340	c.99G>A	c.(97-99)acG>acA	p.T33T	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	33					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGATTCACGCGCAATGAGT	0.582000													33	41					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								57	6					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000													5	80					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892829	79892829	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:79892829C>T	ENST00000337943.5	-	4	955	c.513G>A	c.(511-513)acG>acA	p.T171T	PYCR1_ENST00000403172.4_Silent_p.T171T|PYCR1_ENST00000402252.2_Silent_p.T198T|PYCR1_ENST00000577756.1_Silent_p.T171T|PYCR1_ENST00000329875.8_Silent_p.T171T	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	171					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CACTGAGCCCCGTGACGGCAT	0.697000													17	29					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				15	17					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73575381	73575381	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:73575381C>T	ENST00000339362.5	+	24	3786	c.3339C>T	c.(3337-3339)ggC>ggT	p.G1113G	NEO1_ENST00000558964.1_Silent_p.G1102G|NEO1_ENST00000261908.6_Silent_p.G1113G|NEO1_ENST00000560262.1_Silent_p.G1113G			Q92859	NEO1_HUMAN	neogenin 1	1113					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.G1113G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTCTGTTGGCGTCATCACCA	0.498000													116	199					0	0	1	0	0
THAP10	56906	broad.mit.edu	37	15	71174804	71174804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:71174804C>T	ENST00000249861.4	-	3	1275	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	255							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAACATGTTTCTTCTTTCACC	0.333000													87	106					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27354743	27354743	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:27354743C>T	ENST00000358918.3	-	9	1337	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	APP_ENST00000448388.2_Missense_Mutation_p.E270K|APP_ENST00000440126.3_Missense_Mutation_p.E356K|APP_ENST00000439274.2_Missense_Mutation_p.E324K|APP_ENST00000346798.3_Missense_Mutation_p.E380K|APP_ENST00000359726.3_Missense_Mutation_p.E324K|APP_ENST00000357903.3_Missense_Mutation_p.E361K|APP_ENST00000354192.3_Missense_Mutation_p.E249K|APP_ENST00000348990.5_Missense_Mutation_p.E305K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	380					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCAGGTGTCTCGAGATACTTG	0.473000													28	45					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084813	64084813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:64084813C>T	ENST00000295902.6	-	8	3034	c.2449G>A	c.(2449-2451)Ggc>Agc	p.G817S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G873S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	817						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTGGGGAGGCCGTAGGAGCTG	0.502000													45	9					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504594	157504594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:157504594C>G	ENST00000361835.3	-	8	1648	c.1491G>C	c.(1489-1491)caG>caC	p.Q497H	FCRL5_ENST00000368190.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q497H|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q412H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	497	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGAACCTCTCTGGACTTCAC	0.527000													23	24					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761296	241761296	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:241761296G>A	ENST00000366554.2	-	3	803	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.R154C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	233					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCACACAACGAAGCTGCAGA	0.353000													17	20					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803325	27803325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:27803325C>T	ENST00000408964.2	+	1	3937	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1296										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATCACCAAGCGACTTAGAAA	0.408000													40	63					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136536697	136536697	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr9:136536697G>A	ENST00000371872.4	-	18	2543	c.2286C>T	c.(2284-2286)aaC>aaT	p.N762N	SARDH_ENST00000371868.1_Silent_p.N190N|SARDH_ENST00000439388.1_Silent_p.N762N|SARDH_ENST00000422262.2_Silent_p.N594N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	762					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTACCCTGCGTTGATGAGGC	0.672000													8	5					0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46731384	46731384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:46731384G>A	ENST00000566860.1	+	6	786	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E216K			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	216					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GGAGAAGGTAGAGGAGATGCC	0.318000													21	20					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74072784	74072784	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:74072784A>G	ENST00000329003.3	+	2	526	c.436A>G	c.(436-438)Atc>Gtc	p.I146V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	146					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGCAGCCATCGGGCTCAT	0.682000													18	22					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422472	89422472	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:89422472G>A	ENST00000359595.3	-	4	736	c.522C>T	c.(520-522)aaC>aaT	p.N174N	HAPLN3_ENST00000562889.1_Silent_p.N236N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	174	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.N174N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGTAGCGCCCGTTGGGGGACT	0.657000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	39					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151094797	151094797	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:151094797G>A	ENST00000474524.1	+	28	4080	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	MED12L_ENST00000273432.4_Missense_Mutation_p.E1208K|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1348					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTGTGGCCGAAATGAACAA	0.373000													4	176					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346260	233346260	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:233346260A>G	ENST00000304546.1	-	14	2155	c.1945T>C	c.(1945-1947)Tgc>Cgc	p.C649R	ECEL1_ENST00000409941.1_Missense_Mutation_p.C647R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	649					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGACGATGCACTCAGCCTTT	0.652000													9	15					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113563371	113563371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:113563371A>G	ENST00000358160.4	+	2	541	c.49A>G	c.(49-51)Agc>Ggc	p.S17G	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	17						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGATTCAAGCCTTGCCAC	0.348000													5	331					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46656424	46656424	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:46656424C>T	ENST00000371992.1	-	18	2222	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.T502T|POMGNT1_ENST00000371986.3_Silent_p.T524T|POMGNT1_ENST00000371984.3_Silent_p.T524T	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	524					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CACCTGGAACCGTGTTGAACT	0.552000													8	70					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:156592869C>T	ENST00000302938.4	-	1	406	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	104						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542000													13	54					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538328	31538328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:31538328C>T	ENST00000286808.3	-	1	643	c.608G>A	c.(607-609)cGt>cAt	p.R203H		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	203					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTGTGGCACACGGTAGCCAGG	0.488000													28	36					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51908510	51908510	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:51908510C>T	ENST00000371117.3	-	26	3009	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D912N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	912					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTGGTACATCATTCACTCGC	0.433000													21	38					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240291	171240291	+	Silent	SNP	T	T	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:171240291T>A	ENST00000334231.6	+	12	1284	c.1284T>A	c.(1282-1284)gcT>gcA	p.A428A	MYO3B_ENST00000408978.4_Silent_p.A419A|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.A419A			Q8WXR4	MYO3B_HUMAN	myosin IIIB	419	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGATGCTGCTTACCAGTGCA	0.453000													4	103					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155145426	155145426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:155145426C>A	ENST00000367178.3	+	17	2561	c.1985C>A	c.(1984-1986)tCg>tAg	p.S662*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S728*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S662*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	662	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTCCTGTGTCGATGCCGGTT	0.458000													70	56					4.79706e-38	5.16607e-38	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88423687	88423687	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:88423687T>G	ENST00000297203.2	-	2	755	c.570A>C	c.(568-570)aaA>aaC	p.K190N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	190										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGTGCCTACTTTCATAGTCT	0.433000													58	71					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160099958	160099958	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:160099958C>T	ENST00000361216.3	+	12	1617	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510C|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	510					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCCAGAGCGCATTCTGGA	0.587000													9	115					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128361	147128361	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:147128361G>A	ENST00000282928.4	+	1	1191	c.462G>A	c.(460-462)gcG>gcA	p.A154A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	154					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGGCCACGCGTCGCCTAACG	0.716000													8	48					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150560	2150560	+	Silent	SNP	C	C	T	rs144910188		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:2150560C>T	ENST00000262304.4	-	27	9613	c.9405G>A	c.(9403-9405)acG>acA	p.T3135T	PKD1_ENST00000423118.1_Silent_p.T3135T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3135	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGTGGGCCGTGGTACCTG	0.657000													14	19					0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66281968	66281968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:66281968C>T	ENST00000419755.3	+	4	440	c.362C>T	c.(361-363)gCt>gTt	p.A121V	BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.A84V|BBS1_ENST00000455748.2_Missense_Mutation_p.A84V|BBS1_ENST00000393994.2_Missense_Mutation_p.A84V																							CCGCTACCTGCTCTGCCAGCT	0.607000													95	143					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28413037	28413037	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28413037G>A	ENST00000337532.5	-	9	814	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	MPP7_ENST00000540098.1_Missense_Mutation_p.H180Y|MPP7_ENST00000375732.1_Missense_Mutation_p.H180Y|MPP7_ENST00000445954.2_Missense_Mutation_p.H55Y|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.H180Y	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	180	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCACCAACATGAATAAGACCT	0.363000													81	107					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11728051	11728051	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:11728051C>T	ENST00000361113.5	+	4	941	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGAAAGGACTCACACTGGAGA	0.413000													16	75					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281027	33281027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:33281027G>A	ENST00000434618.2	-	3	781	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	TAPBP_ENST00000426633.2_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.Q146*	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	146					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GGCTCCTGCTGAGGCTCTGGC	0.622000													4	36					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507316	195507316	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195507316G>A	ENST00000463781.3	-	2	11594	c.11135C>T	c.(11134-11136)cCt>cTt	p.P3712L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3712L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	504					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGGTGTG	0.572000													7	13					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786670	50786670	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:50786670C>T	ENST00000263046.4	+	1	232	c.66C>T	c.(64-66)taC>taT	p.Y22Y	TFAP2B_ENST00000393655.3_Silent_p.Y22Y			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	22					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATGTCAAGTACGAAGATATCT	0.453000													25	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468696	179468696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:179468696C>T	ENST00000589042.1	-	282	54942	c.54718G>A	c.(54718-54720)Gtt>Att	p.V18240I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9300I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15672I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9175I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9367I|TTN_ENST00000591111.1_Missense_Mutation_p.V16599I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16599	Fibronectin type-III 32.						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)			TGGTATTTAACGCCTTCAAGC	0.458000													82	110					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205964	32205964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:32205964G>A	ENST00000373658.3	-	12	2314	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	BAI2_ENST00000373655.2_Missense_Mutation_p.S658L|BAI2_ENST00000440175.2_Missense_Mutation_p.S300L|BAI2_ENST00000527361.1_Missense_Mutation_p.S658L|BAI2_ENST00000398538.1_Missense_Mutation_p.S646L|BAI2_ENST00000398556.3_Missense_Mutation_p.S606L|BAI2_ENST00000398542.1_Missense_Mutation_p.S591L|BAI2_ENST00000257070.4_Missense_Mutation_p.S658L|BAI2_ENST00000398547.1_Missense_Mutation_p.S591L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	658					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATCATCAGCCGAGGGCACGTA	0.597000													27	21					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035143	110035143	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:110035143G>C	ENST00000453089.2	+	5	2121	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D445H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D446H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	445							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTCAGTGGCTGATGAACTCCG	0.463000													14	6					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487755	139487755	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487755G>C	ENST00000367658.2	+	2	891	c.606G>C	c.(604-606)aaG>aaC	p.K202N	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	202					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACGAGAAAAAGAAGAAGTCTG	0.582000													24	17					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244284	56244284	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:56244284A>G	ENST00000332836.2	-	2	940	c.913T>C	c.(913-915)Tcg>Ccg	p.S305P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding	p.S305T(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGAAATACGACTTCTTTTCA	0.388000													62	78					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397963	125397963	+	Silent	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:125397963A>G	ENST00000536769.1	-	1	1931	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.L119L|UBC_ENST00000339647.5_Silent_p.L119L			P0CG48	UBC_HUMAN	ubiquitin C	119	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCAAAGATCAACCTCTGCTGG	0.552000													5	264					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38308959	38308959	+	Silent	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:38308959T>C	ENST00000399120.1	-	5	2016	c.786A>G	c.(784-786)gcA>gcG	p.A262A	HLCS_ENST00000336648.3_Silent_p.A262A	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	262					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTTGTGCAGTGCACCCTTGC	0.547000													29	41					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542844	55542844	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:55542844C>A	ENST00000220676.1	+	4	6550	c.6402C>A	c.(6400-6402)ttC>ttA	p.F2134L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2134					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATCTTTTCATTTGGGAAG	0.318000													4	89					0.00909568	0.00909568	1	1	0
ANK1	286	broad.mit.edu	37	8	41555570	41555570	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:41555570C>T	ENST00000396942.1	-	24	2711	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	ANK1_ENST00000347528.4_Silent_p.E876E|ANK1_ENST00000396945.1_Silent_p.E876E|ANK1_ENST00000265709.8_Silent_p.E917E|ANK1_ENST00000289734.7_Silent_p.E876E|ANK1_ENST00000379758.2_Silent_p.E876E|ANK1_ENST00000352337.4_Silent_p.E876E			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	876					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGCTCCTGCTCTTCTGACC	0.557000													14	17					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582000													5	161					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905158	28905158	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28905158C>G	ENST00000375664.3	+	12	2087	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	WAC_ENST00000347934.4_Nonsense_Mutation_p.S435*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S386*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S538*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	538					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGTAATGCATCAAATGCAACA	0.393000													45	70					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347444	48347444	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:48347444G>A	ENST00000319856.4	+	1	973	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGAAATGAAGAGGTAAAAAA	0.323000													8	74					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135203152	135203152	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:135203152G>A	ENST00000278060.5	+	6	1376	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	569					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAGCGCCCCGTACACTAGGG	0.682000													27	19					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640250	99640250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:99640250C>T	ENST00000547776.2	-	13	2148	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.G297R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G717R|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	717						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTTATTCTCCCCAGAGTACAG	0.463000													25	33					0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175213374	175213374	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:175213374C>G	ENST00000342016.3	-	10	1296	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	402	Arg/Ser-rich (RS domain).				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTCCTTGTCTCCCTTTGCTTG	0.517000													66	80					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9549107	9549107	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:9549107A>G	ENST00000396602.2	+	16	1983	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	ZNF143_ENST00000396604.1_Missense_Mutation_p.I621V|ZNF143_ENST00000396597.3_Missense_Mutation_p.I591V|ZNF143_ENST00000299606.2_Missense_Mutation_p.I594V|ZNF143_ENST00000530463.1_Missense_Mutation_p.I621V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	622					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GGAAGAAGCCATCAGAATAGC	0.423000													53	76					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077597	32077597	+	RNA	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:32077597C>G	ENST00000354689.6	+	0	212				RP11-1166P10.6_ENST00000566806.1_RNA																							TTCACCATCTCCAGGGACAAC	0.512000													170	383					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													10	155					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78355400	78355400	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:78355400G>C	ENST00000582970.1	+	57	13994	c.13851G>C	c.(13849-13851)caG>caC	p.Q4617H	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q2690H|RNF213_ENST00000508628.2_Missense_Mutation_p.Q4666H|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.Q4666Q(1)|p.Q2690Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTTCTGCAGCAGCACATCC	0.572000													26	38					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112884355	112884355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:112884355C>T	ENST00000161863.4	+	11	1826	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S538L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	538							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAAAGCATCAAATGGCTGG	0.353000													44	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474651	82474651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:82474651G>A	ENST00000423517.2	-	13	14319	c.13982C>T	c.(13981-13983)tCc>tTc	p.S4661F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4661F|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4549	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGGGAACGGAACTGGATCC	0.517000													12	22					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632000													5	264					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													4	7	---	---	---	---					
RGS17	26575	broad.mit.edu	37	6	153365075	153365077	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:153365075_153365077delTGT	ENST00000367225.2	-	1	101_103	c.77_79delACA	c.(76-81)acc>a	p.NT26del	RGS17_ENST00000206262.1_In_Frame_Del_p.NT26del			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	26					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGCAACAGGTGTTGTTGGGCCT	0.517													37	119	---	---	---	---					
CBX3P2	645158	broad.mit.edu	37	18	2652677	2652678	+	RNA	DEL	AC	AC	-			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr18:2652677_2652678delAC	ENST00000579647.1	-	0	919_920					NR_033754.2																						CCTAGGTTTTACACACACACAC	0.342													2	4	---	---	---	---