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
TPTE	7179	broad.mit.edu	37	21	10910382	10910382	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10910382T>C	ENST00000298232.7	-	21	1687	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	TPTE_ENST00000342420.5_Silent_p.T420T|TPTE_ENST00000361285.4_Silent_p.T458T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	458	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGTCTGTTGTAATGTTAT	0.338000													6	107					0	0	0.000978159	0	0
CSH2	1443	broad.mit.edu	37	17	61949685	61949685	+	Splice_Site	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:61949685T>A	ENST00000392886.2	-	5	608		c.e5-2		CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2						female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TTCCAGCCTCTGCAAAGTGAA	0.547000													42	61					0	0	0.00361006	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629194	1629194	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629194C>A	ENST00000399685.1	-	1	499	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGATGACCCACAGCCTGAGGA	0.632000													97	150					8.75711e-35	3.34109e-34	0.00361006	1	0
PRKACB	5567	broad.mit.edu	37	1	84668432	84668432	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:84668432C>T	ENST00000370689.2	+	8	973	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PRKACB_ENST00000394838.2_Missense_Mutation_p.P244S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237S|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284S|PRKACB_ENST00000370680.1_Missense_Mutation_p.P243S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	237	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AGCTGGCTATCCCCCATTCTT	0.373000													39	52					0	0	0.00170553	0	0
FAM136A	84908	broad.mit.edu	37	2	70527991	70527991	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:70527991C>T	ENST00000037869.3	-	2	287	c.209G>A	c.(208-210)aGt>aAt	p.S70N	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.S177N	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	70						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCCAGCTCACTGGTGACCAA	0.522000													65	145					0	0	0.00361006	0	0
PASD1	139135	broad.mit.edu	37	X	150840134	150840134	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150840134G>T	ENST00000370357.4	+	13	1565	c.1320G>T	c.(1318-1320)ggG>ggT	p.G440G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	440						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACACGCTGGGCAAGTGAAGC	0.493000													64	79					1.88225e-35	7.20428e-35	0.00361006	1	0
OR6K2	81448	broad.mit.edu	37	1	158669657	158669657	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158669657G>A	ENST00000359610.2	-	1	829	c.786C>T	c.(784-786)cgC>cgT	p.R262R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGCAGAGAAGCGTAGGTACA	0.478000													16	32					0	0	0.00316338	0	0
OR4A5	81318	broad.mit.edu	37	11	51411675	51411675	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:51411675T>A	ENST00000319760.6	-	1	773	c.721A>T	c.(721-723)Agt>Tgt	p.S241C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAACGGTACTGCCGGAGCTG	0.398000													18	25					0	0	0.00074312	0	0
NLRP14	338323	broad.mit.edu	37	11	7068026	7068026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:7068026G>T	ENST00000299481.4	+	5	2432	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	696					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCTGCATCATGAACTAAGGCA	0.373000													36	59					1.36161e-19	4.66061e-19	0.00428921	1	0
ABCA4	24	broad.mit.edu	37	1	94485286	94485286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:94485286G>A	ENST00000370225.3	-	36	5134	c.5048C>T	c.(5047-5049)gCc>gTc	p.A1683V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1683			Missing (in STGD1; highly reduced ATP- binding capacity).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1683V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACGCAGATGGCAACCACAGC	0.522000													7	21					0	0	0.000274275	0	0
SERINC5	256987	broad.mit.edu	37	5	79498804	79498804	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:79498804G>C	ENST00000507668.2	-	2	246	c.96C>G	c.(94-96)tcC>tcG	p.S32S	SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000509193.1_Silent_p.S32S|SERINC5_ENST00000512721.1_Silent_p.S32S|SERINC5_ENST00000512972.2_Silent_p.S32S	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGGTGCTGAGGGACTGCCGAA	0.552000													7	5					0	0	0.00198382	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377755	125377755	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125377755G>A	ENST00000297913.2	+	1	808	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CCACCTCACTGTGGTGGCCAT	0.547000													44	72					0	0	0.00361006	0	0
KARS	3735	broad.mit.edu	37	16	75675607	75675607	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:75675607C>A	ENST00000319410.5	-	3	282	c.161G>T	c.(160-162)cGc>cTc	p.R54L	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R26L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	26					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGCTTTCAGGCGTCTCTTCAG	0.478000													30	26					7.01153e-11	2.17612e-10	0.00127121	1	0
SI	6476	broad.mit.edu	37	3	164704993	164704993	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164704993G>A	ENST00000264382.3	-	45	5192	c.5130C>T	c.(5128-5130)ctC>ctT	p.L1710L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1710	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGCAACAATGAGCTTCATGT	0.348000										HNSCC(35;0.089)			51	16					0	0	0.00361006	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:176738746G>A	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453000													13	39					0	0	0.00136819	0	0
DOCK9	23348	broad.mit.edu	37	13	99540717	99540717	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:99540717A>T	ENST00000376460.1	-	17	1954	c.1874T>A	c.(1873-1875)gTg>gAg	p.V625E	DOCK9_ENST00000339416.2_Missense_Mutation_p.V626E|DOCK9_ENST00000448493.2_Missense_Mutation_p.V637E|DOCK9_ENST00000442173.1_Missense_Mutation_p.V625E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	626					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATGCAGGGCACAAATTCCTC	0.383000													107	37					0	0	0.00361006	0	0
MLPH	79083	broad.mit.edu	37	2	238449173	238449173	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:238449173G>T	ENST00000264605.3	+	10	1581	c.1287G>T	c.(1285-1287)ccG>ccT	p.P429P	MLPH_ENST00000445024.2_Silent_p.P429P|MLPH_ENST00000409373.1_Silent_p.P361P|MLPH_ENST00000338530.4_Silent_p.P401P|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.P286P	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	429							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGCGGACCCGGAGGTAAGAC	0.637000													13	9					5.50884e-06	1.50675e-05	0.00136819	1	0
ZBTB16	7704	broad.mit.edu	37	11	114027108	114027108	+	Silent	SNP	C	C	A	rs141621748		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:114027108C>A	ENST00000335953.4	+	3	1698	c.1318C>A	c.(1318-1320)Cgg>Agg	p.R440R	ZBTB16_ENST00000392996.2_Silent_p.R440R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	440					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGCGGGAAGCGGTTCCTGGA	0.552000													18	47					0.000958276	0.00249027	0.000958276	1	0
NOV	4856	broad.mit.edu	37	8	120430512	120430512	+	Silent	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:120430512A>T	ENST00000259526.3	+	3	752	c.525A>T	c.(523-525)ccA>ccT	p.P175P		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	175					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGTGGCCCAGATGAGGAGG	0.502000													50	78					0	0	0.00361006	0	0
FUT9	10690	broad.mit.edu	37	6	96651430	96651430	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651430G>C	ENST00000302103.5	+	3	725	c.399G>C	c.(397-399)tgG>tgC	p.W133C		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	133					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATGGATTTGGATGAATTTGG	0.458000													15	25					0	0	0.00244969	0	0
JMJD1C	221037	broad.mit.edu	37	10	64944479	64944479	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:64944479T>A	ENST00000399262.2	-	21	7068	c.6850A>T	c.(6850-6852)Agt>Tgt	p.S2284C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S2047C|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S2102C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2284	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGGCAGACTTTTTAAAAGA	0.333000													16	26					0	0	0.00400662	0	0
OR4C3	256144	broad.mit.edu	37	11	48346810	48346810	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:48346810C>A	ENST00000319856.4	+	1	339	c.318C>A	c.(316-318)ctC>ctA	p.L106L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	79					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						CTCCTAAACTCATTGCTGACT	0.463000													31	241					4.16155e-14	1.34744e-13	0.00195071	1	0
VEPH1	79674	broad.mit.edu	37	3	157146252	157146252	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:157146252T>C	ENST00000362010.2	-	5	862	c.555A>G	c.(553-555)ttA>ttG	p.L185L	VEPH1_ENST00000543418.1_Silent_p.L185L|VEPH1_ENST00000392833.2_Silent_p.L185L|VEPH1_ENST00000392832.2_Silent_p.L185L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	185						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAGCAGGTAACACTCTCA	0.428000													40	11					0	0	0.00222228	0	0
CAB39L	81617	broad.mit.edu	37	13	49957001	49957001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:49957001C>A	ENST00000355854.4	-	2	543	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	16					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.E16*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TTCACAATTTCTGCTGGATTT	0.308000													60	21					6.20203e-27	2.27218e-26	0.00361006	1	0
SI	6476	broad.mit.edu	37	3	164766984	164766984	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164766984A>G	ENST00000264382.3	-	15	1708	c.1646T>C	c.(1645-1647)gTg>gCg	p.V549A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	549	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAGTTCTGCACAGCATCCAT	0.338000										HNSCC(35;0.089)			14	27					0	0	0.00316338	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678717	98678717	+	Splice_Site	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:98678717G>A	ENST00000288985.7	+	6	1496		c.e6+1		ERCC6L2_ENST00000466840.1_Splice_Site|ERCC6L2_ENST00000437817.1_Splice_Site	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2						DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GGAAGACCGGGTAAGAACCGC	0.383000													26	37					0	0	0.000878237	0	0
GRM1	2911	broad.mit.edu	37	6	146755774	146755774	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146755774C>T	ENST00000361719.2	+	9	3897	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1143S|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1143	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGATGATTCGCCTGCGCTGAC	0.662000													41	45					0	0	0.00148497	0	0
NKRF	55922	broad.mit.edu	37	X	118723982	118723982	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:118723982A>T	ENST00000371527.1	-	2	2058	c.1406T>A	c.(1405-1407)gTc>gAc	p.V469D	NKRF_ENST00000304449.5_Missense_Mutation_p.V469D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V484D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	469					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CCTTTCATAGACATACTCAAC	0.403000													52	92					0	0	0.00361006	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512000													7	241					0.00307968	0.00791729	0.00307968	1	0
OR1B1	347169	broad.mit.edu	37	9	125391641	125391641	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125391641G>A	ENST00000304833.3	-	1	211	c.174C>T	c.(172-174)caC>caT	p.H58H	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACATGGGTGAGTGCAGTCTGG	0.522000													20	37					0	0	0.000958276	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210334	3210334	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:3210334G>A	ENST00000380059.3	-	14	1808	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	SLC4A11_ENST00000380056.3_Silent_p.A542A|SLC4A11_ENST00000539553.1_Silent_p.A526A|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	542	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGTTGAGGCTGGCGCCGAGGC	0.612000													26	26					0	0	0.00395357	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370044	20370044	+	RNA	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:20370044G>A	ENST00000593655.1	-	0	199																											AGGATGATGCGGAAAAACTTC	0.423000													20	13					0	0	0.00121646	0	0
ART4	420	broad.mit.edu	37	12	14996007	14996007	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:14996007G>T	ENST00000228936.4	-	1	422	c.41C>A	c.(40-42)cCa>cAa	p.P14Q	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	14					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TACAGTAGTTGGGAGAAGAAT	0.507000													74	51					2.10938e-32	7.99695e-32	0.00361006	1	0
AOX1	316	broad.mit.edu	37	2	201507394	201507394	+	Missense_Mutation	SNP	G	G	A	rs139407288		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201507394G>A	ENST00000374700.2	+	25	2958	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	906					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCCGCTGCCGGGGTTGGGCA	0.473000													22	37					0	0	0.00188189	0	0
HHIPL1	84439	broad.mit.edu	37	14	100119179	100119179	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:100119179G>A	ENST00000330710.5	+	2	972	c.874G>A	c.(874-876)Gag>Aag	p.E292K	HHIPL1_ENST00000357223.2_Missense_Mutation_p.E292K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	292					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGGATGACGAGAACGCCGT	0.607000													12	9					0	0	0.00136819	0	0
NEDD4	4734	broad.mit.edu	37	15	56130375	56130375	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:56130375G>C	ENST00000508342.1	-	19	3687	c.3388C>G	c.(3388-3390)Cat>Gat	p.H1130D	NEDD4_ENST00000338963.2_Missense_Mutation_p.H1058D|NEDD4_ENST00000506154.1_Missense_Mutation_p.H1114D|NEDD4_ENST00000435532.3_Missense_Mutation_p.H711D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1130	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCATGTTGATGTGTCTAAAAT	0.244000													2	9					0	0	6.4e-05	0	0
ZNF641	121274	broad.mit.edu	37	12	48738456	48738456	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:48738456T>C	ENST00000544117.2	-	5	1196	c.488A>G	c.(487-489)gAa>gGa	p.E163G	ZNF641_ENST00000448928.3_Missense_Mutation_p.E140G|ZNF641_ENST00000547026.1_Missense_Mutation_p.E149G|ZNF641_ENST00000301042.3_Missense_Mutation_p.E163G			Q96N77	ZN641_HUMAN	zinc finger protein 641	163	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTCCTCCTTCTAGTTGAGA	0.438000													68	13					0	0	0.00361006	0	0
MID2	11043	broad.mit.edu	37	X	107097876	107097876	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107097876G>C	ENST00000262843.6	+	3	1306	c.758G>C	c.(757-759)cGc>cCc	p.R253P	MID2_ENST00000443968.2_Missense_Mutation_p.R253P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	253						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTGGTTAAGCGCAACAGCGAA	0.448000													33	47					0	0	0.00327116	0	0
OTOA	146183	broad.mit.edu	37	16	21742247	21742247	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21742247C>T	ENST00000388958.3	+	20	2298	c.2297C>T	c.(2296-2298)aCa>aTa	p.T766I	OTOA_ENST00000388957.3_Missense_Mutation_p.T442I|OTOA_ENST00000388956.4_Missense_Mutation_p.T687I|OTOA_ENST00000286149.4_Missense_Mutation_p.T780I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	780					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTATAGCCACAAAGGTAATG	0.453000													24	27					0	0	0.000720815	0	0
MGMT	4255	broad.mit.edu	37	10	131557583	131557583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:131557583G>C	ENST00000306010.7	+	4	517	c.485G>C	c.(484-486)gGa>gCa	p.G162A		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	162										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CGAGCAGTGGGAGGAGCAATG	0.562000								Direct reversal of damage					23	40					0	0	0.00332997	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323385	135323385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:135323385C>G	ENST00000316077.9	-	5	689	c.469G>C	c.(469-471)Gat>Cat	p.D157H	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D157H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D139H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	157						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGATAATCATCAGCAAGTCTC	0.328000													23	36					0	0	0.000720815	0	0
COLGALT1	79709	broad.mit.edu	37	19	17679367	17679367	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:17679367G>T	ENST00000252599.4	+	5	794	c.674G>T	c.(673-675)cGc>cTc	p.R225L	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		AAGCGAGACCGCCGGGGCTGC	0.617000													25	43					1.77063e-15	5.90868e-15	0.000878237	1	0
MUSK	4593	broad.mit.edu	37	9	113459720	113459720	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:113459720C>T	ENST00000416899.2	+	5	728	c.602C>T	c.(601-603)tCc>tTc	p.S201F	MUSK_ENST00000374439.1_Missense_Mutation_p.S83F|MUSK_ENST00000374440.3_Missense_Mutation_p.S83F|MUSK_ENST00000374448.4_Missense_Mutation_p.S201F|MUSK_ENST00000189978.5_Missense_Mutation_p.S201F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	201	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACAGCATATTCCAAAGTGGTG	0.507000													46	42					0	0	0.0025221	0	0
PER1	5187	broad.mit.edu	37	17	8044497	8044497	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8044497G>A	ENST00000317276.4	-	23	3999	c.3762C>T	c.(3760-3762)gcC>gcT	p.A1254A	PER1_ENST00000581082.1_Silent_p.A1231A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1254	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGCCTTGGGCCTCCTCGC	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					118	56					0	0	0.00361006	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27898488	27898488	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27898488G>A	ENST00000326019.6	+	6	1717	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	479						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGGCCTGATTGAGAAGAAGCG	0.413000													12	36					0	0	0.00185496	0	0
CIB4	130106	broad.mit.edu	37	2	26852280	26852280	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:26852280G>T	ENST00000288861.4	-	3	237	c.184C>A	c.(184-186)Cgg>Agg	p.R62R		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	62	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCAGAGCTGGC	0.622000													4	9					0.000602214	0.00157179	0.000602214	1	0
PABPC5	140886	broad.mit.edu	37	X	90690670	90690670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:90690670G>T	ENST00000312600.3	+	2	308	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	32	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGTCACCGAGGACATGCTCTA	0.567000													13	28					4.36969e-10	1.34573e-09	0.00185496	1	0
ACKR3	57007	broad.mit.edu	37	2	237489774	237489774	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:237489774C>T	ENST00000272928.3	+	2	976	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TGGGCTTTGCCGTTCCCTTCT	0.567000													52	53					0	0	0.00361006	0	0
MAPRE2	10982	broad.mit.edu	37	18	32706962	32706962	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:32706962C>T	ENST00000436190.2	+	6	899	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	MAPRE2_ENST00000300249.5_Missense_Mutation_p.P221S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P168S|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P221S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	221	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACCTTCTCGACCCTCATCAGC	0.418000													66	33					0	0	0.00361006	0	0
DSCR9	257203	broad.mit.edu	37	21	38593591	38593591	+	RNA	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:38593591C>A	ENST00000454482.2	+	0	1198					NR_026719.2																						GATCCACCTCCCGCCAGGGTG	0.682000													18	31					3.32936e-07	9.38488e-07	0.00074312	1	0
MYOM1	8736	broad.mit.edu	37	18	3129467	3129467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:3129467C>A	ENST00000356443.4	-	18	2890	c.2557G>T	c.(2557-2559)Gga>Tga	p.G853*	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.G853*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	853						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGTTAGTCCACCAGGCTCA	0.567000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	64					8.04919e-23	2.84452e-22	0.00361006	1	0
DCHS2	54798	broad.mit.edu	37	4	155161859	155161859	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:155161859G>T	ENST00000357232.3	-	23	5823	c.5824C>A	c.(5824-5826)Cag>Aag	p.Q1942K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1942	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGTGTTCTGATCAATAGCA	0.383000													26	24					7.4402e-23	2.63709e-22	0.00395357	1	0
KIF19	124602	broad.mit.edu	37	17	72348368	72348368	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:72348368G>T	ENST00000389916.4	+	14	2007	c.1869G>T	c.(1867-1869)ctG>ctT	p.L623L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	623					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTACAACCTGGCCGTCCCGC	0.687000													9	30					3.09899e-07	8.75609e-07	0.000274275	1	0
LPPR3	79948	broad.mit.edu	37	19	813188	813188	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:813188G>A	ENST00000359894.2	-	7	1686	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	LPPR3_ENST00000520876.3_Silent_p.A513A	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		513						integral to membrane	phosphatidate phosphatase activity										CGCGCACCCCGGCGCCGCTTT	0.746000													8	9					0	0	0.000274275	0	0
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	G	A	rs141451236		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677000													29	56					0	0	0.00106085	0	0
LCE2B	26239	broad.mit.edu	37	1	152659536	152659536	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152659536C>T	ENST00000368780.3	+	2	271	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	LCE2B_ENST00000417924.2_Silent_p.L73L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	73	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTGCCTGAGCCACCA	0.662000													102	119					0	0	0.00361006	0	0
TRIM39	56658	broad.mit.edu	37	6	30297214	30297214	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30297214C>T	ENST00000376659.5	+	3	718	c.120C>T	c.(118-120)gtC>gtT	p.V40V	TRIM39_ENST00000396551.3_Silent_p.V40V|TRIM39_ENST00000396547.1_Silent_p.V40V|TRIM39_ENST00000376656.4_Silent_p.V40V|TRIM39_ENST00000540416.1_Silent_p.V40V|TRIM39_ENST00000396548.1_Silent_p.V40V	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						AGGAACCTGTCATCATTGAGT	0.562000													141	114					0	0	0.00361006	0	0
ACOT4	122970	broad.mit.edu	37	14	74060510	74060510	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:74060510C>T	ENST00000326303.4	+	2	816	c.562C>T	c.(562-564)Cta>Tta	p.L188L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	188				ALAY -> DLQS (in Ref. 1; BAC04313).	acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACGTTGGCTCTAGCTTATTA	0.493000													49	16					0	0	0.00361006	0	0
ELTD1	64123	broad.mit.edu	37	1	79403499	79403499	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:79403499C>A	ENST00000370742.3	-	6	816	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	251					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACCTATATCCGTTGAATTTG	0.383000													34	75					2.20474e-14	7.17737e-14	0.00375469	1	0
OR14C36	127066	broad.mit.edu	37	1	248512790	248512790	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248512790C>G	ENST00000317861.1	+	1	714	c.714C>G	c.(712-714)acC>acG	p.T238T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCTTTTCCACCTGCATCCCTC	0.522000													34	48					0	0	0.00375469	0	0
CUBN	8029	broad.mit.edu	37	10	17165686	17165686	+	Silent	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:17165686A>T	ENST00000377833.4	-	5	455	c.390T>A	c.(388-390)acT>acA	p.T130T	CUBN_ENST00000377823.1_Silent_p.T130T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	130					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			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)	TTTTGTCAACAGTCTGAAACA	0.443000													6	5					0	0	0.00307968	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906246	144906246	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:144906246G>T	ENST00000370490.1	+	1	6558	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S768I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	768						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCCCAGCGCAGGCCTA	0.463000													77	132					3.4779e-39	1.34404e-38	0.00361006	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513215	70513215	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:70513215C>T	ENST00000503640.1	-	1	203	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	UGT2A1_ENST00000514019.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V50M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	50					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGACAGTCACATTATGCTCC	0.393000													17	24					0	0	0.000566183	0	0
DCDC1	341019	broad.mit.edu	37	11	31086589	31086589	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:31086589G>T	ENST00000597505.1	-	17	2409	c.2410C>A	c.(2410-2412)Cat>Aat	p.H804N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTCTGCCATGTTCCTGATGA	0.423000													17	29					4.35082e-09	1.30634e-08	0.00152264	1	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)		CATCTCGAAGCGCTCACGCCC	0.527000		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)			20	11					1.9806e-07	5.64942e-07	0.00229938	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919600	12919600	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12919600G>C	ENST00000240189.2	+	3	427	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	114										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTCTGGGCCAGATGGCC	0.557000													149	238					0	0	0.00361006	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168919	60168919	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:60168919G>T	ENST00000261187.4	+	4	1007	c.843G>T	c.(841-843)tcG>tcT	p.S281S	SLC16A7_ENST00000552432.1_Silent_p.S281S|SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000543448.1_Silent_p.S182S|SLC16A7_ENST00000552024.1_Silent_p.S281S	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	281						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGAGTACTCGGCAGCTTTTC	0.383000													78	16					9.63364e-24	3.45542e-23	0.00361006	1	0
MS4A14	84689	broad.mit.edu	37	11	60183525	60183525	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:60183525T>A	ENST00000300187.6	+	5	1361	c.1084T>A	c.(1084-1086)Tcc>Acc	p.S362T	MS4A14_ENST00000531783.1_Missense_Mutation_p.S395T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S345T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S250T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	362						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGcatactatcccaagacac	0.448000													14	14					0	0	0.00244969	0	0
MYO7A	4647	broad.mit.edu	37	11	76870542	76870542	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:76870542G>C	ENST00000409709.3	+	10	1325	c.1053G>C	c.(1051-1053)tcG>tcC	p.S351S	MYO7A_ENST00000458637.2_Silent_p.S351S|MYO7A_ENST00000409893.1_Silent_p.S351S|MYO7A_ENST00000409619.2_Silent_p.S340S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	351	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCCCCATCGCTGGCCACAG	0.587000													33	42					0	0	0.000953801	0	0
UNC13A	23025	broad.mit.edu	37	19	17766748	17766748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:17766748G>T	ENST00000428389.2	-	11	1490	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	UNC13A_ENST00000252773.7_Missense_Mutation_p.D409E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D409E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D409E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D409E|UNC13A_ENST00000519716.2_Missense_Mutation_p.D409E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	409					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGGCACCTTGTCGGGCGTGG	0.697000													5	16					1.23904e-05	3.37357e-05	0.000602214	1	0
SLC6A11	6538	broad.mit.edu	37	3	10858101	10858101	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:10858101G>C	ENST00000254488.2	+	1	217	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R	SLC6A11_ENST00000454147.1_Missense_Mutation_p.G51R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	51					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCACGAGCGCGGCCACTGGAA	0.721000													3	4					0	0	6.4e-05	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054795	72054795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:72054795C>T	ENST00000555818.1	+	2	554	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	69					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTCAACCCCCGGAGTCCCA	0.507000													48	20					0	0	0.00361006	0	0
INTS7	25896	broad.mit.edu	37	1	212180752	212180752	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:212180752G>A	ENST00000366994.3	-	6	700	c.596C>T	c.(595-597)cCc>cTc	p.P199L	INTS7_ENST00000366992.3_Missense_Mutation_p.P199L|INTS7_ENST00000366993.3_Missense_Mutation_p.P199L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.P150L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	199					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGTAGAATGGGTATCAATTT	0.403000													6	26					0	0	0.00116845	0	0
KIF1A	547	broad.mit.edu	37	2	241702653	241702653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241702653C>A	ENST00000498729.2	-	21	2125	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KIF1A_ENST00000320389.7_Missense_Mutation_p.D618Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	618					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AAGGCCCAGTCCACAGGCTCA	0.652000													9	18					5.4927e-09	1.62476e-08	0.000274275	1	0
IFT57	55081	broad.mit.edu	37	3	107938307	107938307	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:107938307C>A	ENST00000264538.3	-	2	572	c.325G>T	c.(325-327)Gat>Tat	p.D109Y		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	109					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAGGGTCATCATATTCTTGA	0.408000													19	11					6.94344e-10	2.12743e-09	0.00074312	1	0
UNC13C	440279	broad.mit.edu	37	15	54586184	54586184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:54586184G>T	ENST00000545554.1	+	10	3910	c.3910G>T	c.(3910-3912)Gag>Tag	p.E1304*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1304*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1302*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1304	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			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)		TTTCAAAAAGGAGTCAGATGA	0.358000													61	83					4.09106e-26	1.49424e-25	0.00361006	1	0
C10orf35	219738	broad.mit.edu	37	10	71392595	71392595	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:71392595G>T	ENST00000373279.4	+	4	305	c.146G>T	c.(145-147)cGc>cTc	p.R49L	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	49						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTGGCCCCCGCCAGCAGCAG	0.602000													17	19					1.99824e-07	5.68619e-07	0.000566183	1	0
LRP2	4036	broad.mit.edu	37	2	170058313	170058313	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170058313G>T	ENST00000263816.3	-	44	8562	c.8277C>A	c.(8275-8277)cgC>cgA	p.R2759R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2759	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTAATCACAGCGGTAAGAGT	0.498000													17	39					3.45872e-05	9.29046e-05	0.00400662	1	0
MYH1	4619	broad.mit.edu	37	17	10395801	10395801	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10395801C>T	ENST00000226207.5	-	40	5846	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1918						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCTGGGACTCAGCAATGTCA	0.488000													62	31					0	0	0.00361006	0	0
OR4K5	79317	broad.mit.edu	37	14	20389063	20389063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:20389063C>T	ENST00000315915.4	+	1	323	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCATAGCCCAAATTTTCTT	0.413000													76	44					0	0	0.00361006	0	0
IGHD	3495	broad.mit.edu	37	14	106307375	106307375	+	RNA	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:106307375G>A	ENST00000390556.2	-	0	662																											TTGCTGTGCCGCTCCAGCAGC	0.667000													3	2					0	0	6.4e-05	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832914	101832914	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:101832914G>T	ENST00000263468.8	+	6	1418	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	383							protein binding	p.C383S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GATAAAAAATGTGAAAAGACC	0.398000													15	29					0.000308642	0.000809088	0.00316338	1	0
SNHG14	104472715	broad.mit.edu	37	15	25322231	25322231	+	RNA	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:25322231G>T	ENST00000549804.2	+	0	1243				SNORD116-12_ENST00000384468.1_RNA																							TACATTCCTTGGAAAGCTGAA	0.438000													18	33					1.56452e-12	5.0115e-12	0.000958276	1	0
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:182783380C>G	ENST00000431877.2	+	12	3022	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*	SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S457*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S795*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S948*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S948*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313000													30	46					0	0	0.0024448	0	0
OR14J1	442191	broad.mit.edu	37	6	29274874	29274874	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29274874C>G	ENST00000377160.2	+	1	472	c.408C>G	c.(406-408)ccC>ccG	p.P136P		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTATGGATCCCCGTGCCTGTA	0.502000													58	136					0	0	0.00361006	0	0
SPEF2	79925	broad.mit.edu	37	5	35727888	35727888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35727888C>A	ENST00000440995.2	+	21	3011	c.3011C>A	c.(3010-3012)tCa>tAa	p.S1004*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1009*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1009					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			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)			AAGCCAGGATCAGAAGAATGG	0.428000													93	62					3.37413e-40	1.3124e-39	0.00361006	1	0
SLC4A10	57282	broad.mit.edu	37	2	162761344	162761344	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:162761344G>T	ENST00000375514.5	+	14	1906	c.1619G>T	c.(1618-1620)gGt>gTt	p.G540V	SLC4A10_ENST00000272716.5_Missense_Mutation_p.G529V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G529V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	559					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCTCTTTGGTGGACAGCCT	0.393000													47	62					2.55665e-31	9.66203e-31	0.00361006	1	0
SI	6476	broad.mit.edu	37	3	164741485	164741485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164741485G>T	ENST00000264382.3	-	26	3034	c.2972C>A	c.(2971-2973)tCa>tAa	p.S991*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	991	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCCATGGATGAATAGCGAGC	0.413000										HNSCC(35;0.089)			17	26					3.45872e-05	9.29046e-05	0.00400662	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144855862	144855862	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:144855862G>C	ENST00000369359.4	-	44	7137	c.7099C>G	c.(7099-7101)Cat>Gat	p.H2367D	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2125D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2316D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2231					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGAAGCTCATGAATACCTTTG	0.567000			T	PDGFRB	MPD								4	52					0	0	0.00198382	0	0
TEX13A	56157	broad.mit.edu	37	X	104464080	104464080	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:104464080C>T	ENST00000413579.1	-	5	907	c.796G>A	c.(796-798)Gat>Aat	p.D266N	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.E266E|TEX13A_ENST00000372575.1_Silent_p.E266E|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	266						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GACCGGAGATCTCCCTCCTTC	0.552000													27	42					0	0	0.000720815	0	0
USH2A	7399	broad.mit.edu	37	1	216040469	216040469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:216040469C>G	ENST00000366943.2	-	44	9111	c.8725G>C	c.(8725-8727)Ggt>Cgt	p.G2909R	USH2A_ENST00000307340.3_Missense_Mutation_p.G2909R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2909	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGTAAAACCCACACTGTTG	0.398000										HNSCC(13;0.011)			20	40					0	0	0.00152264	0	0
TMTC3	160418	broad.mit.edu	37	12	88588735	88588735	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:88588735A>T	ENST00000266712.6	+	14	2274	c.2054A>T	c.(2053-2055)aAt>aTt	p.N685I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	686						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAAAGGACAATGAAGCAGAG	0.398000													35	13					0	0	0.00327116	0	0
ERN2	10595	broad.mit.edu	37	16	23706706	23706706	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:23706706G>C	ENST00000256797.4	-	15	1927	c.1759C>G	c.(1759-1761)Cag>Gag	p.Q587E	ERN2_ENST00000457008.2_Missense_Mutation_p.Q487E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	539	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTCAAACTGTCCCCTGGAA	0.597000													9	6					0	0	0.000442599	0	0
AKAP13	11214	broad.mit.edu	37	15	86123011	86123011	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:86123011C>T	ENST00000394518.2	+	7	1807	c.1712C>T	c.(1711-1713)tCa>tTa	p.S571L	AKAP13_ENST00000361243.2_Missense_Mutation_p.S571L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	571					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACGGAAACTTCACGAAGTCGT	0.443000													50	70					0	0	0.00361006	0	0
EMX2	2018	broad.mit.edu	37	10	119305325	119305325	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:119305325C>G	ENST00000553456.3	+	2	1413	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	197						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACGGAAACTCAGGTGACTGC	0.632000													5	17					0	0	0.000602214	0	0
THOC2	57187	broad.mit.edu	37	X	122778702	122778702	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:122778702G>A	ENST00000245838.8	-	14	1518	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	THOC2_ENST00000355725.4_Missense_Mutation_p.S496F|THOC2_ENST00000491737.1_Missense_Mutation_p.S381F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	496					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCCATCAAAGAAAGAGATGG	0.333000													27	46					0	0	0.000720815	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99337959	99337959	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:99337959A>T	ENST00000408927.3	+	8	940	c.827A>T	c.(826-828)cAa>cTa	p.Q276L	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q185L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q228L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q227L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q277L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	276							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ATTGTTCAGCAAAAAGTGGAT	0.363000			T	NUP98	T-ALL								22	11					0	0	0.00229938	0	0
NOX1	27035	broad.mit.edu	37	X	100125791	100125791	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100125791C>T	ENST00000372966.3	-	2	263	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	NOX1_ENST00000372964.1_Missense_Mutation_p.G20R|NOX1_ENST00000217885.5_Missense_Mutation_p.G20R|NOX1_ENST00000372960.4_Missense_Mutation_p.G20R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	20					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATTCAGCCCTAACCAAACA	0.383000													35	61					0	0	0.00283554	0	0
LRP2	4036	broad.mit.edu	37	2	170055350	170055350	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170055350A>G	ENST00000263816.3	-	45	8809	c.8524T>C	c.(8524-8526)Tgt>Cgt	p.C2842R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2842	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTCCGTCACACAAATAAACG	0.368000													12	28					0	0	0.00136819	0	0
RNASEL	6041	broad.mit.edu	37	1	182551297	182551297	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:182551297G>T	ENST00000367559.3	-	4	1916	c.1663C>A	c.(1663-1665)Cca>Aca	p.P555T	RNASEL_ENST00000444138.1_Missense_Mutation_p.P555T|RNASEL_ENST00000539397.1_Missense_Mutation_p.P555T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	555	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						tcctcatctggagaaagttga	0.488000													47	110					4.66543e-40	1.8088e-39	0.00361006	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18658284	18658284	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:18658284G>T	ENST00000433979.1	+	23	3205	c.3089G>T	c.(3088-3090)gGa>gTa	p.G1030V	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1030	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCATCCTGGGAGTATGTGAC	0.383000													22	16					4.35082e-09	1.30634e-08	0.00152264	1	0
IQUB	154865	broad.mit.edu	37	7	123092911	123092911	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:123092911C>A	ENST00000466202.1	-	13	2838	c.2262G>T	c.(2260-2262)caG>caT	p.Q754H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q754H			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	754										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GCACTGGAACCTGAGAAAAAT	0.348000													12	5					1.49906e-05	4.07227e-05	0.00244969	1	0
SYTL4	94121	broad.mit.edu	37	X	99931173	99931173	+	Splice_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:99931173C>A	ENST00000455616.1	-	18	2214	c.1867_splice	c.e18-1	p.G623_splice	SYTL4_ENST00000454200.2_Splice_Site_p.G625_splice|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Splice_Site_p.G623_splice|SYTL4_ENST00000263033.5_Splice_Site_p.G623_splice|SYTL4_ENST00000372989.1_Splice_Site_p.G623_splice			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	623					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTACTGATCCCTGAGGAGAA	0.557000													41	63					2.00842e-17	6.79685e-17	0.0025221	1	0
MAP3K19	80122	broad.mit.edu	37	2	135739048	135739048	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:135739048A>G	ENST00000375845.3	-	9	3293	c.3263T>C	c.(3262-3264)gTa>gCa	p.V1088A	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.V975A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.V270A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.V220A|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CACCTGTTTTACAGCTATTAG	0.353000													33	49					0	0	0.0024448	0	0
CAPN10	11132	broad.mit.edu	37	2	241534551	241534551	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241534551C>A	ENST00000391984.2	+	7	1304	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.R370R|CAPN10_ENST00000391982.2_Silent_p.R370R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Silent_p.R370R	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	370	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATTCTGGCTGCGGGTCTCAGA	0.672000													40	48					4.01765e-15	1.33328e-14	0.00222228	1	0
BUB1B	701	broad.mit.edu	37	15	40494809	40494809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:40494809C>T	ENST00000287598.6	+	14	1843	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.R564*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	550			R -> Q (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGATCCCCCACGAGTTTTAGC	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				56	89					0	0	0.00361006	0	0
AMY2A	279	broad.mit.edu	37	1	104160135	104160135	+	Missense_Mutation	SNP	C	C	T	rs145483775	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:104160135C>T	ENST00000414303.2	+	1	137	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	25					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACAACAAGGACGGACATCTAT	0.443000													64	111					0	0	0.00361006	0	0
NLRP3	114548	broad.mit.edu	37	1	247599293	247599293	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:247599293A>G	ENST00000336119.3	+	6	3266	c.2520A>G	c.(2518-2520)acA>acG	p.T840T	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Silent_p.T840T|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Silent_p.T783T|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	840					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCACATCAGCATGTT	0.537000													22	48					0	0	0.00278032	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407754	38407754	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:38407754T>G	ENST00000351773.3	+	8	2505	c.1675T>G	c.(1675-1677)Tac>Gac	p.Y559D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.Y559D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CGAGGGAAATTACTCTGGGTG	0.353000													3	7					0	0	0.000602214	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473080	53473080	+	RNA	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:53473080T>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GAGATGAATTTTGAACAAAGG	0.373000													18	50					0	0	0.000958276	0	0
CIB3	117286	broad.mit.edu	37	19	16275696	16275696	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:16275696C>A	ENST00000269878.4	-	5	424	c.375G>T	c.(373-375)gcG>gcT	p.A125A	CIB3_ENST00000379859.3_Silent_p.A76A|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	125	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGGTCCCACGCACAAATGT	0.597000													28	87					1.04121e-07	2.99849e-07	0.000878237	1	0
ENPP1	5167	broad.mit.edu	37	6	132203596	132203596	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:132203596G>C	ENST00000360971.2	+	21	2232	c.2212G>C	c.(2212-2214)Ggg>Cgg	p.G738R		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	738	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGTGAGTTACGGGTTCCTCTC	0.383000													35	56					0	0	0.00148497	0	0
CUBN	8029	broad.mit.edu	37	10	16996484	16996484	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16996484C>A	ENST00000377833.4	-	32	4824	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1587	CUB 10.				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			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)	ATGGGGTTAGCCAGCTGCTCC	0.532000													29	43					4.59853e-10	1.41257e-09	0.000878237	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62917154	62917154	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:62917154C>G	ENST00000253401.6	-	4	1212	c.412G>C	c.(412-414)Gac>Cac	p.D138H	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D117H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D36H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D85H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D136H|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	138	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGAACATGTCCCTTCTCTTC	0.453000													21	41					0	0	0.00152264	0	0
MAP2	4133	broad.mit.edu	37	2	210545497	210545497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:210545497C>T	ENST00000360351.4	+	6	906	c.400C>T	c.(400-402)Cct>Tct	p.P134S	MAP2_ENST00000199940.6_Missense_Mutation_p.P134S|MAP2_ENST00000361559.4_Missense_Mutation_p.P134S|MAP2_ENST00000392194.1_Missense_Mutation_p.P134S|MAP2_ENST00000447185.1_Missense_Mutation_p.P134S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	134					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTAATCTGCCTCCTTCTCC	0.433000													88	147					0	0	0.00361006	0	0
FAM199X	139231	broad.mit.edu	37	X	103432977	103432977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:103432977G>A	ENST00000493442.1	+	5	1152	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	329										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGCGGATTCGGGATTCAAAA	0.398000													77	133					0	0	0.00361006	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255068	15255068	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:15255068G>A	ENST00000378116.4	-	8	2525	c.2519C>T	c.(2518-2520)gCg>gTg	p.A840V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	840						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGGGCATCCGCAGTCCGTCT	0.617000													39	83					0	0	0.00285205	0	0
TCN1	6947	broad.mit.edu	37	11	59622199	59622199	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:59622199A>G	ENST00000257264.3	-	7	1151	c.1047T>C	c.(1045-1047)aaT>aaC	p.N349N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	349					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACAGTGACATTGGTGAAAT	0.403000													36	59					0	0	0.00111076	0	0
IGKC	3514	broad.mit.edu	37	2	89161166	89161166	+	RNA	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:89161166G>T	ENST00000430694.1	-	0	721																											ATGTTCCCCAGGACATTTCTG	0.393000													22	29					1.2644e-06	3.5309e-06	0.00152264	1	0
COL11A1	1301	broad.mit.edu	37	1	103440441	103440441	+	Splice_Site	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103440441T>A	ENST00000358392.2	-	36	3108		c.e36-2		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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			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)		TTGAGGACCCTGGAAATAAAA	0.388000													23	28					0	0	0.00332997	0	0
HDAC4	9759	broad.mit.edu	37	2	240029767	240029767	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:240029767C>T	ENST00000345617.3	-	15	2867	c.2076G>A	c.(2074-2076)acG>acA	p.T692T	HDAC4_ENST00000543185.1_Silent_p.T276T|HDAC4_ENST00000541256.1_Silent_p.T666T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	692	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCCGGAGGCCCGTCTCCTGCA	0.677000													11	20					0	0	0.00136819	0	0
MIEF1	54471	broad.mit.edu	37	22	39910115	39910115	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:39910115C>T	ENST00000325301.2	+	6	1603	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	SMCR7L_ENST00000402881.1_Silent_p.A393A|SMCR7L_ENST00000404569.1_Silent_p.A393A	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		393						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					TCCACTTGGCCCAGGAGGAGG	0.592000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	11					0	0	0.00121646	0	0
DCDC1	341019	broad.mit.edu	37	11	30928266	30928266	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:30928266A>G	ENST00000597505.1	-	28	3924	c.3925T>C	c.(3925-3927)Tgt>Cgt	p.C1309R	DCDC1_ENST00000406071.2_Missense_Mutation_p.C44R|DCDC1_ENST00000339794.5_Missense_Mutation_p.C388R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGAGATAACAGTATCCCTAA	0.368000													9	15					0	0	0.000673444	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274669	42274669	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:42274669C>A	ENST00000389384.4	-	3	591	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A95S	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	95					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGCGGGAGGCGGCAATGCTG	0.592000													74	84					2.23852e-25	8.07757e-25	0.00361006	1	0
RP1	6101	broad.mit.edu	37	8	55542017	55542017	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55542017C>G	ENST00000220676.1	+	4	5723	c.5575C>G	c.(5575-5577)Cag>Gag	p.Q1859E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1859					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)			GGGTAGTCATCAGTCAGAAAG	0.418000													24	20					0	0	0.00278032	0	0
SNX17	9784	broad.mit.edu	37	2	27596131	27596131	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27596131C>A	ENST00000542478.1	+	0	301				SNX17_ENST00000233575.2_Missense_Mutation_p.L92I|SNX17_ENST00000537606.1_Missense_Mutation_p.L67I|SNX17_ENST00000543024.1_De_novo_Start_OutOfFrame			Q15036	SNX17_HUMAN	sorting nexin 17						cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCATTGCTTGGGAGCAG	0.527000													17	68					0.000958276	0.00249027	0.000958276	1	0
GLYAT	10249	broad.mit.edu	37	11	58491896	58491896	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58491896G>A	ENST00000344743.3	-	2	215	c.74C>T	c.(73-75)tCc>tTc	p.S25F	GLYAT_ENST00000278400.3_Missense_Mutation_p.S25F|GLYAT_ENST00000529732.1_Missense_Mutation_p.S25F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	25					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CACCTTTAAGGATGCTGGGAG	0.428000													50	82					0	0	0.00361006	0	0
MERTK	10461	broad.mit.edu	37	2	112754924	112754924	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:112754924C>T	ENST00000295408.4	+	10	1732	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	MERTK_ENST00000409780.1_Missense_Mutation_p.S316L|MERTK_ENST00000421804.2_Missense_Mutation_p.S492L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	492					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCCCTCTTCAACTCCGGCG	0.443000													87	165					0	0	0.00361006	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873734	48873734	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:48873734A>G	ENST00000394754.1	+	8	2757	c.2643A>G	c.(2641-2643)ccA>ccG	p.P881P	LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Silent_p.P143P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P834P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P881P|GTF2A1L_ENST00000403751.3_Silent_p.P177P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P881P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P881P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		834					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATTGAATCCATGGTCTCTTC	0.428000													39	32					0	0	0.00428921	0	0
OR52E4	390081	broad.mit.edu	37	11	5905604	5905604	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5905604T>A	ENST00000316987.2	+	1	104	c.82T>A	c.(82-84)Tgg>Agg	p.W28R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACATATCTGGATTTCTTT	0.443000													80	117					0	0	0.00361006	0	0
DCC	1630	broad.mit.edu	37	18	50866235	50866235	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:50866235C>A	ENST00000442544.2	+	15	2933	c.2317C>A	c.(2317-2319)Cgt>Agt	p.R773S	DCC_ENST00000412726.1_Missense_Mutation_p.R621S|DCC_ENST00000581580.1_Missense_Mutation_p.R428S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	773	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAGACAGTGCGTGTGGACAG	0.418000													68	49					3.13765e-25	1.1288e-24	0.00361006	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176493	140176493	+	Silent	SNP	C	C	T	rs140366950		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140176493C>T	ENST00000526136.1	+	1	1944	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTACTCGTGCTGGTGA	0.652000													48	16					0	0	0.00361006	0	0
GPR50	9248	broad.mit.edu	37	X	150348250	150348250	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150348250C>G	ENST00000218316.3	+	2	264	c.195C>G	c.(193-195)atC>atG	p.I65M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	65					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAACATCTTCGTGGTCA	0.488000													152	317					0	0	0.00361006	0	0
COL27A1	85301	broad.mit.edu	37	9	117071686	117071686	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:117071686C>T	ENST00000356083.3	+	60	5755	c.5364C>T	c.(5362-5364)ttC>ttT	p.F1788F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1788	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCGTACGCTTCCGGGCCTGGA	0.607000													46	66					0	0	0.00285205	0	0
ANO1	55107	broad.mit.edu	37	11	70033950	70033950	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:70033950T>A	ENST00000355303.5	+	26	3106	c.2801T>A	c.(2800-2802)tTc>tAc	p.F934Y	ANO1_ENST00000531349.1_Missense_Mutation_p.F643Y|ANO1_ENST00000538023.1_Missense_Mutation_p.F934Y|ANO1_ENST00000530676.1_Missense_Mutation_p.F788Y|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.F788Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	934					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTGGAGCTGTTCATGCGGGAG	0.577000													6	4					0	0	0.00116845	0	0
IL27RA	9466	broad.mit.edu	37	19	14163009	14163009	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:14163009C>A	ENST00000263379.2	+	14	1943	c.1818C>A	c.(1816-1818)acC>acA	p.T606T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	606					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCAGGCCACCGCCCCGCTTG	0.662000													16	14					3.52763e-06	9.6929e-06	0.000566183	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886016	88886016	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:88886016G>A	ENST00000319675.3	-	1	280	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	62										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCAGCTATGAATCTGGACC	0.512000													39	50					0	0	0.00148497	0	0
PASD1	139135	broad.mit.edu	37	X	150780162	150780162	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150780162G>C	ENST00000370357.4	+	4	389	c.144G>C	c.(142-144)ctG>ctC	p.L48L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	48	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTACACTGAGCACAGATG	0.318000													14	75					0	0	0.00244969	0	0
PTGER3	5733	broad.mit.edu	37	1	71478100	71478100	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:71478100T>C	ENST00000370924.4	-	2	1195	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	PTGER3_ENST00000356595.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q322R|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000306666.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000414819.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q322R|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q322R	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	322					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCATTCTTTCTGCTTCTCCGT	0.398000													26	33					0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179659867	179659867	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179659867G>T	ENST00000589042.1	-	7	1251	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T	TTN_ENST00000342992.6_Missense_Mutation_p.P343T|TTN_ENST00000360870.5_Missense_Mutation_p.P343T|TTN_ENST00000460472.2_Missense_Mutation_p.P343T|TTN_ENST00000342175.6_Missense_Mutation_p.P343T|TTN_ENST00000359218.5_Missense_Mutation_p.P343T|TTN_ENST00000591111.1_Missense_Mutation_p.P343T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	343							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)			TTCCAAGGGGGAGGCACTTCA	0.547000													30	46					1.38854e-25	5.05615e-25	0.001512	1	0
EYS	346007	broad.mit.edu	37	6	66204788	66204788	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:66204788C>A	ENST00000503581.1	-	4	1053	c.516G>T	c.(514-516)caG>caT	p.Q172H	EYS_ENST00000393380.2_Missense_Mutation_p.Q172H|EYS_ENST00000370621.3_Missense_Mutation_p.Q172H|EYS_ENST00000370618.3_Missense_Mutation_p.Q172H|EYS_ENST00000370616.2_Missense_Mutation_p.Q172H|EYS_ENST00000342421.5_Missense_Mutation_p.Q172H	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	172	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCTGGCAGAACTGCTGTTTCA	0.453000													13	30					2.68362e-12	8.55047e-12	0.00136819	1	0
DIRAS3	9077	broad.mit.edu	37	1	68512915	68512915	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:68512915G>A	ENST00000370981.1	-	4	702	c.66C>T	c.(64-66)gcC>gcT	p.A22A	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.A22A|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	22					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATAAGCAGGGCGGGCAGAA	0.587000													28	38					0	0	0.00106085	0	0
C18orf25	147339	broad.mit.edu	37	18	43795987	43795987	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:43795987G>T	ENST00000282059.6	+	2	515	c.141G>T	c.(139-141)gcG>gcT	p.A47A	C18orf25_ENST00000321319.6_Silent_p.A47A	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	47										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGTGTAGCGGATTCTACAG	0.458000													91	25					6.71967e-41	2.63077e-40	0.00361006	1	0
AMER1	139285	broad.mit.edu	37	X	63410016	63410016	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:63410016C>T	ENST00000330258.3	-	2	3423	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGCAGCAGCACATCTCGAGGC	0.612000													9	10					0	0	0.000274275	0	0
SPTA1	6708	broad.mit.edu	37	1	158655028	158655028	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158655028C>A	ENST00000368148.3	-	2	314	c.134G>T	c.(133-135)aGg>aTg	p.R45M	SPTA1_ENST00000368147.3_Missense_Mutation_p.R45M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	45			R -> S (in EL2; Clichy).|R -> T (in EL2; Anastasia).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					cttctgaccccTCTCAGCGAC	0.478000													42	53					3.43241e-23	1.22747e-22	0.00222228	1	0
ZNF107	51427	broad.mit.edu	37	7	64168848	64168848	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64168848T>G	ENST00000395391.1	+	4	3541	c.2166T>G	c.(2164-2166)tgT>tgG	p.C722W	ZNF107_ENST00000344930.3_Missense_Mutation_p.C722W|ZNF107_ENST00000423627.1_Missense_Mutation_p.C722W			Q9UII5	ZN107_HUMAN	zinc finger protein 107	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTACAAATGTGAAGAATGTG	0.348000													10	11					0	0	0.000442599	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996136	140996136	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140996136C>A	ENST00000285879.4	+	4	3232	c.2946C>A	c.(2944-2946)ctC>ctA	p.L982L	MAGEC1_ENST00000406005.2_Silent_p.L49L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	982	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CATTAGACCTCACCTCTGAGG	0.473000										HNSCC(15;0.026)			70	127					2.23852e-25	8.07757e-25	0.00361006	1	0
COL18A1	80781	broad.mit.edu	37	21	46912603	46912603	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:46912603C>A	ENST00000359759.4	+	23	3456	c.3435C>A	c.(3433-3435)ggC>ggA	p.G1145G	COL18A1_ENST00000355480.5_Silent_p.G910G|COL18A1_ENST00000400337.2_Silent_p.G730G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1145	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCCCAGGGCCGGCCGGGTT	0.701000													25	48					7.41945e-09	2.18929e-08	0.000878237	1	0
OR8B12	219858	broad.mit.edu	37	11	124413188	124413188	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:124413188G>C	ENST00000306842.2	-	1	387	c.363C>G	c.(361-363)cgC>cgG	p.R121R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGCCACGTAGCGGTCATACG	0.507000													23	49					0	0	0.00332997	0	0
USP10	9100	broad.mit.edu	37	16	84793532	84793532	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:84793532T>G	ENST00000219473.7	+	7	1543	c.1430T>G	c.(1429-1431)gTa>gGa	p.V477G	USP10_ENST00000570191.1_Missense_Mutation_p.V481G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	477					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AATATGCCAGTACCTCCAAAA	0.328000													27	18					0	0	0.00178596	0	0
MICB	4277	broad.mit.edu	37	6	31477636	31477636	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:31477636C>G	ENST00000252229.6	+	6	1181	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	MICB_ENST00000538442.1_Missense_Mutation_p.Q336E|MICB_ENST00000399150.3_Missense_Mutation_p.Q325E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	368					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCTGGGATTTCAGCCTCTGAT	0.577000													68	55					0	0	0.00361006	0	0
LYPD2	137797	broad.mit.edu	37	8	143832542	143832542	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:143832542C>A	ENST00000359228.3	-	2	187	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	35	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGACACAGTCCGACACTCCTG	0.652000													46	61					1.23713e-20	4.30837e-20	0.00361006	1	0
PEG3	5178	broad.mit.edu	37	19	57335999	57335999	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57335999C>T	ENST00000326441.9	-	4	388	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A9T|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	9					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A9S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTGGTGGCAGACAAGTGC	0.488000													18	58					0	0	0.000566183	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472740	64472740	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:64472740T>C	ENST00000355086.3	+	9	1691	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	SRGAP1_ENST00000543397.1_Silent_p.D349D|SRGAP1_ENST00000357825.3_Silent_p.D389D|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	389					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGATACAAGATATGGTCACCA	0.423000													39	12					0	0	0.00111076	0	0
IRS4	8471	broad.mit.edu	37	X	107977346	107977346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107977346G>C	ENST00000372129.2	-	1	2305	c.2229C>G	c.(2227-2229)taC>taG	p.Y743*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	743	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACATCATCATGTACCCTCTTG	0.458000													50	88					0	0	0.00361006	0	0
KHK	3795	broad.mit.edu	37	2	27322328	27322328	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27322328G>T	ENST00000260599.6	+	7	1207	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A232S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	232					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.A232S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGCCGACGCCCTGGGCCC	0.652000													17	70					1.56452e-12	5.0115e-12	0.000958276	1	0
OPRD1	4985	broad.mit.edu	37	1	29185538	29185538	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:29185538C>G	ENST00000234961.2	+	2	542	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	100					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGCCACCAGCACGCTGCCTT	0.507000													41	85					0	0	0.00170553	0	0
HPSE2	60495	broad.mit.edu	37	10	100481443	100481443	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100481443C>A	ENST00000370552.3	-	5	986	c.927G>T	c.(925-927)ccG>ccT	p.P309P	HPSE2_ENST00000370546.1_Silent_p.P309P|HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000404542.1_Silent_p.P197P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	309					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTCTTCCTCGGCCGCCCAA	0.438000													14	31					0.000151284	0.000400086	0.00185496	1	0
PCSK7	9159	broad.mit.edu	37	11	117093951	117093951	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:117093951A>C	ENST00000320934.3	-	9	1758	c.1128T>G	c.(1126-1128)agT>agG	p.S376R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S17R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	376	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTCCCCACCACTGAAGGTGA	0.577000			T	IGH@	MLCLS								42	57					0	0	0.0025221	0	0
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:23931741G>C	ENST00000331837.4	-	1	709	c.624C>G	c.(622-624)agC>agG	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637000									Prader-Willi syndrome				19	27					0	0	0.00121646	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884716	228884716	+	Missense_Mutation	SNP	C	C	G	rs145402025		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:228884716C>G	ENST00000392056.3	-	7	900	c.854G>C	c.(853-855)cGa>cCa	p.R285P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443000													73	137					0	0	0.00361006	0	0
OR9G4	283189	broad.mit.edu	37	11	56511027	56511027	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56511027C>A	ENST00000302957.3	-	1	260	c.261G>T	c.(259-261)tgG>tgT	p.W87C		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGAGGTATACCAGAAATCCA	0.433000													34	63					6.90743e-12	2.1834e-11	0.00375469	1	0
KLHL34	257240	broad.mit.edu	37	X	21674749	21674749	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21674749G>A	ENST00000379499.2	-	1	1699	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	386										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGCGAGTCGTCGGCCAGGG	0.682000													10	6					0	0	0.000978159	0	0
HMGB4	127540	broad.mit.edu	37	1	34329945	34329945	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:34329945C>A	ENST00000522796.1	+	4	2058	c.153C>A	c.(151-153)tcC>tcA	p.S51S	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.S51S			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	51						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATGGAGATCCATCTCAAAGC	0.403000													48	84					1.61863e-15	5.41652e-15	0.00361006	1	0
ANO7	50636	broad.mit.edu	37	2	242135326	242135326	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:242135326C>T	ENST00000402530.3	+	4	637	c.534C>T	c.(532-534)gcC>gcT	p.A178A	ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN	anoctamin 7	0						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATGACCTTGCCGCATGAGGCC	0.627000													15	24					0	0	0.00244969	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249169	90249169	+	RNA	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:90249169C>A	ENST00000468879.1	+	0	306																											GACAGAGTCACCATCACTTGC	0.473000													85	125					9.11151e-29	3.38994e-28	0.00361006	1	0
TAS2R13	50838	broad.mit.edu	37	12	11061579	11061579	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:11061579A>G	ENST00000390677.2	-	1	582	c.319T>C	c.(319-321)Tat>Cat	p.Y107H	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTGAGCAAATAAAAGATGCTG	0.368000													77	33					0	0	0.00361006	0	0
STK32B	55351	broad.mit.edu	37	4	5458560	5458560	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:5458560G>A	ENST00000282908.5	+	8	1115	c.693G>A	c.(691-693)acG>acA	p.T231T	STK32B_ENST00000510398.1_Silent_p.T184T|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.T154T	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	231	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTCGGTCACGCCCATCGATG	0.532000													10	6					0	0	0.000442599	0	0
ZIM3	114026	broad.mit.edu	37	19	57647112	57647112	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57647112T>C	ENST00000269834.1	-	5	978	c.593A>G	c.(592-594)cAt>cGt	p.H198R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCACAGCTATGACATTCAAA	0.438000													68	69					0	0	0.00361006	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224898	20224898	+	RNA	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:20224898C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							GCTGCCCGGTCGGGCGACGTC	0.642000													91	79					0	0	0.00361006	0	0
LRP1B	53353	broad.mit.edu	37	2	141816540	141816540	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:141816540G>T	ENST00000389484.3	-	9	2291	c.1320C>A	c.(1318-1320)aaC>aaA	p.N440K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	440					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTAAATCGGTTTATCCTTA	0.323000										TSP Lung(27;0.18)			23	58					1.55795e-14	5.09951e-14	0.00188189	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660612	77660612	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:77660612A>G	ENST00000296043.6	+	5	2239	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	429					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATTCATAGAGGAGCAGCTG	0.577000													21	47					0	0	0.00188189	0	0
PROSC	11212	broad.mit.edu	37	8	37623867	37623867	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:37623867T>C	ENST00000328195.3	+	4	380	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	105							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TGTCAACAAATTGATGGGTAA	0.363000													53	65					0	0	0.00361006	0	0
WDR44	54521	broad.mit.edu	37	X	117527102	117527102	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:117527102G>A	ENST00000254029.3	+	4	1089	c.694G>A	c.(694-696)Gtt>Att	p.V232I	WDR44_ENST00000371822.5_Missense_Mutation_p.V207I|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.V232I	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	232	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGAAGCCTGTTCCAGCACG	0.517000													88	130					0	0	0.00361006	0	0
RLIM	51132	broad.mit.edu	37	X	73811496	73811496	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811496G>T	ENST00000332687.6	-	4	1872	c.1654C>A	c.(1654-1656)Cag>Aag	p.Q552K	RLIM_ENST00000349225.2_Missense_Mutation_p.Q552K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	552					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTCAATCTGTTCTTTGGTG	0.393000													19	32					7.07596e-05	0.000188378	0.00074312	1	0
DNMT1	1786	broad.mit.edu	37	19	10265725	10265725	+	Silent	SNP	G	G	A	rs75443147	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:10265725G>A	ENST00000340748.4	-	19	1687	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	DNMT1_ENST00000359526.4_Silent_p.A500A|DNMT1_ENST00000540357.1_Silent_p.A484A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	484	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAATGTATTCGGCAAATGCTG	0.532000													37	38					0	0	0.00170553	0	0
TRIM22	10346	broad.mit.edu	37	11	5730671	5730671	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5730671G>A	ENST00000379965.3	+	8	1567	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	430	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CTGATCCCAAGGTTTTGACTC	0.423000													44	80					0	0	0.00321405	0	0
PASD1	139135	broad.mit.edu	37	X	150791486	150791486	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150791486C>A	ENST00000370357.4	+	7	741	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	166						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGAGGATCGGCTTTATCT	0.502000													63	104					2.53126e-37	9.75065e-37	0.00361006	1	0
SRCAP	10847	broad.mit.edu	37	16	30749357	30749357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30749357G>T	ENST00000262518.4	+	34	8381	c.7996G>T	c.(7996-7998)Gag>Tag	p.E2666*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2604*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2508*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2666	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCACTTCAGGAGCCACTGGA	0.592000													34	70					5.91797e-21	2.07302e-20	0.0024448	1	0
TTN	7273	broad.mit.edu	37	2	179614488	179614488	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179614488G>T	ENST00000360870.5	-	46	12861	c.12639C>A	c.(12637-12639)agC>agA	p.S4213R	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3557							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)			ATAATTGGTGGCTACAATTAA	0.348000													14	29					7.93312e-07	2.22053e-06	0.00244969	1	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	93					0	0	0.000602214	0	0
GPR98	84059	broad.mit.edu	37	5	89933676	89933676	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:89933676A>T	ENST00000405460.2	+	11	2247	c.2151A>T	c.(2149-2151)ttA>ttT	p.L717F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	717	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTTATCTGGGCAAA	0.418000													23	14					0	0	0.00332997	0	0
ZNF883	169834	broad.mit.edu	37	9	115760032	115760032	+	RNA	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:115760032C>T	ENST00000427548.1	-	0	1781							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCCTGATGTTCAATTAGGTGT	0.403000													29	45					0	0	0.00127121	0	0
HAPLN4	404037	broad.mit.edu	37	19	19368850	19368850	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:19368850G>A	ENST00000291481.7	-	5	1048	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	329	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			ATGGGGTAGCGCGCACTGCCA	0.731000													4	4					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152282723	152282723	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152282723C>T	ENST00000368799.1	-	3	4674	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GATTGTTCCTCATTTCTTGTT	0.587000									Ichthyosis				168	237					0	0	0.00361006	0	0
SF1	7536	broad.mit.edu	37	11	64536570	64536570	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:64536570G>T	ENST00000377390.3	-	8	1148	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	SF1_ENST00000377394.3_Missense_Mutation_p.R271S|SF1_ENST00000433274.2_Missense_Mutation_p.R245S|SF1_ENST00000227503.9_Missense_Mutation_p.R271S|SF1_ENST00000334944.5_Missense_Mutation_p.R271S|SF1_ENST00000422298.2_Missense_Mutation_p.R156S|SF1_ENST00000377387.1_Missense_Mutation_p.R396S|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	271					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTAATGCTGCGGGTCTCTGAG	0.488000													5	212					0.00198382	0.00513308	0.00198382	1	0
SDPR	8436	broad.mit.edu	37	2	192701281	192701281	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:192701281C>G	ENST00000304141.4	-	2	975	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	216						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCACTGTCTTCCAGGGCCTCC	0.502000													47	79					0	0	0.00361006	0	0
DUOX2	50506	broad.mit.edu	37	15	45402630	45402630	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:45402630T>A	ENST00000389039.6	-	9	1421	c.1036A>T	c.(1036-1038)Atg>Ttg	p.M346L	DUOX2_ENST00000603300.1_Missense_Mutation_p.M346L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	346	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTCACCTCATGTAGACACCA	0.577000													21	21					0	0	0.00188189	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	45					0	0	0.00024832	0	0
AKAP14	158798	broad.mit.edu	37	X	119037469	119037469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119037469C>G	ENST00000371431.3	+	4	455	c.181C>G	c.(181-183)Cct>Gct	p.P61A	AKAP14_ENST00000371423.2_Missense_Mutation_p.P61A|AKAP14_ENST00000334356.2_Missense_Mutation_p.P61A|AKAP14_ENST00000394594.2_Missense_Mutation_p.P61A|AKAP14_ENST00000371425.4_Missense_Mutation_p.P61A|AKAP14_ENST00000371422.1_Missense_Mutation_p.P61A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	61						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GGAGCGAAACCCTTTGAAAAA	0.393000													11	32					0	0	0.000978159	0	0
CYTIP	9595	broad.mit.edu	37	2	158272457	158272457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:158272457C>A	ENST00000264192.3	-	8	933	c.812G>T	c.(811-813)aGg>aTg	p.R271M	CYTIP_ENST00000540637.1_Missense_Mutation_p.R165M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	271	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAAGGCACCCCTGCTGGAGTC	0.532000													23	48					2.98393e-07	8.45095e-07	0.00278032	1	0
TRA2B	6434	broad.mit.edu	37	3	185636179	185636179	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:185636179C>A	ENST00000453386.2	-	8	1105	c.830G>T	c.(829-831)cGt>cTt	p.R277L	TRA2B_ENST00000382191.4_Missense_Mutation_p.R177L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	277	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						AGATCTGGAACGTGATCTGTA	0.368000													21	50					1.96292e-10	6.07644e-10	0.00152264	1	0
PRKDC	5591	broad.mit.edu	37	8	48697683	48697683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:48697683C>A	ENST00000314191.2	-	78	11151	c.11095G>T	c.(11095-11097)Gag>Tag	p.E3699*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3699*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3700					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCGGGAATCTCCAGCTCATTT	0.453000								Non-homologous end-joining					23	32					3.01185e-09	9.1116e-09	0.00395357	1	0
PDE4D	5144	broad.mit.edu	37	5	58287799	58287799	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:58287799T>A	ENST00000340635.6	-	8	1223	c.1048A>T	c.(1048-1050)Act>Tct	p.T350S	PDE4D_ENST00000360047.5_Missense_Mutation_p.T214S|PDE4D_ENST00000405755.2_Missense_Mutation_p.T228S|PDE4D_ENST00000317118.8_Missense_Mutation_p.T59S|PDE4D_ENST00000503258.1_Missense_Mutation_p.T220S|PDE4D_ENST00000507116.1_Missense_Mutation_p.T286S|PDE4D_ENST00000358923.6_Missense_Mutation_p.T48S|PDE4D_ENST00000502484.2_Missense_Mutation_p.T289S|PDE4D_ENST00000546160.1_Missense_Mutation_p.T289S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	350					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCCTTCTGAGTTGGAGAAGGA	0.318000													7	1					0	0	0.00198382	0	0
SORCS3	22986	broad.mit.edu	37	10	107016579	107016579	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:107016579C>T	ENST00000369701.3	+	25	3567	c.3340C>T	c.(3340-3342)Cca>Tca	p.P1114S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1114						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTCCAAGCTCCATTGGTGGA	0.458000													16	10					0	0	0.00316338	0	0
ETS1	2113	broad.mit.edu	37	11	128360449	128360449	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128360449T>A	ENST00000392668.3	-	4	305	c.237A>T	c.(235-237)ccA>ccT	p.P79P	ETS1_ENST00000531611.1_Silent_p.P35P|ETS1_ENST00000319397.5_Silent_p.P35P|ETS1_ENST00000345075.4_Silent_p.P35P|ETS1_ENST00000526145.1_Silent_p.P35P|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	35	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGTTAATAGTGGGACATCTG	0.358000													15	17					0	0	0.00316338	0	0
OR5L1	219437	broad.mit.edu	37	11	55579555	55579555	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55579555T>A	ENST00000333973.2	+	1	702	c.613T>A	c.(613-615)Ttg>Atg	p.L205M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGGCCACTTTGAATGAGAG	0.463000													48	101					0	0	0.00321405	0	0
ENPP7	339221	broad.mit.edu	37	17	77708950	77708950	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:77708950A>G	ENST00000328313.5	+	3	729	c.508A>G	c.(508-510)Acg>Gcg	p.T170A		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	170					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAAAAATGAGACGGAGTGGAG	0.597000													21	31					0	0	0.00395357	0	0
POM121L12	285877	broad.mit.edu	37	7	53103797	53103797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:53103797G>T	ENST00000408890.4	+	1	449	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	145										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCGCCCCCTGAGCGTCAGGA	0.711000													11	24					1.5842e-08	4.65165e-08	0.00185496	1	0
TRPM6	140803	broad.mit.edu	37	9	77354822	77354822	+	Missense_Mutation	SNP	C	C	A	rs144713167		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:77354822C>A	ENST00000451710.3	-	33	5553	c.5316G>T	c.(5314-5316)caG>caT	p.Q1772H	TRPM6_ENST00000376871.3_Missense_Mutation_p.Q605H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1772H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1768H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1763H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q723H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1768	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACAATACCTGGATCATTG	0.498000													33	53					2.08457e-15	6.93698e-15	0.00209593	1	0
NBAS	51594	broad.mit.edu	37	2	15679480	15679480	+	Splice_Site	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:15679480A>T	ENST00000281513.5	-	7	405	c.379_splice	c.e7-1	p.V127_splice	NBAS_ENST00000441750.1_Splice_Site_p.V127_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	127										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTTTCGGAACTAGAACAAA	0.398000													5	39					0	0	0.000602214	0	0
CTNND2	1501	broad.mit.edu	37	5	11082811	11082811	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:11082811T>C	ENST00000304623.8	-	16	2974	c.2785A>G	c.(2785-2787)Atc>Gtc	p.I929V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.I871V|CTNND2_ENST00000503622.1_Missense_Mutation_p.I592V|CTNND2_ENST00000458100.2_Missense_Mutation_p.I496V|CTNND2_ENST00000511377.1_Missense_Mutation_p.I838V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACATACCGATGAGCTCCTTA	0.507000													137	104					0	0	0.00361006	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995682	140995682	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140995682T>A	ENST00000285879.4	+	4	2778	c.2492T>A	c.(2491-2493)gTg>gAg	p.V831E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	831							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTCCTGTGAGCTCCTTC	0.567000										HNSCC(15;0.026)			131	190					0	0	0.00361006	0	0
CUBN	8029	broad.mit.edu	37	10	16994277	16994277	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16994277G>C	ENST00000377833.4	-	33	5032	c.4967C>G	c.(4966-4968)cCa>cGa	p.P1656R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1656	CUB 11.				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			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)	TTACTTACATGGAGGTTGCGC	0.438000													21	36					0	0	0.00152264	0	0
ZFP91	80829	broad.mit.edu	37	11	58384258	58384258	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58384258G>A	ENST00000316059.6	+	10	1343	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R391Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	391					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAGTGCACCGGATGATTCAC	0.428000													13	47					0	0	0.00316338	0	0
DNAH8	1769	broad.mit.edu	37	6	38851748	38851748	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38851748C>A	ENST00000359357.3	+	54	7836	c.7582C>A	c.(7582-7584)Cct>Act	p.P2528T	DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492T|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTAATATGCCTGTGATTAA	0.333000													12	20					0.00010058	0.000267172	0.00136819	1	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	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													8	56					0	0	0.000274275	0	0
SMCHD1	23347	broad.mit.edu	37	18	2770009	2770009	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:2770009G>C	ENST00000320876.6	+	39	5207	c.4869G>C	c.(4867-4869)atG>atC	p.M1623I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1623I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1623					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCAACAAATGGCAGCACTTA	0.279000													14	35					0	0	0.00400662	0	0
KIRREL3	84623	broad.mit.edu	37	11	126343309	126343309	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:126343309C>T	ENST00000525144.2	-	5	735	c.486G>A	c.(484-486)gcG>gcA	p.A162A	KIRREL3_ENST00000525704.2_Silent_p.A162A|KIRREL3_ENST00000529097.2_Silent_p.A162A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	162	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.A162A(2)|p.A121A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GAGGGTCCCCCGCACGCAGGC	0.647000													6	7					0	0	0.00198382	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998027	27998027	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:27998027G>A	ENST00000441525.1	-	1	1539	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	475										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCCTCCATGAACTGGATGA	0.512000													15	10					0	0	0.00400662	0	0
FKRP	79147	broad.mit.edu	37	19	47259642	47259642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:47259642G>A	ENST00000318584.5	+	4	1232	c.935G>A	c.(934-936)cGc>cAc	p.R312H	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R312H	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	312			R -> C (in MDDGC5).			extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TACGAGGAGCGCTGGACGCCC	0.726000													6	4					0	0	0.00198382	0	0
KLK9	284366	broad.mit.edu	37	19	51507039	51507039	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51507039C>T	ENST00000376832.4	-	4	557	c.524G>A	c.(523-525)tGt>tAt	p.C175Y	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.C175Y|KLK9_ENST00000250366.6_Missense_Mutation_p.C175Y	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCCAGTGACAGAGTTTGTT	0.567000													21	35					0	0	0.00188189	0	0
MKI67	4288	broad.mit.edu	37	10	129913444	129913444	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:129913444C>T	ENST00000368654.3	-	7	1603	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	410					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCAGAGTCAGCTGCATCT	0.438000													32	58					0	0	0.00283554	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857768	9857768	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:9857768G>A	ENST00000396573.2	-	14	3942	c.3633C>T	c.(3631-3633)tcC>tcT	p.S1211S	GRIN2A_ENST00000396575.2_Silent_p.S1211S|GRIN2A_ENST00000535259.1_Silent_p.S1054S|GRIN2A_ENST00000562109.1_Silent_p.S1211S|GRIN2A_ENST00000330684.3_Silent_p.S1211S|GRIN2A_ENST00000404927.2_Silent_p.S1211S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1211					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGTGCGTGGAGTTCTGCC	0.552000													194	158					0	0	0.00361006	0	0
PKHD1	5314	broad.mit.edu	37	6	51484071	51484071	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:51484071C>T	ENST00000371117.3	-	67	12308	c.12033G>A	c.(12031-12033)ctG>ctA	p.L4011L	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4011					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)					TTTGGCCTGCCAGCTGGTATC	0.567000													30	43					0	0	0.00127121	0	0
SON	6651	broad.mit.edu	37	21	34932435	34932435	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:34932435T>C	ENST00000300278.4	+	7	6939	c.6910T>C	c.(6910-6912)Tag>Cag	p.*2304Q	SON_ENST00000290239.6_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTTTGGTGGTAGCAAATTTA	0.468000													3	175					0	0	0.000602214	0	0
KLK8	11202	broad.mit.edu	37	19	51503433	51503433	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51503433G>A	ENST00000600767.1	-	5	801	c.312C>T	c.(310-312)atC>atT	p.I104I	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Silent_p.I104I|KLK8_ENST00000391806.2_Silent_p.I149I			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	104	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGGTGTGGGATGGACTGAA	0.522000													54	62					0	0	0.00361006	0	0
STX11	8676	broad.mit.edu	37	6	144507960	144507960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:144507960G>T	ENST00000367568.4	+	2	379	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	66					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCGGCTGGGAAAGCAGAA	0.622000									Familial Hemophagocytic Lymphohistiocytosis				12	18					4.84862e-15	1.6046e-14	0.000978159	1	0
PRKAR1A	5573	broad.mit.edu	37	17	66511665	66511665	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66511665G>T	ENST00000589228.1	+	2	253	c.125G>T	c.(124-126)cGa>cTa	p.R42L	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R42L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	42	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCACTGCTCGACCTGAGAGA	0.473000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				13	17					4.7546e-09	1.41692e-08	0.00400662	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629195	1629195	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629195A>G	ENST00000399685.1	-	1	498	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GATGACCCACAGCCTGAGGAG	0.632000													96	150					0	0	0.00361006	0	0
DHX16	8449	broad.mit.edu	37	6	30627269	30627269	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30627269T>A	ENST00000376442.3	-	12	2182	c.1987A>T	c.(1987-1989)Aca>Tca	p.T663S	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.T182S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	663	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CCAGGTGGTGTGGGCTGGAAG	0.582000													9	7					0	0	0.000442599	0	0
ILDR2	387597	broad.mit.edu	37	1	166927159	166927159	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:166927159G>T	ENST00000271417.3	-	2	281	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	ILDR2_ENST00000529387.1_Silent_p.R76R|ILDR2_ENST00000469934.2_Silent_p.R76R|ILDR2_ENST00000526687.1_Silent_p.R76R|ILDR2_ENST00000525740.1_Silent_p.R76R|ILDR2_ENST00000529071.1_Silent_p.R76R|ILDR2_ENST00000528703.1_Silent_p.R76R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	76	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GATTGGGCCCGGGTAGAGGAC	0.532000													39	71					7.05121e-23	2.50663e-22	0.0025221	1	0
GRM1	2911	broad.mit.edu	37	6	146720539	146720539	+	Silent	SNP	G	G	C	rs114187147	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146720539G>C	ENST00000392299.2	+	8	2834	c.2364G>C	c.(2362-2364)gcG>gcC	p.A788A	GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000507907.1_Silent_p.A788A|GRM1_ENST00000282753.1_Silent_p.A788A|GRM1_ENST00000361719.2_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	788					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AATATATCGCGTTCACCATGT	0.488000													48	73					0	0	0.00361006	0	0
CENPI	2491	broad.mit.edu	37	X	100417906	100417906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100417906C>T	ENST00000372927.1	+	21	2498	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	CENPI_ENST00000423383.1_Missense_Mutation_p.H741Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H727Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	741					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TAGTGTTCATCATTCTTCCAT	0.378000													39	49					0	0	0.000953801	0	0
OR8K3	219473	broad.mit.edu	37	11	56086244	56086244	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56086244C>A	ENST00000312711.1	+	1	462	c.462C>A	c.(460-462)ttC>ttA	p.F154L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATTGCACATTCATTTCTCTTC	0.418000													45	64					7.05121e-23	2.50663e-22	0.0025221	1	0
KLHL1	57626	broad.mit.edu	37	13	70281880	70281880	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:70281880C>A	ENST00000377844.4	-	10	2823	c.2064G>T	c.(2062-2064)atG>atT	p.M688I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M495I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	688					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATCTCTGGGCATACTCAAAG	0.408000													29	6					3.57733e-08	1.0402e-07	0.00178596	1	0
ZNF273	10793	broad.mit.edu	37	7	64388382	64388382	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64388382A>G	ENST00000476120.1	+	4	747	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K161E	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCAGCATAAGAAAACTGCTAC	0.313000													36	32					0	0	0.00148497	0	0
NCKAP1	10787	broad.mit.edu	37	2	183818048	183818048	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:183818048C>A	ENST00000360982.2	-	22	2941	c.2183G>T	c.(2182-2184)gGg>gTg	p.G728V	NCKAP1_ENST00000361354.3_Missense_Mutation_p.G722V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	722					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATAGTCATCCCAACAATTGA	0.363000													15	27					4.7546e-09	1.41692e-08	0.00400662	1	0
ACADL	33	broad.mit.edu	37	2	211057583	211057583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:211057583C>A	ENST00000233710.3	-	10	1371	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	382					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TGTACACAGTCGTAAGCTACA	0.373000													8	23					0.00307968	0.00791729	0.00307968	1	0
SHROOM4	57477	broad.mit.edu	37	X	50377848	50377848	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:50377848G>C	ENST00000376020.2	-	4	1250	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R293G|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R409G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	409					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTATGGCGATGCCCTGTG	0.572000													10	5					0	0	0.000442599	0	0
RYR2	6262	broad.mit.edu	37	1	237942010	237942010	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:237942010G>T	ENST00000366574.2	+	88	12137	c.11820G>T	c.(11818-11820)ctG>ctT	p.L3940L	RYR2_ENST00000542537.1_Silent_p.L3924L|RYR2_ENST00000360064.6_Silent_p.L3946L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3940					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCAGGCTGTGGGATGCTG	0.443000													27	43					3.57733e-08	1.0402e-07	0.00178596	1	0
RBM4	5936	broad.mit.edu	37	11	66407340	66407340	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:66407340G>A	ENST00000409406.1	+	1	935	c.158G>A	c.(157-159)cGc>cAc	p.R53H	RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H					RNA binding motif protein 4									p.R53H(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GATGCCATACGCAACCTGCAC	0.468000													58	116					0	0	0.00361006	0	0
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:3939117G>T	ENST00000228820.4	-	2	230	c.86C>A	c.(85-87)aCg>aAg	p.T29K	PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T22K|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	22	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413000													54	93					3.07002e-29	1.14576e-28	0.00361006	1	0
INSC	387755	broad.mit.edu	37	11	15260557	15260557	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:15260557G>C	ENST00000379554.3	+	11	1517	c.1471G>C	c.(1471-1473)Gca>Cca	p.A491P	INSC_ENST00000379556.3_Missense_Mutation_p.A444P|INSC_ENST00000530161.1_Missense_Mutation_p.A444P|INSC_ENST00000528567.1_Missense_Mutation_p.A444P|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A402P|INSC_ENST00000525218.1_Missense_Mutation_p.A402P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	491					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCAGAAAGCTGCAGTGACCCT	0.607000													14	27					0	0	0.00185496	0	0
ERO1L	30001	broad.mit.edu	37	14	53130549	53130549	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:53130549T>C	ENST00000395686.3	-	8	869	c.646A>G	c.(646-648)Aga>Gga	p.R216G		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	216					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TTTAAAGGTCTTTTAATTGTC	0.318000													2	14					0	0	6.4e-05	0	0
CDH2	1000	broad.mit.edu	37	18	25591835	25591835	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:25591835C>A	ENST00000269141.3	-	4	944	c.521G>T	c.(520-522)gGa>gTa	p.G174V	CDH2_ENST00000399380.3_Missense_Mutation_p.G143V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	174	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGAAAAGGTCCCCTGGAGTT	0.408000													45	176					2.24722e-20	7.80339e-20	0.00361006	1	0
RUNX1T1	862	broad.mit.edu	37	8	93003886	93003886	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:93003886C>T	ENST00000523629.1	-	7	1426	c.972G>A	c.(970-972)agG>agA	p.R324R	RUNX1T1_ENST00000518844.1_Silent_p.R297R|RUNX1T1_ENST00000422361.2_Silent_p.R287R|RUNX1T1_ENST00000436581.2_Silent_p.R335R|RUNX1T1_ENST00000396218.1_Silent_p.R297R|RUNX1T1_ENST00000360348.2_Silent_p.R287R|RUNX1T1_ENST00000265814.3_Silent_p.R324R|RUNX1T1_ENST00000520724.1_Silent_p.R287R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	324					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTTTCTGTCCCTGAGGTCCC	0.512000													51	107					0	0	0.00361006	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45506091	45506091	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:45506091G>A	ENST00000359600.5	-	7	1934	c.1729C>T	c.(1729-1731)Ctg>Ttg	p.L577L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	577							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAGATTTCCAGTTGCCGCTGC	0.502000													46	46					0	0	0.00361006	0	0
DDX18	8886	broad.mit.edu	37	2	118582663	118582663	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:118582663G>T	ENST00000263239.2	+	9	1482	c.1354G>T	c.(1354-1356)Gtc>Ttc	p.V452F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	452	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.V452I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATTTGCCCGTCTTGGCCAT	0.388000													48	70					2.13883e-14	6.98179e-14	0.00361006	1	0
ATP7B	540	broad.mit.edu	37	13	52542619	52542619	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:52542619C>T	ENST00000242839.4	-	4	1824	c.1668G>A	c.(1666-1668)atG>atA	p.M556I	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	556					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.M556N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGTAGTCCTCCATGACTGCTG	0.522000									Wilson disease				29	6					0	0	0.001512	0	0
ZNF764	92595	broad.mit.edu	37	16	30566697	30566697	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30566697C>T	ENST00000395091.2	-	3	1357	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.G349S			Q96H86	ZN764_HUMAN	zinc finger protein 764	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AAGCGGCGGCCGCACTGCGGG	0.736000													7	13					0	0	0.00198382	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333131	33333131	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:33333131C>A	ENST00000023064.4	-	11	1358	c.1167G>T	c.(1165-1167)acG>acT	p.T389T	SLC7A9_ENST00000587772.1_Silent_p.T389T|SLC7A9_ENST00000590341.1_Silent_p.T389T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	389					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.T389T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCCTAGAATCGTCAGGCCAT	0.428000													15	42					4.7546e-09	1.41692e-08	0.00400662	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													4	45					0	0	0.00024832	0	0
CNKSR2	22866	broad.mit.edu	37	X	21670529	21670529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21670529G>A	ENST00000425654.2	+	21	3385	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	CNKSR2_ENST00000379510.3_Missense_Mutation_p.D999N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	999					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTTCTTGGATATCTGTCA	0.393000													30	15					0	0	0.00209593	0	0
FSTL5	56884	broad.mit.edu	37	4	162841698	162841698	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:162841698A>T	ENST00000306100.5	-	4	703	c.267T>A	c.(265-267)tgT>tgA	p.C89*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.C88*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.C88*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.C88*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	89	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAGGTCCATACAGGCACATT	0.458000													13	5					0	0	0.00185496	0	0
ESPL1	9700	broad.mit.edu	37	12	53683319	53683319	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:53683319G>T	ENST00000257934.4	+	22	5145	c.5054G>T	c.(5053-5055)gGc>gTc	p.G1685V	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1685V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1685					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTGGAATCTGGCCACTTCCCC	0.612000													51	14					5.57489e-27	2.04869e-26	0.00361006	1	0
ASRGL1	80150	broad.mit.edu	37	11	62124564	62124564	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:62124564C>T	ENST00000415229.2	+	4	654	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.R147C|ASRGL1_ENST00000535727.1_Missense_Mutation_p.R19C	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	147					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAACAAAAAGCGCCTGGAAAA	0.433000													17	28					0	0	0.000958276	0	0
FCGBP	8857	broad.mit.edu	37	19	40421289	40421289	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:40421289G>A	ENST00000221347.6	-	5	2639	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	878	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGAAGCGCCGGCCGTCGAAG	0.667000													4	9					0	0	0.00024832	0	0
MRPS17P9	359760	broad.mit.edu	37	X	118513760	118513760	+	RNA	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:118513760G>C	ENST00000413240.1	-	0	491																											GCTAAAGTGAGAGTGATCAGG	0.413000													28	57					0	0	0.000720815	0	0
MAST1	22983	broad.mit.edu	37	19	12958435	12958435	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:12958435C>T	ENST00000251472.4	+	6	537	c.498C>T	c.(496-498)cgC>cgT	p.R166R	MAST1_ENST00000591495.1_Silent_p.R162R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	166					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCCGGGCGCTCCCCCTCCT	0.627000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	43					0	0	0.001512	0	0
DYSF	8291	broad.mit.edu	37	2	71909661	71909661	+	Splice_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:71909661C>A	ENST00000258104.3	+	54	6335	c.6056_splice	c.e54-1	p.R2020_splice	DYSF_ENST00000409744.1_Splice_Site_p.R2028_splice|DYSF_ENST00000429174.2_Splice_Site_p.R2041_splice|DYSF_ENST00000409582.3_Splice_Site_p.R2058_splice|DYSF_ENST00000413539.2_Splice_Site_p.R2051_splice|DYSF_ENST00000410020.3_Splice_Site_p.R2059_splice|DYSF_ENST00000410041.1_Splice_Site_p.R2038_splice|DYSF_ENST00000409762.1_Splice_Site_p.R2037_splice|DYSF_ENST00000409651.1_Splice_Site_p.R2052_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Splice_Site_p.R2042_splice|DYSF_ENST00000394120.2_Splice_Site_p.R2021_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2020						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCTTCCAGGCGCCCCGACAC	0.567000													34	99					1.71298e-08	5.01748e-08	0.00375469	1	0
ITPR2	3709	broad.mit.edu	37	12	26580957	26580957	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:26580957C>A	ENST00000381340.3	-	49	7250	c.6834G>T	c.(6832-6834)ctG>ctT	p.L2278L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2278					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		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)					AGAAGAAAAACAGCATAGATG	0.383000													18	66					4.35082e-09	1.30634e-08	0.00152264	1	0
EFEMP2	30008	broad.mit.edu	37	11	65637634	65637634	+	Missense_Mutation	SNP	C	C	T	rs148940436		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:65637634C>T	ENST00000307998.6	-	6	795	c.565G>A	c.(565-567)Gag>Aag	p.E189K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.E189K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	189	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		AAGCCCGGCTCGCACTGGCAG	0.667000													22	31					0	0	0.00395357	0	0
SCN3A	6328	broad.mit.edu	37	2	165947639	165947639	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:165947639G>C	ENST00000360093.3	-	28	5515	c.5024C>G	c.(5023-5025)tCc>tGc	p.S1675C	SCN3A_ENST00000409101.3_Missense_Mutation_p.S1626C|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1675C|SCN3A_ENST00000540861.1_Missense_Mutation_p.S158C|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1675						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCAAAGTTGGACATCCCAAA	0.443000													67	99					0	0	0.00361006	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106406028	106406028	+	RNA	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:106406028G>A	ENST00000390593.2	-	0	80																											GCCCAGCACGGGCAGGAAGAT	0.567000													14	10					0	0	0.00316338	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220538	130220538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130220538C>T	ENST00000276211.5	+	11	1730	c.1385C>T	c.(1384-1386)gCa>gTa	p.A462V	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A326V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A450V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTCAGGAGTGCACGCATAAAG	0.453000													37	62					0	0	0.00327116	0	0
FBXO4	26272	broad.mit.edu	37	5	41939628	41939628	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:41939628A>G	ENST00000281623.3	+	6	1040	c.984A>G	c.(982-984)ttA>ttG	p.L328L	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	328					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGTTGGTTTTATCTTGTATTT	0.393000													57	145					0	0	0.00361006	0	0
TAF9B	51616	broad.mit.edu	37	X	77392460	77392460	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:77392460G>T	ENST00000341864.5	-	5	527	c.433C>A	c.(433-435)Cga>Aga	p.R145R		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	145					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ACACTTAATCGTGGAACTAGT	0.408000													31	48					1.21669e-08	3.58132e-08	0.00327116	1	0
PIWIL3	440822	broad.mit.edu	37	22	25119105	25119105	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:25119105C>A	ENST00000332271.5	-	19	2792	c.2376G>T	c.(2374-2376)agG>agT	p.R792S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674S|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCATTCATTCCTAGTCAACT	0.338000													26	8					5.45727e-16	1.83132e-15	0.001512	1	0
CTSL3P	392360	broad.mit.edu	37	9	90388441	90388441	+	RNA	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:90388441A>G	ENST00000354530.2	+	0	307					NR_027917.1																						GACCTGGTGGACTGCTCTAGG	0.468000													29	40					0	0	0.000878237	0	0
CSMD3	114788	broad.mit.edu	37	8	113259248	113259248	+	Splice_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:113259248C>A	ENST00000297405.5	-	64	10467		c.e64+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATACTTACGTATGCATTC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	35					1.15088e-07	3.30636e-07	0.00400662	1	0
PRKD1	5587	broad.mit.edu	37	14	30046533	30046533	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:30046533G>T	ENST00000331968.5	-	18	2879	c.2650C>A	c.(2650-2652)Ctg>Atg	p.L884M	PRKD1_ENST00000415220.2_Missense_Mutation_p.L892M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATTGATCAGGTGTGTGGGG	0.537000													48	19					7.05377e-20	2.42828e-19	0.00361006	1	0
PDILT	204474	broad.mit.edu	37	16	20386177	20386177	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:20386177G>C	ENST00000302451.4	-	5	896	c.648C>G	c.(646-648)caC>caG	p.H216Q		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	216					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAGGGTGACGTGGAAACGCC	0.438000													56	41					0	0	0.00361006	0	0
HPSE2	60495	broad.mit.edu	37	10	100401623	100401623	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100401623T>A	ENST00000370552.3	-	7	1138	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	HPSE2_ENST00000370546.1_Missense_Mutation_p.Q360L|HPSE2_ENST00000370549.1_Missense_Mutation_p.Q302L|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q248L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	360					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTTCCTAATCTGGTCAGAGAG	0.428000													69	107					0	0	0.00361006	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217955	36217955	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:36217955G>T	ENST00000258840.6	-	10	1477	c.1087C>A	c.(1087-1089)Ccc>Acc	p.P363T	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P363T			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	363					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTGTTCGGGTTCTGTAGTT	0.363000													13	13					2.23348e-06	6.17948e-06	0.00400662	1	0
KLHL4	56062	broad.mit.edu	37	X	86773132	86773132	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:86773132G>T	ENST00000373119.4	+	1	381	c.236G>T	c.(235-237)gGa>gTa	p.G79V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G79V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	79						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCAGTGCCAGGACCGGCCCCT	0.498000													26	41					1.5548e-18	5.29162e-18	0.000878237	1	0
VTA1	51534	broad.mit.edu	37	6	142487415	142487415	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:142487415G>A	ENST00000367630.4	+	2	221	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	VTA1_ENST00000367621.1_Intron|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	55	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAAACTCCTGAATGTCGCAA	0.299000													21	32					0	0	0.00229938	0	0
PTPRD	5789	broad.mit.edu	37	9	8485777	8485777	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:8485777G>T	ENST00000381196.4	-	25	3583	c.3040C>A	c.(3040-3042)Ctg>Atg	p.L1014M	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1014M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1001M|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1014M|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L992M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1014					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCACAGGCAGTGTCCTGAAC	0.448000										TSP Lung(15;0.13)			13	13					2.68362e-12	8.55047e-12	0.00136819	1	0
SPANXN2	494119	broad.mit.edu	37	X	142803752	142803752	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:142803752G>T	ENST00000370498.1	-	1	764	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	4										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGAAGTCGGCTGTTCCAT	0.448000													76	154					1.20873e-29	4.52519e-29	0.00361006	1	0
XIRP2	129446	broad.mit.edu	37	2	168106105	168106105	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:168106105C>A	ENST00000409195.1	+	9	8292	c.8203C>A	c.(8203-8205)Caa>Aaa	p.Q2735K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2735K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2513K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2560					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCATAAACAGCAATCTGAGAT	0.343000													21	39					2.4624e-09	7.46823e-09	0.00121646	1	0
IFNA6	3443	broad.mit.edu	37	9	21350709	21350709	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:21350709T>C	ENST00000380210.1	-	1	668	c.178A>G	c.(178-180)Aga>Gga	p.R60G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGAAATCTGAAGTCATGT	0.522000													64	30					0	0	0.00361006	0	0
FRG2B	441581	broad.mit.edu	37	10	135440184	135440184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135440184C>A	ENST00000443774.1	-	1	112	c.63G>T	c.(61-63)caG>caT	p.Q21H	FRG2B_ENST00000425520.1_Missense_Mutation_p.Q21H			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	21						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGAAAGGGGGCTGGTCAGTGG	0.507000													15	170					5.03518e-11	1.57087e-10	0.000958276	1	0
TMC2	117532	broad.mit.edu	37	20	2577848	2577848	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:2577848C>T	ENST00000358864.1	+	10	1143	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	376						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGACAACTTCACATTCAGCT	0.507000													18	33					0	0	0.000566183	0	0
OR4M2	390538	broad.mit.edu	37	15	22368621	22368621	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:22368621G>T	ENST00000332663.2	+	1	144	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCTCACTGGCCTATCCCA	0.333000													44	135					1.41504e-22	4.98592e-22	0.00285205	1	0
DNAH8	1769	broad.mit.edu	37	6	38919096	38919096	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38919096C>A	ENST00000359357.3	+	80	11854	c.11600C>A	c.(11599-11601)tCt>tAt	p.S3867Y	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3831Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4084Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTTAGGTCTTGGTGCCCA	0.338000													39	61					9.62906e-15	3.16044e-14	0.00128727	1	0
EVA1A	84141	broad.mit.edu	37	2	75745218	75745218	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:75745218G>T	ENST00000233712.1	-	3	486	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	EVA1A_ENST00000410113.1_Missense_Mutation_p.L17I|EVA1A_ENST00000393913.3_Missense_Mutation_p.L17I|EVA1A_ENST00000410071.1_Missense_Mutation_p.L17I|EVA1A_ENST00000490746.1_5'UTR	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		ATGTTGCTGAGCAAAGCCATC	0.602000													40	33					5.48756e-27	2.0228e-26	0.00285205	1	0
DOCK2	1794	broad.mit.edu	37	5	169461490	169461490	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:169461490G>A	ENST00000256935.8	+	35	3635	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	DOCK2_ENST00000540750.1_Silent_p.L246L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L677L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1185	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGAAGCTGCTGGATTACC	0.587000													23	13					0	0	0.00332997	0	0
MYH8	4626	broad.mit.edu	37	17	10302868	10302868	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10302868G>C	ENST00000403437.2	-	28	3948	c.3854C>G	c.(3853-3855)aCa>aGa	p.T1285R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1285					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCCGCTTCTGTCTGCAGGCG	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				45	16					0	0	0.00361006	0	0
PTPRK	5796	broad.mit.edu	37	6	128385930	128385930	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:128385930T>A	ENST00000368227.3	-	13	2533	c.2167A>T	c.(2167-2169)Acc>Tcc	p.T723S	PTPRK_ENST00000368210.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368207.3_Missense_Mutation_p.T723S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.T723S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.T723S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T723S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T723S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	723					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACGCACTGGGTTTTAGTTTCC	0.343000													17	37					0	0	0.00400662	0	0
NTF3	4908	broad.mit.edu	37	12	5604005	5604005	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:5604005G>T	ENST00000423158.3	+	2	876	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	209					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAGGGGTATTGATGATAAACA	0.488000													99	46					2.31008e-40	9.01459e-40	0.00361006	1	0
SORCS1	114815	broad.mit.edu	37	10	108923992	108923992	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:108923992G>T	ENST00000263054.6	-	1	300	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.S98Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	98						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCGCCATGGATGCCCCAGT	0.726000													10	18					1.76689e-08	5.16278e-08	0.000442599	1	0
FCRL3	115352	broad.mit.edu	37	1	157665128	157665128	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:157665128T>C	ENST00000368184.3	-	8	1693	c.1402A>G	c.(1402-1404)Agg>Ggg	p.R468G	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	468	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGTGACCCTGAGACTCACT	0.488000													4	194					0	0	0.00024832	0	0
ALAS2	212	broad.mit.edu	37	X	55042056	55042056	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522000													28	15					0	0	0.000878237	0	0
CEP85L	387119	broad.mit.edu	37	6	118802981	118802981	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:118802981T>A	ENST00000368491.3	-	8	2327	c.1706A>T	c.(1705-1707)cAg>cTg	p.Q569L	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q572L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	569						centrosome											TTTCTTTTTCTGGCATATTAA	0.279000													6	15					0	0	0.00116845	0	0
PRRT2	112476	broad.mit.edu	37	16	29825272	29825272	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:29825272C>G	ENST00000300797.6	+	2	1071	c.897C>G	c.(895-897)ccC>ccG	p.P299P	PRRT2_ENST00000358758.7_Intron|PRRT2_ENST00000567659.1_Intron|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	0					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCATGGGACCCTAGCCCAGGC	0.597000													20	72					0	0	0.00152264	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224192	13224192	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:13224192T>A	ENST00000197268.8	+	10	1506	c.1386T>A	c.(1384-1386)ggT>ggA	p.G462G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	462						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTGTGGATGGTGACTCTGGCT	0.478000													90	247					0	0	0.00361006	0	0
APC	324	broad.mit.edu	37	5	112175215	112175215	+	Silent	SNP	A	A	G	rs121913224		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:112175215A>G	ENST00000457016.1	+	16	4304	c.3924A>G	c.(3922-3924)aaA>aaG	p.K1308K	APC_ENST00000508376.2_Silent_p.K1308K|APC_ENST00000257430.4_Silent_p.K1308K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1308	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1309fs*6(50)|p.E1309fs*4(37)|p.I1307fs*6(12)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308fs*4(1)|p.I1307fs*13(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGAAATAAAAGAAAAGATTG	0.428000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	6					0	0	0.001512	0	0
PITPNM3	83394	broad.mit.edu	37	17	6377866	6377866	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:6377866G>T	ENST00000262483.8	-	10	1231	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	ACKR6_ENST00000421306.3_Missense_Mutation_p.L346I	NM_031220.3	NP_112497.2																					ACCTCAGGGAGCTGCGGCCCC	0.667000													9	3					0.000274275	0.000722157	0.000274275	1	0
RB1	5925	broad.mit.edu	37	13	48881512	48881512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:48881512G>A	ENST00000267163.4	+	2	372	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	78					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.W78*(3)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTTAACTTGGGAGAAAGTTT	0.323000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			50	15					0	0	0.00361006	0	0
C8A	731	broad.mit.edu	37	1	57349196	57349196	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:57349196G>T	ENST00000361249.3	+	6	793	c.697G>T	c.(697-699)Gca>Tca	p.A233S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	233	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTATGATAATGCAAATGACCT	0.423000													14	45					0.000308642	0.000809088	0.00316338	1	0
DPP10	57628	broad.mit.edu	37	2	116534814	116534814	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:116534814C>A	ENST00000410059.1	+	14	1732	c.1252C>A	c.(1252-1254)Ctg>Atg	p.L418M	DPP10_ENST00000409163.1_Missense_Mutation_p.L368M|DPP10_ENST00000393147.2_Missense_Mutation_p.L422M|DPP10_ENST00000310323.8_Missense_Mutation_p.L411M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	418					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CGTGCGGCATCTGACATCAGG	0.378000													9	20					3.86212e-05	0.000103508	0.000673444	1	0
UNC5D	137970	broad.mit.edu	37	8	35542267	35542267	+	Splice_Site	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:35542267G>T	ENST00000453357.2	+	6	960	c.904_splice	c.e6+1	p.V302_splice	UNC5D_ENST00000404895.2_Splice_Site_p.V307_splice|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site_p.V307_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	307	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			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)		TCTTTGTCCTGGTGAGATATA	0.463000													24	44					6.36457e-07	1.78566e-06	0.00395357	1	0
TECTA	7007	broad.mit.edu	37	11	121032985	121032985	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:121032985G>T	ENST00000392793.1	+	16	5449	c.5178G>T	c.(5176-5178)aaG>aaT	p.K1726N	TECTA_ENST00000264037.2_Missense_Mutation_p.K1726N			O75443	TECTA_HUMAN	tectorin alpha	1726					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAGCCACAAGAAGTTCCAGC	0.592000													21	37					1.00905e-13	3.25832e-13	0.00121646	1	0
TPTE	7179	broad.mit.edu	37	21	10969098	10969098	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10969098G>T	ENST00000361285.4	-	7	479	c.150C>A	c.(148-150)gcC>gcA	p.A50A	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	50					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGACACCCGGGCTGCTCCTT	0.463000													16	101					3.41278e-10	1.05374e-09	0.000566183	1	0
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:102047697C>A	ENST00000251127.6	-	3	209	c.128G>T	c.(127-129)cGc>cTc	p.R43L	NALCN_ENST00000376200.5_Missense_Mutation_p.R43L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	43						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433000													39	11					2.35958e-20	8.16989e-20	0.00222228	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273853	160273853	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:160273853C>T	ENST00000264431.4	+	21	3818	c.3399C>T	c.(3397-3399)ccC>ccT	p.P1133P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1133	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTTGGCTCCCAGTGGTACTG	0.378000													22	12					0	0	0.00278032	0	0
TTC13	79573	broad.mit.edu	37	1	231047215	231047215	+	Splice_Site	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:231047215C>T	ENST00000366661.4	-	20	2317		c.e20+1		TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13								binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATTACTTACCTGGATCCTC	0.313000													8	14					0	0	0.000274275	0	0
KCNA3	3738	broad.mit.edu	37	1	111216927	111216927	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:111216927T>C	ENST00000369769.2	-	1	728	c.505A>G	c.(505-507)Atc>Gtc	p.I169V		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	169						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCGGCGGATGCGGCCCCCG	0.632000													48	68					0	0	0.00361006	0	0
SPTBN5	51332	broad.mit.edu	37	15	42159161	42159161	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:42159161G>A	ENST00000320955.6	-	36	6703	c.6476C>T	c.(6475-6477)aCc>aTc	p.T2159I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2159					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTGACCTGGGTTGCGGCCTG	0.647000													6	4					0	0	0.00198382	0	0
ENPP4	22875	broad.mit.edu	37	6	46108938	46108938	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:46108938C>T	ENST00000321037.4	+	3	1206	c.976C>T	c.(976-978)Cta>Tta	p.L326L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	326						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACAATTGTGCTAAATGAATC	0.338000													19	19					0	0	0.000958276	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7884653	7884653	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:7884653G>A	ENST00000539054.1	-	9	898	c.899C>T	c.(898-900)gCg>gTg	p.A300V	BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.A264V|TXNDC5_ENST00000379757.4_Missense_Mutation_p.A372V|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A264V																							CTTGACCCCCGCCAGACCAGG	0.488000													41	104					0	0	0.00148497	0	0
FLI1	2313	broad.mit.edu	37	11	128628193	128628193	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128628193C>T	ENST00000344954.6	+	2	491	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	FLI1_ENST00000534087.1_Missense_Mutation_p.R35W|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.R68W|FLI1_ENST00000527767.2_3'UTR			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	68					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R68W(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAACGTCAAGCGGGAGTATGA	0.587000			T	EWSR1	Ewing sarcoma								8	17					0	0	0.000442599	0	0
UBR5	51366	broad.mit.edu	37	8	103297762	103297762	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:103297762G>C	ENST00000520539.1	-	39	6069	c.5463C>G	c.(5461-5463)taC>taG	p.Y1821*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.Y1815*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.Y1821*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1821					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGCATCTTGGTAAGTCAATT	0.373000													11	69					0	0	0.000978159	0	0
SYN2	6854	broad.mit.edu	37	3	12225013	12225013	+	RNA	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:12225013A>G	ENST00000432424.2	+	0	1682							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GGGGAGGGGAAAACAGACCCT	0.448000													7	2					0	0	0.00198382	0	0
GABRA2	2555	broad.mit.edu	37	4	46252554	46252554	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:46252554G>C	ENST00000510861.1	-	10	1300	c.1127C>G	c.(1126-1128)cCg>cGg	p.P376R	GABRA2_ENST00000540012.1_Missense_Mutation_p.P381R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376R|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376R|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAAGATTCGGGGCATAATT	0.418000													60	35					0	0	0.00361006	0	0
SLC36A4	120103	broad.mit.edu	37	11	92895879	92895879	+	Missense_Mutation	SNP	C	C	A	rs76610702	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:92895879C>A	ENST00000326402.4	-	9	1160	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	SLC36A4_ENST00000529184.1_Missense_Mutation_p.D209Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	344					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TACCATACATCTTGGGGAAGA	0.303000													21	23					2.4624e-09	7.46823e-09	0.00121646	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463671	25463671	+	RNA	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:25463671C>A	ENST00000424208.1	+	0	2954				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GAAGCTCCAGCCCTTCCTGGT	0.602000													29	59					2.48779e-11	7.78167e-11	0.000878237	1	0
LRGUK	136332	broad.mit.edu	37	7	133884049	133884049	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:133884049G>C	ENST00000285928.2	+	14	1692	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	541	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAAATATGAGGGATATTTGC	0.363000													39	25					0	0	0.00148497	0	0
MUC15	143662	broad.mit.edu	37	11	26587419	26587419	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:26587419G>C	ENST00000436318.2	-	2	201	c.68C>G	c.(67-69)cCa>cGa	p.P23R	ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P23R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P23R|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000281268.8_Missense_Mutation_p.P23R			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGGCTTCTTTGGTATTGGTTT	0.289000													19	29					0	0	0.00152264	0	0
RXFP3	51289	broad.mit.edu	37	5	33937868	33937868	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:33937868C>A	ENST00000330120.3	+	1	1378	c.1023C>A	c.(1021-1023)ccC>ccA	p.P341P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	341						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTTGGCTGCCCAACCAGGCGC	0.602000													36	70					6.90743e-12	2.1834e-11	0.00375469	1	0
AQP8	343	broad.mit.edu	37	16	25238439	25238439	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:25238439C>T	ENST00000219660.5	+	5	778	c.653C>T	c.(652-654)gCg>gTg	p.A218V	AQP8_ENST00000566125.1_Missense_Mutation_p.A212V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	218					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TTTGGACCTGCGGTGGTGGCC	0.607000													32	84					0	0	0.00178596	0	0
SPEF2	79925	broad.mit.edu	37	5	35654677	35654677	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35654677C>A	ENST00000440995.2	+	7	827	c.827C>A	c.(826-828)aCa>aAa	p.T276K	SPEF2_ENST00000282469.6_Missense_Mutation_p.T276K|SPEF2_ENST00000356031.3_Missense_Mutation_p.T276K|SPEF2_ENST00000509059.1_Missense_Mutation_p.T276K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	276					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			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)			GCAGGCCAGACAACCACCGAT	0.358000													21	42					5.35356e-11	1.66586e-10	0.00278032	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978296	45978296	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45978296C>T	ENST00000391620.1	-	1	347	c.303G>A	c.(301-303)gtG>gtA	p.V101V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	101	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						agcagacaggcacgcagcagg	0.647000													71	126					0	0	0.00361006	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	100					0	0	0.00198382	0	0
LAMA2	3908	broad.mit.edu	37	6	129419489	129419489	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:129419489T>C	ENST00000421865.2	+	4	617	c.568T>C	c.(568-570)Tca>Cca	p.S190P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	190	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGGCCACCGTCATATGCCAA	0.443000													31	40					0	0	0.001512	0	0
PFKL	5211	broad.mit.edu	37	21	45732884	45732884	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45732884C>T	ENST00000403390.1	+	6	592	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PFKL_ENST00000349048.4_Missense_Mutation_p.R151W|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	151					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GACTACAGCCCGGACCTACTC	0.647000													18	37					0	0	0.000566183	0	0
RLIM	51132	broad.mit.edu	37	X	73811508	73811508	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811508G>C	ENST00000332687.6	-	4	1860	c.1642C>G	c.(1642-1644)Ctc>Gtc	p.L548V	RLIM_ENST00000349225.2_Missense_Mutation_p.L548V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	548					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTTGGTGAGTCCTCTAGGT	0.413000													17	30					0	0	0.00074312	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594696	61594696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:61594696C>T	ENST00000370349.3	+	7	886	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	SLC17A9_ENST00000370351.4_Missense_Mutation_p.R234W|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	234			N -> S (in dbSNP:rs2427463).		exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCCCTGGAGACGGCTCTTCCG	0.647000													16	19					0	0	0.000958276	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415942	5415942	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:5415942A>T	ENST00000341928.2	-	13	2282	c.1942T>A	c.(1942-1944)Ttc>Atc	p.F648I	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F648I|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	648	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCACTGAGAAGGAGGCAGAC	0.577000													29	45					0	0	0.000878237	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788253	140788253	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140788253A>T	ENST00000520790.1	+	1	484	c.484A>T	c.(484-486)Ata>Tta	p.I162L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCCTGATATAAACATAAA	0.363000													12	5					0	0	0.000978159	0	0
COL11A1	1301	broad.mit.edu	37	1	103444277	103444277	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103444277G>T	ENST00000358392.2	-	35	3094	c.2777C>A	c.(2776-2778)cCt>cAt	p.P926H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P798H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P914H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P875H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	914	Triple-helical region.		Missing (in STL2; overlapping phenotype with Marshall syndrome).		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			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)		TTCACCTGGAGGGCCAGGAGG	0.378000													55	99					8.4772e-36	3.25503e-35	0.00361006	1	0
OR8K5	219453	broad.mit.edu	37	11	55927296	55927296	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927296C>A	ENST00000313447.1	-	1	497	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACAGAAGGTCAATGTAAAAA	0.383000													21	55					2.27731e-05	6.15849e-05	0.00188189	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963237	73963237	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73963237G>T	ENST00000373468.1	-	3	1806	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	KIAA2022_ENST00000055682.5_Silent_p.G385G			Q5QGS0	K2022_HUMAN	KIAA2022	385					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCTCTTTGCCTTTCTTCT	0.458000													52	153					1.4374e-25	5.2182e-25	0.00361006	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99654694	99654694	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:99654694G>A	ENST00000292450.4	+	2	229	c.65G>A	c.(64-66)gGg>gAg	p.G22E	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G22E|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G22E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	22					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGCAGGTGGGGCCTCTGATG	0.537000													79	44					0	0	0.00361006	0	0
C3orf67	200844	broad.mit.edu	37	3	58817503	58817503	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:58817503T>C	ENST00000295966.7	-	13	1834	c.1331A>G	c.(1330-1332)cAt>cGt	p.H444R	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.H570R|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	452										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTCAGGCCATGGGAGGTCCC	0.542000													27	13					0	0	0.000720815	0	0
OSTN	344901	broad.mit.edu	37	3	190936696	190936696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:190936696G>A	ENST00000445281.1	+	3	330	c.263G>A	c.(262-264)gGg>gAg	p.G88E	OSTN_ENST00000339051.1_Missense_Mutation_p.G88E|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	88					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TCTGGTTTTGGGTCTCCCCTT	0.398000													23	26					0	0	0.001512	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037215	129037215	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:129037215A>T	ENST00000274487.4	+	20	3216	c.3071A>T	c.(3070-3072)aAg>aTg	p.K1024M	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1024	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTGGGCCCAAGCCCGCCTCT	0.577000													18	17					0	0	0.00152264	0	0
ASB1	51665	broad.mit.edu	37	2	239344391	239344391	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:239344391C>T	ENST00000264607.4	+	3	478	c.231C>T	c.(229-231)ctC>ctT	p.L77L	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	77					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGGCTGGCTCCCCTGCACAC	0.632000													15	23					0	0	0.00316338	0	0
PFAS	5198	broad.mit.edu	37	17	8168408	8168408	+	Missense_Mutation	SNP	A	A	T	rs146379979		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8168408A>T	ENST00000314666.6	+	18	2378	c.2245A>T	c.(2245-2247)Acc>Tcc	p.T749S	PFAS_ENST00000545834.1_Missense_Mutation_p.T325S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	749					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGAAGCCCTCACCAACCTGGT	0.622000													16	5					0	0	0.000566183	0	0
TRIM68	55128	broad.mit.edu	37	11	4621792	4621792	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:4621792T>C	ENST00000300747.5	-	7	1461	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	391	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGAATCCATAGTGGGGGGA	0.572000													18	35					0	0	0.00121646	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912157	101912157	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:101912157C>G	ENST00000537097.1	+	6	4129	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q1106E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1106	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGCCTGATCAGCCTAGTCC	0.488000													62	120					0	0	0.00361006	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853591	12853591	+	Missense_Mutation	SNP	C	C	A	rs149382773		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12853591C>A	ENST00000332296.7	+	2	318	c.215C>A	c.(214-216)aCg>aAg	p.T72K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	72										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAAGACGCTTCATTTG	0.547000													59	97					1.88935e-48	7.42113e-48	0.00361006	1	0
UNC45B	146862	broad.mit.edu	37	17	33486400	33486400	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:33486400A>G	ENST00000268876.5	+	8	912	c.815A>G	c.(814-816)aAg>aGg	p.K272R	UNC45B_ENST00000433649.1_Missense_Mutation_p.K272R|UNC45B_ENST00000394570.2_Missense_Mutation_p.K272R|UNC45B_ENST00000378449.1_Missense_Mutation_p.K272R|UNC45B_ENST00000591048.1_Missense_Mutation_p.K272R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	272					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAGACACCAAGAAGGACCTG	0.507000													130	233					0	0	0.00361006	0	0
ZNF618	114991	broad.mit.edu	37	9	116764924	116764924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:116764924G>T	ENST00000288466.7	+	5	535	c.436G>T	c.(436-438)Gag>Tag	p.E146*	ZNF618_ENST00000374126.5_Nonsense_Mutation_p.E178*	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCTCAGGGGAGGGAGCCTC	0.612000													27	81					0.000147802	0.00039174	0.00106085	1	0
CDH9	1007	broad.mit.edu	37	5	26903843	26903843	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:26903843G>A	ENST00000231021.4	-	6	1074	c.902C>T	c.(901-903)gCa>gTa	p.A301V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	301	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCCATTTCTGCATTTTCCCC	0.413000													84	176					0	0	0.00361006	0	0
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:159677661G>T	ENST00000297267.9	+	18	5372	c.5172G>T	c.(5170-5172)acG>acT	p.T1724T	FNDC1_ENST00000340366.6_Silent_p.T1661T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1724	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423000													53	72					1.38658e-30	5.22364e-30	0.00361006	1	0
FAM47C	442444	broad.mit.edu	37	X	37027150	37027150	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:37027150C>A	ENST00000358047.3	+	1	719	c.667C>A	c.(667-669)Cgc>Agc	p.R223S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	223										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCACAGCC	0.657000													35	23					1.36239e-07	3.90465e-07	0.00327116	1	0
LCN1	3933	broad.mit.edu	37	9	138415086	138415086	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:138415086G>C	ENST00000263598.2	+	3	290	c.230G>C	c.(229-231)gGc>gCc	p.G77A	LCN1_ENST00000371781.3_Missense_Mutation_p.G77A	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	77					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGATAAGTGGCCGGTGCCAG	0.637000													11	33					0	0	0.000978159	0	0
XIRP1	165904	broad.mit.edu	37	3	39229740	39229740	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:39229740C>A	ENST00000340369.3	-	2	1425	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V399V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	399							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTAGGTGACCCACTTGGACCT	0.592000													60	53					1.27862e-28	4.74237e-28	0.00361006	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110489571	110489571	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:110489571C>T	ENST00000378402.5	+	53	9139	c.9035C>T	c.(9034-9036)cCt>cTt	p.P3012L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3012					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3014H(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)			GATTGCTTTCCTGTACATCCG	0.408000										HNSCC(38;0.096)			23	33					0	0	0.00332997	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219990	44219990	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:44219990A>T	ENST00000371554.1	+	10	1931	c.1717A>T	c.(1717-1719)Aag>Tag	p.K573*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.K573*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.K573*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	573					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			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)			AATCTTAGATAAGAAGGTTGA	0.443000													19	31					0	0	0.000958276	0	0
PCGF5	84333	broad.mit.edu	37	10	93011162	93011162	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93011162C>G	ENST00000336126.5	+	6	671	c.439C>G	c.(439-441)Cga>Gga	p.R147G	PCGF5_ENST00000543648.1_Missense_Mutation_p.R147G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AGATTGTTTACGAAATAATGG	0.343000													16	30					0	0	0.00316338	0	0
DBX1	120237	broad.mit.edu	37	11	20178181	20178181	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:20178181G>A	ENST00000227256.3	-	4	727	c.728C>T	c.(727-729)tCc>tTc	p.S243F	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGCTCCGGGGGACGCACGGGG	0.627000													24	43					0	0	0.00395357	0	0
SMR3A	26952	broad.mit.edu	37	4	71232484	71232484	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71232484C>A	ENST00000226460.4	+	3	274	c.178C>A	c.(178-180)Cca>Aca	p.P60T		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	60	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCCTATGGTCCAGGGAGATT	0.557000													17	90					2.35188e-11	7.3758e-11	0.00074312	1	0
FBXW7	55294	broad.mit.edu	37	4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L	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.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(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)				TTGAACACAGCGGACTGCTGC	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								37	26					4.11147e-13	1.32407e-12	0.00375469	1	0
SLC4A5	57835	broad.mit.edu	37	2	74452068	74452068	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:74452068C>A	ENST00000394019.2	-	28	3542	c.3145G>T	c.(3145-3147)Gac>Tac	p.D1049Y	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R989L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D968Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D968Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1065						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCCAGGTCGTGCTGGGAA	0.473000													36	95					2.04263e-09	6.24254e-09	0.00428921	1	0
PLXNA4	91584	broad.mit.edu	37	7	131831391	131831391	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:131831391G>C	ENST00000359827.3	-	28	5895	c.4933C>G	c.(4933-4935)Ctg>Gtg	p.L1645V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1645V			Q9HCM2	PLXA4_HUMAN	plexin A4	1645						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACTCTCCAGGTCAGGAGTG	0.577000													85	50					0	0	0.00361006	0	0
SPAG9	9043	broad.mit.edu	37	17	49074019	49074019	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:49074019C>T	ENST00000262013.7	-	16	2083	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	SPAG9_ENST00000505279.1_Silent_p.K615K|SPAG9_ENST00000357122.4_Silent_p.K611K|SPAG9_ENST00000510283.1_Silent_p.K468K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	625					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ACTGCTCTCTCTTTTGTTCTC	0.393000													12	32					0	0	0.00244969	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	68					0	0	0.000602214	0	0
GPHN	10243	broad.mit.edu	37	14	67389587	67389587	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:67389587G>C	ENST00000478722.1	+	7	1782	c.661G>C	c.(661-663)Gac>Cac	p.D221H	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.D234H|GPHN_ENST00000459628.1_Missense_Mutation_p.D203H|GPHN_ENST00000315266.5_Missense_Mutation_p.D221H|GPHN_ENST00000305960.9_Missense_Mutation_p.D190H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	221	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAGAAGAAAGACAGTGGTGT	0.483000			T	MLL	AL								38	28					0	0	0.00428921	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560256	44560256	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44560256T>C	ENST00000332567.4	-	1	1732	c.1380A>G	c.(1378-1380)tcA>tcG	p.S460S	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	460					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAGAGCTCTGAGAAGACAT	0.592000													103	72					0	0	0.00361006	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750339	79750339	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:79750339G>T	ENST00000305428.3	+	2	1925	c.1850G>T	c.(1849-1851)cGt>cTt	p.R617L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	617						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGGGTGTCCGTGATGAAATC	0.488000													32	54					8.88839e-20	3.05109e-19	0.00209593	1	0
HCRTR2	3062	broad.mit.edu	37	6	55120039	55120039	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:55120039C>T	ENST00000370862.3	+	3	844	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	170					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			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)			AAAGCGGGCCCGTAACAGCAT	0.502000													32	48					0	0	0.00283554	0	0
SELE	6401	broad.mit.edu	37	1	169699747	169699747	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:169699747T>C	ENST00000333360.7	-	5	680	c.541A>G	c.(541-543)Aca>Gca	p.T181A	SELE_ENST00000367776.1_Missense_Mutation_p.T181A|SELE_ENST00000367782.4_Missense_Mutation_p.T181A|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.T181A|SELE_ENST00000367779.4_Missense_Mutation_p.T181A|SELE_ENST00000367777.1_Missense_Mutation_p.T181A|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.T181A|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	181	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCAGGGCTGTACAGTTCACA	0.433000													22	29					0	0	0.00188189	0	0
C6orf165	154313	broad.mit.edu	37	6	88127994	88127994	+	Silent	SNP	C	C	A	rs140079201		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:88127994C>A	ENST00000507897.1	+	7	783	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	C6ORF165_ENST00000369562.4_Silent_p.R234R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	234										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGAGACTGCCCGGAGCCAGGT	0.488000													22	37					7.45023e-12	2.34878e-11	0.00152264	1	0
SPTA1	6708	broad.mit.edu	37	1	158595968	158595968	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158595968G>T	ENST00000368148.3	-	42	6058	c.5878C>A	c.(5878-5880)Ctt>Att	p.L1960I	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.L1957I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1960					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTCACCAAGGTCTGCACCA	0.418000													16	29					3.57192e-18	1.21223e-17	0.00074312	1	0
CTNNA2	1496	broad.mit.edu	37	2	80846291	80846291	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:80846291A>T	ENST00000402739.4	+	17	2517	c.2512A>T	c.(2512-2514)Acc>Tcc	p.T838S	CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	838					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCAACTTTCTACCCACCTCCC	0.463000													8	6					0	0	0.000442599	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916498	149916498	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:149916498C>T	ENST00000369135.3	-	12	2084	c.1790G>A	c.(1789-1791)aGc>aAc	p.S597N		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	597					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCAGAATGCTCAGGCTCTG	0.557000													21	131					0	0	0.00152264	0	0
TUBB8	347688	broad.mit.edu	37	10	93792	93792	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93792C>A	ENST00000447903.2	-	4	639	c.324G>T	c.(322-324)gtG>gtT	p.V108V	TUBB8_ENST00000309812.4_Silent_p.V180V|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	180					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTAGGGCTCCACCACGGTGT	0.517000													21	71					1.06801e-11	3.35821e-11	0.00178596	1	0
FBXW2	26190	broad.mit.edu	37	9	123550177	123550177	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:123550177C>T	ENST00000373926.3	-	3	547	c.360G>A	c.(358-360)aaG>aaA	p.K120K	FBXW2_ENST00000340778.5_Silent_p.K120K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	120					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AATAAACCTTCTTCCAGTGCA	0.443000													45	55					0	0	0.00361006	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137513	40137513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:40137513G>T	ENST00000278198.2	-	2	2293	c.330C>A	c.(328-330)aaC>aaA	p.N110K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N110K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	110					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCTGATATGGTTCCTACTCA	0.453000													24	27					1.9806e-07	5.64942e-07	0.00229938	1	0
RBP3	5949	broad.mit.edu	37	10	48388466	48388466	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:48388466C>A	ENST00000224600.4	-	1	2525	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	804	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGGCGGGGCTCTGCCTCAA	0.627000													8	8					0.00307968	0.00791729	0.00307968	1	0
KAT7	11143	broad.mit.edu	37	17	47886541	47886541	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:47886541G>A	ENST00000503935.2	+	6	1292	c.256G>A	c.(256-258)Gac>Aac	p.D86N	KAT7_ENST00000424009.2_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000259021.4_Missense_Mutation_p.D242N|KAT7_ENST00000454930.2_Missense_Mutation_p.D103N|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	242					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CAGGCAAGATGACAACAACAG	0.473000													15	41					0	0	0.00316338	0	0
FN1	2335	broad.mit.edu	37	2	216248799	216248799	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216248799G>T	ENST00000354785.4	-	30	5207	c.4838C>A	c.(4837-4839)aCt>aAt	p.T1613N	FN1_ENST00000446046.1_Missense_Mutation_p.T1522N|FN1_ENST00000345488.5_Missense_Mutation_p.T1522N|FN1_ENST00000443816.1_Missense_Mutation_p.T1522N|FN1_ENST00000432072.2_Missense_Mutation_p.T1613N|FN1_ENST00000357867.4_Missense_Mutation_p.T1522N|FN1_ENST00000346544.3_Missense_Mutation_p.T1522N|FN1_ENST00000323926.6_Missense_Mutation_p.T1613N|FN1_ENST00000421182.1_Missense_Mutation_p.T1522N|FN1_ENST00000336916.4_Missense_Mutation_p.T1522N|FN1_ENST00000359671.1_Missense_Mutation_p.T1522N|FN1_ENST00000356005.4_Missense_Mutation_p.T1522N|FN1_ENST00000357009.2_Missense_Mutation_p.T1522N			P02751	FINC_HUMAN	fibronectin 1	1616	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCACGGCCAGTGACAGCATA	0.498000													37	57					4.46736e-08	1.29586e-07	0.00111076	1	0
ATMIN	23300	broad.mit.edu	37	16	81069786	81069786	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:81069786A>T	ENST00000299575.4	+	1	335	c.311A>T	c.(310-312)cAc>cTc	p.H104L		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	104					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCAACATGCACCTAGTCAAG	0.741000													12	4					0	0	0.00244969	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215646	130215646	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130215646G>T	ENST00000276211.5	+	2	352	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	3					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAGAATGGGTGGCTGCATTCC	0.517000													51	74					4.01344e-20	1.38562e-19	0.00361006	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388366	119388366	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119388366A>T	ENST00000326624.2	+	2	1324	c.1096A>T	c.(1096-1098)Agt>Tgt	p.S366C	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S366C	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	366					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAAAATACCAGTTTTGATGG	0.373000													51	96					0	0	0.00361006	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532119	84532119	+	RNA	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:84532119T>A	ENST00000527857.1	+	0	2141					NR_026851.1																						CCAGCGCAGATGGGGCCTGCC	0.488000													16	34					0	0	0.00400662	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	94					0	0	0.00024832	0	0
KNG1	3827	broad.mit.edu	37	3	186450367	186450367	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:186450367G>T	ENST00000265023.4	+	7	1046	c.834G>T	c.(832-834)ctG>ctT	p.L278L	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L278L|KNG1_ENST00000447445.1_Silent_p.L242L	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	278	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCCCAGAGCTGGAGGAGACAC	0.443000													10	110					4.68919e-08	1.35692e-07	0.000673444	1	0
OR10C1	442194	broad.mit.edu	37	6	29408338	29408338	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29408338T>A	ENST00000444197.2	+	1	1256	c.546T>A	c.(544-546)ccT>ccA	p.P182P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGATCCAGCCTGTCCTGCAGC	0.582000													62	168					0	0	0.00361006	0	0
IGSF6	10261	broad.mit.edu	37	16	21654459	21654459	+	Missense_Mutation	SNP	C	C	A	rs146422757		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21654459C>A	ENST00000268389.4	-	5	663	c.602G>T	c.(601-603)cGt>cTt	p.R201L	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	201					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTGAAAAATACGCCGAGCACT	0.328000													64	55					2.37532e-16	7.99335e-16	0.00361006	1	0
CRHR2	1395	broad.mit.edu	37	7	30701809	30701809	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:30701809C>A	ENST00000471646.1	-	7	1138	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	CRHR2_ENST00000506074.2_Missense_Mutation_p.A241S|CRHR2_ENST00000348438.4_Missense_Mutation_p.A268S|CRHR2_ENST00000341843.4_Missense_Mutation_p.A227S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	241					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGCCCAGGCGACGATGATG	0.562000													35	52					5.71845e-15	1.88725e-14	0.00111076	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135106020	135106020	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135106020G>A	ENST00000368563.2	-	8	1553	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	TUBGCP2_ENST00000543663.1_Silent_p.I427I|TUBGCP2_ENST00000252936.3_Silent_p.I399I|TUBGCP2_ENST00000417178.2_Silent_p.I269I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	399					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTCGTGGATGATGCCCCTGT	0.632000													8	19					0	0	0.000274275	0	0
AOX1	316	broad.mit.edu	37	2	201476122	201476122	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201476122T>C	ENST00000374700.2	+	13	1410	c.1169T>C	c.(1168-1170)aTt>aCt	p.I390T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	390	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAACGACAGATTCCTTTAAAT	0.398000													68	102					0	0	0.00361006	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675055	40675055	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:40675055C>A	ENST00000416151.2	+	1	134	c.19C>A	c.(19-21)Ccg>Acg	p.P7T	KNSTRN_ENST00000448395.2_Missense_Mutation_p.P7T|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P7T	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCCCGAAGCCCCGCCCCTGGA	0.592000													10	13					2.17888e-05	5.90564e-05	0.000442599	1	0
ABCA8	10351	broad.mit.edu	37	17	66914238	66914238	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66914238C>T	ENST00000269080.2	-	14	2014	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	ABCA8_ENST00000430352.2_Missense_Mutation_p.R666H|ABCA8_ENST00000586539.1_Missense_Mutation_p.R666H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAGGATCACGCGGTCTGTTTT	0.458000													22	39					0	0	0.00332997	0	0
FUT9	10690	broad.mit.edu	37	6	96651555	96651555	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651555C>G	ENST00000302103.5	+	3	850	c.524C>G	c.(523-525)aCa>aGa	p.T175R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	175					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACGGTAAGCACAAATCCCTTC	0.463000													18	38					0	0	0.000958276	0	0
CT47B1	643311	broad.mit.edu	37	X	120008943	120008943	+	Silent	SNP	C	C	A	rs139114591	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:120008943C>A	ENST00000371311.3	-	1	836	c.582G>T	c.(580-582)gcG>gcT	p.A194A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	194										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTGGACCGACGCAGCCTCCT	0.706000													38	69					8.73648e-17	2.94825e-16	0.00428921	1	0
ODAM	54959	broad.mit.edu	37	4	71068636	71068636	+	Splice_Site	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71068636T>C	ENST00000396094.2	+	9	858		c.e9+2			NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated						biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GAAGAGAAGGTAGAGTCATGA	0.353000													13	11					0	0	0.00316338	0	0
RP1	6101	broad.mit.edu	37	8	55538955	55538955	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55538955C>T	ENST00000220676.1	+	4	2661	c.2513C>T	c.(2512-2514)tCt>tTt	p.S838F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	838					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)			GCACCGCAATCTCAAGCAGAA	0.313000													22	32					0	0	0.00229938	0	0
ITIH3	3699	broad.mit.edu	37	3	52829637	52829637	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:52829637G>T	ENST00000449956.2	+	2	118	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38W	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567000													5	10					0.000157383	0.000415298	0.00307968	1	0
ZW10	9183	broad.mit.edu	37	11	113614600	113614600	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:113614600T>C	ENST00000200135.3	-	10	1579	c.1435A>G	c.(1435-1437)Atc>Gtc	p.I479V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	479					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GACTCACTGATACGGCATGTG	0.413000													30	56					0	0	0.001512	0	0
CACNA1B	774	broad.mit.edu	37	9	140901299	140901299	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:140901299G>A	ENST00000371372.1	+	16	2200	c.2055G>A	c.(2053-2055)tcG>tcA	p.S685S	CACNA1B_ENST00000371357.1_Silent_p.S686S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.S685S|CACNA1B_ENST00000371355.4_Silent_p.S686S|CACNA1B_ENST00000371363.1_Silent_p.S685S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	685					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			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)	GCATGTTCTCGTCCTTTTACT	0.552000													6	17					0	0	0.00198382	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677281	219677281	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:219677281G>T	ENST00000258415.4	+	4	1080	c.653G>T	c.(652-654)tGc>tTc	p.C218F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	218					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TCAGCTATTTGCTACATCCTG	0.547000													118	155					7.7863e-71	3.06842e-70	0.00361006	1	0
GPR158	57512	broad.mit.edu	37	10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:25886754G>T	ENST00000376351.3	+	11	2558	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	733						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M733I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGATGATCACAAACA	0.448000													34	68					3.66082e-28	1.3536e-27	0.00111076	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597402	136597402	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:136597402T>A	ENST00000531224.1	-	5	1513	c.1261A>T	c.(1261-1263)Aaa>Taa	p.K421*	BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.K421*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	421					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCAAAACTTTTACCCTGATCT	0.423000													97	225					0	0	0.00361006	0	0
KCNH7	90134	broad.mit.edu	37	2	163292054	163292054	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:163292054G>T	ENST00000332142.5	-	8	1707	c.1608C>A	c.(1606-1608)cgC>cgA	p.R536R	KCNH7_ENST00000328032.4_Silent_p.R529R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	536					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCCTGGCCACGCGCACAAGAC	0.453000													18	24					3.52763e-06	9.6929e-06	0.000566183	1	0
ATP1A2	477	broad.mit.edu	37	1	160097392	160097392	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:160097392C>T	ENST00000361216.3	+	8	888	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R267C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	267					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)			GGTGATGGGCCGCATAGCTAC	0.592000													31	49					0	0	0.001512	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933495	94933495	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:94933495C>A	ENST00000337425.5	-	3	981	c.907G>T	c.(907-909)Gcc>Tcc	p.A303S	SERPINA9_ENST00000298845.7_Missense_Mutation_p.A203S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.A154S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A285S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.A205S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.A267S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	285					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCTGACAAGGCCTGTTCCAGT	0.537000													19	20					8.00594e-06	2.18476e-05	0.000958276	1	0
LTB4R	1241	broad.mit.edu	37	14	24785367	24785367	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:24785367G>T	ENST00000396789.4	+	2	2235	c.510G>T	c.(508-510)ccG>ccT	p.P170P	LTB4R_ENST00000345363.3_Silent_p.P170P|LTB4R_ENST00000396782.2_Silent_p.P170P	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	170					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGTGCTTCCCGCGGTACCCCA	0.622000													39	25					4.0492e-12	1.28672e-11	0.00148497	1	0
MTUS2	23281	broad.mit.edu	37	13	29898764	29898764	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:29898764G>T	ENST00000431530.3	+	5	2909	c.2851G>T	c.(2851-2853)Gct>Tct	p.A951S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	941	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.A951T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGAAAGATGCTCAGAAAGA	0.378000													6	0					2.0095e-06	5.57263e-06	0.00198382	1	0
OR8K5	219453	broad.mit.edu	37	11	55927362	55927362	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927362C>G	ENST00000313447.1	-	1	431	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144L(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATGCCCACCAGTACATGAC	0.403000													32	71					0	0	0.00283554	0	0
RASEF	158158	broad.mit.edu	37	9	85627405	85627405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:85627405C>T	ENST00000376447.3	-	5	1047	c.787G>A	c.(787-789)Gta>Ata	p.V263I		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	263					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTGACTTACGCGTTTTGAT	0.333000													5	14					0	0	0.000602214	0	0
COL11A1	1301	broad.mit.edu	37	1	103461595	103461595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103461595G>A	ENST00000358392.2	-	27	2598	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P633S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P749S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P710S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	749	Triple-helical region.				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			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)		GGACCAGGGGGACCCTGAAAT	0.363000													28	46					0	0	0.001512	0	0
VWA7	80737	broad.mit.edu	37	6	31743183	31743183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:31743183C>T	ENST00000375686.3	-	4	774	c.537G>A	c.(535-537)tgG>tgA	p.W179*	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Nonsense_Mutation_p.W179*|VWA7_ENST00000447450.1_Nonsense_Mutation_p.W179*	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	179						extracellular region											CCAGCTCCACCCAGTTGCTAT	0.587000													35	20					0	0	0.00283554	0	0
COL5A2	1290	broad.mit.edu	37	2	189909940	189909940	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:189909940C>A	ENST00000374866.3	-	47	3602	c.3328G>T	c.(3328-3330)Gga>Tga	p.G1110*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1110					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGTGGTCCTATAGGACCC	0.323000													12	17					2.62699e-14	8.52881e-14	0.00316338	1	0
DMD	1756	broad.mit.edu	37	X	32361265	32361265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:32361265C>A	ENST00000357033.4	-	40	5931	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1905*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1909	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTTCCTTTCATCTCTGGGC	0.343000													25	12					7.07758e-08	2.04312e-07	0.000720815	1	0
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582000													18	49					0	0	0.00152264	0	0
ZNF630	57232	broad.mit.edu	37	X	47918863	47918863	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:47918863T>A	ENST00000276054.4	-	5	1530	c.596A>T	c.(595-597)aAg>aTg	p.K199M	ZNF630_ENST00000409324.3_Missense_Mutation_p.K323M|ZNF630_ENST00000442455.3_Missense_Mutation_p.K309M|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTTCCATACTTAGTACATTC	0.433000													26	7					0	0	0.00395357	0	0
GRIA4	2893	broad.mit.edu	37	11	105795455	105795455	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:105795455C>T	ENST00000393127.2	+	12	2253	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	GRIA4_ENST00000282499.5_Silent_p.L603L|GRIA4_ENST00000525187.1_Silent_p.L603L|GRIA4_ENST00000530497.1_Silent_p.L603L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	603					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)	CTGGTTTTCCCTGGGTGCTTT	0.463000													25	29					0	0	0.00395357	0	0
FAM210A	125228	broad.mit.edu	37	18	13681843	13681843	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:13681843T>A	ENST00000322247.3	-	3	621	c.234A>T	c.(232-234)ccA>ccT	p.P78P	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Silent_p.P78P	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	78						integral to membrane											GAAGGACTCCTGGTTGGGGTG	0.488000													59	108					0	0	0.00361006	0	0
LONRF1	91694	broad.mit.edu	37	8	12586411	12586411	+	Splice_Site	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:12586411T>G	ENST00000398246.3	-	10	2078	c.2010_splice	c.e10+1	p.K670_splice	LONRF1_ENST00000533751.1_Splice_Site_p.K313_splice|LONRF1_ENST00000525024.1_Splice_Site_p.K96_splice	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	670	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAAAATACCTTAACATCTTC	0.403000													28	47					0	0	0.000878237	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13474788	13474788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:13474788delG	ENST00000376126.2	-	3	1340	c.1341delC	c.(1339-1341)ccfs	p.P447fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	447										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCCTGTTGGGCTCCCTTA	0.562													3	6	---	---	---	---					
AK5	26289	broad.mit.edu	37	1	77752660	77752660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:77752660delA	ENST00000344720.5	+	2	1043	c.17delA	c.(16-18)gafs	p.E6fs	AK5_ENST00000354567.2_Frame_Shift_Del_p.E32fs|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCTAAGCCCGAAGATCCAGTA	0.338													32	36	---	---	---	---					
OR11L1	391189	broad.mit.edu	37	1	248004498	248004499	+	Frame_Shift_Ins	INS	-	-	A	rs147783465	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248004498_248004499insA	ENST00000355784.2	-	1	755_756	c.700_701insT	c.(700-702)gagfs	p.E234fs		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234Q(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)			GGTCTTTCTCCGGCCAGAGGTG	0.505													21	65	---	---	---	---					
PTH2R	5746	broad.mit.edu	37	2	209308142	209308142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:209308142delC	ENST00000272847.2	+	6	792	c.579delC	c.(577-579)agfs	p.S193fs	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAGCTACAAGCATCTTTGTCA	0.398													24	33	---	---	---	---					
FN1	2335	broad.mit.edu	37	2	216271041	216271041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216271041delG	ENST00000354785.4	-	19	3275	c.2906delC	c.(2905-2907)ctfs	p.P969fs	FN1_ENST00000446046.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.P969fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.P969fs|FN1_ENST00000359671.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.P969fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.P969fs			P02751	FINC_HUMAN	fibronectin 1	969	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGACCCCAGGGGACAGCCC	0.567													27	51	---	---	---	---					
PDHA2	5161	broad.mit.edu	37	4	96762121	96762121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:96762121delG	ENST00000295266.4	+	1	883	c.820delG	c.(820-822)gafs	p.G274fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	274					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGTAGATCTGGAAAGGGGCC	0.458													39	17	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187557372	187557372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:187557372delA	ENST00000441802.2	-	6	4199	c.3990delT	c.(3988-3990)aafs	p.N1330fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1330	Cadherin 11.		N -> S (in dbSNP:rs874111).		actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGGGCGACCATTGTCAACTG	0.428										HNSCC(5;0.00058)			24	12	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176675268	176675269	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:176675268_176675269insA	ENST00000439151.2	+	11	4629_4630	c.4584_4585insA	c.(4582-4587)tcaaaafs	p.SK1528fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.SK1425fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.SK1259fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.SK1259fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1528					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCCTGCCTCTAAAAAAATGCA	0.495			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	10	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7568065	7568066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:7568065_7568066insC	ENST00000379802.3	+	10	1533_1534	c.1192_1193insC	c.(1192-1194)catfs	p.H398fs	DSP_ENST00000418664.2_Frame_Shift_Ins_p.H398fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	398	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCCAGGACTCCATCAGGAAG	0.515													16	51	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	70092801	70092802	+	Frame_Shift_Ins	INS	-	-	G	rs148278852		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:70092801_70092802insG	ENST00000370598.1	+	31	5175_5176	c.4354_4355insG	c.(4354-4356)ggafs	p.G1452fs	BAI3_ENST00000238918.8_Frame_Shift_Ins_p.G658fs|BAI3_ENST00000546190.1_Frame_Shift_Ins_p.G416fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1452W(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACAGATTTCGGGATATACCA	0.386													10	20	---	---	---	---					
MAS1	4142	broad.mit.edu	37	6	160328115	160328115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:160328115delC	ENST00000252660.4	+	1	142	c.128delC	c.(127-129)tcfs	p.S43fs		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	43					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATGAGCATCTCCCCAGTGGGG	0.522													44	71	---	---	---	---					
LOC440173	440173	broad.mit.edu	37	9	89626452	89626453	+	RNA	INS	-	-	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:89626452_89626453insT	ENST00000602579.1	-	0	256					NR_027471.1																						tttgttttttgttttttgtttt	0.450													4	7	---	---	---	---					
MDGA2	161357	broad.mit.edu	37	14	47342647	47342647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:47342647delC	ENST00000426342.1	-	14	2593	c.1847delG	c.(1846-1848)gafs	p.G616fs	MDGA2_ENST00000399232.2_Frame_Shift_Del_p.G914fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.G845fs|MDGA2_ENST00000399222.3_Frame_Shift_Del_p.G47fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.G616fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATGTTGTCCATACATGTG	0.343													37	21	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22333261	22333261	+	RNA	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:22333261delC	ENST00000558896.1	+	0	583																											CTATGTTGAGCCCCCTCATCT	0.398													18	49	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31214472	31214473	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:31214472_31214473delAG	ENST00000362065.4	+	8	2378_2379	c.2087_2088delAG	c.(2086-2088)cfs	p.Q696fs	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	696					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTTTTGTCTCAGAGAATTTATT	0.426								Direct reversal of damage					39	48	---	---	---	---					
COPS2	9318	broad.mit.edu	37	15	49420932	49420946	+	In_Frame_Del	DEL	ACATCAGCTACATCT	ACATCAGCTACATCT	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:49420932_49420946delACATCAGCTACATCT	ENST00000388901.5	-	12	1213_1227	c.1140_1154delAGATGTAGCTGATGT	c.(1138-1155)atg>at	p.IDVADV380del	COPS2_ENST00000299259.6_In_Frame_Del_p.IDVADV387del|COPS2_ENST00000542928.1_In_Frame_Del_p.IDVADV316del	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	380	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAAGCTCTCCACATCAGCTACATCTATGTTTAACT	0.284													14	125	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													20	379	---	---	---	---					
ZNF99	7652	broad.mit.edu	37	19	22941167	22941167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:22941167delC	ENST00000397104.3	-	5	1270	c.1271delG	c.(1270-1272)gcfs	p.G424fs	ZNF99_ENST00000596209.1_Frame_Shift_Del_p.G515fs					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.338													29	33	---	---	---	---					
TBC1D10A	83874	broad.mit.edu	37	22	30688801	30688803	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:30688801_30688803delCGC	ENST00000215790.7	-	9	1252_1254	c.1088_1090delGCG	c.(1087-1092)caa>c	p.RE363del	TBC1D10A_ENST00000403362.1_In_Frame_Del_p.RE275del|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_In_Frame_Del_p.RE370del	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATGAGGTGTTCGCGCTCAATCTG	0.635													24	12	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70468637	70468638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:70468637_70468638insG	ENST00000373998.1	-	9	2332_2333	c.1635_1636insC	c.(1633-1638)ccgcagfs	p.Q546fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.Q548fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.Q548fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	546					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAAGCTGCAGGGTCGGGGAG	0.559													7	12	---	---	---	---					
