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
HECTD4	283450	broad.mit.edu	37	12	112690297	112690297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:112690297C>T	ENST00000550722.1	-	23	3440	c.3045G>A	c.(3043-3045)atG>atA	p.M1015I	HECTD4_ENST00000377560.5_Missense_Mutation_p.M989I|HECTD4_ENST00000430131.2_Missense_Mutation_p.M739I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGCCACTTCTCATTTCAAAGG	0.438000													14	94					0	0	0.002450	0	0
SYDE2	84144	broad.mit.edu	37	1	85648848	85648848	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85648848A>T	ENST00000341460.5	-	3	1526	c.1477T>A	c.(1477-1479)Ttg>Atg	p.L493M		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	493					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTCCCAATTCAGTACTA	0.328000													12	81					0	0	0.000978	0	0
TAF1	6872	broad.mit.edu	37	X	70607298	70607298	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:70607298G>A	ENST00000449580.1	+	15	2462	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	TAF1_ENST00000276072.3_Missense_Mutation_p.R825Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R804Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R825Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	804					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R804Q(1)|p.R825Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACGCATATTCGAGACTTTCTA	0.488000													8	69					0	0	0.003080	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217120	53217120	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:53217120C>G	ENST00000342657.3	+	7	1566	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.Q165E|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.Q165E	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	165	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						GATTGTCATTCAGAAATACCA	0.468000													7	63					0	0	0.001984	0	0
STRADB	55437	broad.mit.edu	37	2	202337702	202337702	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202337702C>T	ENST00000194530.3	+	5	583	c.218C>T	c.(217-219)tCt>tTt	p.S73F	STRADB_ENST00000392249.2_Missense_Mutation_p.S73F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	73	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AACTTGACTTCTGTCCATCTT	0.358000													10	79					0	0	0.006214	0	0
LRRN3	54674	broad.mit.edu	37	7	110763864	110763864	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:110763864C>T	ENST00000451085.1	+	4	2082	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L346F|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L346F|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	346						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGCAATGCTCTCAGTGCCCT	0.453000													16	71					0	0	0.006122	0	0
TTC13	79573	broad.mit.edu	37	1	231057232	231057232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:231057232C>G	ENST00000366661.4	-	16	1840	c.1833G>C	c.(1831-1833)atG>atC	p.M611I	TTC13_ENST00000414259.1_Missense_Mutation_p.M558I|TTC13_ENST00000366662.4_Missense_Mutation_p.M558I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	611							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAGGTATCTCATGTTGATCA	0.269000													3	29					0	0	0.004672	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580588	53580588	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:53580588G>A	ENST00000371494.4	-	3	400	c.273C>T	c.(271-273)ctC>ctT	p.L91L	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.L91L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	91						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACGCCACGGTGAGGACGCCCA	0.647000													6	19					0	0	0.001168	0	0
TBC1D4	9882	broad.mit.edu	37	13	75911119	75911119	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:75911119C>T	ENST00000377636.3	-	8	2015	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	TBC1D4_ENST00000377625.2_Missense_Mutation_p.D557N|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D557N	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	557						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCAGAATGTCAAGTTTGAAC	0.333000													8	42					0	0	0.004482	0	0
CAP2	10486	broad.mit.edu	37	6	17551730	17551730	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:17551730G>A	ENST00000229922.2	+	12	1777	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	CAP2_ENST00000493172.1_Silent_p.K155K|CAP2_ENST00000378990.2_Silent_p.K389K|CAP2_ENST00000465994.1_Silent_p.K351K|CAP2_ENST00000489374.1_Silent_p.K303K	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	415	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCATTAATAAGACAGAAGGTT	0.408000													10	66					0	0	0.006214	0	0
AKAP1	8165	broad.mit.edu	37	17	55183032	55183032	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:55183032C>T	ENST00000337714.3	+	2	440	c.207C>T	c.(205-207)tcC>tcT	p.S69S	AKAP1_ENST00000572557.1_Silent_p.S69S|AKAP1_ENST00000571629.1_Silent_p.S69S|AKAP1_ENST00000314126.3_Silent_p.S69S|AKAP1_ENST00000539273.1_Silent_p.S69S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	69					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTAGTGTCCACACCCCCCA	0.602000													10	45					0	0	0.008291	0	0
DNAH2	146754	broad.mit.edu	37	17	7695575	7695575	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:7695575G>A	ENST00000572933.1	+	46	8519	c.7059G>A	c.(7057-7059)acG>acA	p.T2353T	DNAH2_ENST00000389173.2_Silent_p.T2353T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2353					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTAGGACACGGTATATGAGT	0.532000													10	98					0	0	0.000978	0	0
SLC37A1	54020	broad.mit.edu	37	21	43974187	43974187	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:43974187G>A	ENST00000352133.2	+	10	1766	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SLC37A1_ENST00000398341.3_Missense_Mutation_p.E262K			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	262					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AAAAGGCTATGAGAATGGTAC	0.388000													4	20					0	0	0.000248	0	0
C4orf19	55286	broad.mit.edu	37	4	37592483	37592483	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:37592483C>T	ENST00000284437.6	+	3	984	c.806C>T	c.(805-807)tCa>tTa	p.S269L	C4orf19_ENST00000381980.4_Missense_Mutation_p.S269L|C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	269										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTGGTTGACTCAGGAAACAGG	0.522000													10	96					0	0	0.006214	0	0
KIAA0753	9851	broad.mit.edu	37	17	6483153	6483153	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:6483153C>G	ENST00000361413.3	-	19	3176	c.2818G>C	c.(2818-2820)Ggt>Cgt	p.G940R	KIAA0753_ENST00000589033.1_Missense_Mutation_p.G396R|KIAA0753_ENST00000572370.1_Missense_Mutation_p.G641R|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G641R	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	940						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCACAGCACCCAGAGCTTCA	0.493000													10	95					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761784	77761784	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:77761784G>A	ENST00000521891.2	+	8	4130	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1183N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1183N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1202N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAATAGTAGGGACCAAAGTCG	0.413000										HNSCC(33;0.089)			8	77					0	0	0.004482	0	0
FRYL	285527	broad.mit.edu	37	4	48542543	48542543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:48542543C>T	ENST00000537810.1	-	46	6726	c.6122G>A	c.(6121-6123)cGa>cAa	p.R2041Q	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.R2041Q|FRYL_ENST00000503238.1_Missense_Mutation_p.R2041Q			O94915	FRYL_HUMAN	FRY-like	2041					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R2041Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AATCTTCTCTCGACTCTCTGA	0.378000													13	49					0	0	0.002450	0	0
EXD1	161829	broad.mit.edu	37	15	41476416	41476416	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476416C>T	ENST00000314992.5	-	10	1448	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	EXD1_ENST00000458580.2_Missense_Mutation_p.E478K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTCTGGTCCTCTGACCCCTTT	0.413000													21	137					0	0	0.002299	0	0
WDR13	64743	broad.mit.edu	37	X	48458093	48458093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:48458093G>A	ENST00000218056.5	+	4	1016	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	171						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TGACCAGCACGTGGATGAGGC	0.572000													11	80					0	0	0.000978	0	0
ARID2	196528	broad.mit.edu	37	12	46233280	46233280	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46233280G>A	ENST00000334344.6	+	11	1670		c.e11+1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGCCCCAGGTTAGTGTTTT	0.373000			"""N, S, F"""		hepatocellular carcinoma								14	77					0	0	0.001855	0	0
BTK	695	broad.mit.edu	37	X	100608293	100608293	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100608293C>G	ENST00000308731.7	-	18	1960	c.1797G>C	c.(1795-1797)gaG>gaC	p.E599D	BTK_ENST00000372880.1_Missense_Mutation_p.E423D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	599	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGTAAATCTCTCATATGGCA	0.423000									Agammaglobulinemia, X-linked				18	160					0	0	0.004990	0	0
MICU1	10367	broad.mit.edu	37	10	74322720	74322720	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:74322720T>G	ENST00000398761.4	-	3	395	c.263A>C	c.(262-264)aAg>aCg	p.K88T	MICU1_ENST00000361114.5_Missense_Mutation_p.K88T|MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.K88T			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	88					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										ATCTGCAGTCTTTTTCTCATG	0.403000													3	24					0	0	0.004672	0	0
SERINC5	256987	broad.mit.edu	37	5	79473837	79473837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:79473837C>T	ENST00000507668.2	-	3	395	c.245G>A	c.(244-246)tGt>tAt	p.C82Y	SERINC5_ENST00000512721.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000512972.2_Missense_Mutation_p.C82Y|SERINC5_ENST00000509193.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	82					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CAGCTTCTCACAGGTGTCACC	0.398000													4	11					0	0	0.000248	0	0
RGPD3	653489	broad.mit.edu	37	2	107032306	107032306	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:107032306C>T	ENST00000409886.3	-	21	5151	c.5064_splice	c.e21+1	p.K1688_splice	RGPD3_ENST00000304514.7_Splice_Site_p.K1688_splice	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1688					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCTCACCTTAATTTGCT	0.438000													17	179					0	0	0.001882	0	0
MAML3	55534	broad.mit.edu	37	4	140811123	140811123	+	Silent	SNP	T	T	C	rs62344939		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	489	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547000													3	36					0	0	0.000248	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602131	138602131	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:138602131A>G	ENST00000440172.1	-	2	2289	c.2241T>C	c.(2239-2241)gcT>gcC	p.A747A	KIAA1549_ENST00000422774.1_Silent_p.A747A|KIAA1549_ENST00000242365.4_Silent_p.A697A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	747	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTCAATGAAAGCTGAGGTAA	0.473000			O	BRAF	pilocytic astrocytoma								7	38					0	0	0.001984	0	0
PPP4R4	57718	broad.mit.edu	37	14	94693666	94693666	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:94693666C>T	ENST00000328839.3	+	4	466	c.338C>T	c.(337-339)tCa>tTa	p.S113L	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000304338.3_Intron	NM_020958.2	NP_066009.2	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	0						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTATGGATCTCACATATGTTT	0.378000													5	32					0	0	0.000602	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44609918	44609918	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609918C>T	ENST00000273320.3	+	5	1233	c.804C>T	c.(802-804)gcC>gcT	p.A268A	ZKSCAN7_ENST00000431636.1_Silent_p.A268A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.A268A|ZKSCAN7_ENST00000341840.3_Silent_p.A268A	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATAGCATGGCCTCCTTGGGTA	0.403000													8	55					0	0	0.004482	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138238	32138238	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:32138238G>A	ENST00000395499.1	-	4	1053	c.474C>T	c.(472-474)gtC>gtT	p.V158V	AGPAT1_ENST00000395497.1_Silent_p.V158V|AGPAT1_ENST00000412465.2_Silent_p.V46V|AGPAT1_ENST00000395496.1_Silent_p.V158V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.V158V|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375107.3_Silent_p.V158V|AGPAT1_ENST00000336984.6_Silent_p.V158V			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	158					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCTCAGACATGACACTGATGG	0.592000													8	75					0	0	0.003080	0	0
MAPK9	5601	broad.mit.edu	37	5	179676105	179676105	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:179676105C>G	ENST00000452135.2	-	6	782	c.484G>C	c.(484-486)Gac>Cac	p.D162H	MAPK9_ENST00000343111.6_Missense_Mutation_p.D162H|MAPK9_ENST00000455781.1_Missense_Mutation_p.D162H|MAPK9_ENST00000347470.4_Missense_Mutation_p.D162H|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.D162H|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.D162H|MAPK9_ENST00000393360.3_Missense_Mutation_p.D162H			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	162	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGTGCAGTCTGATTTCACA	0.463000													12	96					0	0	0.000978	0	0
AP3D1	8943	broad.mit.edu	37	19	2121736	2121736	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:2121736C>T	ENST00000355272.6	-	12	1304	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	AP3D1_ENST00000356926.4_Silent_p.G275G|AP3D1_ENST00000345016.5_Silent_p.G366G|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.G197G	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	366					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCACCATCCCATAGAGCA	0.637000													8	57					0	0	0.003080	0	0
C17orf85	55421	broad.mit.edu	37	17	3724646	3724646	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:3724646C>T	ENST00000158149.3	-	10	952	c.56_splice	c.e10-1	p.W19_splice	C17orf85_ENST00000389005.4_Splice_Site_p.W299_splice			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	299							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATCTTCGCTTCCTGCAAGAAT	0.413000													8	82					0	0	0.003080	0	0
FAM83G	644815	broad.mit.edu	37	17	18874772	18874772	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:18874772G>A	ENST00000388995.6	-	6	2595	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S791F|FAM83G_ENST00000585154.2_Missense_Mutation_p.S791F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	791										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTTCGACTGAGACAGTTTGGA	0.632000													24	153					0	0	0.004656	0	0
DDAH1	23576	broad.mit.edu	37	1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85790448G>A	ENST00000284031.8	-	5	810	c.716C>T	c.(715-717)cCg>cTg	p.P239L	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473000													11	78					0	0	0.000978	0	0
NPAP1	23742	broad.mit.edu	37	15	24923550	24923550	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:24923550G>A	ENST00000329468.2	+	1	3010	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGGAAGGAGGAGTACATCCG	0.502000													12	98					0	0	0.000978	0	0
SUPT3H	8464	broad.mit.edu	37	6	44988309	44988309	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:44988309G>A	ENST00000371460.1	-	6	597	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	SUPT3H_ENST00000371459.1_Missense_Mutation_p.L83F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L83F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L94F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	165					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AAAAACAGAAGATCTTCAGGA	0.328000													4	32					0	0	0.000602	0	0
PARP4	143	broad.mit.edu	37	13	25049615	25049615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25049615C>T	ENST00000381989.3	-	15	2014	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	637	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATACCTGGGCTACAGTGTCT	0.458000													13	69					0	0	0.002450	0	0
NOTCH1	4851	broad.mit.edu	37	9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					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)		CAGAAACAGGGGTGTCTCCTC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0.004672	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493000													3	131					0	0	0.004672	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294045	28294045	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:28294045G>C	ENST00000414429.1	-	8	2022	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.H214Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H373Q					zinc finger and SCAN domain containing 31																		TCTCACCAGTGTGGACTCGGA	0.473000													25	232					0	0	0.002780	0	0
CEP63	80254	broad.mit.edu	37	3	134251719	134251719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:134251719G>A	ENST00000337090.3	+	5	591	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CEP63_ENST00000513612.2_Missense_Mutation_p.E140K|CEP63_ENST00000332047.5_Missense_Mutation_p.E140K|CEP63_ENST00000383229.3_Missense_Mutation_p.E140K|CEP63_ENST00000354446.3_Missense_Mutation_p.E140K|CEP63_ENST00000606977.1_Missense_Mutation_p.E140K			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	140					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGAAATTGAGAGGTTAAC	0.363000													9	22					0	0	0.004482	0	0
DOPEY1	23033	broad.mit.edu	37	6	83841951	83841951	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:83841951G>A	ENST00000349129.2	+	18	2933	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	DOPEY1_ENST00000237163.5_Silent_p.Q872Q|DOPEY1_ENST00000369739.3_Silent_p.Q882Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCATCACCAGAAGAGTGTGG	0.373000													5	82					0	0	0.000602	0	0
SOBP	55084	broad.mit.edu	37	6	107956508	107956508	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:107956508G>T	ENST00000317357.5	+	6	3119	c.2460G>T	c.(2458-2460)atG>atT	p.M820I	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	820							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCTGCGGATGCTGCCCAAGA	0.647000													18	122					9.16793e-09	1.87623e-08	0.004990	1	0
CD163	9332	broad.mit.edu	37	12	7639106	7639106	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:7639106A>C	ENST00000359156.4	-	10	2649	c.2447T>G	c.(2446-2448)gTt>gGt	p.V816G	CD163_ENST00000396620.3_Missense_Mutation_p.V849G|CD163_ENST00000541972.1_Missense_Mutation_p.V804G|CD163_ENST00000432237.2_Missense_Mutation_p.V816G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	816	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAGCAGATAACTCCCGCATC	0.443000													4	130					0	0	0.000602	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44609921	44609921	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609921C>T	ENST00000273320.3	+	5	1236	c.807C>T	c.(805-807)tcC>tcT	p.S269S	ZKSCAN7_ENST00000431636.1_Silent_p.S269S|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.S269S|ZKSCAN7_ENST00000341840.3_Silent_p.S269S	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GCATGGCCTCCTTGGGTAATG	0.398000													8	54					0	0	0.006214	0	0
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:11943309C>T	ENST00000304060.5	+	4	1482	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q440*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATAACCTTCAAAGTCATGA	0.398000													8	51					0	0	0.003080	0	0
PKLR	5313	broad.mit.edu	37	1	155264372	155264372	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:155264372C>T	ENST00000392414.3	-	6	886	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	PKLR_ENST00000342741.4_Missense_Mutation_p.R289Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	289					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.R289L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTGGCTTTCCGCACAAAGGA	0.627000													6	49					0	0	0.001984	0	0
NUP155	9631	broad.mit.edu	37	5	37327823	37327823	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37327823A>C	ENST00000231498.3	-	18	2135	c.1932T>G	c.(1930-1932)acT>acG	p.T644T	NUP155_ENST00000381843.2_Silent_p.T585T|NUP155_ENST00000513532.1_Silent_p.T644T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	644	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGCCTGAGTTGCTGGGT	0.413000													4	36					0	0	0.000248	0	0
ISM1	140862	broad.mit.edu	37	20	13280034	13280034	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr20:13280034C>T	ENST00000262487.3	+	6	1329	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	441	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTCCCAACAACGGACAGAAGT	0.577000													10	52					0	0	0.006214	0	0
WASH3P	374666	broad.mit.edu	37	15	102516411	102516411	+	RNA	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:102516411C>G	ENST00000557932.1	+	0	1359																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TCCATCCCTCCTCTGCCGCCA	0.662000													3	27					0	0	0.000248	0	0
DCP1B	196513	broad.mit.edu	37	12	2061959	2061959	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:2061959T>G	ENST00000280665.6	-	7	1226	c.1147A>C	c.(1147-1149)Aac>Cac	p.N383H	DCP1B_ENST00000540622.1_Missense_Mutation_p.N257H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.N281H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	383					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCTGCGGTTCAGGGCAGCT	0.572000													19	67					0	0	0.001523	0	0
OR8J3	81168	broad.mit.edu	37	11	55904603	55904603	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:55904603T>C	ENST00000301529.1	-	1	591	c.592A>G	c.(592-594)Ata>Gta	p.I198V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATAAAGACTATTGTTTCTGGT	0.318000													12	81					0	0	0.000978	0	0
PTH2R	5746	broad.mit.edu	37	2	209308254	209308254	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:209308254T>C	ENST00000272847.2	+	6	904	c.691T>C	c.(691-693)Tca>Cca	p.S231P	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	231						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTGGACAAATCACAATATGT	0.363000													5	50					0	0	0.001984	0	0
PRSS3	5646	broad.mit.edu	37	9	33798053	33798053	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:33798053G>A	ENST00000361005.5	+	3	598	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.G157S|PRSS3_ENST00000379405.3_Missense_Mutation_p.G143S|PRSS3_ENST00000429677.3_Missense_Mutation_p.G136S	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	200	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCATCTCCGGCTGGGGCAA	0.567000													5	102					0	0	0.000602	0	0
PCBP3	54039	broad.mit.edu	37	21	47360032	47360032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:47360032C>T	ENST00000400314.1	+	15	1336	c.998C>T	c.(997-999)aCg>aTg	p.T333M	PCBP3_ENST00000449640.1_Missense_Mutation_p.T333M|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.T323M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T307M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T332M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T313M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	333	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCCAACGCCACGGAAGGGTCC	0.527000													5	64					0	0	0.001168	0	0
UQCC2	84300	broad.mit.edu	37	6	33679329	33679329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:33679329G>A	ENST00000607484.1	-	1	175	c.135C>T	c.(133-135)acC>acT	p.T45T	MNF1_ENST00000374214.3_Silent_p.T45T	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		45																	CGGTCACCTGGGTATTCTCTC	0.687000													7	43					0	0	0.001984	0	0
FANCG	2189	broad.mit.edu	37	9	35074164	35074164	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:35074164C>T	ENST00000378643.3	-	14	2301	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	604					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGTCACGATCAGAGGGACGG	0.517000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					7	57					0	0	0.001984	0	0
PAH	5053	broad.mit.edu	37	12	103288646	103288646	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:103288646C>T	ENST00000553106.1	-	3	691	c.219G>A	c.(217-219)aaG>aaA	p.K73K	PAH_ENST00000307000.2_Silent_p.K68K|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	73	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCATCTTTCTTTAAACGAG	0.443000													14	57					0	0	0.002450	0	0
GREB1	9687	broad.mit.edu	37	2	11758602	11758602	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:11758602G>A	ENST00000381486.2	+	22	3901	c.3601G>A	c.(3601-3603)Gac>Aac	p.D1201N	GREB1_ENST00000234142.5_Missense_Mutation_p.D1201N|GREB1_ENST00000396123.1_Missense_Mutation_p.D199N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1201	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCCCAGCCCGACTGTAGCCT	0.692000													8	18					0	0	0.006214	0	0
CPXM2	119587	broad.mit.edu	37	10	125530458	125530458	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:125530458G>A	ENST00000241305.3	-	8	1230	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	359					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTGATCTGAGATCTCCAC	0.478000													38	258					0	0	0.003755	0	0
OR1C1	26188	broad.mit.edu	37	1	247921358	247921358	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:247921358C>A	ENST00000408896.2	-	1	624	c.351G>T	c.(349-351)gtG>gtT	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488000													6	53					5.9392e-07	1.19874e-06	0.001168	1	0
AKAP17A	8227	broad.mit.edu	37	X	1720159	1720159	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:1720159G>A	ENST00000313871.3	+	5	1956	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	587	Arg-rich.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGCAAGGGCCGGGGCCGGGCC	0.687000													4	33					0	0	0.000248	0	0
SPSB3	90864	broad.mit.edu	37	16	1831369	1831369	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:1831369G>A	ENST00000566339.1	-	2	446	c.116C>T	c.(115-117)tCt>tTt	p.S39F	SPSB3_ENST00000301717.4_Missense_Mutation_p.S39F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	39					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGCCCATCAGAGTCGTAGCC	0.642000													6	59					0	0	0.003080	0	0
MTMR8	55613	broad.mit.edu	37	X	63551561	63551561	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:63551561T>A	ENST00000374852.3	-	11	1295	c.1228A>T	c.(1228-1230)Atg>Ttg	p.M410L	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	410	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACTGTTCCATTAATTGCCAG	0.438000													4	39					0	0	0.000248	0	0
SRCAP	10847	broad.mit.edu	37	16	30723672	30723672	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:30723672G>A	ENST00000262518.4	+	13	2290	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	SRCAP_ENST00000395059.2_Silent_p.K635K|SRCAP_ENST00000344771.4_Silent_p.K635K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	635	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTATGAGAAGAAGCTTAATG	0.532000													11	95					0	0	0.001368	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166069	140166069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140166069G>A	ENST00000504120.2	+	1	194	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65Q	NM_018900.2	NP_061723.1												p.R65L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTTCCGGGTGGCGTCC	0.587000													17	105					0	0	0.004990	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	42					0	0	0.003080	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367220	105367220	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:105367220T>G	ENST00000297581.2	+	3	1194	c.1145T>G	c.(1144-1146)gTt>gGt	p.V382G	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	382					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCTCTCAGTGTTATTCTTTTG	0.403000													3	77					0	0	0.004672	0	0
GALNT6	11226	broad.mit.edu	37	12	51752036	51752036	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51752036C>A	ENST00000543196.2	-	8	1583	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	GALNT6_ENST00000356317.3_Missense_Mutation_p.G460C			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	460					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAAATGTCACCGAAGGATTTC	0.473000													10	89					2.80697e-09	5.77135e-09	0.000978	1	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			5	40					0	0	0.000602	0	0
GLI2	2736	broad.mit.edu	37	2	121748215	121748215	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:121748215C>T	ENST00000452319.1	+	14	4785	c.4725C>T	c.(4723-4725)ctC>ctT	p.L1575L	GLI2_ENST00000361492.4_Silent_p.L1575L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1575					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCACCAGCCTCGCCGAGGAGA	0.647000													14	104					0	0	0.002450	0	0
FAM73A	374986	broad.mit.edu	37	1	78325024	78325024	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:78325024G>C	ENST00000370791.3	+	10	1173	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	FAM73A_ENST00000443751.2_Missense_Mutation_p.D343H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	381						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTGCCTAGGAGACAGTGATTT	0.383000													8	55					0	0	0.003080	0	0
SOX13	9580	broad.mit.edu	37	1	204085730	204085730	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204085730G>A	ENST00000367204.1	+	5	623	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	172					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCCCACTCGGAGCAGAAGAA	0.597000													7	77					0	0	0.001984	0	0
FBXO11	80204	broad.mit.edu	37	2	48035487	48035487	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:48035487C>G	ENST00000403359.3	-	22	2707	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	FBXO11_ENST00000402508.1_Missense_Mutation_p.E795Q|FBXO11_ENST00000316377.4_Missense_Mutation_p.E795Q|FBXO11_ENST00000405808.1_Missense_Mutation_p.E33Q|FBXO11_ENST00000434523.2_Missense_Mutation_p.E303Q	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	879					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAATAAACTCTACATCATGT	0.353000			"""Mis, F, D"""		DLBCL								5	56					0	0	0.000602	0	0
DHX38	9785	broad.mit.edu	37	16	72137934	72137934	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:72137934C>T	ENST00000268482.3	+	14	2423	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577000													9	87					0	0	0.004482	0	0
KCNC2	3747	broad.mit.edu	37	12	75601707	75601707	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:75601707G>A	ENST00000549446.1	-	2	737	c.57C>T	c.(55-57)caC>caT	p.H19H	KCNC2_ENST00000341669.3_Silent_p.H19H|KCNC2_ENST00000298972.1_Silent_p.H19H|KCNC2_ENST00000350228.2_Silent_p.H19H|KCNC2_ENST00000393288.2_Silent_p.H19H|KCNC2_ENST00000548513.1_Silent_p.H19H|KCNC2_ENST00000550433.1_Silent_p.H19H|KCNC2_ENST00000540018.1_Silent_p.H19H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	19					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTAGGTTTCGTGCCGGGTGC	0.632000													5	65					0	0	0.000602	0	0
PAPOLA	10914	broad.mit.edu	37	14	96994296	96994296	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:96994296G>A	ENST00000216277.8	+	6	668	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E150K|PAPOLA_ENST00000557320.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000557471.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000554130.1_3'UTR	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	150					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATAGGCTGTTGAAGAGGCATT	0.353000													24	100					0	0	0.005443	0	0
KRT27	342574	broad.mit.edu	37	17	38933275	38933275	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:38933275C>G	ENST00000301656.3	-	8	1396	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	452	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGTTCATTCTTGTTGTTGA	0.433000													14	55					0	0	0.002450	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4668097	4668097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:4668097C>T	ENST00000228843.9	+	10	1047	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	RAD51AP1_ENST00000352618.4_Missense_Mutation_p.R316C|RAD51AP1_ENST00000544927.1_3'UTR|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.R214C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.R283C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	333	Interaction with RAD51.				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGAGTCTCCGCCTTGGCTT	0.498000													8	89					0	0	0.003080	0	0
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537000													5	52					3.59834e-05	7.19667e-05	0.001168	1	0
AGPAT5	55326	broad.mit.edu	37	8	6566210	6566210	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:6566210C>G	ENST00000285518.6	+	1	333	c.21C>G	c.(19-21)ctC>ctG	p.L7L		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	7					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CCCTGGTGCTCCACACGTACT	0.726000											OREG0007035	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	23					0	0	0.004672	0	0
ARID2	196528	broad.mit.edu	37	12	46285669	46285669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46285669C>T	ENST00000334344.6	+	17	5201	c.5029C>T	c.(5029-5031)Cga>Tga	p.R1677*	ARID2_ENST00000457135.1_Nonsense_Mutation_p.R285*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1528*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1287*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1677					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCTTTTCAGCGACAGCGGTT	0.413000			"""N, S, F"""		hepatocellular carcinoma								9	92					0	0	0.004482	0	0
ABCC6	368	broad.mit.edu	37	16	16302657	16302657	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:16302657C>T	ENST00000205557.7	-	7	751	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	241					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAGTTTTCTCTCCCAAGCGA	0.552000													6	58					0	0	0.004482	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917735	97917735	+	RNA	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:97917735T>C	ENST00000534948.1	+	0	2513							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGTATCTTCTTTGTCAGCAA	0.338000													7	72					0	0	0.001984	0	0
IGHA2	3494	broad.mit.edu	37	14	106053596	106053596	+	RNA	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:106053596G>A	ENST00000390539.2	-	0	700																											GCACGTCAGCGTCACCAGCTC	0.667000													7	62					0	0	0.001984	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226904	79226904	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:79226904C>T	ENST00000374759.3	-	12	1808	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	SLC38A10_ENST00000288439.5_Silent_p.P475P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	475					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTGCCTCCTCCGGTGCCTCCT	0.682000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	118					0	0	0.001855	0	0
KCTD1	284252	broad.mit.edu	37	18	24081097	24081097	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:24081097C>G	ENST00000417602.1	-	2	1926	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H	KCTD1_ENST00000580059.1_Missense_Mutation_p.D35H|KCTD1_ENST00000579973.1_Missense_Mutation_p.D35H|KCTD1_ENST00000408011.3_Missense_Mutation_p.D35H|KCTD1_ENST00000317932.7_Missense_Mutation_p.D35H	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	35					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCGCCCACATCAATGTGGACA	0.507000													6	109					0	0	0.001168	0	0
CIAO1	9391	broad.mit.edu	37	2	96933588	96933588	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96933588G>A	ENST00000488633.1	+	4	634	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	139					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TGAAGAGGATGAGTATGAATG	0.537000													5	64					0	0	0.000602	0	0
KRT83	3889	broad.mit.edu	37	12	52709762	52709762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:52709762C>T	ENST00000293670.3	-	7	1239	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	393	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCCCTGATCAGG	0.647000													9	123					0	0	0.004482	0	0
ADCY4	196883	broad.mit.edu	37	14	24795367	24795367	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:24795367G>A	ENST00000310677.4	-	13	1686	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	ADCY4_ENST00000554068.2_Missense_Mutation_p.R525C|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.R525C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGGGTACGGCTCCTGCAC	0.587000													8	48					0	0	0.004482	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448552	91448552	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:91448552C>T	ENST00000360468.3	+	2	222	c.204C>T	c.(202-204)atC>atT	p.I68I	MAN2A2_ENST00000559717.1_Silent_p.I68I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	68					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGATTATCAGCCATATCA	0.552000													11	107					0	0	0.000978	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677063	37677063	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:37677063A>C	ENST00000532828.2	-	5	1627	c.1376T>G	c.(1375-1377)aTt>aGt	p.I459S	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.I404S|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.I47S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTGTGTGAATTCGTTTATG	0.373000													13	119					0	0	0.001855	0	0
OR4L1	122742	broad.mit.edu	37	14	20529070	20529070	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20529070G>A	ENST00000315683.1	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTATACCCTGAGAAATAAGA	0.328000													12	71					0	0	0.001368	0	0
OR4K5	79317	broad.mit.edu	37	14	20389087	20389087	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20389087A>C	ENST00000315915.4	+	1	347	c.322A>C	c.(322-324)Act>Cct	p.T108P		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCTTTTTACTGGAGGGGA	0.428000													18	241					0	0	0.006122	0	0
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423000													34	121					0	0	0.004289	0	0
POU6F1	5463	broad.mit.edu	37	12	51584078	51584078	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51584078G>A	ENST00000389243.4	-	11	1797	c.858C>T	c.(856-858)cgC>cgT	p.R286R	POU6F1_ENST00000333640.10_Silent_p.R286R|POU6F1_ENST00000550824.1_Silent_p.R286R			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	286					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGAGCGTCTGGCGCCGATTGC	0.552000													11	71					0	0	0.000978	0	0
PLCG2	5336	broad.mit.edu	37	16	81929467	81929467	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:81929467G>A	ENST00000359376.3	+	13	1342	c.1128G>A	c.(1126-1128)cgG>cgA	p.R376R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	376	PI-PLC X-box.				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						GCTGGACGCGGACTACCAAGA	0.557000													16	96					0	0	0.004007	0	0
CRAT	1384	broad.mit.edu	37	9	131864310	131864310	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:131864310A>G	ENST00000318080.2	-	6	951	c.657T>C	c.(655-657)agT>agC	p.S219S	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	219					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTGTCCCGTCACTGTGGTACA	0.572000													5	31					0	0	0.001168	0	0
F8	2157	broad.mit.edu	37	X	154128150	154128150	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154128150A>C	ENST00000360256.4	-	21	6464	c.6264T>G	c.(6262-6264)tcT>tcG	p.S2088S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2088	F5/8 type C 1.		S -> F (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTTGATCCAAGAAAAGGGCT	0.413000													4	34					0	0	0.000602	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683624	71683624	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:71683624G>A	ENST00000393524.2	-	17	3673	c.2940C>T	c.(2938-2940)ctC>ctT	p.L980L	PHLPP2_ENST00000356272.3_Silent_p.L1047L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Silent_p.L1047L|PHLPP2_ENST00000567016.1_Silent_p.L1082L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1047	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGGGAGGGTGAGCCCATTCA	0.512000													19	153					0	0	0.007413	0	0
LRP2	4036	broad.mit.edu	37	2	170050337	170050337	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:170050337C>T	ENST00000263816.3	-	47	9049	c.8764G>A	c.(8764-8766)Gaa>Aaa	p.E2922K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2922	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGATCCATTCGCTTGGGATG	0.458000													18	73					0	0	0.008871	0	0
SLIT2	9353	broad.mit.edu	37	4	20611715	20611715	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:20611715G>T	ENST00000504154.1	+	34	4024	c.3772G>T	c.(3772-3774)Ggt>Tgt	p.G1258C	SLIT2_ENST00000273739.5_Missense_Mutation_p.G1271C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1254C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1250C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1258	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCCGTGGATGGTGGGAACCC	0.433000													8	54					0.00307968	0.00610387	0.003080	1	0
PNPLA3	80339	broad.mit.edu	37	22	44340652	44340652	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:44340652G>A	ENST00000216180.3	+	8	1367	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	PNPLA3_ENST00000423180.2_Silent_p.L394L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	398					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCGAGTGCTGATGTGTCTGC	0.562000													15	85					0	0	0.004007	0	0
WDR70	55100	broad.mit.edu	37	5	37605304	37605304	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37605304G>A	ENST00000265107.4	+	10	1212	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	WDR70_ENST00000504564.1_Silent_p.Q352Q|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	352										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCCTGCCAGAATGGAAGCA	0.413000													7	34					0	0	0.001984	0	0
MARCH4	57574	broad.mit.edu	37	2	217124235	217124235	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:217124235G>A	ENST00000273067.4	-	4	2799	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	345						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCGAGGAGGGGATATTGGCC	0.632000													5	29					0	0	0.000602	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751849	140751849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140751849C>T	ENST00000576222.1	+	1	2019	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGTACCTTGGG	0.662000													11	98					0	0	0.008291	0	0
ELP3	55140	broad.mit.edu	37	8	27995259	27995259	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:27995259C>T	ENST00000256398.8	+	10	1328	c.951C>T	c.(949-951)ctC>ctT	p.L317L	ELP3_ENST00000521015.1_Silent_p.L303L|ELP3_ENST00000542181.1_Silent_p.L188L|ELP3_ENST00000380353.4_Silent_p.L225L|ELP3_ENST00000524103.1_Silent_p.L245L|ELP3_ENST00000537665.1_Silent_p.L198L	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	317					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGCTGAAACTCTATCCTACCC	0.458000													6	72					0	0	0.001984	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048479	22048479	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:22048479A>C	ENST00000376980.3	-	11	1506	c.1216T>G	c.(1216-1218)Ttg>Gtg	p.L406V	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	406					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCATCGGGCAAGGTGGTGGCC	0.587000													9	51					0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187628809	187628809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:187628809G>A	ENST00000441802.2	-	2	2382	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	725	Cadherin 6.				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						TCCTTTACCTGAATACCAGTC	0.443000										HNSCC(5;0.00058)			9	45					0	0	0.004482	0	0
XIRP1	165904	broad.mit.edu	37	3	39230363	39230363	+	Silent	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39230363T>G	ENST00000340369.3	-	2	802	c.574A>C	c.(574-576)Agg>Cgg	p.R192R	XIRP1_ENST00000396251.1_Silent_p.R192R|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	192							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGAGCATCCTGGTACCCTGC	0.632000													7	75					0	0	0.001984	0	0
ALDOB	229	broad.mit.edu	37	9	104187258	104187258	+	Missense_Mutation	SNP	A	A	C	rs118204425		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:104187258A>C	ENST00000374855.4	-	8	990	c.866T>G	c.(865-867)cTt>cGt	p.L289R		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	289					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TAGAGGGCAAAGGTTGATAGC	0.522000													3	66					0	0	0.000248	0	0
NSD1	64324	broad.mit.edu	37	5	176715829	176715829	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:176715829T>G	ENST00000439151.2	+	21	6206	c.6161T>G	c.(6160-6162)cTt>cGt	p.L2054R	NSD1_ENST00000361032.4_Missense_Mutation_p.L1951R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1785R|NSD1_ENST00000347982.4_Missense_Mutation_p.L1785R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2054	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCACTGAACTTACCTTCAAC	0.393000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	86					0	0	0.000602	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269980	150269980	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:150269980G>C	ENST00000255945.2	+	3	997	c.822G>C	c.(820-822)aaG>aaC	p.K274N	GIMAP4_ENST00000461940.1_Missense_Mutation_p.K288N|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	274							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGGAAAAGAGAAAGAAGC	0.463000													3	20					0	0	0.004672	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													6	84					1.06961e-07	2.1688e-07	0.003080	1	0
KAAG1	353219	broad.mit.edu	37	6	24357946	24357946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:24357946C>T	ENST00000274766.1	+	1	816	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	DCDC2_ENST00000378454.3_Silent_p.L11L	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	27					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						CGGGCTGAGACAGGTGGCTGG	0.687000													11	64					0	0	0.008291	0	0
OR8H1	219469	broad.mit.edu	37	11	56058468	56058468	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:56058468T>G	ENST00000313022.2	-	1	98	c.71A>C	c.(70-72)cAg>cCg	p.Q24P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGGGCCATCTGGACCTCTTC	0.423000													8	96					0	0	0.004482	0	0
GABRB3	2562	broad.mit.edu	37	15	26806250	26806250	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:26806250G>C	ENST00000541819.2	-	9	1179	c.1077C>G	c.(1075-1077)gtC>gtG	p.V359V	GABRB3_ENST00000400188.3_Silent_p.V232V|GABRB3_ENST00000299267.4_Silent_p.V303V|GABRB3_ENST00000545868.1_Silent_p.V218V|GABRB3_ENST00000311550.5_Silent_p.V303V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	303					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAATGGCTTTGACATAGGGGA	0.478000													13	94					0	0	0.004990	0	0
FREM2	341640	broad.mit.edu	37	13	39264178	39264178	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:39264178A>G	ENST00000280481.7	+	1	2913	c.2697A>G	c.(2695-2697)cgA>cgG	p.R899R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	899					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGGGCCGAGTTTCCTATG	0.512000													4	36					0	0	0.000248	0	0
DSG1	1828	broad.mit.edu	37	18	28914090	28914090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:28914090C>G	ENST00000257192.4	+	8	1142	c.930C>G	c.(928-930)atC>atG	p.I310M		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	310	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTCTTTATCTCTGGAAATG	0.294000													9	71					0	0	0.004482	0	0
GPR151	134391	broad.mit.edu	37	5	145895392	145895392	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:145895392T>C	ENST00000311104.2	-	1	361	c.285A>G	c.(283-285)cgA>cgG	p.R95R		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTAGCTCGGATAGGTG	0.502000													11	68					0	0	0.001368	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665380	90665380	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:90665380T>A	ENST00000371927.3	+	3	1169	c.211T>A	c.(211-213)Ttg>Atg	p.L71M	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.L71M|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L71M			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	71							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAGGAAATTTGGAAAATGC	0.338000													9	43					0	0	0.008291	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													4	95					0	0	0.000248	0	0
IL27RA	9466	broad.mit.edu	37	19	14161619	14161619	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:14161619C>A	ENST00000263379.2	+	11	1577	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	484	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTTGGGGTCCCTGTGAGCTGT	0.592000													4	33					0.000602214	0.00119898	0.000602	1	0
NOX1	27035	broad.mit.edu	37	X	100098950	100098950	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100098950T>G	ENST00000372966.3	-	13	1891	c.1686A>C	c.(1684-1686)gaA>gaC	p.E562D	NOX1_ENST00000217885.5_Missense_Mutation_p.E513D|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E525D	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	562					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCAAAAATTTTCTTTGTTGA	0.408000													3	32					0	0	0.004672	0	0
LIPA	3988	broad.mit.edu	37	10	91005441	91005441	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:91005441G>C	ENST00000336233.5	-	3	543	c.221C>G	c.(220-222)tCt>tGt	p.S74C	LIPA_ENST00000456827.1_Missense_Mutation_p.S74C|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	74					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACCTTTGTCAGAATGGTTCTT	0.383000													11	91					0	0	0.008291	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926538	22926538	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22926538C>G	ENST00000261374.3	+	2	1193	c.759C>G	c.(757-759)taC>taG	p.Y253*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	253						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCGGCATGTACGTGCTGCACC	0.632000													13	134					0	0	0.001855	0	0
MTA1	9112	broad.mit.edu	37	14	105916417	105916417	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105916417G>A	ENST00000331320.7	+	5	478	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MTA1_ENST00000406191.1_Silent_p.E88E|MTA1_ENST00000405646.1_Silent_p.E71E	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	88	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGGAAATGGAGAACCCGGAAA	0.627000													10	66					0	0	0.006214	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618130	156618130	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:156618130A>G	ENST00000296518.7	+	3	320	c.111A>G	c.(109-111)tcA>tcG	p.S37S	GUCY1A3_ENST00000511108.1_Silent_p.S37S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Silent_p.S37S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.S37S|GUCY1A3_ENST00000513574.1_Silent_p.S37S|GUCY1A3_ENST00000455639.2_Silent_p.S37S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	37					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGGAAGCTCAGAGAGCTGCA	0.493000													6	51					0	0	0.001168	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307506	39307506	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39307506G>A	ENST00000541347.1	-	2	734	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CX3CR1_ENST00000542107.1_Silent_p.F165F|CX3CR1_ENST00000358309.3_Silent_p.F197F|CX3CR1_ENST00000399220.2_Silent_p.F165F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	165					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGAACATGAACTGGGGTG	0.547000													13	99					0	0	0.001368	0	0
BCS1L	617	broad.mit.edu	37	2	219527683	219527683	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:219527683G>A	ENST00000431802.1	+	7	1666	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BCS1L_ENST00000439945.1_Missense_Mutation_p.E323K|BCS1L_ENST00000412366.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392109.1_Missense_Mutation_p.E323K|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392110.2_Missense_Mutation_p.E323K|BCS1L_ENST00000359273.3_Missense_Mutation_p.E323K|BCS1L_ENST00000392111.2_Missense_Mutation_p.E323K			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	323					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCACCGAGGCCCGCAT	0.567000													14	100					0	0	0.001855	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696341	153696341	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696341G>A	ENST00000369682.3	+	21	3992	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1273					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGCAAGGAAGGTGCCTG	0.642000													13	55					0	0	0.001855	0	0
NHLRC1	378884	broad.mit.edu	37	6	18121917	18121917	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18121917C>T	ENST00000340650.3	-	1	934	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	307					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)			CAAAGGTATCCACTTGGCCGA	0.547000													16	61					0	0	0.004007	0	0
HLA-A	3105	broad.mit.edu	37	6	29910405	29910405	+	Splice_Site	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:29910405T>G	ENST00000396634.1	+	3	414		c.e3+2		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						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						CCTGGGCGGGTGAGTGCGGGG	0.736000									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)			11	45					0	0	0.000978	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744823	135744823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:135744823G>A	ENST00000375845.3	-	7	1649	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S427L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S557L|MAP3K19_ENST00000392917.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTTGGTCTTTGAATCCAACTT	0.368000													9	79					0	0	0.004482	0	0
CAPN13	92291	broad.mit.edu	37	2	30961324	30961324	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:30961324C>T	ENST00000295055.8	-	16	1713		c.e16-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCCAGCCTCTGATCCAAAC	0.527000													3	16					0	0	0.004672	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388711	37388711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:37388711C>T	ENST00000361924.2	+	21	6874	c.6500C>T	c.(6499-6501)tCa>tTa	p.S2167L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.S2182L|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2167					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGGATGTCTCACTCTTTGGA	0.343000													6	61					0	0	0.001168	0	0
NMB	4828	broad.mit.edu	37	15	85201312	85201312	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:85201312G>A	ENST00000394588.3	-	1	482	c.72C>T	c.(70-72)gtC>gtT	p.V24V	NMB_ENST00000360476.3_Silent_p.V24V	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	24					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		TGAGCGGGGCGACGCCGGCAG	0.726000													5	17					0	0	0.000602	0	0
HTR1E	3354	broad.mit.edu	37	6	87725377	87725377	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87725377T>C	ENST00000305344.4	+	2	1028	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P	HTR1E_ENST00000369584.1_Missense_Mutation_p.S109P	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	109					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCACCTGCTCCATCCTCCA	0.562000													10	89					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76539977	76539977	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:76539977C>T	ENST00000389840.5	-	17	2618	c.2494G>A	c.(2494-2496)Gtc>Atc	p.V832I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V832I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATCCCTGACTGCTGCGTAG	0.498000													28	196					0	0	0.001786	0	0
OR10H4	126541	broad.mit.edu	37	19	16060277	16060277	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:16060277T>G	ENST00000322107.1	+	1	460	c.460T>G	c.(460-462)Tca>Gca	p.S154A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGCTGGTGGCTCAGTCATGGG	0.512000													20	112					0	0	0.007413	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419910	5419910	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:5419910C>G	ENST00000540638.2	-	12	1739	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E454Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E454Q|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000341928.2_Intron			Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	446	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTATATTTCATGGTTTTCA	0.373000													10	78					0	0	0.006214	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	16					0	0	0.004672	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608430	112608430	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:112608430T>C	ENST00000341068.3	-	14	2345	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCCGAGGCATTGTGTTGGAC	0.438000													8	33					0	0	0.003080	0	0
AXIN2	8313	broad.mit.edu	37	17	63533163	63533163	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:63533163G>A	ENST00000307078.5	-	7	2044	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	577				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTTTGGGCAAGGTACTGCCTC	0.652000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	19					0	0	0.000602	0	0
AGXT2	64902	broad.mit.edu	37	5	35037140	35037140	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:35037140G>A	ENST00000231420.6	-	4	593	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	131					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACAGGCGGCCGAGCTGCTTTT	0.532000													10	59					0	0	0.000978	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128556	197128556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:197128556C>T	ENST00000367405.4	-	10	2731	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGTAATGTTCCAAGATAAGA	0.373000													15	89					0	0	0.002450	0	0
TAF1L	138474	broad.mit.edu	37	9	32633618	32633618	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32633618A>C	ENST00000242310.4	-	1	2049	c.1960T>G	c.(1960-1962)Tca>Gca	p.S654A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	654					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTGGACTGAATGGGGACCT	0.498000													5	136					0	0	0.000602	0	0
SRSF7	6432	broad.mit.edu	37	2	38976747	38976747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:38976747C>T	ENST00000313117.6	-	3	547	c.310G>A	c.(310-312)Gat>Aat	p.D104N	SRSF7_ENST00000409276.1_Missense_Mutation_p.D104N|SRSF7_ENST00000446327.2_Missense_Mutation_p.D104N	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	104					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						TAGCATCTATCATTTGGATCA	0.463000													13	54					0	0	0.002450	0	0
PDCD11	22984	broad.mit.edu	37	10	105205279	105205279	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:105205279G>A	ENST00000369797.3	+	36	5683	c.5589G>A	c.(5587-5589)gaG>gaA	p.E1863E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1863					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTATGTGGAGGCCAAGAGCT	0.597000													7	51					0	0	0.001984	0	0
ORC6	23594	broad.mit.edu	37	16	46726320	46726320	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:46726320G>C	ENST00000566860.1	+	2	362	c.75G>C	c.(73-75)ttG>ttC	p.L25F	ORC6_ENST00000568364.2_Missense_Mutation_p.L74F|ORC6_ENST00000219097.2_Missense_Mutation_p.L74F			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	74					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						TTTCTGGTTTGAACAAGGAGA	0.323000													11	69					0	0	0.008291	0	0
OSBP2	23762	broad.mit.edu	37	22	31285493	31285493	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:31285493C>T	ENST00000332585.6	+	7	1597	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	OSBP2_ENST00000535268.1_Missense_Mutation_p.S42L|OSBP2_ENST00000407373.1_Missense_Mutation_p.S325L|OSBP2_ENST00000446658.2_Missense_Mutation_p.S497L|OSBP2_ENST00000437268.2_Missense_Mutation_p.S240L|OSBP2_ENST00000403222.3_Missense_Mutation_p.S332L|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.S131L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	498					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GATGGTGCCTCGCTCGTGCCC	0.577000													18	178					0	0	0.007413	0	0
SOX14	8403	broad.mit.edu	37	3	137483941	137483941	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:137483941C>G	ENST00000306087.1	+	1	363	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	105					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.L105L(1)		large_intestine(2)|lung(12)	14						CGGACCCGCTCAAGGCGGCTG	0.687000													7	39					0	0	0.004482	0	0
GPR123	84435	broad.mit.edu	37	10	134942326	134942326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:134942326G>A	ENST00000607359.1	+	16	3151	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N	GPR123_ENST00000392606.2_Missense_Mutation_p.D235N|GPR123_ENST00000392607.3_Missense_Mutation_p.D332N			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCGCACTTGACGCCAACGG	0.731000													8	37					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179481235	179481235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179481235G>A	ENST00000589042.1	-	257	48507	c.48283C>T	c.(48283-48285)Cga>Tga	p.R16095*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7155*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7222*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14454*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13527*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7030*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14454	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACTTCTCGTTTTTCAACA	0.433000													38	115					0	0	0.006230	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122747	18122747	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18122747C>G	ENST00000340650.3	-	1	104	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	31					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)			CCAAACTTCTCAAAGCACACC	0.706000													7	35					0	0	0.001984	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039926	36039926	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:36039926C>G	ENST00000258840.6	-	39	6406	c.6016G>C	c.(6016-6018)Gat>Cat	p.D2006H	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1972H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1959H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1959H			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1959	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAGCACCATCAAAAAGGGGA	0.363000													3	24					0	0	0.004672	0	0
DDX26B	203522	broad.mit.edu	37	X	134690127	134690127	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:134690127T>G	ENST00000370752.4	+	9	1428	c.1094T>G	c.(1093-1095)cTt>cGt	p.L365R	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	365										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TACAATGAACTTGGATATCCA	0.348000													7	95					0	0	0.001984	0	0
PHIP	55023	broad.mit.edu	37	6	79668289	79668289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:79668289G>A	ENST00000275034.4	-	32	3852	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1229	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTATATATCGAACTTCCCAC	0.313000													6	42					0	0	0.001168	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	93					0	0	0.001984	0	0
ERAP2	64167	broad.mit.edu	37	5	96239261	96239261	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:96239261T>C	ENST00000437043.3	+	13	2720	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.V625A	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	670					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)		TTTCAGCTAGTTGGGTAAGGC	0.403000													4	38					0	0	0.000602	0	0
CDH20	28316	broad.mit.edu	37	18	59221475	59221475	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:59221475C>A	ENST00000262717.4	+	12	2351	c.1953C>A	c.(1951-1953)atC>atA	p.I651I	CDH20_ENST00000536675.2_Silent_p.I651I|CDH20_ENST00000538374.1_Silent_p.I651I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	651					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AACCATACATCATCGACGACG	0.567000													12	110					9.05144e-12	1.86978e-11	0.001855	1	0
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179360322G>C	ENST00000234453.4	+	5	952	c.550G>C	c.(550-552)Gag>Cag	p.E184Q		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	184						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428000													18	121					0	0	0.004990	0	0
CCT4	10575	broad.mit.edu	37	2	62099641	62099641	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:62099641C>T	ENST00000394440.3	-	11	1504	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CCT4_ENST00000544185.1_Missense_Mutation_p.R253H|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.R347H|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.R373H	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	403					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGAATGGAGCGCTCAGCTTC	0.363000													7	41					0	0	0.003080	0	0
PMPCA	23203	broad.mit.edu	37	9	139316332	139316332	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139316332A>T	ENST00000371717.3	+	12	1321	c.1312A>T	c.(1312-1314)Aac>Tac	p.N438Y	PMPCA_ENST00000399219.3_Missense_Mutation_p.N307Y	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	438					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCTCATGATGAACCTGGAATC	0.622000													11	71					0	0	0.000978	0	0
SH3D21	79729	broad.mit.edu	37	1	36785434	36785434	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:36785434C>T	ENST00000453908.2	+	14	1198	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	SH3D21_ENST00000426732.2_Silent_p.L274L|SH3D21_ENST00000312808.4_Silent_p.L36L|SH3D21_ENST00000505871.1_Silent_p.L279L	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	274										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAAGACCCTCACTCTAGGGG	0.617000													12	47					0	0	0.000978	0	0
MTA1	9112	broad.mit.edu	37	14	105927207	105927207	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105927207G>C	ENST00000331320.7	+	10	1073	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	MTA1_ENST00000406191.1_Missense_Mutation_p.E287Q|MTA1_ENST00000405646.1_Missense_Mutation_p.E270Q	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	287	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGAGATGGAGGAGTGGTCTGC	0.562000													4	118					0	0	0.000248	0	0
ATM	472	broad.mit.edu	37	11	108121428	108121428	+	Splice_Site	SNP	G	G	C	rs79220522		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:108121428G>C	ENST00000278616.4	+	10	1621	c.1235_splice	c.e10-1	p.W412_splice	ATM_ENST00000452508.2_Splice_Site_p.W412_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	412					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTTTTTTAGGCTACAGATTG	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	32					0	0	0.004482	0	0
POLR3E	55718	broad.mit.edu	37	16	22320755	22320755	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22320755G>A	ENST00000299853.5	+	6	455	c.288G>A	c.(286-288)ctG>ctA	p.L96L	POLR3E_ENST00000418581.2_Silent_p.L60L|POLR3E_ENST00000564209.1_Silent_p.L96L|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Silent_p.L96L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	96					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCAGGAAGCTGATGGACAAGC	0.617000													39	291					0	0	0.002852	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192787	132192787	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:132192787G>A	ENST00000359827.3	-	2	1628	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PLXNA4_ENST00000423507.2_Silent_p.F222F|PLXNA4_ENST00000378539.5_Silent_p.F222F|PLXNA4_ENST00000321063.4_Silent_p.F222F			Q9HCM2	PLXA4_HUMAN	plexin A4	222	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGAGGCCACGAACTCATCAT	0.488000													7	102					0	0	0.001984	0	0
TTLL11	158135	broad.mit.edu	37	9	124751885	124751885	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:124751885G>A	ENST00000321582.5	-	4	1315	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	TTLL11_ENST00000373776.3_Silent_p.C376C|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	376	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGAGAGGTTTGCAGATGTACT	0.493000													14	106					0	0	0.001855	0	0
MYBPC1	4604	broad.mit.edu	37	12	102064158	102064158	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:102064158G>A	ENST00000549145.1	+	24	2702	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	MYBPC1_ENST00000545503.2_Missense_Mutation_p.E837K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E811K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E837K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E738K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E855K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E825K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E818K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E824K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E823K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E855K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	855	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGAGTTGGAGAAGCTGTCAA	0.443000													15	129					0	0	0.004990	0	0
CACHD1	57685	broad.mit.edu	37	1	65142628	65142628	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:65142628A>G	ENST00000371073.2	+	22	3026	c.3026A>G	c.(3025-3027)gAc>gGc	p.D1009G	CACHD1_ENST00000290039.5_Missense_Mutation_p.D958G|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1009					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGCTATTGACCCTGGCCTG	0.532000													14	106					0	0	0.001855	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967812	64967812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:64967812G>A	ENST00000399262.2	-	10	3835	c.3617C>T	c.(3616-3618)gCa>gTa	p.A1206V	JMJD1C_ENST00000542921.1_Missense_Mutation_p.A1024V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A987V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A987V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1206					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATACTGGTGCTCTATGTAA	0.438000													21	99					0	0	0.001882	0	0
MEGF10	84466	broad.mit.edu	37	5	126784914	126784914	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:126784914G>A	ENST00000274473.6	+	23	3247	c.2980_splice	c.e23+1	p.G994_splice	MEGF10_ENST00000503335.2_Splice_Site_p.G994_splice|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	994	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAACGAGCTCGGTGAGTTCTC	0.532000													4	77					0	0	0.000248	0	0
EXD1	161829	broad.mit.edu	37	15	41476415	41476415	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476415T>A	ENST00000314992.5	-	10	1449	c.1259A>T	c.(1258-1260)gAg>gTg	p.E420V	EXD1_ENST00000458580.2_Missense_Mutation_p.E478V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTCTGGTCCTCTGACCCCTT	0.418000													21	137					0	0	0.002299	0	0
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97868522A>T	ENST00000437310.1	+	1	353	c.293A>T	c.(292-294)aAg>aTg	p.K98M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAATGCAAGATACAGTTG	0.383000													27	186					0	0	0.006320	0	0
FEZF1	389549	broad.mit.edu	37	7	121943818	121943818	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:121943818T>G	ENST00000442488.2	-	1	741	c.674A>C	c.(673-675)cAg>cCg	p.Q225P	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.Q175P|FEZF1_ENST00000331178.4_Missense_Mutation_p.Q225P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	225					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCTGCAGCTGAGCCTGGGA	0.507000													3	108					0	0	0.004672	0	0
C15orf52	388115	broad.mit.edu	37	15	40630982	40630982	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:40630982C>T	ENST00000559313.1	-	4	501	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	162										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCAGCTCCACCAGCTCCC	0.607000													11	50					0	0	0.008291	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696645	153696645	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696645G>A	ENST00000369682.3	+	23	4138		c.e23-1			NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3						axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCCCACAGACGCCACCCA	0.672000													7	76					0	0	0.001984	0	0
EBF2	64641	broad.mit.edu	37	8	25902267	25902267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:25902267C>T	ENST00000520164.1	-	1	646	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACATTAGCGTCCACCACTCCG	0.567000													6	104					0	0	0.001984	0	0
NCBP1	4686	broad.mit.edu	37	9	100425264	100425264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:100425264G>A	ENST00000375147.3	+	18	1988	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	578					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AACCCTAGCTGAAAGTGATGA	0.323000													8	61					0	0	0.006214	0	0
PTCH1	5727	broad.mit.edu	37	9	98209652	98209652	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:98209652C>T	ENST00000430669.2	-	23	4273	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R	PTCH1_ENST00000421141.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1295R|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1296R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1145R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1230R			Q13635	PTC1_HUMAN	patched 1	1296					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTTGCCGTCCGGGAGGCAGG	0.652000													17	92					0	0	0.004990	0	0
MPV17L	255027	broad.mit.edu	37	16	15501680	15501680	+	Splice_Site	SNP	G	G	A	rs144408494		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:15501680G>A	ENST00000287594.6	+	2	454		c.e2-1		MPV17L_ENST00000396385.3_Splice_Site|RP11-1021N1.1_ENST00000568222.1_Intron	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like							integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						CCCAATTCCAGAGTGGACTGA	0.368000													6	37					0	0	0.001984	0	0
DNASE2B	58511	broad.mit.edu	37	1	84864283	84864283	+	Silent	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:84864283A>T	ENST00000370665.3	+	1	69	c.36A>T	c.(34-36)acA>acT	p.T12T		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	12					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGCTAAGAACATCCTTTGCTT	0.463000													10	186					0	0	0.006214	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													6	78					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	186026439	186026439	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:186026439G>A	ENST00000271588.4	+	46	7447	c.7218G>A	c.(7216-7218)ttG>ttA	p.L2406L	HMCN1_ENST00000367492.2_Silent_p.L2406L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTATCTTTGACTTGTGAAG	0.423000													8	58					0	0	0.004482	0	0
PVRL3	25945	broad.mit.edu	37	3	110831075	110831075	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:110831075G>A	ENST00000485303.1	+	2	634	c.359G>A	c.(358-360)aGa>aAa	p.R120K	PVRL3_ENST00000319792.3_Missense_Mutation_p.R120K|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.R97K	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	120	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.R120T(1)|p.R97T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATCAGGGAAGAGTCTTGTTT	0.373000													7	50					0	0	0.003080	0	0
OR5H15	403274	broad.mit.edu	37	3	97887666	97887666	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97887666G>C	ENST00000356526.2	+	1	123	c.123G>C	c.(121-123)ggG>ggC	p.G41G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCATCATGGGGAATCTTGGTC	0.408000													22	191					0	0	0.004656	0	0
USP9X	8239	broad.mit.edu	37	X	41048594	41048594	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:41048594C>T	ENST00000324545.7	+	26	4476	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	USP9X_ENST00000378308.2_Silent_p.D1281D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1281					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGGAAGACGAACAGGTTT	0.388000													9	72					0	0	0.008291	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516741	158516741	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:158516741C>T	ENST00000355585.4	+	27	3911	c.3836C>T	c.(3835-3837)aCa>aTa	p.T1279I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.T1234I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.T364I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1279	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTGTCGTGACAGCCCCTCGA	0.567000													10	65					0	0	0.006214	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970921	45970921	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:45970921G>C	ENST00000391621.1	-	1	467	c.421C>G	c.(421-423)Cgt>Ggt	p.R141G	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	141	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						ACAGGCACACGGCAGGACTGC	0.617000													26	154					0	0	0.003954	0	0
GALR2	8811	broad.mit.edu	37	17	74071008	74071008	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:74071008C>T	ENST00000329003.3	+	1	134	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	15					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCGAGCCAGGCGGGCGGCGGG	0.741000													3	7					0	0	0.004672	0	0
NFASC	23114	broad.mit.edu	37	1	204943329	204943329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204943329G>A	ENST00000367172.4	+	13	1630	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	NFASC_ENST00000338515.6_Silent_p.S434S|NFASC_ENST00000403080.1_Silent_p.S434S|NFASC_ENST00000513543.1_Silent_p.S445S|NFASC_ENST00000539706.1_Silent_p.S445S|NFASC_ENST00000367171.4_Silent_p.S434S|NFASC_ENST00000404076.1_Silent_p.S428S|NFASC_ENST00000338586.6_Silent_p.S434S|NFASC_ENST00000367170.4_Silent_p.S434S|NFASC_ENST00000404907.1_Silent_p.S445S|NFASC_ENST00000367169.4_Silent_p.S434S|NFASC_ENST00000360049.4_Silent_p.S445S|NFASC_ENST00000339876.6_Silent_p.S434S|NFASC_ENST00000401399.1_Silent_p.S434S			O94856	NFASC_HUMAN	neurofascin	434	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGATGCTGTCGCCCCGGAACC	0.552000													4	16					0	0	0.000602	0	0
CCDC40	55036	broad.mit.edu	37	17	78023899	78023899	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:78023899G>A	ENST00000397545.4	+	7	1003	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CCDC40_ENST00000374876.4_Missense_Mutation_p.E326K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E326K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E326K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	326					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGCGGCAGGAGCTGGGGGT	0.622000													5	36					0	0	0.000602	0	0
EP300	2033	broad.mit.edu	37	22	41572250	41572250	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:41572250G>A	ENST00000263253.7	+	30	5998		c.e30-1		RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTGTTTTTCAGGTCTTCTTTG	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				10	174					0	0	0.006214	0	0
NCOR1	9611	broad.mit.edu	37	17	16005052	16005052	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:16005052G>A	ENST00000268712.3	-	20	2459	c.2202C>T	c.(2200-2202)agC>agT	p.S734S	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.S641S|NCOR1_ENST00000395851.1_Silent_p.S750S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	734					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTGTCCTCGCTGGGCTTGA	0.463000													13	67					0	0	0.001368	0	0
MYO3A	53904	broad.mit.edu	37	10	26417382	26417382	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:26417382A>C	ENST00000265944.5	+	20	2343	c.2177A>C	c.(2176-2178)aAa>aCa	p.K726T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	726	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTTCAAAAAAAATTCCTTC	0.338000													6	47					0	0	0.001168	0	0
LRFN1	57622	broad.mit.edu	37	19	39798886	39798886	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:39798886C>T	ENST00000248668.4	-	2	1702	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	568						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.R520L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTTGACGCGGCGGCTGTCCCC	0.682000													6	34					0	0	0.001168	0	0
NOB1	28987	broad.mit.edu	37	16	69788590	69788590	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:69788590T>C	ENST00000268802.5	-	2	132	c.103A>G	c.(103-105)Act>Gct	p.T35A		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	35	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAATCTCAGTGACCACCTCC	0.632000													5	36					0	0	0.000602	0	0
GRM2	2912	broad.mit.edu	37	3	51746802	51746802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:51746802G>A	ENST00000395052.3	+	3	998	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	GRM2_ENST00000442933.2_Missense_Mutation_p.R255Q|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	255					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTGTGGTGCGAGCCCTGCTG	0.662000													9	53					0	0	0.004482	0	0
STAG2	10735	broad.mit.edu	37	X	123159747	123159747	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:123159747C>T	ENST00000371160.1	+	4	392	c.102C>T	c.(100-102)aaC>aaT	p.N34N	STAG2_ENST00000371144.3_Silent_p.N34N|STAG2_ENST00000371145.3_Silent_p.N34N|STAG2_ENST00000218089.9_Silent_p.N34N|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000371157.3_Silent_p.N34N|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	34					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGGAAAAAACCAAAAGCAAG	0.323000													7	110					0	0	0.004482	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788639	37788639	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:37788639G>A	ENST00000314103.4	+	14	1806	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	552					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAAACAAAGGAGGCACGGAA	0.567000													4	35					0	0	0.000248	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791272	133791272	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:133791272C>T	ENST00000321016.8	-	18	2578	c.2348G>A	c.(2347-2349)aGc>aAc	p.S783N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S783N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	783						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCTCGGGGCTCACCTTGCC	0.662000													3	15					0	0	0.000248	0	0
DNMT3A	1788	broad.mit.edu	37	2	25468900	25468900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:25468900C>T	ENST00000264709.3	-	12	1800	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R265Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R299Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R488Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	488	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAATGTTCCGGCACTTCTG	0.602000			"""Mis, F, N, S"""		AML								10	67					0	0	0.006214	0	0
MPP1	4354	broad.mit.edu	37	X	154019310	154019310	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154019310A>C	ENST00000413259.3	-	5	661	c.269T>G	c.(268-270)aTc>aGc	p.I90S	MPP1_ENST00000369534.3_Missense_Mutation_p.I120S|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.I120S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	120	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTGCCATTGATTTCTAGGAT	0.423000													7	268					0	0	0.004482	0	0
ZNF292	23036	broad.mit.edu	37	6	87971506	87971506	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87971506G>A	ENST00000369577.3	+	8	8202	c.8159G>A	c.(8158-8160)aGa>aAa	p.R2720K	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2715K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCACAGGCAGAGGTCAGTAC	0.318000													4	33					0	0	0.000248	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001378	52001378	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:52001378C>A	ENST00000291707.3	-	5	1354	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	SIGLEC12_ENST00000598614.1_Silent_p.L315L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	433	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCACTCGAGGCAGCTCCAGCA	0.607000													10	56					1.76689e-08	3.59923e-08	0.006214	1	0
ITGB3BP	23421	broad.mit.edu	37	1	63944501	63944502	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:63944501_63944502delTT	ENST00000371092.3	-	5	364_365	c.304_305delAA	c.(304-306)gfs	p.K102fs	ITGB3BP_ENST00000283568.8_Frame_Shift_Del_p.K63fs|ITGB3BP_ENST00000271002.10_Frame_Shift_Del_p.K63fs	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	63					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TTTTTTTCTCTTTTCTATATAT	0.228													8	41	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202131442	202131443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202131442_202131443insC	ENST00000358485.4	+	2	606_607	c.410_411insC	c.(409-411)tctfs	p.S137fs	CASP8_ENST00000392266.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264274.9_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000323492.7_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000432109.2_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392258.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392259.2_Frame_Shift_Ins_p.S78fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	78	DED 2.				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			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						CTGATTACCTACCTAAACACTA	0.475										HNSCC(4;0.00038)			13	52	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													3	3	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31323342	31323343	+	Frame_Shift_Ins	INS	-	-	G	rs80060802		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:31323342_31323343insG	ENST00000412585.2	-	4	674_675	c.646_647insC	c.(646-648)cccfs	p.P216fs		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						AGAGATGGGGTGGTGGGTCACG	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				24	195	---	---	---	---					
DST	667	broad.mit.edu	37	6	56494093	56494094	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:56494093_56494094delTG	ENST00000370754.5	-	31	4329_4330	c.4330_4331delCA	c.(4330-4332)afs	p.Q1444fs	DST_ENST00000518935.1_Frame_Shift_Del_p.Q940fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000361203.3_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q940fs|DST_ENST00000312431.6_Frame_Shift_Del_p.Q1266fs|DST_ENST00000421834.2_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370788.2_Frame_Shift_Del_p.Q1266fs			Q03001	DYST_HUMAN	dystonin	1266					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAACTAATTGATCTGCTTTT	0.356													10	108	---	---	---	---					
RNF122	79845	broad.mit.edu	37	8	33408567	33408568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:33408567_33408568insT	ENST00000256257.1	-	4	665_666	c.264_265insA	c.(262-267)ttatggfs	p.W89fs		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	89						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTACCCCATATAATTGTAACT	0.510													49	299	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													8	315	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723	by1000genomes	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)ccaggtfs	p.G387fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.490													12	60	---	---	---	---					
CPNE2	221184	broad.mit.edu	37	16	57157367	57157370	+	Frame_Shift_Del	DEL	CTGC	CTGC	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:57157367_57157370delCTGC	ENST00000535318.2	+	11	1270_1273	c.909_912delCTGC	c.(907-912)ggfs	p.GC303fs	CPNE2_ENST00000537605.1_Frame_Shift_Del_p.GC201fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.GC303fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.GC303fs			Q96FN4	CPNE2_HUMAN	copine II	303										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTGGGAGGCTGCCAGCTCATGT	0.593													9	84	---	---	---	---					
ATP1B4	23439	broad.mit.edu	37	X	119504589	119504591	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:119504589_119504591delCTT	ENST00000218008.3	+	3	405_407	c.348_350delCTT	c.(346-351)tac>ta	p.YF116del	ATP1B4_ENST00000361319.3_In_Frame_Del_p.YF112del|ATP1B4_ENST00000539306.1_Intron	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	116					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TACTCATTTACTTCTTCTTCTAT	0.483													41	269	---	---	---	---					
