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
IFT88	8100	broad.mit.edu	37	13	21172820	21172820	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:21172820G>T	ENST00000382778.4	+	11	1770	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	IFT88_ENST00000351808.5_Missense_Mutation_p.V209F|IFT88_ENST00000319980.6_Missense_Mutation_p.V218F|IFT88_ENST00000537103.1_Missense_Mutation_p.V190F			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	218					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.V218I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGTATTCAGTTAATGAAAT	0.323000													9	81					2.80697e-09	4.19975e-09	0.000978	1	0
ATP2B3	492	broad.mit.edu	37	X	152845456	152845456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:152845456C>T	ENST00000370186.1	+	21	3801	c.3475C>T	c.(3475-3477)Ccg>Tcg	p.P1159S	ATP2B3_ENST00000370181.2_Missense_Mutation_p.P1159S|ATP2B3_ENST00000349466.2_Silent_p.F1121F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P1173S|ATP2B3_ENST00000263519.4_Silent_p.F1121F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	0					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCGTTCCGTAGCTCGC	0.562000													51	70					0	0	0.003610	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692589	140692589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:140692589G>A	ENST00000446041.2	+	6	709	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC25A36_ENST00000453248.2_Missense_Mutation_p.E136K|SLC25A36_ENST00000324194.6_Missense_Mutation_p.E162K	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	162					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGTGCTTTTGAATGTGTTCG	0.353000													11	23					0	0	0.003163	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	71					0	0	0.000248	0	0
TRIO	7204	broad.mit.edu	37	5	14381332	14381332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14381332G>C	ENST00000344204.4	+	21	3565	c.3541G>C	c.(3541-3543)Gag>Cag	p.E1181Q	TRIO_ENST00000509967.2_Missense_Mutation_p.E1132Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E1181Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1181					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTCCTGAAAGAGCACGAGGA	0.473000													18	45					0	0	0.006122	0	0
MTL5	9633	broad.mit.edu	37	11	68514686	68514686	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:68514686G>T	ENST00000443940.2	-	3	706	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S207Y|MTL5_ENST00000255087.5_Missense_Mutation_p.S207Y			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	207					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CATTGGGTTGGAATCTTTCTT	0.418000													11	31					1.61879e-10	2.4344e-10	0.001368	1	0
MT1L	4500	broad.mit.edu	37	16	56652550	56652550	+	RNA	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:56652550C>T	ENST00000565768.1	+	0	231					NR_001447.2				metallothionein 1L (gene/pseudogene)																		CCCAGGGCTGCGTCTGCAAAG	0.597000													82	113					0	0	0.003610	0	0
OR4S2	219431	broad.mit.edu	37	11	55418944	55418944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:55418944G>T	ENST00000312422.2	+	1	565	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGCCTGCACAGAAACATACAT	0.438000													35	170					9.17885e-22	1.40551e-21	0.003271	1	0
PRPF8	10594	broad.mit.edu	37	17	1582167	1582167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582167C>G	ENST00000572621.1	-	11	1873	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	PRPF8_ENST00000304992.6_Missense_Mutation_p.K536N			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	536						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGAGATTTCTTTCTTTCCT	0.468000													6	43					0	0	0.001168	0	0
IL7R	3575	broad.mit.edu	37	5	35875625	35875625	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:35875625T>A	ENST00000303115.3	+	7	941	c.812T>A	c.(811-813)aTc>aAc	p.I271N	IL7R_ENST00000506850.1_Missense_Mutation_p.S240T|IL7R_ENST00000343305.4_Missense_Mutation_p.S240T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	271					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTAAGCCTATCGTATGGCCC	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						13	27					0	0	0.003163	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													66	17					0	0	0.003610	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635731	34635731	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34635731G>T	ENST00000378892.1	-	3	730	c.303C>A	c.(301-303)gtC>gtA	p.V101V	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000277010.4_Silent_p.V190V			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GGGTGCTGAAGACAGTGTCGG	0.617000													14	55					0.000151284	0.000220186	0.001855	1	0
C3	718	broad.mit.edu	37	19	6684804	6684804	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6684804T>C	ENST00000245907.6	-	31	4103	c.4011A>G	c.(4009-4011)aaA>aaG	p.K1337K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1337					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCTTGGCCTTTTCCTTCAG	0.537000													3	137					0	0	0.004672	0	0
ZNF540	163255	broad.mit.edu	37	19	38103198	38103198	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:38103198C>T	ENST00000592533.1	+	5	1349	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	ZNF540_ENST00000343599.5_Silent_p.C339C|ZNF540_ENST00000316433.4_Silent_p.C339C|ZNF540_ENST00000589117.1_Silent_p.C307C	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGTGTATGCGGACAACTTA	0.353000													5	58					0	0	0.000602	0	0
ZIC3	7547	broad.mit.edu	37	X	136652129	136652129	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:136652129C>A	ENST00000287538.5	+	3	1854	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	435					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTATAGCTTCTGCAAACAGT	0.438000													82	146					3.37217e-29	5.19067e-29	0.003610	1	0
WDR60	55112	broad.mit.edu	37	7	158679719	158679719	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:158679719G>C	ENST00000407559.3	+	7	1101	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	315										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGGCATGCTGAGAATTTAGT	0.313000													34	13					0	0	0.002445	0	0
NUP98	4928	broad.mit.edu	37	11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:3740767G>C	ENST00000324932.7	-	18	2694	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	NUP98_ENST00000397004.4_Missense_Mutation_p.I758M|NUP98_ENST00000397007.4_Missense_Mutation_p.I775M|NUP98_ENST00000359171.4_Missense_Mutation_p.I758M|NUP98_ENST00000355260.3_Missense_Mutation_p.I758M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	775	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	23					0	0	0.004482	0	0
KCNH7	90134	broad.mit.edu	37	2	163693250	163693250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:163693250C>T	ENST00000332142.5	-	2	203	c.104G>A	c.(103-105)aGa>aAa	p.R35K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R35K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	35					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R35I(1)		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)	GTTCTGCACTCTGGCATTTGC	0.403000													10	16					0	0	0.006214	0	0
ZNF155	7711	broad.mit.edu	37	19	44500612	44500612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:44500612G>C	ENST00000270014.2	+	5	731	c.603G>C	c.(601-603)gaG>gaC	p.E201D	ZNF155_ENST00000407951.2_Missense_Mutation_p.E212D|ZNF155_ENST00000590615.1_Missense_Mutation_p.E201D	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	201						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACGTGGGAGAGAAACTCTTTA	0.413000													35	135					0	0	0.003271	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839926	27839926	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:27839926C>T	ENST00000328488.2	-	1	173	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGTCGACTTCTGGTAGCGGC	0.657000													37	68					0	0	0.006999	0	0
MYCBP2	23077	broad.mit.edu	37	13	77667369	77667369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:77667369G>A	ENST00000407578.2	-	59	10564	c.10298C>T	c.(10297-10299)tCa>tTa	p.S3433L	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3395L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3395L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTACTGATATATACGG	0.393000													5	80					0	0	0.000602	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856684	54856684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:54856684G>T	ENST00000333896.5	+	13	2759	c.2374G>T	c.(2374-2376)Gaa>Taa	p.E792*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E805*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	805					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.E805K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACGCTGCACGAACAAGCCAG	0.607000													18	55					1.67942e-08	2.50634e-08	0.006122	1	0
ZFHX3	463	broad.mit.edu	37	16	72992559	72992559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:72992559G>A	ENST00000268489.5	-	2	2158	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	496					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTCGCTTGGAAAGAGTCCT	0.577000													32	48					0	0	0.002445	0	0
SH2D5	400745	broad.mit.edu	37	1	21050978	21050978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:21050978C>T	ENST00000375031.1	-	5	913	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SH2D5_ENST00000444387.2_Missense_Mutation_p.E181K|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	97										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAAGGGCTCCCGCACCAGG	0.692000													7	15					0	0	0.001984	0	0
IKZF1	10320	broad.mit.edu	37	7	50467665	50467665	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:50467665G>A	ENST00000331340.3	+	8	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_ENST00000343574.5_Silent_p.E213E|IKZF1_ENST00000349824.4_Silent_p.E157E|IKZF1_ENST00000439701.1_Silent_p.E258E|IKZF1_ENST00000438033.1_Silent_p.E213E|IKZF1_ENST00000346667.4_Silent_p.E70E|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.E213E|IKZF1_ENST00000359197.5_Silent_p.E258E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	20					0	0	0.000602	0	0
LTK	4058	broad.mit.edu	37	15	41804949	41804949	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:41804949C>T	ENST00000263800.6	-	3	411	c.315G>A	c.(313-315)ctG>ctA	p.L105L	LTK_ENST00000453182.2_Silent_p.L105L|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.L105L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	105					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCACGCCTCTCAGCTGCCCGG	0.697000										TSP Lung(18;0.14)			7	15					0	0	0.004482	0	0
ACP6	51205	broad.mit.edu	37	1	147131131	147131131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:147131131C>T	ENST00000369238.5	-	4	950	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	ACP6_ENST00000392988.2_Missense_Mutation_p.R168Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	168					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCCAGATTCCGAAAAATGTT	0.413000													33	76					0	0	0.002445	0	0
NYAP1	222950	broad.mit.edu	37	7	100085946	100085946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100085946G>A	ENST00000423930.1	+	4	761	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	NYAP1_ENST00000454988.1_Missense_Mutation_p.R144Q|NYAP1_ENST00000300179.2_Missense_Mutation_p.R201Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	201																	AGGGGGTCCCGAGTAGCTGGG	0.632000													34	83					0	0	0.002096	0	0
ELF4	2000	broad.mit.edu	37	X	129203540	129203540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:129203540C>T	ENST00000308167.5	-	8	1301	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ELF4_ENST00000335997.7_Missense_Mutation_p.E308K	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	308					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGTGGCTTCGCTGCTCTCA	0.602000			T	ERG	AML								11	123					0	0	0.008291	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043802	26043802	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:26043802C>T	ENST00000357905.2	-	1	83	c.84G>A	c.(82-84)aaG>aaA	p.K28K		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507000													45	128					0	0	0.002852	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795394	142795394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:142795394G>A	ENST00000370498.1	-	2	1037	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	95										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)					CTCCTGTGAAGATCCTTCAGC	0.502000													165	354					0	0	0.003610	0	0
NR3C1	2908	broad.mit.edu	37	5	142780147	142780147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:142780147C>G	ENST00000343796.2	-	2	1251	c.258G>C	c.(256-258)atG>atC	p.M86I	NR3C1_ENST00000394464.2_Missense_Mutation_p.M86I|NR3C1_ENST00000231509.3_Missense_Mutation_p.M86I|NR3C1_ENST00000415690.2_Missense_Mutation_p.M86I|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000503201.1_Missense_Mutation_p.M86I|NR3C1_ENST00000394466.2_Missense_Mutation_p.M86I|NR3C1_ENST00000504572.1_Missense_Mutation_p.M86I|NR3C1_ENST00000424646.2_Missense_Mutation_p.M86I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	86	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATACAGTCCCATTGAGAGTG	0.473000													4	169					0	0	0.000248	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967529	58967529	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58967529C>T	ENST00000391696.1	+	3	2120	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ZNF324B_ENST00000545523.1_Silent_p.F406F|ZNF324B_ENST00000336614.4_Silent_p.F406F			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCTGCCTTCAGCCAGGGCT	0.662000													5	58					0	0	0.000602	0	0
GBF1	8729	broad.mit.edu	37	10	104125205	104125205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:104125205C>T	ENST00000369983.3	+	18	2415	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	719	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GAAGGGGATTCAGTTTCTGCA	0.473000													14	41					0	0	0.004990	0	0
FGFR4	2264	broad.mit.edu	37	5	176523644	176523644	+	Silent	SNP	C	C	T	rs67419797		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:176523644C>T	ENST00000292408.4	+	16	2300	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	FGFR4_ENST00000502906.1_Silent_p.L685L|FGFR4_ENST00000393648.2_Silent_p.L617L|FGFR4_ENST00000292410.3_Silent_p.L645L|FGFR4_ENST00000393637.1_Silent_p.L645L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	685	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TCTTCACCCTCGGGGGCTCCC	0.667000										TSP Lung(9;0.080)			13	33					0	0	0.001368	0	0
HLA-A	3105	broad.mit.edu	37	6	29910684	29910684	+	Nonsense_Mutation	SNP	G	G	A	rs41542016		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:29910684G>A	ENST00000396634.1	+	4	565	c.224G>A	c.(223-225)tGg>tAg	p.W75*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W75*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGCGCCGTGGATAGAGCAG	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	17					0	0	0.000248	0	0
CD96	10225	broad.mit.edu	37	3	111304196	111304196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:111304196G>A	ENST00000352690.4	+	5	1018	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	CD96_ENST00000283285.5_Missense_Mutation_p.E276K|CD96_ENST00000438817.2_Missense_Mutation_p.E260K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	276					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGTGATTGTGGAAAATAACTC	0.413000									Opitz Trigonocephaly syndrome				6	30					0	0	0.003080	0	0
ATXN3	4287	broad.mit.edu	37	14	92549555	92549555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:92549555C>T	ENST00000545170.1	-	7	591	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ATXN3_ENST00000532032.1_Missense_Mutation_p.D175N|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.D160N|ATXN3_ENST00000429774.2_Missense_Mutation_p.D160N|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.D175N|ATXN3_ENST00000340660.6_Missense_Mutation_p.D120N	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	175	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGGAGTTGGTCAGCTTCGCAA	0.373000													42	61					0	0	0.007835	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872405	125872405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:125872405G>C	ENST00000393434.2	-	7	1089	c.740C>G	c.(739-741)tCa>tGa	p.S247*	ALDH1L1_ENST00000455064.2_Nonsense_Mutation_p.S72*|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.S257*|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.S146*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	247					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTCAGCGTTGAGTTGAAAAA	0.567000													18	33					0	0	0.006122	0	0
SLC25A43	203427	broad.mit.edu	37	X	118586986	118586986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118586986C>A	ENST00000217909.7	+	5	1328	c.984C>A	c.(982-984)ttC>ttA	p.F328L	SLC25A43_ENST00000336249.7_3'UTR|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	328					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TAAAGAAGTTCTTCAAAACGA	0.388000													36	82					1.06647e-15	1.62458e-15	0.003755	1	0
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:150840608G>A	ENST00000474524.1	+	3	281	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MED12L_ENST00000309237.4_Silent_p.L81L|MED12L_ENST00000422248.2_Silent_p.L81L|MED12L_ENST00000273432.4_Silent_p.L81L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378000													5	14					0	0	0.001168	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593497	7593497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:7593497C>T	ENST00000264079.6	+	8	1017	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	298					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACAGCTTCCGGCTCCTGTT	0.632000													10	30					0	0	0.000978	0	0
CASKIN1	57524	broad.mit.edu	37	16	2234836	2234836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:2234836G>A	ENST00000343516.6	-	14	1450	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	453	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GACCTGCCCGGCGTGGGCCAC	0.687000													7	29					0	0	0.003080	0	0
SEPT6	23157	broad.mit.edu	37	X	118763373	118763373	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118763373G>A	ENST00000394610.1	-	9	1452	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	SEPT6_ENST00000360156.7_Silent_p.F396F|SEPT6_ENST00000354228.4_Silent_p.F396F|SEPT6_ENST00000354416.3_Silent_p.F396F|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394616.4_Silent_p.F338F|SEPT6_ENST00000394617.2_Silent_p.F426F|SEPT6_ENST00000489216.1_Silent_p.F396F|SEPT6_ENST00000343984.5_Silent_p.F396F	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	396					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTTTGCTTGAAAGCATTCA	0.493000			T	MLL	AML								67	101					0	0	0.003610	0	0
TTC25	83538	broad.mit.edu	37	17	40087031	40087031	+	RNA	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:40087031G>A	ENST00000591658.1	+	0	123							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.E19K(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTATATGGCCGAAGGCGAGCG	0.542000													5	8					0	0	0.001168	0	0
DSP	1832	broad.mit.edu	37	6	7586033	7586033	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:7586033G>A	ENST00000379802.3	+	24	8879	c.8538G>A	c.(8536-8538)cgG>cgA	p.R2846R	DSP_ENST00000418664.2_Silent_p.R2247R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				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)		GTGGGTCCCGGAGAGGAAGCT	0.577000													39	119					0	0	0.006230	0	0
PRDM2	7799	broad.mit.edu	37	1	14108975	14108975	+	Missense_Mutation	SNP	C	C	T	rs61747666		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108975C>T	ENST00000235372.7	+	8	5541	c.4685C>T	c.(4684-4686)tCg>tTg	p.S1562L	PRDM2_ENST00000311066.5_Missense_Mutation_p.S1562L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1361L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1361L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1562						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTGCAGCTTCGGTGAAATCC	0.512000													23	61					0	0	0.002299	0	0
KARS	3735	broad.mit.edu	37	16	75665700	75665700	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:75665700C>T	ENST00000319410.5	-	9	1174	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.R323R	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	323					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)	TCCCCTCATTCCGGAACTGGC	0.463000													72	100					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21293932	21293932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:21293932C>G	ENST00000313654.9	+	2	584	c.343C>G	c.(343-345)Cct>Gct	p.P115A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P115A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	115	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGCACATCCTGTCACCAA	0.438000													10	26					0	0	0.000978	0	0
OR10X1	128367	broad.mit.edu	37	1	158548948	158548948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:158548948C>T	ENST00000368150.1	-	1	741	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGCTTGCCCTCAGCTGAAGGG	0.473000													41	81					0	0	0.002522	0	0
MDC1	9656	broad.mit.edu	37	6	30671427	30671427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30671427C>T	ENST00000376406.3	-	10	6180	c.5533G>A	c.(5533-5535)Gat>Aat	p.D1845N	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.D1581N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1845	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTGCAGTATCTTCTTCCTCT	0.483000								Other conserved DNA damage response genes					59	143					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	16957859	16957859	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:16957859C>G	ENST00000377833.4	-	46	7236	c.7171G>C	c.(7171-7173)Gaa>Caa	p.E2391Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2391	CUB 17.				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)	AAGTCTTTTTCACAGCCAGAA	0.413000													18	39					0	0	0.006122	0	0
PTPN6	5777	broad.mit.edu	37	12	7069304	7069304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:7069304C>T	ENST00000456013.1	+	13	1725	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	PTPN6_ENST00000318974.9_Missense_Mutation_p.R495C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R497C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R456C|PTPN6_ENST00000539029.1_3'UTR	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	495	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCGGGCGCAGCGCTCGGGCAT	0.592000													10	42					0	0	0.008291	0	0
CABP4	57010	broad.mit.edu	37	11	67223246	67223246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:67223246C>T	ENST00000325656.5	+	1	429	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	118					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCTCAATCGAGTCTTCGG	0.662000													6	11					0	0	0.001168	0	0
EVC2	132884	broad.mit.edu	37	4	5586467	5586467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:5586467C>G	ENST00000310917.2	-	17	3431	c.2700G>C	c.(2698-2700)gaG>gaC	p.E900D	EVC2_ENST00000344408.5_Missense_Mutation_p.E980D|EVC2_ENST00000344938.1_Missense_Mutation_p.E980D	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	980						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCGACAGAGTCTCGGTCACCC	0.602000													22	34					0	0	0.001882	0	0
UBN1	29855	broad.mit.edu	37	16	4924969	4924969	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:4924969G>A	ENST00000396658.4	+	14	3261	c.2558G>A	c.(2557-2559)gGc>gAc	p.G853D	UBN1_ENST00000262376.6_Missense_Mutation_p.G853D|UBN1_ENST00000545171.1_Missense_Mutation_p.G853D|UBN1_ENST00000590769.1_Missense_Mutation_p.G853D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	853					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAGGCCAGGGCTTCCATCCC	0.592000													5	84					0	0	0.001984	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253855	32253855	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:32253855G>T	ENST00000332378.4	-	0	19					NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1							keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ATGTCAGACAGAGGGCTGCAG	0.517000													26	70					4.43304e-23	6.80581e-23	0.006320	1	0
RRP15	51018	broad.mit.edu	37	1	218504373	218504373	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:218504373C>A	ENST00000366932.3	+	5	819	c.789C>A	c.(787-789)gaC>gaA	p.D263E		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	263						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAGACTGGGACAAGGAAAGTG	0.408000													8	18					1.12685e-05	1.66062e-05	0.004482	1	0
IL36B	27177	broad.mit.edu	37	2	113780314	113780314	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113780314G>A	ENST00000259213.4	-	6	539	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	144					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CCTTCTTCCTGAGATGGTGAT	0.438000													30	53					0	0	0.002836	0	0
FMN2	56776	broad.mit.edu	37	1	240370980	240370980	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:240370980G>T	ENST00000319653.9	+	5	3098	c.2868G>T	c.(2866-2868)ccG>ccT	p.P956P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1099P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTTC	0.697000													21	19					2.27731e-05	3.33929e-05	0.001882	1	0
HOXA11	3207	broad.mit.edu	37	7	27222479	27222479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:27222479C>T	ENST00000006015.3	-	2	949	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	293					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTCCTTCATTCTCCTGTTCTG	0.453000			T	NUP98	CML								27	64					0	0	0.008361	0	0
SBF1	6305	broad.mit.edu	37	22	50906317	50906317	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:50906317C>G	ENST00000380817.2	-	3	360	c.177G>C	c.(175-177)gaG>gaC	p.E59D	SBF1_ENST00000390679.3_Missense_Mutation_p.E59D|SBF1_ENST00000348911.6_Missense_Mutation_p.E59D	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	59	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGATTCCTCTCGGGACACA	0.632000													20	34					0	0	0.008871	0	0
CDH24	64403	broad.mit.edu	37	14	23518917	23518917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23518917C>G	ENST00000397359.3	-	11	1889	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.D506H|CDH24_ENST00000267383.5_Missense_Mutation_p.D544H|CDH24_ENST00000554034.1_Missense_Mutation_p.D506H	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	544	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCAACTTCATCTCTGTCCAGG	0.582000													8	16					0	0	0.003080	0	0
COL16A1	1307	broad.mit.edu	37	1	32134424	32134424	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:32134424C>T	ENST00000373672.3	-	50	3744	c.3228G>A	c.(3226-3228)ctG>ctA	p.L1076L	COL16A1_ENST00000271069.6_Silent_p.L1076L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1076	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGTCTCCAGTCAGGCCCGTGA	0.617000													22	37					0	0	0.007291	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Missense_Mutation	SNP	C	C	G	rs104886404		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:107925060C>G	ENST00000328300.6	+	47	4402	c.4158C>G	c.(4156-4158)atC>atG	p.I1386M	COL4A5_ENST00000361603.2_Missense_Mutation_p.I1380M	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453000									Alport syndrome with Diffuse Leiomyomatosis				13	58					0	0	0.001368	0	0
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:200137185G>A	ENST00000443023.1	-	10	3239	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q651*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q651*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q533*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q651*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q651*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATCCAGCTGAGCCGAAAGA	0.542000													26	57					0	0	0.003330	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67815782	67815782	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:67815782C>G	ENST00000216442.7	-	4	829	c.279G>C	c.(277-279)aaG>aaC	p.K93N	ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.K38N|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.K93N	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	93					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TCGCTCGAATCTTCACTTGCG	0.368000													13	26					0	0	0.004990	0	0
OLIG3	167826	broad.mit.edu	37	6	137815023	137815023	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:137815023C>T	ENST00000367734.2	-	1	508	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGTCGTGCATCCGCTTGCGTT	0.607000													36	58					0	0	0.003755	0	0
BRCA1	672	broad.mit.edu	37	17	41246860	41246860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:41246860C>G	ENST00000357654.3	-	10	806	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	BRCA1_ENST00000468300.1_Missense_Mutation_p.E230Q|BRCA1_ENST00000346315.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E230Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E183Q|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E230Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	230					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACATCCGTCTCAGAAAATTCA	0.368000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	15					0	0	0.004482	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	59					0	0	0.001984	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:48615544G>A	ENST00000268933.3	+	3	1246	c.667G>A	c.(667-669)Gag>Aag	p.E223K	EPN3_ENST00000541226.1_Missense_Mutation_p.E167K|EPN3_ENST00000537145.1_Missense_Mutation_p.E278K|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667000													7	24					0	0	0.001984	0	0
BAMBI	25805	broad.mit.edu	37	10	28971090	28971090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:28971090G>C	ENST00000375533.3	+	3	1099	c.543G>C	c.(541-543)aaG>aaC	p.K181N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	181					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTGAAAATAAGAGGCTGCAGG	0.507000													18	46					0	0	0.004990	0	0
NPHS2	7827	broad.mit.edu	37	1	179533893	179533893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:179533893G>T	ENST00000367615.4	-	2	378	c.310C>A	c.(310-312)Ctt>Att	p.L104I	NPHS2_ENST00000367616.4_Missense_Mutation_p.L104I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	104					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGGACAAGAAGCCACTCACAG	0.398000													13	28					6.31663e-08	9.37923e-08	0.003163	1	0
WDR90	197335	broad.mit.edu	37	16	712044	712044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:712044G>A	ENST00000549091.1	+	32	4110	c.4018G>A	c.(4018-4020)Gat>Aat	p.D1340N	WDR90_ENST00000293879.4_Missense_Mutation_p.D1340N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1340										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGAGGCGGATGACGGTGG	0.652000													10	30					0	0	0.006214	0	0
KDELC1	79070	broad.mit.edu	37	13	103450951	103450951	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:103450951C>G	ENST00000376004.4	-	1	406	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	24						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCTGCCTTTCTCCGCCGGTC	0.532000													20	28					0	0	0.001882	0	0
TRIOBP	11078	broad.mit.edu	37	22	38168710	38168710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:38168710C>T	ENST00000406386.3	+	23	7294	c.7039C>T	c.(7039-7041)Cgt>Tgt	p.R2347C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R634C|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2347					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGAGCACCTGCGTCTTGCCAT	0.627000													7	141					0	0	0.004482	0	0
SEPT2	4735	broad.mit.edu	37	2	242282467	242282467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:242282467G>A	ENST00000391973.2	+	8	1183	c.655G>A	c.(655-657)Gat>Aat	p.D219N	SEPT2_ENST00000407971.1_Missense_Mutation_p.D179N|SEPT2_ENST00000391971.2_Missense_Mutation_p.D219N|SEPT2_ENST00000360051.3_Missense_Mutation_p.D219N|SEPT2_ENST00000401990.1_Missense_Mutation_p.D229N|SEPT2_ENST00000402092.2_Missense_Mutation_p.D219N	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	219					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGAATCAGATGAAGATGA	0.358000													45	107					0	0	0.002522	0	0
MATN2	4147	broad.mit.edu	37	8	98943558	98943558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:98943558C>T	ENST00000254898.5	+	3	751	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	MATN2_ENST00000520016.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000524308.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000521689.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000522025.2_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	174	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGAGACCTCAGGACTCCGT	0.577000													5	39					0	0	0.000602	0	0
TRMT13	54482	broad.mit.edu	37	1	100608709	100608709	+	Missense_Mutation	SNP	G	G	A	rs147022991		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:100608709G>A	ENST00000370141.2	+	8	692	c.686G>A	c.(685-687)aGa>aAa	p.R229K	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		GGAAAACACAGAAAGAAAAAT	0.274000													5	25					0	0	0.000602	0	0
POLQ	10721	broad.mit.edu	37	3	121158907	121158907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:121158907G>C	ENST00000264233.5	-	27	7449	c.7321C>G	c.(7321-7323)Cag>Gag	p.Q2441E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2441					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAATGGTCTGAACAAATCCG	0.323000								DNA polymerases (catalytic subunits)					16	43					0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94083611	94083611	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:94083611G>A	ENST00000553484.1	+	29	4405	c.4251G>A	c.(4249-4251)cgG>cgA	p.R1417R	UNC79_ENST00000555664.1_Silent_p.R1395R|UNC79_ENST00000393151.2_Silent_p.R1395R|UNC79_ENST00000256339.4_Silent_p.R1218R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCACATCCGGCAGATGTGGT	0.498000													8	92					0	0	0.004482	0	0
ERCC4	2072	broad.mit.edu	37	16	14015908	14015908	+	Silent	SNP	G	G	A	rs61760162		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:14015908G>A	ENST00000311895.7	+	2	237	c.228G>A	c.(226-228)ctG>ctA	p.L76L	ERCC4_ENST00000575156.1_Silent_p.L76L	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	76					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCAATCAGCTGAAGATAGAAG	0.353000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	17					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10442663	10442663	+	Silent	SNP	G	G	A	rs151000841	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:10442663G>A	ENST00000245503.5	-	14	1659	c.1275C>T	c.(1273-1275)aaC>aaT	p.N425N	MYH2_ENST00000397183.2_Silent_p.N425N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.N425N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	425	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCTACTGCGTTGGACACCT	0.468000													18	118					0	0	0.006122	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310335	57310335	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:57310335G>C	ENST00000457912.1	+	2	274	c.274G>C	c.(274-276)Gat>Cat	p.D92H	SMTNL1_ENST00000527972.1_Missense_Mutation_p.D74H|SMTNL1_ENST00000399154.2_Missense_Mutation_p.D74H			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	74										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAATGGATTAGATGAGGTCAA	0.542000													3	8					0	0	0.004672	0	0
KRT1	3848	broad.mit.edu	37	12	53071509	53071509	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:53071509C>A	ENST00000252244.3	-	4	946	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	296	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCACCTTGGTCATATAAGCAC	0.478000													25	60					7.92952e-12	1.20169e-11	0.003954	1	0
ATP1A4	480	broad.mit.edu	37	1	160156138	160156138	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160156138C>T	ENST00000368081.4	+	21	3513	c.3042C>T	c.(3040-3042)ctC>ctT	p.L1014L	ATP1A4_ENST00000470705.1_Silent_p.L150L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1014				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAACTCCTCATCCGTCAGC	0.562000													38	123					0	0	0.005524	0	0
GOLM1	51280	broad.mit.edu	37	9	88650534	88650534	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:88650534G>C	ENST00000388712.3	-	8	932	c.764C>G	c.(763-765)aCc>aGc	p.T255S	GOLM1_ENST00000388711.3_Missense_Mutation_p.T255S|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	255						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GATCTCATTGGTTTCCTCTGT	0.493000													4	286					0	0	0.000248	0	0
MTMR11	10903	broad.mit.edu	37	1	149905305	149905305	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905305G>T	ENST00000439741.2	-	10	1229	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.L255M|MTMR11_ENST00000406732.3_Missense_Mutation_p.L299M|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	327	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCACCAGGCAGGCAGAGGGCC	0.557000													38	103					8.73648e-17	1.3343e-16	0.004289	1	0
TRIO	7204	broad.mit.edu	37	5	14387879	14387879	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14387879C>T	ENST00000344204.4	+	23	3828	c.3804C>T	c.(3802-3804)atC>atT	p.I1268I	TRIO_ENST00000509967.2_Silent_p.I1219I|TRIO_ENST00000537187.1_Silent_p.I1268I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1268					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCCAGTATCCCTGGCTCAG	0.443000													4	53					0	0	0.000602	0	0
DET1	55070	broad.mit.edu	37	15	89070909	89070909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:89070909G>A	ENST00000564406.1	-	4	1385	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	DET1_ENST00000444300.1_Missense_Mutation_p.R409C|DET1_ENST00000268148.8_Missense_Mutation_p.R398C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	398						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTAGCATTACGAAAAAGGTCA	0.463000													10	36					0	0	0.000978	0	0
LOC440040	440040	broad.mit.edu	37	11	49805485	49805485	+	RNA	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:49805485G>C	ENST00000527477.1	+	0	1173																											GCAGAGCTTTGATAAGCTGCT	0.517000													9	23					0	0	0.000978	0	0
RALGAPB	57148	broad.mit.edu	37	20	37174953	37174953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:37174953G>C	ENST00000262879.6	+	19	3066	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E928Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E706Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E924Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	928					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTGTGAATGAGACCACTTT	0.438000													26	74					0	0	0.004656	0	0
KLHL41	10324	broad.mit.edu	37	2	170366343	170366343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:170366343C>T	ENST00000284669.1	+	1	132	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		ATCCACCCTTCTTCAGGATGG	0.468000													34	55					0	0	0.002096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242298	5242298	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:5242298G>A	ENST00000274181.7	+	17	2794	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	886	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGTGTCCTGCGGAGGGGGTAG	0.612000													20	46					0	0	0.008871	0	0
ZFP14	57677	broad.mit.edu	37	19	36853091	36853091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36853091C>T	ENST00000270001.7	-	3	174	c.59G>A	c.(58-60)tGg>tAg	p.W20*	ZFP14_ENST00000589280.1_Nonsense_Mutation_p.W20*	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAGGAATTCCCATTCTTCCTG	0.378000													5	49					0	0	0.001168	0	0
IFNA17	3451	broad.mit.edu	37	9	21227646	21227646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:21227646G>C	ENST00000413767.2	-	1	575	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAGAGATCT	0.373000													78	278					0	0	0.003610	0	0
XKRX	402415	broad.mit.edu	37	X	100169570	100169570	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:100169570G>C	ENST00000328526.5	-	3	1711	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.F369L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	369						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCACTCCAAAGAACTTAAAAA	0.428000													51	114					0	0	0.003610	0	0
GPR124	25960	broad.mit.edu	37	8	37696479	37696479	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:37696479G>C	ENST00000315215.7	+	12	1977	c.1614G>C	c.(1612-1614)ctG>ctC	p.L538L	GPR124_ENST00000412232.2_Silent_p.L755L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	755					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGGAGCTGAGCGCCTTTC	0.677000													14	57					0	0	0.003163	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68022580	68022580	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:68022580G>C	ENST00000329153.5	+	3	297	c.165G>C	c.(163-165)caG>caC	p.Q55H		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	55						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCAGAGCAGAGAGCAGAGA	0.607000													4	23					0	0	0.000602	0	0
ZNF638	27332	broad.mit.edu	37	2	71576307	71576307	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:71576307C>G	ENST00000409544.1	+	2	853	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	ZNF638_ENST00000264447.4_Missense_Mutation_p.Q75E|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q75E|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q75E	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	75					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAGGTAACTCAACACAGAAC	0.463000													3	95					0	0	0.004672	0	0
NECAB1	64168	broad.mit.edu	37	8	91940510	91940510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940510G>C	ENST00000417640.2	+	8	1013	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	226					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAATTAATTGATAGACTGGA	0.383000													29	51					0	0	0.002445	0	0
SP6	80320	broad.mit.edu	37	17	45924944	45924944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:45924944G>A	ENST00000536300.1	-	2	1183	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SP6_ENST00000342234.2_Silent_p.F284F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGTTGCACACGAAGGGACGGT	0.652000													14	35					0	0	0.004990	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794543	140794543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140794543G>A	ENST00000398610.2	+	1	1801	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_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|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACAGAGACTCCGGCCA	0.716000													38	108					0	0	0.004878	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:150660632C>T	ENST00000335230.3	-	9	1498	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507000													23	43					0	0	0.001882	0	0
C2orf16	84226	broad.mit.edu	37	2	27804899	27804899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:27804899G>C	ENST00000408964.2	+	1	5511	c.5460G>C	c.(5458-5460)agG>agC	p.R1820S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1820	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTGGAGAGGAGCCATCGCA	0.542000													38	93					0	0	0.003755	0	0
WDR7	23335	broad.mit.edu	37	18	54483274	54483274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:54483274C>G	ENST00000254442.3	+	20	3414	c.3203C>G	c.(3202-3204)tCa>tGa	p.S1068*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.S1035*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1068										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGTCACATCAGAAGCCGCG	0.418000													12	21					0	0	0.001368	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091803	30091803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:30091803C>T	ENST00000380752.5	-	10	1803	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	473					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGAACATCTCTGCCTCTGGT	0.453000													10	88					0	0	0.006214	0	0
EMR1	2015	broad.mit.edu	37	19	6916361	6916361	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6916361G>C	ENST00000312053.4	+	12	1439	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	EMR1_ENST00000381407.5_Missense_Mutation_p.E327Q|EMR1_ENST00000250572.8_Missense_Mutation_p.E468Q|EMR1_ENST00000450315.3_Missense_Mutation_p.E291Q|EMR1_ENST00000381404.4_Missense_Mutation_p.E416Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	468	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.438000													38	81					0	0	0.002222	0	0
DSCAM	1826	broad.mit.edu	37	21	41496216	41496216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:41496216G>A	ENST00000400454.1	-	20	4079	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1201	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATGGAGGCTGAGGCCGCCGC	0.592000													36	89					0	0	0.006230	0	0
P2RY10	27334	broad.mit.edu	37	X	78216842	78216842	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:78216842C>A	ENST00000171757.2	+	4	1105	c.825C>A	c.(823-825)agC>agA	p.S275R	P2RY10_ENST00000544091.1_Missense_Mutation_p.S275R	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	275						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCATTAGCAGTTGTCCCG	0.423000													80	161					3.37217e-29	5.19067e-29	0.003610	1	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			14	23					0	0	0.001855	0	0
MCM7	4176	broad.mit.edu	37	7	99693502	99693502	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:99693502G>C	ENST00000303887.5	-	11	2135	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	MCM7_ENST00000354230.3_Missense_Mutation_p.P321R|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	497	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTGCGGCGAGGGTTGTAGCG	0.622000													34	67					0	0	0.002836	0	0
MECOM	2122	broad.mit.edu	37	3	168833803	168833803	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:168833803G>A	ENST00000464456.1	-	7	2493	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	MECOM_ENST00000472280.1_Silent_p.F432F|MECOM_ENST00000433243.2_Silent_p.F432F|MECOM_ENST00000392736.3_Silent_p.F431F|MECOM_ENST00000264674.3_Silent_p.F496F|MECOM_ENST00000460814.1_Silent_p.F431F|MECOM_ENST00000468789.1_Silent_p.F431F|MECOM_ENST00000494292.1_Silent_p.F619F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTGTCTTTGAACATTTTAC	0.378000													20	45					0	0	0.007413	0	0
AKAP4	8852	broad.mit.edu	37	X	49958650	49958650	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49958650C>T	ENST00000376056.2	-	5	837	c.687G>A	c.(685-687)gaG>gaA	p.E229E	AKAP4_ENST00000358526.2_Silent_p.E238E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.E229E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	238	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCCAACTTCTCCTTGATTT	0.448000													30	90					0	0	0.008361	0	0
TG	7038	broad.mit.edu	37	8	133898883	133898883	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:133898883C>G	ENST00000220616.4	+	9	1306	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	TG_ENST00000377869.1_Silent_p.L422L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	422					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGGCTTCTCCGCCCAATGG	0.537000													8	228					0	0	0.003080	0	0
HERC5	51191	broad.mit.edu	37	4	89426907	89426907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:89426907G>A	ENST00000264350.3	+	23	3106	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	HERC5_ENST00000508159.1_Missense_Mutation_p.E623K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	985	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAGTTGGAATGAAAGAGACCC	0.338000													6	19					0	0	0.001168	0	0
PRPF8	10594	broad.mit.edu	37	17	1582626	1582626	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582626C>G	ENST00000572621.1	-	9	1633	c.1368G>C	c.(1366-1368)ctG>ctC	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542000													8	66					0	0	0.004482	0	0
DCK	1633	broad.mit.edu	37	4	71859630	71859630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:71859630C>G	ENST00000286648.5	+	1	475	c.78C>G	c.(76-78)atC>atG	p.I26M	MOB1B_ENST00000511449.1_Intron|DCK_ENST00000504730.1_Missense_Mutation_p.I26M|DCK_ENST00000504952.1_Missense_Mutation_p.I26M	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	26					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAATCTCCATCGAAGGGAACA	0.602000													7	15					0	0	0.003080	0	0
NEIL2	252969	broad.mit.edu	37	8	11637314	11637314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:11637314G>C	ENST00000284503.6	+	3	945	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.E55Q|NEIL2_ENST00000455213.2_Missense_Mutation_p.E116Q|NEIL2_ENST00000436750.3_Missense_Mutation_p.E116Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	116					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGATGATTCTGAGTATTTGGA	0.602000								Base excision repair (BER), DNA glycosylases					31	48					0	0	0.008361	0	0
TMEM37	140738	broad.mit.edu	37	2	120194890	120194890	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:120194890C>G	ENST00000306406.4	+	2	482	c.447C>G	c.(445-447)ctC>ctG	p.L149L	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.L161L	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	149						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGATCCTCCTCAGGAACCAAG	0.547000													80	214					0	0	0.003610	0	0
C16orf45	89927	broad.mit.edu	37	16	15661909	15661909	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:15661909C>T	ENST00000300006.4	+	3	659	c.300C>T	c.(298-300)atC>atT	p.I100I	C16orf45_ENST00000561692.1_Silent_p.I52I|C16orf45_ENST00000566490.1_Silent_p.I100I|C16orf45_ENST00000452191.2_Silent_p.I83I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	100										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TGGTCGCCATCCCAGGTAACC	0.552000													6	14					0	0	0.001168	0	0
NLRC5	84166	broad.mit.edu	37	16	57060491	57060491	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:57060491C>T	ENST00000436936.1	+	6	1861	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	NLRC5_ENST00000262510.6_Missense_Mutation_p.R546C|NLRC5_ENST00000539144.1_Missense_Mutation_p.R546C|NLRC5_ENST00000308149.7_Missense_Mutation_p.R546C			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCCATTCCCGCTGGGTACA	0.612000													74	84					0	0	0.003610	0	0
IPO11	51194	broad.mit.edu	37	5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	rs138490998		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:61747671C>T	ENST00000325324.6	+	5	596	c.427C>T	c.(427-429)Cga>Tga	p.R143*	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Nonsense_Mutation_p.R183*	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	143						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403000													20	55					0	0	0.001523	0	0
BIRC6	57448	broad.mit.edu	37	2	32667175	32667175	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:32667175G>A	ENST00000421745.2	+	18	4121	c.3987G>A	c.(3985-3987)gaG>gaA	p.E1329E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1329					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTTCATGAGAAGCTTGTTA	0.378000													16	59					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152282919	152282919	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282919T>C	ENST00000368799.1	-	3	4478	c.4443A>G	c.(4441-4443)gcA>gcG	p.A1481A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1481	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)			CGTCTTGGGATGCTGAGTGCC	0.567000									Ichthyosis				16	356					0	0	0.003610	0	0
KIRREL2	84063	broad.mit.edu	37	19	36352524	36352524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36352524C>T	ENST00000360202.5	+	10	1469	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	KIRREL2_ENST00000347900.6_Missense_Mutation_p.S374F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S404F|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S424F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S424F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	424	Ig-like C2-type 5.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTTTCGCCTCTCCCGCCCCA	0.642000													38	104					0	0	0.005524	0	0
BTBD8	284697	broad.mit.edu	37	1	92613302	92613302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:92613302G>C	ENST00000342818.3	+	9	1317	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	361						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TATACCTCCTGAGATTCAGAA	0.308000													15	20					0	0	0.003163	0	0
CHD4	1108	broad.mit.edu	37	12	6709458	6709458	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709458G>T	ENST00000309577.6	-	9	1330	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	CHD4_ENST00000544484.1_Silent_p.P386P|CHD4_ENST00000357008.2_Silent_p.P389P|CHD4_ENST00000544040.1_Silent_p.P382P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTAAGCACGGGGACAGGTAT	0.592000													15	99					1.15088e-07	1.70457e-07	0.004007	1	0
SYT9	143425	broad.mit.edu	37	11	7334938	7334938	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:7334938A>G	ENST00000318881.6	+	3	1047	c.810A>G	c.(808-810)acA>acG	p.T270T	SYT9_ENST00000396716.2_Silent_p.T238T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	270	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCGGAAAACAAAACACCAGA	0.423000													9	184					0	0	0.008291	0	0
TBR1	10716	broad.mit.edu	37	2	162273175	162273175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162273175C>T	ENST00000389554.3	+	1	571	c.254C>T	c.(253-255)cCt>cTt	p.P85L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	85						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AAACTCTCTCCTGTCTTGGAC	0.522000													11	142					0	0	0.008291	0	0
LOC220729	220729	broad.mit.edu	37	3	197349067	197349067	+	RNA	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:197349067G>A	ENST00000418868.1	-	0	510					NR_003266.2																						CCTCGACCATGGCAGTGGGGG	0.577000													9	27					0	0	0.000978	0	0
NOC2L	26155	broad.mit.edu	37	1	886571	886571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:886571C>A	ENST00000327044.6	-	12	1428	c.1379G>T	c.(1378-1380)cGt>cTt	p.R460L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	460						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGTCAGGGCACGGATGCAGTG	0.687000													3	6					0.004672	0.00670033	0.004672	1	0
PLEC	5339	broad.mit.edu	37	8	144990624	144990624	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144990624C>T	ENST00000322810.4	-	32	13945	c.13776G>A	c.(13774-13776)gtG>gtA	p.V4592V	PLEC_ENST00000354958.2_Silent_p.V4433V|PLEC_ENST00000356346.3_Silent_p.V4441V|PLEC_ENST00000436759.2_Silent_p.V4482V|PLEC_ENST00000357649.2_Silent_p.V4459V|PLEC_ENST00000527096.1_Silent_p.V4478V|PLEC_ENST00000398774.2_Silent_p.V4423V|PLEC_ENST00000345136.3_Silent_p.V4455V|PLEC_ENST00000354589.3_Silent_p.V4455V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4592	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCCTCCTCCACCATGCTGC	0.647000													5	148					0	0	0.001168	0	0
TSIX	9383	broad.mit.edu	37	X	73044438	73044438	+	RNA	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:73044438G>C	ENST00000604411.1	+	0	32399				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TATACAATGAGAATTTTGTAG	0.294000													9	16					0	0	0.006214	0	0
MTHFR	4524	broad.mit.edu	37	1	11851316	11851316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:11851316C>T	ENST00000376592.1	-	10	1828	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	MTHFR_ENST00000376583.3_Missense_Mutation_p.R608Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R608Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R567Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	567					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGATCTCTCGCCCAGGGAA	0.602000													18	30					0	0	0.007413	0	0
RYR1	6261	broad.mit.edu	37	19	39017636	39017636	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39017636G>C	ENST00000355481.4	+	71	10746	c.10615G>C	c.(10615-10617)Gac>Cac	p.D3539H	RYR1_ENST00000360985.3_Missense_Mutation_p.D3544H|RYR1_ENST00000359596.3_Missense_Mutation_p.D3544H|AC067969.1_ENST00000597015.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3544			R -> H (in CCD; autosomal recessive form).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCCAGAAAGACACAGATGA	0.542000													10	43					0	0	0.006214	0	0
SMC2	10592	broad.mit.edu	37	9	106864358	106864358	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:106864358G>C	ENST00000286398.7	+	8	1042	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	SMC2_ENST00000374793.3_Missense_Mutation_p.E252Q|SMC2_ENST00000374787.3_Missense_Mutation_p.E252Q|SMC2_ENST00000303219.8_Missense_Mutation_p.E252Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	252					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTCAGCTGAGGAATTAAAAGA	0.313000													16	117					0	0	0.004007	0	0
MST1R	4486	broad.mit.edu	37	3	49932708	49932708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:49932708C>T	ENST00000296474.3	-	14	3190	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	MST1R_ENST00000344206.4_Missense_Mutation_p.E1006K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1055					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGATGGACTCTTTCCGCAGC	0.552000													59	84					0	0	0.003610	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154523963	154523963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:154523963C>G	ENST00000292211.4	-	11	1159	c.1080G>C	c.(1078-1080)tgG>tgC	p.W360C		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	360							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCACTGCTCCAGCCCTGGG	0.537000													42	65					0	0	0.007835	0	0
WASF1	8936	broad.mit.edu	37	6	110423089	110423089	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:110423089C>T	ENST00000392589.1	-	10	2060	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	WASF1_ENST00000359451.2_Silent_p.E408E|WASF1_ENST00000392587.2_Silent_p.E408E|WASF1_ENST00000392588.1_Silent_p.E408E|WASF1_ENST00000392586.1_Silent_p.E408E	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	408					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTGGTACAGTCTCACATACTG	0.577000													13	44					0	0	0.001855	0	0
DIDO1	11083	broad.mit.edu	37	20	61527745	61527745	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:61527745C>G	ENST00000266070.4	-	8	2380		c.e8-1		DIDO1_ENST00000395340.1_Splice_Site|DIDO1_ENST00000395335.2_Splice_Site|DIDO1_ENST00000395343.1_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCATTGACTCTGAACAGAAT	0.363000													11	33					0	0	0.008291	0	0
PROKR1	10887	broad.mit.edu	37	2	68882429	68882429	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:68882429C>T	ENST00000303786.3	+	3	1323	c.903C>T	c.(901-903)taC>taT	p.Y301Y	PROKR1_ENST00000394342.2_Silent_p.Y301Y			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGCCCTTCTACGGCTTCACCA	0.587000													18	45					0	0	0.007413	0	0
STAB2	55576	broad.mit.edu	37	12	104063327	104063327	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104063327G>A	ENST00000388887.2	+	21	2385	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	727					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGATTCCAAAGTGCTGCAAAG	0.438000													4	79					0	0	0.000248	0	0
TPRA1	131601	broad.mit.edu	37	3	127294643	127294643	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:127294643G>A	ENST00000355552.3	-	8	995	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TPRA1_ENST00000450633.2_Silent_p.L207L|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000489960.1_Silent_p.L207L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	207					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATGACCACCAGAGAGTAGACC	0.642000													15	52					0	0	0.002450	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057496	46057496	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:46057496G>A	ENST00000380095.1	+	1	224	c.162G>A	c.(160-162)caG>caA	p.Q54Q	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	54	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGCCAGACGGCCTGTG	0.657000													32	70					0	0	0.002836	0	0
SLC4A4	8671	broad.mit.edu	37	4	72423435	72423435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:72423435G>T	ENST00000340595.3	+	19	2834	c.2638G>T	c.(2638-2640)Gat>Tat	p.D880Y	SLC4A4_ENST00000351898.6_Missense_Mutation_p.D840Y|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D924Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D924Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	924						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGTTCATGGATCGTCTGAA	0.443000													5	49					3.59834e-05	5.26324e-05	0.001168	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122525	18122525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122525G>A	ENST00000340650.3	-	1	326	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	105					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGCGGCGCGATGGGCGGCC	0.726000													5	15					0	0	0.000602	0	0
DIAPH2	1730	broad.mit.edu	37	X	96204003	96204003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:96204003G>A	ENST00000324765.8	+	15	1926	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	DIAPH2_ENST00000373049.4_Missense_Mutation_p.E527K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E527K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E527K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E523K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	527					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAATCAAAGAACTTGAAGC	0.373000													11	30					0	0	0.000978	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514571	58514571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:58514571G>C	ENST00000370996.3	-	1	781	c.416C>G	c.(415-417)tCg>tGg	p.S139W	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	139					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.S139*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCACAGGTCCGAGTTGATTGC	0.682000													13	29					0	0	0.002450	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890608	23890608	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:23890608G>T	ENST00000532292.1	-	1	567	c.473C>A	c.(472-474)gCa>gAa	p.A158E		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGCTGACACTGCCTTGGGAGC	0.612000													4	40					0.00024832	0.000360524	0.000248	1	0
ZNF836	162962	broad.mit.edu	37	19	52659522	52659522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:52659522A>G	ENST00000322146.8	-	5	1935	c.1414T>C	c.(1414-1416)Tgc>Cgc	p.C472R	ZNF836_ENST00000597252.1_Missense_Mutation_p.C472R|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTCATTGCATTTGTAAGGT	0.418000													11	131					0	0	0.008291	0	0
CIC	23152	broad.mit.edu	37	19	42794752	42794752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42794752C>T	ENST00000572681.2	+	11	4627	c.4559C>T	c.(4558-4560)cCa>cTa	p.P1520L	CIC_ENST00000160740.3_Missense_Mutation_p.P611L|CIC_ENST00000575354.2_Missense_Mutation_p.P611L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCTGGAGCCACCAGGCCCC	0.657000			"""Mis, F, S"""		oligodendroglioma								8	103					0	0	0.004482	0	0
MCFD2	90411	broad.mit.edu	37	2	47136232	47136232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:47136232C>T	ENST00000409105.1	-	3	258	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409973.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.E27K|MCFD2_ENST00000493804.1_Intron	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	27					post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	GCAGGCTCCTCAGCCCTGGCG	0.592000													13	40					0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90050870	90050870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:90050870G>C	ENST00000405460.2	+	55	11544	c.11448G>C	c.(11446-11448)ttG>ttC	p.L3816F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3816					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)		CCATTCACTTGAGAGCTCAAC	0.358000													29	69					0	0	0.001786	0	0
ERAP2	64167	broad.mit.edu	37	5	96248384	96248384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:96248384C>T	ENST00000437043.3	+	16	3109	c.2398C>T	c.(2398-2400)Cag>Tag	p.Q800*	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q755*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	800					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGTGGGTGCTCAGACAACAGC	0.328000													16	42					0	0	0.004007	0	0
LSR	51599	broad.mit.edu	37	19	35739867	35739867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:35739867C>G	ENST00000602122.1	+	1	573	c.86C>G	c.(85-87)cCg>cGg	p.P29R	LSR_ENST00000360798.3_Missense_Mutation_p.P29R|LSR_ENST00000347609.4_Missense_Mutation_p.P29R|LSR_ENST00000597933.1_Intron|LSR_ENST00000354900.3_Missense_Mutation_p.P29R|LSR_ENST00000361790.3_Missense_Mutation_p.P29R			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	29					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGTGCGCGCCGCGCCCCCTA	0.662000													4	27					0	0	0.000248	0	0
RGS22	26166	broad.mit.edu	37	8	101016160	101016160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:101016160G>A	ENST00000360863.6	-	17	2815	c.2621C>T	c.(2620-2622)tCt>tTt	p.S874F	RGS22_ENST00000523437.1_Missense_Mutation_p.S862F|RGS22_ENST00000523287.1_Missense_Mutation_p.S693F|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	874	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCACCTTGAAGAATGAGTCTC	0.328000													14	29					0	0	0.002450	0	0
IMPG1	3617	broad.mit.edu	37	6	76660391	76660391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:76660391C>T	ENST00000369950.3	-	13	1901	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	571	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACCAGCTCTCGGCCCTTGGG	0.488000													8	56					0	0	0.006214	0	0
ATP8A1	10396	broad.mit.edu	37	4	42571206	42571206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:42571206C>G	ENST00000381668.5	-	15	1543	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	ATP8A1_ENST00000264449.10_Intron	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	438					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCATAATCCTCAGGTTCAGGG	0.408000													14	41					0	0	0.003163	0	0
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313000													42	75					0	0	0.006999	0	0
ZNF335	63925	broad.mit.edu	37	20	44578159	44578159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:44578159C>T	ENST00000322927.2	-	25	3818	c.3718G>A	c.(3718-3720)Gaa>Aaa	p.E1240K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1085K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1240	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACAACATATTCCTGGGGGAGC	0.617000													10	26					0	0	0.008291	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460077	107460077	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:107460077T>G	ENST00000409382.3	-	2	967	c.357A>C	c.(355-357)aaA>aaC	p.K119N	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.K119N|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.K119N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	119					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACTTTGAGATTTTCTCCCCA	0.532000													13	130					0	0	0.001855	0	0
COG4	25839	broad.mit.edu	37	16	70515274	70515274	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:70515274G>C	ENST00000323786.5	-	18	2244	c.2223C>G	c.(2221-2223)ctC>ctG	p.L741L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	737	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592000													6	166					0	0	0.001168	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401042	139401042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:139401042C>G	ENST00000277541.6	-	24	4026	c.3951G>C	c.(3949-3951)aaG>aaC	p.K1317N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1317	EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCATTCTTGCAGGGCT	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	17					0	0	0.004672	0	0
CCDC30	728621	broad.mit.edu	37	1	43047055	43047055	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:43047055G>C	ENST00000428554.2	+	15	2233	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	CCDC30_ENST00000340612.4_Missense_Mutation_p.E364Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.E153Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.E153Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.E364Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCGGAAATTAGAACATGCTCA	0.338000													17	71					0	0	0.004007	0	0
RNF13	11342	broad.mit.edu	37	3	149589832	149589832	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:149589832C>G	ENST00000344229.3	+	5	914	c.212C>G	c.(211-213)tCa>tGa	p.S71*	RNF13_ENST00000392894.3_Nonsense_Mutation_p.S71*	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	71	PA.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATTAACTCAAAACCAGAG	0.328000													6	33					0	0	0.001168	0	0
CAND1	55832	broad.mit.edu	37	12	67706416	67706416	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:67706416G>C	ENST00000545606.1	+	15	3936	c.3499G>C	c.(3499-3501)Gaa>Caa	p.E1167Q		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1167					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCAGGAGTTTGAAAAACAAGA	0.393000													9	18					0	0	0.006214	0	0
ALMS1	7840	broad.mit.edu	37	2	73676052	73676052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:73676052A>G	ENST00000264448.6	+	8	2506	c.2395A>G	c.(2395-2397)Aag>Gag	p.K799E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K757E|ALMS1_ENST00000377715.1_Missense_Mutation_p.K799E	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	799	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTGACCAGAAGACTGGCCT	0.488000													54	119					0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135015189	135015189	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015189C>T	ENST00000304613.3	+	17	3195	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G	KNDC1_ENST00000368571.2_Silent_p.G993G|KNDC1_ENST00000368572.2_Silent_p.G1060G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1058					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCAGCTGGCGGGGCCTCAG	0.682000													11	34					0	0	0.008291	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74372982	74372982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:74372982G>C	ENST00000290438.3	-	2	219	c.179C>G	c.(178-180)tCc>tGc	p.S60C		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	60										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCAACCACCGGAAGTGGTTGT	0.527000													18	136					0	0	0.007413	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				29	65					0	0	0.003271	0	0
GBGT1	26301	broad.mit.edu	37	9	136031310	136031310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:136031310G>A	ENST00000372040.3	-	5	513	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	GBGT1_ENST00000372038.3_Missense_Mutation_p.S80L|GBGT1_ENST00000540636.1_Nonsense_Mutation_p.Q51*|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Nonsense_Mutation_p.Q68*|RALGDS_ENST00000542690.1_Missense_Mutation_p.S80L					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGCTTGGGCTGAGGGTACTGT	0.557000													53	61					0	0	0.003610	0	0
RPN1	6184	broad.mit.edu	37	3	128348837	128348837	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:128348837G>C	ENST00000296255.3	-	5	1041	c.993C>G	c.(991-993)atC>atG	p.I331M	RPN1_ENST00000497289.1_Missense_Mutation_p.I159M	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	331					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGTAGCCAACGATGTAATGGG	0.433000			T	EVI1	AML								11	30					0	0	0.008291	0	0
KIF24	347240	broad.mit.edu	37	9	34256601	34256601	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34256601C>T	ENST00000379166.2	-	11	3123	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	KIF24_ENST00000402558.2_Missense_Mutation_p.D1002N|KIF24_ENST00000345050.2_Missense_Mutation_p.D868N|KIF24_ENST00000379174.3_Missense_Mutation_p.D868N	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1002					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTGACTGTGTCTCTTTGGTCT	0.537000													56	81					0	0	0.003610	0	0
THRSP	7069	broad.mit.edu	37	11	77775068	77775068	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:77775068C>G	ENST00000281030.2	+	1	162	c.141C>G	c.(139-141)ggC>ggG	p.G47G	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	47					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GGCCTGGGGGCCAGGCCCAGG	0.637000													19	105					0	0	0.008871	0	0
SERPINE3	647174	broad.mit.edu	37	13	51922447	51922447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:51922447G>C	ENST00000524365.1	+	7	1424	c.799G>C	c.(799-801)Gac>Cac	p.D267H	SERPINE3_ENST00000400389.4_Missense_Mutation_p.D267H|SERPINE3_ENST00000521255.1_Missense_Mutation_p.D267H			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	267					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCGTGACAAAGACACCCCCCT	0.612000													16	22					0	0	0.004007	0	0
GPR115	221393	broad.mit.edu	37	6	47680160	47680160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:47680160G>A	ENST00000283303.2	+	5	626	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	GPR115_ENST00000371220.1_Missense_Mutation_p.R180Q|GPR115_ENST00000327753.3_Missense_Mutation_p.R123Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTAGACTTTCGAGCTCCAGAG	0.418000													30	74					0	0	0.002096	0	0
NCK1	4690	broad.mit.edu	37	3	136667114	136667114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:136667114C>G	ENST00000469404.1	+	3	852	c.761C>G	c.(760-762)tCa>tGa	p.S254*	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Nonsense_Mutation_p.S318*|NCK1_ENST00000481752.1_Nonsense_Mutation_p.S318*	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	318					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATGATTTCTCAGTATCACTA	0.313000													3	40					0	0	0.000248	0	0
DCC	1630	broad.mit.edu	37	18	50278591	50278591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:50278591G>A	ENST00000442544.2	+	2	875	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	87	Ig-like C2-type 1.				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)		GGGAATGGATGAAAGGAAGCA	0.498000													25	58					0	0	0.003330	0	0
XPR1	9213	broad.mit.edu	37	1	180601389	180601389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180601389C>G	ENST00000367590.4	+	1	250	c.52C>G	c.(52-54)Caa>Gaa	p.Q18E	XPR1_ENST00000367589.3_Missense_Mutation_p.Q18E	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	18	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGGAGGAAGCAATACATCCA	0.647000													5	4					0	0	0.001168	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887369	155887369	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:155887369G>C	ENST00000368320.3	-	11	1386	c.1361C>G	c.(1360-1362)cCa>cGa	p.P454R	KIAA0907_ENST00000368321.3_Missense_Mutation_p.P454R			Q7Z7F0	K0907_HUMAN	KIAA0907	454	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGCTGACTTGGGAGTGgggg	0.562000													25	41					0	0	0.003954	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764970	109764970	+	RNA	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:109764970A>G	ENST00000602699.1	+	0	1431					NR_002718.2																						ATATTATGCAAATTTCATGAC	0.343000													11	22					0	0	0.000978	0	0
CACNA1F	778	broad.mit.edu	37	X	49067781	49067781	+	Splice_Site	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49067781C>A	ENST00000376265.2	-	36	4355		c.e36+1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGGTTCTCACCAGGAAGGCA	0.552000													9	31					0.000442599	0.000639431	0.006214	1	0
RAET1E	135250	broad.mit.edu	37	6	150210686	150210686	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210686G>A	ENST00000532335.1	-	4	766	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RAET1E_ENST00000367363.3_Silent_p.F104F|RAET1E_ENST00000529948.1_Silent_p.F140F|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000357183.4_Silent_p.F140F|RP11-244K5.8_ENST00000606915.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	140	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTGGTGGCGAACTGCCAGG	0.468000													5	75					0	0	0.000602	0	0
RPUSD3	285367	broad.mit.edu	37	3	9879867	9879867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:9879867G>A	ENST00000383820.5	-	9	890	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	RPUSD3_ENST00000424438.1_3'UTR|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R282C	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	297					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGGTGGAGGCGTCTGAGGAGG	0.622000													7	40					0	0	0.001984	0	0
INO80D	54891	broad.mit.edu	37	2	206869474	206869474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:206869474G>C	ENST00000403263.1	-	11	3106	c.2702C>G	c.(2701-2703)tCt>tGt	p.S901C		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	633					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S796C(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCTAAATGGAGAGGGGTCTCC	0.567000													20	39					0	0	0.008871	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091369	11091369	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:11091369T>C	ENST00000537503.1	-	1	493	c.438A>G	c.(436-438)gcA>gcG	p.A146A	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	146					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGTTTATCAGTGCAATATTTA	0.343000													16	37					0	0	0.004990	0	0
AP4B1	10717	broad.mit.edu	37	1	114442970	114442970	+	Missense_Mutation	SNP	G	G	A	rs138216814		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:114442970G>A	ENST00000369569.1	-	5	950	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R131C|AP4B1_ENST00000369567.1_Missense_Mutation_p.R56C|AP4B1_ENST00000256658.4_Missense_Mutation_p.R224C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	224					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTGGTAGCGTAGCAGAAAG	0.428000													14	39					0	0	0.002450	0	0
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	EPS8L2_ENST00000530636.1_Silent_p.Q274Q|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.Q274Q|EPS8L2_ENST00000526198.1_Silent_p.Q290Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274						cytoplasm		p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647000													29	54					0	0	0.008361	0	0
BMP2K	55589	broad.mit.edu	37	4	79780824	79780824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79780824C>G	ENST00000335016.5	+	8	1136	c.970C>G	c.(970-972)Cca>Gca	p.P324A	BMP2K_ENST00000502871.1_Missense_Mutation_p.P324A	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	324						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAGGATTGTCCAGTCTCCAA	0.303000													10	34					0	0	0.008291	0	0
OSBP	5007	broad.mit.edu	37	11	59377944	59377944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:59377944G>A	ENST00000263847.1	-	2	960	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	161	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTAGCTTTCAGATGGTAGGTC	0.557000													28	75					0	0	0.004656	0	0
FRAS1	80144	broad.mit.edu	37	4	79387417	79387417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79387417G>A	ENST00000264895.6	+	50	7525	c.7085G>A	c.(7084-7086)cGa>cAa	p.R2362Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2361					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCATCGAGCGAACCAGCAAT	0.557000													19	63					0	0	0.001882	0	0
CNNM3	26505	broad.mit.edu	37	2	97483071	97483071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:97483071G>C	ENST00000305510.3	+	1	1085	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	CNNM3_ENST00000377060.3_Missense_Mutation_p.E353Q	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	353	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCCGGTGTACGAGGAGGAGCG	0.617000													21	43					0	0	0.001523	0	0
CLINT1	9685	broad.mit.edu	37	5	157218825	157218825	+	Silent	SNP	G	G	A	rs150043675	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:157218825G>A	ENST00000523094.1	-	10	1417	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	CLINT1_ENST00000296951.5_Silent_p.D404D|CLINT1_ENST00000530742.1_Silent_p.D404D|CLINT1_ENST00000523908.1_Silent_p.D422D|CLINT1_ENST00000411809.2_Silent_p.D422D	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	422					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAAACAGGTCTGAAGAAT	0.502000													8	92					0	0	0.003080	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308639	117308639	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:117308639C>G	ENST00000321322.6	-	25	4585	c.4584G>C	c.(4582-4584)gaG>gaC	p.E1528D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1258D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1468	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGATGATCTCGCTGATGC	0.662000													3	27					0	0	0.004672	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984001	41984001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:41984001G>C	ENST00000333141.5	+	1	289	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	64										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTCGGAGCTTGGATCCCTCCT	0.532000													3	62					0	0	0.004672	0	0
COL25A1	84570	broad.mit.edu	37	4	110222950	110222950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:110222950G>A	ENST00000399132.1	-	2	756	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	COL25A1_ENST00000399127.1_Missense_Mutation_p.H76Y|COL25A1_ENST00000399126.1_Missense_Mutation_p.H76Y	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	76						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCAGCAGATGAATGGAAGGG	0.572000													44	96					0	0	0.002522	0	0
NECAB1	64168	broad.mit.edu	37	8	91940500	91940500	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940500G>A	ENST00000417640.2	+	8	1003	c.666G>A	c.(664-666)caG>caA	p.Q222Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	222					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATAGACTCCAGAAATTAATTG	0.383000													32	52					0	0	0.004289	0	0
OR2T11	127077	broad.mit.edu	37	1	248789544	248789544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248789544C>T	ENST00000330803.2	-	1	947	c.886G>A	c.(886-888)Ggg>Agg	p.G296R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTAAATGCCCCTATGACGTCC	0.473000													24	58					0	0	0.003954	0	0
SMAP1	60682	broad.mit.edu	37	6	71442124	71442124	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:71442124C>T	ENST00000370455.3	+	2	410	c.162C>T	c.(160-162)atC>atT	p.I54I	SMAP1_ENST00000316999.5_Silent_p.I54I|SMAP1_ENST00000422334.2_Silent_p.I54I|SMAP1_ENST00000370452.3_Silent_p.I54I	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	54	Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TTATTTGCATCAGATGTGCTG	0.363000													12	54					0	0	0.003163	0	0
KIF3C	3797	broad.mit.edu	37	2	26204430	26204430	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:26204430G>C	ENST00000264712.3	-	1	936	c.357C>G	c.(355-357)gtC>gtG	p.V119V	KIF3C_ENST00000405914.1_Silent_p.V119V	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	119	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCGGGATGACCCCGCGCA	0.587000													23	65					0	0	0.003330	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122513	18122513	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122513T>A	ENST00000340650.3	-	1	338	c.325A>T	c.(325-327)Agc>Tgc	p.S109C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	109					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCGGGGGCGCTGGGGGCGGCG	0.731000													7	20					0	0	0.001984	0	0
HELZ	9931	broad.mit.edu	37	17	65105306	65105306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:65105306C>T	ENST00000358691.5	-	29	4581	c.4415G>A	c.(4414-4416)gGc>gAc	p.G1472D	HELZ_ENST00000580168.1_Missense_Mutation_p.G1473D	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGAATGGGGCCGGGTTGTGC	0.532000													5	69					0	0	0.000602	0	0
SRFBP1	153443	broad.mit.edu	37	5	121309963	121309963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:121309963C>T	ENST00000339397.4	+	2	181	c.109C>T	c.(109-111)Cga>Tga	p.R37*		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GAGTGTTGGCCGACTGAAGTC	0.313000													8	16					0	0	0.004482	0	0
PRRG2	5639	broad.mit.edu	37	19	50087180	50087180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:50087180G>T	ENST00000246794.5	+	4	441	c.272G>T	c.(271-273)tGg>tTg	p.W91L	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	91	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GAGCGCTTTTGGGAGAGCTAC	0.527000													6	82					0.00198382	0.00285903	0.001984	1	0
ZSWIM5	57643	broad.mit.edu	37	1	45485782	45485782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:45485782C>T	ENST00000359600.5	-	13	2856	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	884							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)					CATCTCCCTGCGTCTCCAGTT	0.552000													9	25					0	0	0.008291	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43861099	43861099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:43861099C>T	ENST00000377564.3	+	13	2366	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	658	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GTGTCCTTCGCGTACGCAGCG	0.771000													5	17					0	0	0.000602	0	0
GARNL3	84253	broad.mit.edu	37	9	130116626	130116626	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:130116626G>C	ENST00000373387.4	+	19	2048	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	GARNL3_ENST00000435213.2_Missense_Mutation_p.E544Q|GARNL3_ENST00000314904.5_Missense_Mutation_p.E566Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	566	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAAGGGCCTTGAGGGGAAGCA	0.443000													25	43					0	0	0.003954	0	0
FAT1	2195	broad.mit.edu	37	4	187525110	187525110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525110G>A	ENST00000441802.2	-	19	10779	c.10570C>T	c.(10570-10572)Cag>Tag	p.Q3524*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3524	Cadherin 32.				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						GATGACAACTGAGGCTTTCCA	0.378000										HNSCC(5;0.00058)			10	25					0	0	0.006214	0	0
CCDC110	256309	broad.mit.edu	37	4	186380966	186380966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380966C>T	ENST00000307588.3	-	6	850	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	CCDC110_ENST00000510617.1_Missense_Mutation_p.E259K|CCDC110_ENST00000393540.3_Missense_Mutation_p.E222K	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	259						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGCCACTTCCCCATCATGT	0.363000													6	114					0	0	0.001168	0	0
IARS	3376	broad.mit.edu	37	9	95036734	95036734	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:95036734C>G	ENST00000375643.3	-	10	1230	c.964G>C	c.(964-966)Gtc>Ctc	p.V322L	IARS_ENST00000447699.2_Missense_Mutation_p.V212L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.V322L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	322					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GCTTGGTGGACAACCCCTGTG	0.473000													3	129					0	0	0.004672	0	0
GDPD5	81544	broad.mit.edu	37	11	75148046	75148046	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75148046A>G	ENST00000526177.1	-	12	3068	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	GDPD5_ENST00000336898.3_Missense_Mutation_p.L535P|GDPD5_ENST00000533805.1_Missense_Mutation_p.L290P|GDPD5_ENST00000376282.3_Missense_Mutation_p.L416P|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.L535P|GDPD5_ENST00000533784.1_Missense_Mutation_p.L416P			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	535	GDPD.			QRP -> GS (in Ref. 6; AAP97686).	glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CGCAGCACTCAGCATGATCTG	0.622000													13	33					0	0	0.004007	0	0
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:53612343G>A	ENST00000455735.2	-	7	1419	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Q319*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Q319*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Q89*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q367*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Q306*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q331*			Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418000													21	44					0	0	0.001882	0	0
AZIN1	51582	broad.mit.edu	37	8	103848575	103848575	+	Missense_Mutation	SNP	C	C	T	rs142265787		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:103848575C>T	ENST00000337198.5	-	6	1656	c.493G>A	c.(493-495)Gag>Aag	p.E165K	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Missense_Mutation_p.E165K	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	165					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			ATGTTACCCTCTTCACCTCCA	0.413000													31	69					0	0	0.008361	0	0
RAB37	326624	broad.mit.edu	37	17	72741479	72741479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72741479G>A	ENST00000392614.4	+	9	709	c.616G>A	c.(616-618)Gag>Aag	p.E206K	RAB37_ENST00000392613.5_Missense_Mutation_p.E201K|RAB37_ENST00000402449.4_Missense_Mutation_p.E194K|RAB37_ENST00000528438.1_Missense_Mutation_p.E174K|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392615.5_Missense_Mutation_p.E169K|RAB37_ENST00000392612.3_Missense_Mutation_p.E164K	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCAGGCGGATGAGCCCAGCTT	0.622000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	49					0	0	0.008361	0	0
BRWD3	254065	broad.mit.edu	37	X	79975138	79975138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:79975138C>T	ENST00000373275.4	-	18	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	632										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTACCTGTTCTACTACCTCA	0.358000													30	86					0	0	0.008361	0	0
TEKT4	150483	broad.mit.edu	37	2	95539303	95539303	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:95539303G>C	ENST00000295201.4	+	2	674	c.537G>C	c.(535-537)aaG>aaC	p.K179N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	179					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTGCTGAAGAGAACCATCA	0.612000													9	36					0	0	0.006214	0	0
SERPINH1	871	broad.mit.edu	37	11	75277820	75277820	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75277820C>T	ENST00000524558.1	+	2	1861	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SERPINH1_ENST00000533603.1_Silent_p.F142F|SERPINH1_ENST00000358171.3_Silent_p.F142F|SERPINH1_ENST00000530284.1_Silent_p.F142F			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	142					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CAGTGAGCTTCGCTGATGACT	0.627000													8	38					0	0	0.003080	0	0
SAGE1	55511	broad.mit.edu	37	X	134989482	134989482	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134989482C>T	ENST00000535938.1	+	9	1055	c.888C>T	c.(886-888)gtC>gtT	p.V296V	SAGE1_ENST00000324447.3_Silent_p.V296V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.V296V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	296										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACCGTCCCTCACAATG	0.418000													5	82					0	0	0.001168	0	0
CUL1	8454	broad.mit.edu	37	7	148427271	148427271	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148427271G>A	ENST00000325222.4	+	2	336	c.57G>A	c.(55-57)caG>caA	p.Q19Q	CUL1_ENST00000602748.1_Silent_p.Q19Q|CUL1_ENST00000409469.1_Silent_p.Q19Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCTGGACCAGATCTGGGACG	0.562000													23	59					0	0	0.002299	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434273	85434273	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:85434273A>G	ENST00000393217.2	+	3	199	c.138A>G	c.(136-138)tcA>tcG	p.S46S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	46										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTAGGATTCAGTTGAATTAC	0.328000													22	53					0	0	0.001882	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257734	208257734	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:208257734C>T	ENST00000367033.3	-	10	3046	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	763					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGAGCTGTTCTGACACTGAA	0.627000													19	42					0	0	0.008871	0	0
RAET1E	135250	broad.mit.edu	37	6	150210518	150210518	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210518G>A	ENST00000532335.1	-	4	934	c.588C>T	c.(586-588)ttC>ttT	p.F196F	RAET1E_ENST00000367363.3_Silent_p.F160F|RAET1E_ENST00000529948.1_Silent_p.F196F|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000357183.4_Silent_p.F196F|RP11-244K5.8_ENST00000606915.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	196	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGTGCCCTAAGAATTCCCTGA	0.512000													5	66					0	0	0.001984	0	0
CLHC1	130162	broad.mit.edu	37	2	55403114	55403114	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:55403114C>G	ENST00000401408.1	-	13	1918	c.1573G>C	c.(1573-1575)Gaa>Caa	p.E525Q	CLHC1_ENST00000407122.1_Missense_Mutation_p.E525Q|CLHC1_ENST00000406437.2_Missense_Mutation_p.E76Q|CLHC1_ENST00000406076.1_Missense_Mutation_p.E403Q|CLHC1_ENST00000494539.1_5'UTR	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		ATAAGACTTTCTACTGCATCT	0.299000													9	27					0	0	0.006214	0	0
WAPAL	23063	broad.mit.edu	37	10	88277758	88277758	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:88277758G>C	ENST00000298767.5	-	2	541	c.69C>G	c.(67-69)gtC>gtG	p.V23V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	23	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTGGAAAAGACTTCATCGA	0.398000													4	49					0	0	0.000248	0	0
COPA	1314	broad.mit.edu	37	1	160275281	160275281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160275281C>T	ENST00000241704.7	-	17	1838	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	COPA_ENST00000368069.3_Missense_Mutation_p.E546K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	537					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCCACTCTCATCCCAGGCC	0.438000													7	124					0	0	0.001984	0	0
HEATR5A	25938	broad.mit.edu	37	14	31813139	31813139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:31813139C>T	ENST00000543095.2	-	21	3375	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1058Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R771Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1058Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1064Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1058							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTTGACATGTCGTGGAGCAAA	0.428000													16	46					0	0	0.004990	0	0
EHMT1	79813	broad.mit.edu	37	9	140728824	140728824	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140728824C>T	ENST00000460843.1	+	26	3591	c.3564C>T	c.(3562-3564)gaC>gaT	p.D1188D		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1188	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCATCGACGCGCGGTTCT	0.672000													12	37					0	0	0.000978	0	0
MED14	9282	broad.mit.edu	37	X	40534538	40534538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:40534538A>T	ENST00000324817.1	-	22	3074	c.2956T>A	c.(2956-2958)Tct>Act	p.S986T	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	986					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTATAGGAGAAGGGGGATTA	0.423000													14	39					0	0	0.001855	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535616	27535616	+	RNA	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:27535616G>C	ENST00000574842.1	+	0	255																											ATGGGTCTCAGAGCAGTCCAT	0.493000													72	159					0	0	0.003610	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	112	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677000													9	81					0.00244969	0.00352181	0.002450	1	0
PHYHIPL	84457	broad.mit.edu	37	10	60936718	60936718	+	Splice_Site	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:60936718C>T	ENST00000373880.4	+	1	369	c.106_splice	c.e1+1	p.D35_splice	PHYHIPL_ENST00000433653.1_Splice_Site_p.D35_splice	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	35										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GCGACCGGGACGGTAAGAGCG	0.697000													6	18					0	0	0.001168	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353698	47353698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:47353698C>T	ENST00000545968.1	-	33	3793	c.3739G>A	c.(3739-3741)Gac>Aac	p.D1247N	MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1247N|MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1246N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1246	Ig-like C2-type 7.		G -> R (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ATGCCCCCGTCAAAGGGGCAG	0.627000													28	48					0	0	0.005443	0	0
AJUBA	84962	broad.mit.edu	37	14	23444286	23444286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23444286G>A	ENST00000262713.2	-	5	1642	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.H423Y|AJUBA_ENST00000397388.3_Missense_Mutation_p.H6Y	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	423	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CAGCCTGGATGATAGGACTTC	0.512000													21	52					0	0	0.001882	0	0
F9	2158	broad.mit.edu	37	X	138619217	138619217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:138619217G>A	ENST00000218099.2	+	2	144	c.137G>A	c.(136-138)aGg>aAg	p.R46K	F9_ENST00000394090.2_Missense_Mutation_p.R46K|F9_ENST00000479617.1_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	46			R -> S (in HEMB; severe; Cambridge).|R -> T (in HEMB; severe).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CGGCCAAAGAGGTATAATTCA	0.323000													8	173					0	0	0.004482	0	0
ARNTL	406	broad.mit.edu	37	11	13397291	13397291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:13397291C>T	ENST00000389708.3	+	15	1662	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	ARNTL_ENST00000389707.4_Missense_Mutation_p.S435L|ARNTL_ENST00000396441.3_Missense_Mutation_p.S435L|ARNTL_ENST00000361003.4_Missense_Mutation_p.S318L|ARNTL_ENST00000401424.1_Missense_Mutation_p.S393L|ARNTL_ENST00000403510.3_Missense_Mutation_p.S392L|ARNTL_ENST00000403290.1_Missense_Mutation_p.S436L|ARNTL_ENST00000403482.3_Missense_Mutation_p.S434L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	436	PAC.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TATATTGTCTCAACTAACACT	0.403000													12	21					0	0	0.001855	0	0
UBR4	23352	broad.mit.edu	37	1	19505574	19505574	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:19505574G>A	ENST00000375267.2	-	18	2328	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	UBR4_ENST00000375254.3_Silent_p.D775D|UBR4_ENST00000375217.2_Silent_p.D775D|UBR4_ENST00000375226.2_Silent_p.D775D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	775					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCTGGGACGTCAGGGTCAC	0.458000													13	170					0	0	0.001368	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291045	15291045	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:15291045A>G	ENST00000263388.2	-	20	3240	c.3165T>C	c.(3163-3165)tgT>tgC	p.C1055C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1055	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACCCGCCTGACACAGCTGCT	0.597000													3	44					0	0	0.004672	0	0
GRIA2	2891	broad.mit.edu	37	4	158284166	158284166	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158284166C>T	ENST00000296526.7	+	15	2947	c.2622C>T	c.(2620-2622)aaC>aaT	p.N874N	GRIA2_ENST00000507898.1_Silent_p.N827N|GRIA2_ENST00000449365.1_Silent_p.N827N|GRIA2_ENST00000264426.9_Silent_p.N874N|GRIA2_ENST00000393815.2_Silent_p.N827N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N874N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGGTTACAACGTATATGGCA	0.408000													7	92					0	0	0.001984	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253069	100253069	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100253069G>A	ENST00000160382.5	-	3	349	c.243C>T	c.(241-243)gtC>gtT	p.V81V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	81	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGCGACATGACCTCCGCTC	0.612000													29	74					0	0	0.001786	0	0
CD19	930	broad.mit.edu	37	16	28944612	28944612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:28944612C>G	ENST00000538922.1	+	4	679	c.617C>G	c.(616-618)tCt>tGt	p.S206C	CD19_ENST00000567541.1_Missense_Mutation_p.S206C|CD19_ENST00000324662.3_Missense_Mutation_p.S206C	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	206	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCTGACTCTGTGTCCAGG	0.612000													14	25					0	0	0.001855	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774964	98774964	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:98774964G>C	ENST00000407474.3	+	4	1588	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GGCATCCGAAGATACTGTGAC	0.423000													30	26					0	0	0.006320	0	0
LCOR	84458	broad.mit.edu	37	10	98714869	98714869	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:98714869G>A	ENST00000540664.1	+	8	1035	c.492G>A	c.(490-492)ctG>ctA	p.L164L	LCOR_ENST00000371103.3_Silent_p.L164L|LCOR_ENST00000356016.3_Silent_p.L164L|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371097.4_Silent_p.L164L	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AAGAACTACTGAGCAGAAACC	0.478000													21	31					0	0	0.001882	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136166	74136166	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:74136166A>C	ENST00000322957.6	-	2	665	c.311T>G	c.(310-312)cTg>cGg	p.L104R		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	104					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGCCTGCAGCCCCGGGGG	0.736000													4	24					0	0	0.000248	0	0
SYAP1	94056	broad.mit.edu	37	X	16774794	16774794	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:16774794C>T	ENST00000380155.3	+	7	826	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343000													12	33					0	0	0.000978	0	0
TNIK	23043	broad.mit.edu	37	3	170819256	170819256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:170819256C>G	ENST00000436636.2	-	22	2917	c.2573G>C	c.(2572-2574)aGc>aCc	p.S858T	TNIK_ENST00000357327.5_Missense_Mutation_p.S829T|TNIK_ENST00000369326.5_Missense_Mutation_p.S836T|TNIK_ENST00000460047.1_Missense_Mutation_p.S795T|TNIK_ENST00000284483.8_Missense_Mutation_p.S850T|TNIK_ENST00000341852.6_Missense_Mutation_p.S774T|TNIK_ENST00000470834.1_Missense_Mutation_p.S821T|TNIK_ENST00000475336.1_Missense_Mutation_p.S766T|TNIK_ENST00000538048.1_Missense_Mutation_p.S810T|TNIK_ENST00000488470.1_Missense_Mutation_p.S803T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	858	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTATGTCGCTGACAGCCAC	0.453000													109	245					0	0	0.003610	0	0
CCDC110	256309	broad.mit.edu	37	4	186380971	186380971	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380971T>A	ENST00000307588.3	-	6	845	c.770A>T	c.(769-771)gAt>gTt	p.D257V	CCDC110_ENST00000510617.1_Missense_Mutation_p.D257V|CCDC110_ENST00000393540.3_Missense_Mutation_p.D220V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	257						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTTCCCCATCATGTGACTT	0.358000													6	110					0	0	0.001168	0	0
PRKD1	5587	broad.mit.edu	37	14	30046490	30046490	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:30046490T>A	ENST00000331968.5	-	18	2922	c.2693A>T	c.(2692-2694)gAa>gTa	p.E898V	PRKD1_ENST00000415220.2_Missense_Mutation_p.E906V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	898					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)		TTCTGTTTCTTCAGTCTCAGG	0.493000													13	79					0	0	0.004990	0	0
PSMG3	84262	broad.mit.edu	37	7	1608785	1608785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:1608785G>C	ENST00000288607.2	-	1	844	c.191C>G	c.(190-192)aCa>aGa	p.T64R	PSMG3_ENST00000404674.3_Missense_Mutation_p.T64R|PSMG3_ENST00000252329.3_Missense_Mutation_p.T64R	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	64										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AAGGACTTTTGTGGTGAGCAC	0.602000													29	69					0	0	0.004289	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868022	7868022	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7868022G>C	ENST00000264669.5	-	2	311	c.175C>G	c.(175-177)Cat>Gat	p.H59D	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	59					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAATGGGCATGATGGAATTTG	0.438000													23	53					0	0	0.002299	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409145	1409145	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:1409145G>A	ENST00000270349.9	-	11	1621	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	SLC6A3_ENST00000453492.2_Silent_p.F498F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	498					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACTCACCATAGAACCAGGCCA	0.582000													8	8					0	0	0.000978	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043984	77043984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:77043984C>G	ENST00000339142.2	+	5	1215	c.660C>G	c.(658-660)atC>atG	p.I220M	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.I220M|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.I138M|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.I138M|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.I230M|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.I220M	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	220	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGTGGTGATCTTGTTCGCGC	0.597000													29	54					0	0	0.006320	0	0
PACSIN1	29993	broad.mit.edu	37	6	34498110	34498110	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:34498110C>T	ENST00000538621.1	+	7	1124	c.879C>T	c.(877-879)ccC>ccT	p.P293P	PACSIN1_ENST00000374043.2_Silent_p.P251P|PACSIN1_ENST00000244458.2_Silent_p.P293P	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	293					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCAGTGGCCCCGGCATGCCCA	0.617000													16	27					0	0	0.004007	0	0
EPPK1	83481	broad.mit.edu	37	8	144943655	144943655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144943655G>A	ENST00000525985.1	-	2	3838	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F				P58107	EPIPL_HUMAN	epiplakin 1	1256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGCCCCAGAGGGCTGTAG	0.716000													10	12					0	0	0.006214	0	0
MTMR11	10903	broad.mit.edu	37	1	149905304	149905304	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905304A>T	ENST00000439741.2	-	10	1230	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.L255Q|MTMR11_ENST00000406732.3_Missense_Mutation_p.L299Q|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	327	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCACCAGGCAGGCAGAGGGC	0.557000													36	101					0	0	0.003271	0	0
ZNF584	201514	broad.mit.edu	37	19	58928446	58928446	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58928446C>T	ENST00000306910.4	+	4	1084	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ZNF584_ENST00000593920.1_Silent_p.F142F|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		AGAGACCCTTCAGATGCCCAA	0.468000													10	31					0	0	0.006214	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868959	51868959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:51868959C>T	ENST00000453097.2	+	16	2358	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	SLC4A8_ENST00000358657.3_Missense_Mutation_p.T741M|SLC4A8_ENST00000394856.1_Missense_Mutation_p.T661M|SLC4A8_ENST00000514353.3_Missense_Mutation_p.T661M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	714					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTAAAGACGTTTAAGACG	0.443000													5	80					0	0	0.001984	0	0
N4BP2	55728	broad.mit.edu	37	4	40122465	40122465	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:40122465A>G	ENST00000261435.6	+	9	3150	c.2734A>G	c.(2734-2736)Att>Gtt	p.I912V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	912						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAACCTAGAAATTGGAACAAA	0.413000													16	43					0	0	0.003163	0	0
ATP1A3	478	broad.mit.edu	37	19	42485787	42485787	+	Splice_Site	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42485787C>T	ENST00000545399.1	-	11	1496	c.1341_splice	c.e11-1	p.R448_splice	ATP1A3_ENST00000602133.1_Splice_Site_p.R405_splice|ATP1A3_ENST00000543770.1_Splice_Site_p.R446_splice|ATP1A3_ENST00000302102.5_Splice_Site_p.R435_splice	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	435					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCACATCCCTCTGCAAGGA	0.592000													5	32					0	0	0.000602	0	0
RNF213	57674	broad.mit.edu	37	17	78265449	78265449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:78265449C>G	ENST00000582970.1	+	8	1437	c.1294C>G	c.(1294-1296)Ctt>Gtt	p.L432V	RNF213_ENST00000508628.2_Missense_Mutation_p.L481V|RNF213_ENST00000319921.4_Missense_Mutation_p.L432V|RNF213_ENST00000456466.1_Missense_Mutation_p.L432V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	432										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGACCGCGTTCTTGTTGAAGG	0.398000													5	94					0	0	0.000602	0	0
CNTN4	152330	broad.mit.edu	37	3	2777987	2777987	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:2777987C>G	ENST00000397461.1	+	4	528	c.144C>G	c.(142-144)ctC>ctG	p.L48L	CNTN4_ENST00000418658.1_Silent_p.L48L|CNTN4_ENST00000427331.1_Silent_p.L48L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	48	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTGAAGCTCAATTGTGAAG	0.348000													9	84					0	0	0.004482	0	0
PDE4C	5143	broad.mit.edu	37	19	18324232	18324232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:18324232C>G	ENST00000355502.3	-	17	2425	c.1554G>C	c.(1552-1554)aaG>aaC	p.K518N	PDE4C_ENST00000447275.2_Missense_Mutation_p.K412N|PDE4C_ENST00000539010.1_Missense_Mutation_p.K287N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000262805.11_Missense_Mutation_p.K486N|PDE4C_ENST00000594465.2_Missense_Mutation_p.K518N|PDE4C_ENST00000594617.2_Missense_Mutation_p.K518N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	518					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TTGTCACCTTCTTGGTCTCCA	0.562000													15	19					0	0	0.003163	0	0
ETV1	2115	broad.mit.edu	37	7	13975358	13975358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:13975358C>A	ENST00000343495.5	-	7	1213	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	ETV1_ENST00000420159.2_Missense_Mutation_p.D119Y|ETV1_ENST00000403685.1_Missense_Mutation_p.D159Y|ETV1_ENST00000430479.1_Missense_Mutation_p.D177Y|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.D137Y|ETV1_ENST00000405358.4_Missense_Mutation_p.D191Y|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Missense_Mutation_p.D177Y|ETV1_ENST00000405218.2_Missense_Mutation_p.D177Y|ETV1_ENST00000242066.5_Missense_Mutation_p.D159Y			P50549	ETV1_HUMAN	ets variant 1	177					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCTGCTATCTGGTATGGAC	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								12	168					6.72482e-11	1.0139e-10	0.003163	1	0
LRP5L	91355	broad.mit.edu	37	22	25755871	25755871	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:25755871G>C	ENST00000444995.3	-	4	889	c.189C>G	c.(187-189)ctC>ctG	p.L63L	LRP5L_ENST00000402785.2_Silent_p.L63L|LRP5L_ENST00000402859.2_Silent_p.L63L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	63										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGGTGCTGTTGAGGCACGTCA	0.597000													18	80					0	0	0.004990	0	0
CNGB3	54714	broad.mit.edu	37	8	87623893	87623893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:87623893C>G	ENST00000320005.5	-	14	1632	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	529					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTGTGTATCACAACCCTAT	0.294000													10	34					0	0	0.008291	0	0
ADCY2	108	broad.mit.edu	37	5	7766894	7766894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7766894G>A	ENST00000338316.4	+	17	2278	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R550H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	730					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGATTCTGCGTGCGCAGAAT	0.428000													11	114					0	0	0.001855	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615340	17615340	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.F441F|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597000													24	65					0	0	0.003330	0	0
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:81968079G>A	ENST00000359376.3	+	26	2999	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	929					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478000													18	30					0	0	0.001523	0	0
SAGE1	55511	broad.mit.edu	37	X	134991057	134991057	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134991057G>A	ENST00000535938.1	+	13	1643	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	SAGE1_ENST00000324447.3_Silent_p.K492K|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.K492K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	492										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGAGAAGATGGAAAGTG	0.468000													32	61					0	0	0.002445	0	0
CNBD2	140894	broad.mit.edu	37	20	34575417	34575417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:34575417G>C	ENST00000373973.3	+	7	990	c.817G>C	c.(817-819)Gat>Cat	p.D273H	CNBD2_ENST00000538900.1_Missense_Mutation_p.D273H|CNBD2_ENST00000349339.1_Missense_Mutation_p.D273H					cyclic nucleotide binding domain containing 2																		GATCTCAAAAGATTTTGGAGA	0.493000													10	27					0	0	0.006214	0	0
ZNF646	9726	broad.mit.edu	37	16	31092645	31092645	+	Missense_Mutation	SNP	C	C	T	rs80281572	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:31092645C>T	ENST00000394979.2	+	1	5423	c.5000C>T	c.(4999-5001)tCc>tTc	p.S1667F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1667F			O15015	ZN646_HUMAN	zinc finger protein 646	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGGTGACGTCCATGGCGGCT	0.662000													11	50					0	0	0.008291	0	0
HLA-B	3106	broad.mit.edu	37	6	31324637	31324637	+	Missense_Mutation	SNP	G	G	C	rs41546213		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31324637G>C	ENST00000412585.2	-	2	199	c.171C>G	c.(169-171)ttC>ttG	p.F57L		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGAACCTCACGAACTGGGTGT	0.657000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				11	18					0	0	0.001368	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1																						TGCCTGGGCCATGGAGCACTC	0.473000													4	10					0	0	0.000248	0	0
CHD4	1108	broad.mit.edu	37	12	6709459	6709459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709459G>A	ENST00000309577.6	-	9	1329	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	CHD4_ENST00000544484.1_Missense_Mutation_p.P386L|CHD4_ENST00000357008.2_Missense_Mutation_p.P389L|CHD4_ENST00000544040.1_Missense_Mutation_p.P382L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAAGCACGGGGACAGGTATC	0.592000													16	98					0	0	0.004990	0	0
MUC21	394263	broad.mit.edu	37	6	30954680	30954680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30954680C>G	ENST00000376296.3	+	2	969	c.728C>G	c.(727-729)tCt>tGt	p.S243C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	243	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.642000													7	305					0	0	0.004482	0	0
SLX4	84464	broad.mit.edu	37	16	3639184	3639184	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:3639184C>T	ENST00000294008.3	-	12	5095	c.4455G>A	c.(4453-4455)caG>caA	p.Q1485Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1485	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCAATTTCCTCTGGGTAGTGC	0.647000								Direct reversal of damage					69	139					0	0	0.003610	0	0
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:180685989C>T	ENST00000357559.4	+	14	1733	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L|FXR1_ENST00000305586.7_Missense_Mutation_p.S365L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.S450L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512000													18	38					0	0	0.007413	0	0
ELMO2	63916	broad.mit.edu	37	20	45000282	45000282	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:45000282C>G	ENST00000372176.1	-	18	1833	c.1365G>C	c.(1363-1365)caG>caC	p.Q455H	ELMO2_ENST00000290246.6_Missense_Mutation_p.Q543H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q543H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q360H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q541H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q555H|ELMO2_ENST00000454865.2_Missense_Mutation_p.Q275H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	543	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGGCGCTGCTGCTTGATCA	0.612000													12	32					0	0	0.001855	0	0
MYH10	4628	broad.mit.edu	37	17	8422110	8422110	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:8422110C>G	ENST00000360416.3	-	21	2482		c.e21-1		MYH10_ENST00000269243.4_Splice_Site|MYH10_ENST00000396239.1_Splice_Site|MYH10_ENST00000379980.4_Splice_Site	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGCCCGGATCTAAGAGAGAA	0.353000													3	46					0	0	0.000248	0	0
CEP350	9857	broad.mit.edu	37	1	180012229	180012229	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180012229C>T	ENST00000367607.3	+	20	4819	c.4401C>T	c.(4399-4401)gtC>gtT	p.V1467V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1467						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGATGCTGTCGTGGCTTCAG	0.448000													41	87					0	0	0.002222	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219178	65219178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65219178G>C	ENST00000380230.3	+	6	579	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D184H|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D93H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D184H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D93H|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	184					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTCTGGCTGTGACCACAATGT	0.617000													4	81					0	0	0.000248	0	0
ACAD10	80724	broad.mit.edu	37	12	112183993	112183993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:112183993G>C	ENST00000455480.2	+	15	2431	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	ACAD10_ENST00000392636.2_Missense_Mutation_p.E323Q|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.E721Q	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	721							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTACCCTTAGAGGCTGATCC	0.468000													21	44					0	0	0.001523	0	0
PSD4	23550	broad.mit.edu	37	2	113940969	113940969	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113940969C>T	ENST00000245796.6	+	2	1131	c.936C>T	c.(934-936)atC>atT	p.I312I	PSD4_ENST00000441564.2_Silent_p.I312I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	312					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCTGCTATCAGTGGGCATT	0.617000													9	30					0	0	0.004482	0	0
SOX1	6656	broad.mit.edu	37	13	112722212	112722212	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:112722212G>A	ENST00000330949.1	+	1	300	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	80					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACAACTCGGAGATCAGCAAGC	0.657000													22	23					0	0	0.001882	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:69424816C>T	ENST00000333026.3	+	7	974	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463000													10	26					0	0	0.006214	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	45					0	0	0.004672	0	0
ST5	6764	broad.mit.edu	37	11	8724164	8724164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:8724164G>C	ENST00000534127.1	-	17	3060	c.2675C>G	c.(2674-2676)tCa>tGa	p.S892*	ST5_ENST00000530991.1_Nonsense_Mutation_p.S364*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S472*|ST5_ENST00000534278.1_Nonsense_Mutation_p.S83*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S892*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Nonsense_Mutation_p.S472*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S405*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S892*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	892	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CAGCAGCAGTGAGGCAAAGAT	0.592000													16	55					0	0	0.004007	0	0
HCFC2	29915	broad.mit.edu	37	12	104461751	104461751	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104461751G>C	ENST00000229330.4	+	3	443	c.339G>C	c.(337-339)gtG>gtC	p.V113V		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	113					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAAAAAGTGAAACCCCATC	0.408000													53	119					0	0	0.003610	0	0
CST1	1469	broad.mit.edu	37	20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:23729656C>G	ENST00000304749.2	-	2	409	c.339G>C	c.(337-339)caG>caC	p.Q113H	CST1_ENST00000398402.1_Missense_Mutation_p.Q113H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	113						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.562000													8	165					0	0	0.004482	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596383	41596383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:41596383C>T	ENST00000330436.3	+	4	568	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	190					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTTTGGGGACCGCTTTGACTA	0.567000													30	74					0	0	0.001786	0	0
NFATC1	4772	broad.mit.edu	37	18	77193713	77193713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:77193713C>T	ENST00000253506.5	+	3	1730	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	NFATC1_ENST00000591814.1_Missense_Mutation_p.S454L|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.S454L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000427363.2_Missense_Mutation_p.S454L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S441L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S441L|NFATC1_ENST00000587635.1_Missense_Mutation_p.S454L|NFATC1_ENST00000592223.1_Missense_Mutation_p.S441L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S441L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	454	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGAAGGCGTCGGCCGGAGGA	0.622000													29	72					0	0	0.007291	0	0
THSD7A	221981	broad.mit.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:11485796T>C	ENST00000423059.3	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	986	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433000										HNSCC(18;0.044)			3	187					0	0	0.000248	0	0
COLEC12	81035	broad.mit.edu	37	18	346549	346549	+	Missense_Mutation	SNP	C	C	T	rs140999458		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:346549C>T	ENST00000400256.3	-	5	1280	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTCAGCGTCCGCAGGTGGTG	0.473000													18	46					0	0	0.008871	0	0
HCAR1	27198	broad.mit.edu	37	12	123214171	123214171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123214171G>A	ENST00000432564.1	-	1	958	c.716C>T	c.(715-717)gCt>gTt	p.A239V	HCAR1_ENST00000356987.2_Missense_Mutation_p.A239V|HCAR1_ENST00000436083.2_Missense_Mutation_p.A239V	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	239					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATAGAGTCTAGCAGACACGCT	0.572000													23	45					0	0	0.002299	0	0
TEX29	121793	broad.mit.edu	37	13	111996452	111996452	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:111996452C>T	ENST00000283547.1	+	6	567	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	146						integral to membrane											TAACAGAAGCCGAAGAAACTG	0.383000													17	27					0	0	0.004990	0	0
GTPBP4	23560	broad.mit.edu	37	10	1045024	1045024	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:1045024C>G	ENST00000360803.4	+	6	725	c.643C>G	c.(643-645)Cta>Gta	p.L215V	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L168V|GTPBP4_ENST00000538293.1_Missense_Mutation_p.L99V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	215					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTATAAGTATCTACGTTGGCA	0.438000													13	28					0	0	0.001855	0	0
ERBB3	2065	broad.mit.edu	37	12	56481620	56481620	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56481620T>C	ENST00000267101.3	+	6	1095	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	ERBB3_ENST00000415288.2_Missense_Mutation_p.F160L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	219					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTCACTGCTTTGGGCCCAA	0.547000													26	89					0	0	0.003954	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20453517	20453517	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:20453517G>A	ENST00000202677.6	-	37	5593	c.5451C>T	c.(5449-5451)aaC>aaT	p.N1817N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1817	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGCTGGCGTTGATGCACG	0.468000													15	36					0	0	0.003163	0	0
PRDM2	7799	broad.mit.edu	37	1	14109005	14109005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14109005C>G	ENST00000235372.7	+	8	5571	c.4715C>G	c.(4714-4716)tCt>tGt	p.S1572C	PRDM2_ENST00000311066.5_Missense_Mutation_p.S1572C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1371C|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1371C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1572						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCTCCTCCTCTTTAAGGAAC	0.488000													20	51					0	0	0.001882	0	0
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373000										HNSCC(4;0.00038)			10	19					0	0	0.006214	0	0
S1PR4	8698	broad.mit.edu	37	19	3179318	3179318	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:3179318G>A	ENST00000246115.3	+	1	583	c.528G>A	c.(526-528)ctG>ctA	p.L176L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	176					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCGCGCTGCTGGGGATGCTGC	0.667000													12	134					0	0	0.002450	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165521	134165521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:134165521C>G	ENST00000372264.3	+	1	441	c.137C>G	c.(136-138)tCa>tGa	p.S46*	PPAPDC3_ENST00000372261.1_Nonsense_Mutation_p.S46*	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	46						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCGGGCCCATCAGCACAGCCC	0.682000													9	23					0	0	0.004482	0	0
NUAK2	81788	broad.mit.edu	37	1	205290541	205290541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:205290541C>G	ENST00000367157.3	-	1	342	c.216G>C	c.(214-216)gaG>gaC	p.E72D		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	72	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCCGAGCTCTCCCGCGCCT	0.731000													19	40					0	0	0.007413	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	21					0	0	0.004672	0	0
SFN	2810	broad.mit.edu	37	1	27190444	27190444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:27190444G>C	ENST00000339276.4	+	1	812	c.741G>C	c.(739-741)caG>caC	p.Q247H		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	247					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGAGCCCCAGAGCTGAGTGT	0.687000													7	21					0	0	0.003080	0	0
PRKAG2	51422	broad.mit.edu	37	7	151262822	151262822	+	Silent	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:151262822A>T	ENST00000287878.4	-	12	1887	c.1383T>A	c.(1381-1383)ccT>ccA	p.P461P	PRKAG2_ENST00000433631.2_Silent_p.P336P|PRKAG2_ENST00000492843.1_Silent_p.P337P|PRKAG2_ENST00000418337.2_Silent_p.P220P|PRKAG2_ENST00000392801.2_Silent_p.P417P	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	461	CBS 3.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CATCCACAACAGGCAGAGCTG	0.433000													24	73					0	0	0.003954	0	0
CCDC27	148870	broad.mit.edu	37	1	3683848	3683848	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:3683848G>C	ENST00000294600.2	+	10	1666	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	528										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCATCTCAGAGTTGGACAC	0.567000													6	30					0	0	0.001168	0	0
DENND2C	163259	broad.mit.edu	37	1	115153710	115153710	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:115153710G>C	ENST00000393274.1	-	9	1978	c.1353C>G	c.(1351-1353)gcC>gcG	p.A451A	DENND2C_ENST00000393276.3_Silent_p.A394A|DENND2C_ENST00000393277.1_Silent_p.A451A|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	451										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGATACTCGGCATCACTTT	0.458000													5	75					0	0	0.001168	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398347	39398347	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39398347G>C	ENST00000392079.3	+	5	1019	c.921G>C	c.(919-921)taG>taC	p.*307Y	NFKBIB_ENST00000313582.5_Intron|NFKBIB_ENST00000572515.1_Nonstop_Mutation_p.*339Y			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	0					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGTCAGGATAGACCGGCAGGC	0.617000													4	8					0	0	0.000248	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	39					0	0	0.004672	0	0
ERBB3	2065	broad.mit.edu	37	12	56477581	56477581	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56477581G>A	ENST00000267101.3	+	2	569	c.129G>A	c.(127-129)gaG>gaA	p.E43E	ERBB3_ENST00000411731.2_Silent_p.E43E|ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	43					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGATGCTGAGAACCAATACC	0.547000													51	138					0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135015069	135015069	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015069G>A	ENST00000304613.3	+	17	3075	c.3054G>A	c.(3052-3054)tcG>tcA	p.S1018S	KNDC1_ENST00000368571.2_Silent_p.S953S|KNDC1_ENST00000368572.2_Silent_p.S1020S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1018					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCGGTGTCGGATGTGGACT	0.617000													36	68					0	0	0.003755	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143809	1143809	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:1143809G>A	ENST00000328449.5	-	4	724	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	151	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCGCGGCCAGGTCGAAGGCG	0.667000													4	48					0	0	0.000248	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237233	33237233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:33237233C>T	ENST00000401073.2	+	6	2523	c.2453C>T	c.(2452-2454)tCg>tTg	p.S818L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S759L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S770L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	759	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCGGCTGCTTCGTCCTCCTCA	0.652000													19	42					0	0	0.006122	0	0
FAIM3	9214	broad.mit.edu	37	1	207085264	207085264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:207085264G>A	ENST00000367091.3	-	4	664	c.521C>T	c.(520-522)cCa>cTa	p.P174L	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Missense_Mutation_p.P62L|FAIM3_ENST00000420007.2_Missense_Mutation_p.P174L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	174					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGGTGAACTGGAGGGACCTT	0.542000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	25					0	0	0.003163	0	0
DDA1	79016	broad.mit.edu	37	19	17430407	17430407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17430407C>G	ENST00000359866.4	+	5	375	c.251C>G	c.(250-252)tCc>tGc	p.S84C		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	84										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCGAGAGCTCCGCACCTCCC	0.602000													3	9					0	0	0.000248	0	0
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33.				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						GACGCCACCTGAGTATTCTTC	0.473000										HNSCC(5;0.00058)			12	28					0	0	0.000978	0	0
ABCB1	5243	broad.mit.edu	37	7	87179526	87179526	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:87179526G>C	ENST00000265724.3	-	13	1728	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	ABCB1_ENST00000543898.1_Silent_p.V373V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	437	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCATCAGCTGGACTGTTGTGC	0.557000													3	48					0	0	0.004672	0	0
NEB	4703	broad.mit.edu	37	2	152512709	152512709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:152512709C>T	ENST00000427231.2	-	49	6655	c.6453G>A	c.(6451-6453)atG>atA	p.M2151I	NEB_ENST00000604864.1_Missense_Mutation_p.M2151I|NEB_ENST00000409198.1_Missense_Mutation_p.M2151I|NEB_ENST00000603639.1_Missense_Mutation_p.M2151I|NEB_ENST00000172853.10_Missense_Mutation_p.M2151I|NEB_ENST00000397345.3_Missense_Mutation_p.M2151I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2151					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCAATGTTCATTGCATCTG	0.468000													98	280					0	0	0.003610	0	0
LGMN	5641	broad.mit.edu	37	14	93199105	93199105	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:93199105G>A	ENST00000393218.2	-	3	364	c.27C>T	c.(25-27)ctC>ctT	p.L9L	LGMN_ENST00000557434.1_Silent_p.L9L|LGMN_ENST00000555699.1_Silent_p.L9L|LGMN_ENST00000334869.4_Silent_p.L9L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	9					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGGCCACACTGAGGAATACAG	0.478000													22	65					0	0	0.001523	0	0
BTBD17	388419	broad.mit.edu	37	17	72353305	72353305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72353305C>T	ENST00000375366.3	-	3	1054	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	310						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GGCAGGAAGGCGCTGCCGTTG	0.716000													5	11					0	0	0.001168	0	0
ACSS1	84532	broad.mit.edu	37	20	25011402	25011402	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:25011402G>A	ENST00000537502.1	-	1	1906	c.375C>T	c.(373-375)atC>atT	p.I125I	ACSS1_ENST00000542618.1_Silent_p.I87I|ACSS1_ENST00000323482.4_Silent_p.I208I|ACSS1_ENST00000432802.2_Silent_p.I208I			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	208					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCATTGATCCTCCCAG	0.592000													24	43					0	0	0.004656	0	0
STK10	6793	broad.mit.edu	37	5	171534828	171534828	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:171534828C>G	ENST00000176763.5	-	5	892	c.549G>C	c.(547-549)ctG>ctC	p.L183L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	183	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGAGTCTTCAGATTCTTGG	0.493000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	0.003080	0	0
GRIA2	2891	broad.mit.edu	37	4	158233953	158233953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158233953G>C	ENST00000296526.7	+	4	917	c.592G>C	c.(592-594)Gat>Cat	p.D198H	GRIA2_ENST00000507898.1_Missense_Mutation_p.D151H|GRIA2_ENST00000449365.1_Missense_Mutation_p.D151H|GRIA2_ENST00000264426.9_Missense_Mutation_p.D198H|GRIA2_ENST00000393815.2_Missense_Mutation_p.D151H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	198					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTTTTTCAAGATCTGGAGTT	0.388000													22	67					0	0	0.002299	0	0
ATPAF2	91647	broad.mit.edu	37	17	17942267	17942267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:17942267C>T	ENST00000474627.3	-	1	215	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	ATPAF2_ENST00000585101.1_Missense_Mutation_p.G21S	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CTGGGGCCACCCGCCGGCCGA	0.667000													12	7					0	0	0.000978	0	0
ZNF503	84858	broad.mit.edu	37	10	77158680	77158680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:77158680G>C	ENST00000372524.4	-	2	2254	c.1768C>G	c.(1768-1770)Cgc>Ggc	p.R590G	ZNF503_ENST00000535216.1_Missense_Mutation_p.R590G|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGGGGGCTGCGCAGCGCCAGC	0.751000													5	9					0	0	0.000602	0	0
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403000													66	71					0	0	0.003610	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433716	69433716	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:69433716C>T	ENST00000317746.2	-	1	529	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	163					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTAAGTAGCTCAGCCAGCAGC	0.443000													77	214					0	0	0.003610	0	0
EPS8L2	64787	broad.mit.edu	37	11	721628	721628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721628G>A	ENST00000533256.1	+	11	1207	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPS8L2_ENST00000530636.1_Missense_Mutation_p.E278K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.E278K|EPS8L2_ENST00000526198.1_Missense_Mutation_p.E294K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	278						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGCAGCCGAGGCTTTCAA	0.647000													27	50					0	0	0.005443	0	0
CD3EAP	10849	broad.mit.edu	37	19	45910389	45910389	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:45910389G>A	ENST00000309424.3	+	2	548	c.60G>A	c.(58-60)gcG>gcA	p.A20A	CD3EAP_ENST00000589804.1_Silent_p.A22A	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	20					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACTTTACCGCGAAGCCCCCAG	0.612000													30	76					0	0	0.002096	0	0
TXNRD2	10587	broad.mit.edu	37	22	19864723	19864723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:19864723C>T	ENST00000535882.1	-	17	1476	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	TXNRD2_ENST00000400519.1_Missense_Mutation_p.V493M|TXNRD2_ENST00000400525.1_Missense_Mutation_p.V471M|TXNRD2_ENST00000400521.1_Missense_Mutation_p.V494M|TXNRD2_ENST00000542719.1_Missense_Mutation_p.V464M|TXNRD2_ENST00000400518.1_Missense_Mutation_p.V464M			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	494					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGATACCCACGGTCCGCATC	0.657000													8	24					0	0	0.004482	0	0
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328000													27	47					0	0	0.003954	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:66992626C>T	ENST00000276570.5	+	5	635	c.348C>T	c.(346-348)atC>atT	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557000													24	58					0	0	0.003954	0	0
PRDM2	7799	broad.mit.edu	37	1	14108593	14108593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108593C>T	ENST00000235372.7	+	8	5159	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	PRDM2_ENST00000311066.5_Nonsense_Mutation_p.Q1435*|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.Q1234*|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.Q1234*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1435	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCAATTCTTCAGAAAAACAA	0.378000													65	139					0	0	0.003610	0	0
MTFMT	123263	broad.mit.edu	37	15	65319319	65319319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65319319G>C	ENST00000220058.4	-	2	282	c.269C>G	c.(268-270)tCa>tGa	p.S90*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	90						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCCTTTTGGTGATGGGGAAGG	0.443000													12	43					0	0	0.001855	0	0
DDX55	57696	broad.mit.edu	37	12	124092179	124092179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:124092179G>A	ENST00000238146.4	+	5	421	c.371G>A	c.(370-372)gGa>gAa	p.G124E	DDX55_ENST00000538744.1_Missense_Mutation_p.G124E	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	124	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAATCCTGGAGAAGATGTT	0.443000													42	129					0	0	0.002852	0	0
IGFN1	91156	broad.mit.edu	37	1	201190818	201190818	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:201190818G>T	ENST00000335211.4	+	19	10275	c.10145G>T	c.(10144-10146)gGa>gTa	p.G3382V	IGFN1_ENST00000295591.8_Missense_Mutation_p.G542V	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTAATGAAGGAGGCCAGAGC	0.637000													23	32					2.48779e-11	3.76047e-11	0.005443	1	0
SRSF7	6432	broad.mit.edu	37	2	38977291	38977291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:38977291C>G	ENST00000313117.6	-	2	311	c.74G>C	c.(73-75)gGa>gCa	p.G25A	SRSF7_ENST00000446327.2_Missense_Mutation_p.G25A|SRSF7_ENST00000409276.1_Missense_Mutation_p.G25A	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	25	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTCTAACTCTCCTTTGCCAGC	0.423000													6	72					0	0	0.001168	0	0
HOXB5	3215	broad.mit.edu	37	17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:46670537C>T	ENST00000239151.5	-	1	786	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	170						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GTCTGCCCCTCGGGCGCGGCT	0.607000													16	45					0	0	0.008871	0	0
PARVG	64098	broad.mit.edu	37	22	44583758	44583758	+	Splice_Site	SNP	C	C	T	rs147016590		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:44583758C>T	ENST00000422871.1	+	5	671	c.247_splice	c.e5+1	p.Q83_splice	PARVG_ENST00000415224.1_Splice_Site_p.Q83_splice|PARVG_ENST00000444313.2_Splice_Site_p.Q83_splice	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	83	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.Q83*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCACCTATTCCGTAAGTGGCT	0.612000													13	34					0	0	0.001368	0	0
GBP1	2633	broad.mit.edu	37	1	89521738	89521738	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:89521738C>T	ENST00000370473.4	-	8	1548	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	443					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTTTTCTTCAGGTCTTGTA	0.438000													77	186					0	0	0.003610	0	0
MYO15A	51168	broad.mit.edu	37	17	18039062	18039062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:18039062G>A	ENST00000205890.5	+	13	4858	c.4520G>A	c.(4519-4521)cGa>cAa	p.R1507Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1507	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGAGTGCCCGAGAGATCCAG	0.522000													7	24					0	0	0.003080	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669819	24669819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:24669819C>T	ENST00000376454.3	+	3	406	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	KIAA1217_ENST00000376462.1_Missense_Mutation_p.H46Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.H126Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.H126Y|KIAA1217_ENST00000430453.2_Missense_Mutation_p.H47Y	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	126					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAACTGTCTCACAGTCCTCA	0.468000													17	45					0	0	0.004007	0	0
CTPS1	1503	broad.mit.edu	37	1	41454371	41454371	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:41454371C>G	ENST00000372621.4	+	5	1052	c.544C>G	c.(544-546)Cta>Gta	p.L182V	CTPS1_ENST00000543104.1_Missense_Mutation_p.L189V|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Missense_Mutation_p.L182V	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	182					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CCACGTCAGTCTAGTTCCCCA	0.443000													5	64					0	0	0.000602	0	0
CEP72	55722	broad.mit.edu	37	5	644450	644450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:644450G>C	ENST00000264935.5	+	10	1666	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	526					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATCTTTGGAAGAGAACAGTAG	0.368000													4	107					0	0	0.000248	0	0
LRFN2	57497	broad.mit.edu	37	6	40359796	40359796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:40359796C>G	ENST00000338305.6	-	3	2798	c.2256G>C	c.(2254-2256)tgG>tgC	p.W752C		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	752						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGCTTCGTCCAGATGTTCG	0.642000													11	24					0	0	0.000978	0	0
NDOR1	27158	broad.mit.edu	37	9	140109353	140109353	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140109353C>T	ENST00000371521.4	+	8	1031	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NDOR1_ENST00000427047.2_Silent_p.L282L|NDOR1_ENST00000344894.5_Silent_p.L316L|NDOR1_ENST00000458322.2_Silent_p.L316L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	316	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637000													67	47					0	0	0.003610	0	0
TANK	10010	broad.mit.edu	37	2	162060088	162060088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162060088C>T	ENST00000392749.2	+	3	429	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	TANK_ENST00000259075.2_Missense_Mutation_p.L64F|TANK_ENST00000406287.1_Missense_Mutation_p.L122F|TANK_ENST00000457476.1_Missense_Mutation_p.L64F|TANK_ENST00000403609.1_Missense_Mutation_p.L64F|TANK_ENST00000405852.1_Missense_Mutation_p.L64F|TANK_ENST00000402568.1_Missense_Mutation_p.L123F	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	64						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCAGTTACTTCTTGTGAATTC	0.343000													15	29					0	0	0.002450	0	0
TEX15	56154	broad.mit.edu	37	8	30699749	30699749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:30699749C>T	ENST00000256246.2	-	1	6859	c.6785G>A	c.(6784-6786)aGa>aAa	p.R2262K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2262										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTCCTTCTGTTATACAG	0.303000													23	52					0	0	0.002780	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													6	53					5.18039e-06	7.65344e-06	0.003080	1	0
GABRE	2564	broad.mit.edu	37	X	151123391	151123391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:151123391C>G	ENST00000370328.3	-	9	1356	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGACCCTCAGGGCTACCT	0.592000													8	19					0	0	0.004482	0	0
KLHL2	11275	broad.mit.edu	37	4	166184408	166184408	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:166184408A>G	ENST00000226725.6	+	5	700	c.441A>G	c.(439-441)gaA>gaG	p.E147E	KLHL2_ENST00000514860.1_Silent_p.E151E|KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000421009.2_Silent_p.E50E|KLHL2_ENST00000506761.1_5'UTR|KLHL2_ENST00000538127.1_Silent_p.E59E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	147					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTGTTGTGAATTTTTGGAAT	0.463000													32	61					0	0	0.003755	0	0
PCDH15	65217	broad.mit.edu	37	10	55582664	55582664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:55582664C>T	ENST00000361849.3	-	34	5222	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1585K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1539K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1605K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1608K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1568K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1608					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTCATTTTCAGCTTTCTGC	0.443000										HNSCC(58;0.16)			75	85					0	0	0.003610	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111705270	111705270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:111705270G>C	ENST00000374595.4	-	18	2189	c.2110C>G	c.(2110-2112)Ctt>Gtt	p.L704V	FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L620V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.L704V|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.L105V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	704					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAAAGTGAAAGAAGTTGGACT	0.303000													19	20					0	0	0.001523	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724426	140724426	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140724426C>A	ENST00000253812.6	+	1	826	c.826C>A	c.(826-828)Caa>Aaa	p.Q276K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAATGCTCAAGTGTCTTA	0.448000													16	33					0.000422831	0.000612377	0.004007	1	0
KNTC1	9735	broad.mit.edu	37	12	123102942	123102942	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123102942C>G	ENST00000333479.7	+	58	6260	c.6083C>G	c.(6082-6084)tCa>tGa	p.S2028*	KNTC1_ENST00000450485.2_Nonsense_Mutation_p.S953*|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2028					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACTGCTTTCAGGTATTTCG	0.393000													11	24					0	0	0.008291	0	0
DISP2	85455	broad.mit.edu	37	15	40662125	40662125	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:40662125C>T	ENST00000267889.3	+	8	3899	c.3812C>T	c.(3811-3813)cCt>cTt	p.P1271L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1271					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCACTCTCCTAAGGCCAAG	0.647000													15	42					0	0	0.002450	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggcfs	p.G246fs	NADK_ENST00000342348.5_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000492768.1_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													4	4	---	---	---	---					
EPHA8	2046	broad.mit.edu	37	1	22927210	22927212	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:22927210_22927212delCTC	ENST00000166244.3	+	14	2517_2519	c.2445_2447delCTC	c.(2443-2448)ttc>tt	p.FS815del		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	815	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCACCTTCTCCTCGGCCAGC	0.665													22	75	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167666869	167666872	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:167666869_167666872delAAAG	ENST00000367854.3	+	6	1339_1342	c.1008_1011delAAAG	c.(1006-1011)acfs	p.TK336fs	RCSD1_ENST00000537350.1_Frame_Shift_Del_p.TK306fs	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGGAGG	0.554													5	11	---	---	---	---					
FOSL2	2355	broad.mit.edu	37	2	28634937	28634938	+	Frame_Shift_Ins	INS	-	-	CCAG			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:28634937_28634938insCCAG	ENST00000264716.4	+	4	1466_1467	c.603_604insCCAG	c.(601-606)cccagcfs	p.S202fs	FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.S194fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.S163fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	202					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCCGATCGCCCCCAGCCCCTGG	0.644													11	75	---	---	---	---					
CLCN2	1181	broad.mit.edu	37	3	184079208	184079221	+	Frame_Shift_Del	DEL	GGTCTGCTCGTACT	GGTCTGCTCGTACT	-	rs143436017		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:184079208_184079221delGGTCTGCTCGTACT	ENST00000265593.4	-	1	218_231	c.47_60delAGTACGAGCAGACC	c.(46-60)cfs	p.QYEQT16fs	CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.QYEQT16fs|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.QYEQT16fs|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.QYEQT16fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CACTTACCAGGGTCTGCTCGTACTGCAGCGCCCG	0.692													9	56	---	---	---	---					
DDX21	9188	broad.mit.edu	37	10	70737400	70737400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:70737400delG	ENST00000354185.4	+	12	1956	c.1858delG	c.(1858-1860)gtfs	p.G620fs		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	620						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCATATTTCAGGTGCCACGTC	0.502													77	83	---	---	---	---					
KRT6A	3853	broad.mit.edu	37	12	52882219	52882220	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:52882219_52882220insT	ENST00000330722.6	-	7	1384_1385	c.1316_1317insA	c.(1315-1317)cgafs	p.R439fs		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	439	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCAGGTCCTGCTTGGCCTT	0.624													8	116	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709885	22709885	+	RNA	DEL	G	G	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:22709885delG	ENST00000314246.8	-	0	1069																											TATCTAATGTGGGGGGGGCTG	0.537													6	11	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45007631	45007632	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:45007631_45007632insA	ENST00000558401.1	+	2	148_149	c.78_79insA	c.(76-81)aattcafs	p.NS26fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Ins_p.NS26fs|B2M_ENST00000544417.1_Frame_Shift_Ins_p.NS26fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	26	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTACTCCAAAGATTCAGGTTTA	0.421													35	90	---	---	---	---					
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312													2	4	---	---	---	---					
CRYBA1	1411	broad.mit.edu	37	17	27581304	27581307	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:27581304_27581307delGAGA	ENST00000225387.3	+	6	586_589	c.585_588delGAGA	c.(583-588)tgfs	p.WR195fs		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	195	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAAACATTGGAGAGAGTGGGGCT	0.441													26	80	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	3	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92927775	92927775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:92927775delC	ENST00000373079.3	-	1	792	c.529delG	c.(529-531)tgfs	p.V177fs	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	177	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTATCCTGCACCTCCTCATCA	0.453													27	74	---	---	---	---					
DOCK11	139818	broad.mit.edu	37	X	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:117707777_117707778insT	ENST00000276204.6	+	12	1259_1260	c.1185_1186insT	c.(1183-1188)ccttttfs	p.PF395fs	DOCK11_ENST00000276202.7_Frame_Shift_Ins_p.PF395fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411													52	137	---	---	---	---