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
XPO7	23039	broad.mit.edu	37	8	21833878	21833878	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:21833878G>A	ENST00000434536.1	+	7	738	c.636G>A	c.(634-636)aaG>aaA	p.K212K	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Silent_p.K203K|XPO7_ENST00000433566.4_Silent_p.K204K			Q9UIA9	XPO7_HUMAN	exportin 7	203					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.K203K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTTCAGGAAAGAATCTAAACT	0.433000													42	238					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858390	9858390	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:9858390G>T	ENST00000396573.2	-	14	3320	c.3011C>A	c.(3010-3012)tCc>tAc	p.S1004Y	GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S847Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1004Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1004					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1004Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCGCTTTGGATTCTGTGCT	0.507000													21	84					2.89027e-11	3.97626e-11	0.002299	1	0
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:143826661C>T	ENST00000408899.2	+	1	511	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F152F(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532000													39	309					0	0	0.006230	0	0
PSG6	5675	broad.mit.edu	37	19	43421920	43421920	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43421920A>G	ENST00000187910.2	-	1	90	c.25T>C	c.(25-27)Tgc>Cgc	p.C9R	PSG6_ENST00000601833.1_Intron|PSG6_ENST00000402603.4_Missense_Mutation_p.C9R|PSG6_ENST00000292125.2_Missense_Mutation_p.C9R	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.C9R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGCTGAGTGCAGGGAGGGGCT	0.597000													17	129					0	0	0.004990	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816684	43816684	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:43816684G>T	ENST00000377564.3	+	6	1183	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.G264C	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	264	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G264C(1)		central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCTCACCCTGGGCAGCCTGCT	0.502000													6	43					0.000157383	0.000180699	0.003080	1	0
MEPCE	56257	broad.mit.edu	37	7	100028300	100028300	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:100028300C>T	ENST00000310512.2	+	1	1047	c.659C>T	c.(658-660)cCg>cTg	p.P220L	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	220							methyltransferase activity	p.P220L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCCTTCCGGCCAAAGGG	0.547000													28	124					0	0	0.005443	0	0
CEP192	55125	broad.mit.edu	37	18	13124735	13124735	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:13124735T>G	ENST00000506447.1	+	45	7660	c.7580T>G	c.(7579-7581)aTt>aGt	p.I2527S	CEP192_ENST00000325971.8_Missense_Mutation_p.I1931S|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.I2052S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	2122								p.I1931S(1)|p.I2527S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTATTGCTATTCGACTAATT	0.348000													7	34					0	0	0.001984	0	0
PLEC	5339	broad.mit.edu	37	8	145049532	145049532	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:145049532C>A	ENST00000436759.2	-	2	43	c.6G>T	c.(4-6)tcG>tcT	p.S2S	PLEC_ENST00000527096.1_Silent_p.S2S	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.S2S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTCCTCACCCGACATGGCCT	0.607000											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	32					5.9392e-07	7.3843e-07	0.001168	1	0
RNF115	27246	broad.mit.edu	37	1	145663206	145663206	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:145663206C>G	ENST00000369291.4	+	4	471	c.267C>G	c.(265-267)ccC>ccG	p.P89P		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115	89					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P89P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						ATTTTAGACCCTTTCTAAGTA	0.428000													17	53					0	0	0.007413	0	0
ENTPD1	953	broad.mit.edu	37	10	97602241	97602241	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:97602241C>T	ENST00000371207.3	+	4	502	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.R142W|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000543964.1_Missense_Mutation_p.R27W|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.R135W	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	135					cell adhesion	integral to plasma membrane	ATP binding	p.R135W(2)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCAGGCATGCGGTTGCTCAG	0.532000													4	94					0	0	0.009096	0	0
GMPR2	51292	broad.mit.edu	37	14	24707945	24707945	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:24707945C>T	ENST00000557854.1	+	8	1522	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	GMPR2_ENST00000348719.7_Silent_p.V397V|GMPR2_ENST00000355299.4_Silent_p.V336V|GMPR2_ENST00000559836.1_Silent_p.V336V|GMPR2_ENST00000456667.3_Silent_p.V308V|GMPR2_ENST00000559910.1_Silent_p.V303V|GMPR2_ENST00000420554.2_Silent_p.V354V|GMPR2_ENST00000399440.2_Silent_p.V336V|GMPR2_ENST00000559104.1_Silent_p.V321V			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	336					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	p.V336V(1)|p.V354V(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TCATCCGAGTCACCCAGCAGG	0.542000													9	56					0	0	0.004482	0	0
GNG2	54331	broad.mit.edu	37	14	52433384	52433384	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:52433384G>T	ENST00000335281.4	+	3	601	c.195G>T	c.(193-195)aaG>aaT	p.K65N	GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000554736.1_Missense_Mutation_p.K65N|GNG2_ENST00000553432.1_Missense_Mutation_p.K96N|GNG2_ENST00000557376.1_Missense_Mutation_p.K104N|GNG2_ENST00000556766.1_Missense_Mutation_p.K65N|GNG2_ENST00000556752.1_Missense_Mutation_p.K65N|GNG2_ENST00000555472.1_Missense_Mutation_p.K65N	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	65					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.K65N(1)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	GGGAGAAGAAGTTTTTCTGTG	0.512000													35	122					1.36161e-19	2.08961e-19	0.004289	1	0
MYBL2	4605	broad.mit.edu	37	20	42338633	42338633	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:42338633G>T	ENST00000217026.4	+	10	1663	c.1536G>T	c.(1534-1536)atG>atT	p.M512I	MYBL2_ENST00000396863.4_Missense_Mutation_p.M488I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.M512I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTACTCCATGGACAACACTC	0.617000													27	209					1.30988e-24	2.06472e-24	0.002096	1	0
DCLRE1A	9937	broad.mit.edu	37	10	115606963	115606963	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:115606963C>T	ENST00000361384.2	-	3	3174	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E753K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	753					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAACTTACCTCACTACAATAA	0.318000								Other identified genes with known or suspected DNA repair function					8	34					0	0	0.004482	0	0
ASL	435	broad.mit.edu	37	7	65552720	65552720	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:65552720C>G	ENST00000304874.9	+	10	762	c.660C>G	c.(658-660)ctC>ctG	p.L220L	ASL_ENST00000380839.4_Silent_p.L194L|ASL_ENST00000395332.3_Silent_p.L220L|ASL_ENST00000395331.3_Silent_p.L220L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	220					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.L220L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCCAGAACTCAACTTTGGGG	0.627000													3	30					0	0	0.004672	0	0
SETBP1	26040	broad.mit.edu	37	18	42530624	42530624	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:42530624G>T	ENST00000282030.5	+	4	1615	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	440						nucleus	DNA binding	p.G440V(1)|p.G386V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTGGCTTCTGGAATCACCATG	0.443000									Schinzel-Giedion syndrome				18	93					1.33834e-09	1.80385e-09	0.007413	1	0
BMS1	9790	broad.mit.edu	37	10	43312827	43312827	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:43312827A>T	ENST00000374518.4	+	15	2528	c.2465A>T	c.(2464-2466)aAg>aTg	p.K822M		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	822					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.K822M(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGTGCCAAGAAAAAGCAT	0.318000													6	18					0	0	0.001168	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709806	31709806	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:31709806G>T	ENST00000382835.2	-	1	206	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	61						intermediate filament		p.Q61K(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGGTCATTTGGCAGCTGGTG	0.453000													21	112					6.33239e-15	9.17308e-15	0.010504	1	0
KCNT2	343450	broad.mit.edu	37	1	196459025	196459025	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:196459025C>A	ENST00000367433.5	-	3	319	c.218G>T	c.(217-219)aGc>aTc	p.S73I	KCNT2_ENST00000367431.4_Missense_Mutation_p.S73I|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.S73I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	73						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S73I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAATAAGCAGCTTAGTAATTT	0.303000													19	134					7.45023e-12	1.04348e-11	0.010504	1	0
FTHL17	53940	broad.mit.edu	37	X	31089831	31089831	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:31089831G>C	ENST00000359202.3	-	1	339	c.240C>G	c.(238-240)caC>caG	p.H80Q		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	80	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.H80Q(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GAAGGCAGATGTGGCCACCGC	0.597000													16	81					0	0	0.004007	0	0
NEK5	341676	broad.mit.edu	37	13	52639651	52639651	+	Silent	SNP	G	G	A	rs56086016		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:52639651G>A	ENST00000355568.4	-	22	2158	c.2019C>T	c.(2017-2019)gaC>gaT	p.D673D		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	673							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D705D(1)|p.D673D(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGGTGATGTCGGCCACTG	0.607000													18	85					0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	215972398	215972398	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:215972398C>T	ENST00000366943.2	-	50	10195	c.9809G>A	c.(9808-9810)aGa>aAa	p.R3270K	USH2A_ENST00000307340.3_Missense_Mutation_p.R3270K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3270					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3270K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACGGCATTCTGCCACAGCA	0.478000										HNSCC(13;0.011)			10	46					0	0	0.006214	0	0
CALCA	796	broad.mit.edu	37	11	14990398	14990398	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:14990398C>A	ENST00000331587.4	-	4	491	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	CALCA_ENST00000359642.3_Missense_Mutation_p.D125Y|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000486207.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.D125Y	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	p.D125Y(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CTCTCCAAGTCGCTGGACATA	0.493000													33	144					1.45844e-13	2.08668e-13	0.002836	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159487	18159487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:18159487G>A	ENST00000396275.2	+	3	1099	c.738G>A	c.(736-738)tgG>tgA	p.W246*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W246*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCTGGATTGGAAAGTCTTAT	0.512000													12	89					0	0	0.001368	0	0
ZNF613	79898	broad.mit.edu	37	19	52447376	52447376	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:52447376C>G	ENST00000293471.6	+	6	919	c.240C>G	c.(238-240)atC>atG	p.I80M	ZNF613_ENST00000391794.4_Missense_Mutation_p.I44M	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I80M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCTAGAAATCAAGAAAGTTG	0.368000													5	20					0	0	0.001168	0	0
HEG1	57493	broad.mit.edu	37	3	124731533	124731533	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:124731533T>A	ENST00000311127.4	-	6	2957	c.2890A>T	c.(2890-2892)Aaa>Taa	p.K964*		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	964						extracellular region|integral to membrane	calcium ion binding	p.K964*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTGGCAGATTTGGGAGCCAAG	0.517000													10	34					0	0	0.008291	0	0
CTCFL	140690	broad.mit.edu	37	20	56073662	56073662	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56073662C>G	ENST00000429804.2	-	10	2346	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	CTCFL_ENST00000423479.2_Missense_Mutation_p.E646Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.E646Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.E646Q	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	646					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E646Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCACTTCCTCTTTGACTCTG	0.527000													27	198					0	0	0.008361	0	0
HCLS1	3059	broad.mit.edu	37	3	121351263	121351263	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:121351263T>A	ENST00000314583.3	-	12	1247	c.1156A>T	c.(1156-1158)Agg>Tgg	p.R386W	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.R349W	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.R386W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TGCTCATGCCTGTCCATCTCC	0.567000													43	247					0	0	0.003610	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629920	7629920	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7629920G>T	ENST00000340209.4	+	3	724	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	RBFOX1_ENST00000422070.4_Missense_Mutation_p.G181C|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G138C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G158C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G181C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G158C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G158C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G138C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G173C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G138C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	138	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.G158C(2)|p.G138C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACAAATGTTTGGTGTAAGTAT	0.493000													12	36					4.3838e-07	5.49452e-07	0.001855	1	0
PCDHB7	56129	broad.mit.edu	37	5	140552718	140552718	+	Missense_Mutation	SNP	C	C	A	rs139238267		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140552718C>A	ENST00000231137.3	+	1	476	c.302C>A	c.(301-303)cCc>cAc	p.P101H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P101H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443000													28	105					3.1745e-13	4.52804e-13	0.008361	1	0
ESRRG	2104	broad.mit.edu	37	1	216692692	216692692	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216692692C>G	ENST00000391890.3	-	8	1403	c.886G>C	c.(886-888)Ggt>Cgt	p.G296R	ESRRG_ENST00000366938.2_Missense_Mutation_p.G289R|ESRRG_ENST00000408911.3_Missense_Mutation_p.G312R|ESRRG_ENST00000360012.3_Missense_Mutation_p.G289R|ESRRG_ENST00000366940.2_Missense_Mutation_p.G289R|ESRRG_ENST00000366937.1_Missense_Mutation_p.G324R|ESRRG_ENST00000493603.1_Missense_Mutation_p.G289R|ESRRG_ENST00000493748.1_Missense_Mutation_p.G289R|ESRRG_ENST00000359162.2_Missense_Mutation_p.G289R|ESRRG_ENST00000487276.1_Missense_Mutation_p.G289R|ESRRG_ENST00000361395.2_Missense_Mutation_p.G289R|ESRRG_ENST00000361525.3_Missense_Mutation_p.G289R|ESRRG_ENST00000463665.1_Missense_Mutation_p.G250R	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	312					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G312R(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TATACGACACCAAGGATCAAA	0.473000													8	43					0	0	0.004482	0	0
GRM1	2911	broad.mit.edu	37	6	146480566	146480566	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:146480566C>A	ENST00000392299.2	+	3	1253	c.783C>A	c.(781-783)atC>atA	p.I261I	GRM1_ENST00000361719.2_Silent_p.I261I|GRM1_ENST00000507907.1_Silent_p.I261I|GRM1_ENST00000492807.2_Silent_p.I261I|GRM1_ENST00000282753.1_Silent_p.I261I|GRM1_ENST00000355289.4_Silent_p.I261I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	261					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I261I(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGACAAAATCTACAGCAACG	0.532000													19	74					0.000958276	0.00106348	0.007413	1	0
DZIP1L	199221	broad.mit.edu	37	3	137783472	137783472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:137783472G>A	ENST00000327532.2	-	15	2502	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	714						intracellular	zinc ion binding	p.Q714*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CATCCTACCTGAGGCTTCCTT	0.557000													34	227					0	0	0.005524	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819936	70819936	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:70819936C>T	ENST00000370944.4	-	1	469	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ANKRD13C_ENST00000262346.6_Silent_p.K52K	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	52					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.K52K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TACTGAAGATCTTATGACAAG	0.632000													28	170					0	0	0.006320	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43576027C>A	ENST00000406487.1	-	4	887	c.789G>T	c.(787-789)gcG>gcT	p.A263A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000													50	289					1.56793e-16	2.32935e-16	0.003610	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36143822	36143822	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:36143822C>G	ENST00000258840.6	-	23	3731	c.3341G>C	c.(3340-3342)aGa>aCa	p.R1114T	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1080T|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R1067T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1067T			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1067					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R1067T(2)		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						GCCTAGCATTCTTCGCCACAT	0.398000													8	21					0	0	0.004482	0	0
OR5K3	403277	broad.mit.edu	37	3	98110219	98110219	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:98110219C>A	ENST00000383695.1	+	1	710	c.710C>A	c.(709-711)tCt>tAt	p.S237Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S237Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAGCTTTATCTACTTGTGCA	0.358000													16	104					8.60227e-14	1.23459e-13	0.004007	1	0
FZD8	8325	broad.mit.edu	37	10	35928960	35928960	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:35928960C>T	ENST00000374694.1	-	1	1402	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	466					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.P466P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCCCGCCACCGGGTCGCCGT	0.667000													3	25					0	0	0.009096	0	0
IGHG3	3502	broad.mit.edu	37	14	106235882	106235882	+	RNA	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:106235882G>T	ENST00000390551.2	-	0	824																											TACACCTGTGGTTCTCGGGGC	0.632000													39	155					6.2361e-21	9.60195e-21	0.007835	1	0
GRIFIN	402635	broad.mit.edu	37	7	2515570	2515570	+	RNA	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:2515570C>G	ENST00000417742.1	-	0	233									galectin-related inter-fiber protein														Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		TCTCCAGAGTCAGCATGTCCC	0.677000													11	39					0	0	0.008291	0	0
LIMCH1	22998	broad.mit.edu	37	4	41687770	41687770	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:41687770A>T	ENST00000313860.7	+	23	2913	c.2859A>T	c.(2857-2859)tcA>tcT	p.S953S	LIMCH1_ENST00000503057.1_Silent_p.S1337S|LIMCH1_ENST00000514096.1_Silent_p.S793S|LIMCH1_ENST00000511496.1_Silent_p.S793S|LIMCH1_ENST00000396595.3_Silent_p.S798S|LIMCH1_ENST00000513024.1_Silent_p.S806S|LIMCH1_ENST00000509277.1_Silent_p.S786S|LIMCH1_ENST00000512820.1_Silent_p.S965S|LIMCH1_ENST00000512946.1_Silent_p.S953S|LIMCH1_ENST00000381753.4_Silent_p.S786S|LIMCH1_ENST00000512632.1_Silent_p.S876S|LIMCH1_ENST00000508501.1_Silent_p.S952S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	953					actomyosin structure organization		actin binding|zinc ion binding	p.S953S(1)|p.S1337S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CGCACAGTTCAGAAGATGTGA	0.443000													6	52					0	0	0.001984	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047816	46047816	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:46047816G>T	ENST00000397911.3	+	1	777	c.728G>T	c.(727-729)tGc>tTc	p.C243F	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	243	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.C243F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGGCCCGCCTGCTGCGTGCCC	0.697000													47	155					7.88023e-25	1.24636e-24	0.003610	1	0
TYR	7299	broad.mit.edu	37	11	89018116	89018116	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:89018116G>A	ENST00000263321.5	+	4	1862	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	454					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.D454N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTATCTACAAGATTCAGGTAA	0.338000													14	70					0	0	0.003163	0	0
C14orf37	145407	broad.mit.edu	37	14	58605024	58605024	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:58605024C>A	ENST00000267485.7	-	2	1247	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	351						integral to membrane	binding	p.E351_G352>DC(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTCCATACCCTCATGGCTTA	0.552000													29	132					2.4375e-19	3.71619e-19	0.007291	1	0
SPATS1	221409	broad.mit.edu	37	6	44336165	44336165	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:44336165A>G	ENST00000288390.2	+	5	971	c.624A>G	c.(622-624)ccA>ccG	p.P208P	SPATS1_ENST00000323108.8_Silent_p.P208P			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	208								p.P208P(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCGACAATCCATATATGTACC	0.393000													22	76					0	0	0.010504	0	0
ERMP1	79956	broad.mit.edu	37	9	5805687	5805687	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5805687C>T	ENST00000339450.5	-	9	1736	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	ERMP1_ENST00000543230.1_Silent_p.S127S|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S325S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	549					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	p.S549S(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TAATAAACGCCGAGCAAAGTC	0.428000													5	44					0	0	0.000602	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378627	130378627	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:130378627G>A	ENST00000529410.1	+	11	1223	c.744G>A	c.(742-744)gcG>gcA	p.A248A	L3MBTL3_ENST00000368136.2_Silent_p.A248A|L3MBTL3_ENST00000368139.2_Silent_p.A223A|L3MBTL3_ENST00000526019.1_Silent_p.A223A|L3MBTL3_ENST00000361794.2_Silent_p.A248A|L3MBTL3_ENST00000533560.1_Silent_p.A223A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	248					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A248A(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGTGCCGGCGAAGCTGTTCA	0.527000													8	19					0	0	0.003080	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819497	31819497	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31819497G>C	ENST00000382902.1	-	5	759	c.667C>G	c.(667-669)Cac>Gac	p.H223D	OTUD7A_ENST00000307050.4_Missense_Mutation_p.H223D			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	223	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.H223D(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCCGGTCGTGAAACCCCCAC	0.572000													24	93					0	0	0.003954	0	0
MAP1B	4131	broad.mit.edu	37	5	71493960	71493960	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:71493960C>T	ENST00000296755.7	+	5	5076	c.4778C>T	c.(4777-4779)tCt>tTt	p.S1593F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1593						microtubule|microtubule associated complex	structural molecule activity	p.S1593F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTTCAGTGTCTGTTGTGCAA	0.468000													21	106					0	0	0.002780	0	0
SMARCC2	6601	broad.mit.edu	37	12	56567617	56567617	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:56567617C>T	ENST00000394023.3	-	17	1618	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E505K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E505K|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E505K|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	505	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.E505K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCCACTGTTCTAGGAAGGCA	0.567000													36	171					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179455351	179455351	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179455351C>A	ENST00000589042.1	-	304	61325	c.61101G>T	c.(61099-61101)cgG>cgT	p.R20367R	TTN_ENST00000342992.6_Silent_p.R17799R|TTN_ENST00000342175.6_Silent_p.R11494R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R18726R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R11302R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R11427R|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11494R(1)|p.R17799R(1)|p.R11427R(1)|p.R17797R(1)|p.R11302R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGATGGGCCGGCAAGCTT	0.428000													31	157					5.71845e-15	8.30962e-15	0.005524	1	0
ZNF217	7764	broad.mit.edu	37	20	52198638	52198638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:52198638G>T	ENST00000371471.2	-	2	1153	c.728C>A	c.(727-729)gCt>gAt	p.A243D	ZNF217_ENST00000302342.3_Missense_Mutation_p.A243D			O75362	ZN217_HUMAN	zinc finger protein 217	243					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A243D(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGTACCGAAAGCAGTTTTTTT	0.478000													31	201					1.08312e-15	1.59383e-15	0.009535	1	0
DHRS11	79154	broad.mit.edu	37	17	34955412	34955412	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:34955412C>T	ENST00000251312.5	+	4	727	c.515C>T	c.(514-516)gCc>gTc	p.A172V	DHRS11_ENST00000590554.1_Missense_Mutation_p.A93V	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	172						extracellular region	binding|oxidoreductase activity	p.A172V(1)		endometrium(1)|lung(4)	5						ACCAAGTATGCCGTCACTGCG	0.607000													4	123					0	0	0.000602	0	0
KIF4A	24137	broad.mit.edu	37	X	69516870	69516870	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69516870C>A	ENST00000374403.3	+	4	340	c.258C>A	c.(256-258)gcC>gcA	p.A86A	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.A86A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	86	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	p.A86A(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CGGTCCTGGCCTATGGGCAGA	0.413000													19	112					1.96292e-10	2.6611e-10	0.010504	1	0
MUC16	94025	broad.mit.edu	37	19	9065535	9065535	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:9065535G>T	ENST00000397910.4	-	3	22114	c.21911C>A	c.(21910-21912)tCc>tAc	p.S7304Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7306	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7304Y(2)|p.S2937Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGTGGTGGATATTTCTGG	0.463000													19	60					5.03518e-11	6.90667e-11	0.007413	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92706072	92706072	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:92706072T>C	ENST00000318445.6	+	10	2054	c.1840T>C	c.(1840-1842)Tgc>Cgc	p.C614R	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C614R|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	614					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.C614R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCAAGGCGCCTGCGTCCTCTA	0.582000													3	80					0	0	0.004672	0	0
RIOK1	83732	broad.mit.edu	37	6	7395331	7395331	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:7395331C>G	ENST00000379834.2	+	3	829	c.322C>G	c.(322-324)Cca>Gca	p.P108A		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	108							ATP binding|protein serine/threonine kinase activity	p.P101A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AATGTCTACTCCAGCAGACAA	0.393000													5	22					0	0	0.000602	0	0
RRBP1	6238	broad.mit.edu	37	20	17602407	17602407	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:17602407C>T	ENST00000377813.1	-	15	3555	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E	RRBP1_ENST00000455029.2_Silent_p.E425E|RRBP1_ENST00000246043.4_Silent_p.E1084E|RRBP1_ENST00000377807.2_Silent_p.E651E|RRBP1_ENST00000360807.4_Silent_p.E651E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1084					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.E651E(1)|p.E1084E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCTGCAGCCACTCGGTGTAAT	0.607000													4	53					0	0	0.001168	0	0
PORCN	64840	broad.mit.edu	37	X	48372655	48372655	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48372655C>A	ENST00000367574.4	+	7	1006	c.501C>A	c.(499-501)gtC>gtA	p.V167V	PORCN_ENST00000359882.4_Silent_p.V243V|PORCN_ENST00000326194.6_Silent_p.V249V|PORCN_ENST00000361988.3_Silent_p.V238V|PORCN_ENST00000355092.3_Silent_p.V243V|PORCN_ENST00000537758.1_Silent_p.V249V|PORCN_ENST00000355961.4_Silent_p.V244V			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	249					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.S250T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAGTGCTGTCTCCTTCCACT	0.577000													19	109					4.96729e-08	6.50645e-08	0.008871	1	0
FAM71B	153745	broad.mit.edu	37	5	156592974	156592974	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156592974A>T	ENST00000302938.4	-	1	301	c.206T>A	c.(205-207)aTg>aAg	p.M69K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	69						nucleus		p.M69K(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGTCACCATTCGGACACG	0.468000													18	77					0	0	0.008871	0	0
AGL	178	broad.mit.edu	37	1	100356810	100356810	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:100356810G>T	ENST00000294724.4	+	22	3325	c.2847G>T	c.(2845-2847)aaG>aaT	p.K949N	AGL_ENST00000370165.3_Missense_Mutation_p.K949N|AGL_ENST00000361522.4_Missense_Mutation_p.K932N|AGL_ENST00000370161.2_Missense_Mutation_p.K933N|AGL_ENST00000370163.3_Missense_Mutation_p.K949N|AGL_ENST00000361915.3_Missense_Mutation_p.K949N|AGL_ENST00000361302.3_Missense_Mutation_p.K933N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	949					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.K949N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGACCAAAGAATGACTTGG	0.368000													18	54					5.3912e-06	6.46111e-06	0.006122	1	0
SLC34A3	142680	broad.mit.edu	37	9	140128971	140128971	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:140128971C>T	ENST00000538474.1	+	11	1421	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	SLC34A3_ENST00000361134.2_Silent_p.V399V	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	399					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.V399V(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCGGCCGTCGTGCCCCTCA	0.721000													23	37					0	0	0.002299	0	0
CSPG5	10675	broad.mit.edu	37	3	47618951	47618951	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47618951G>T	ENST00000383738.2	-	2	2663	c.565C>A	c.(565-567)Cca>Aca	p.P189T	CSPG5_ENST00000264723.4_Missense_Mutation_p.P189T|CSPG5_ENST00000456150.1_Missense_Mutation_p.P51T	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	189					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	p.P189T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCAGCTCTGGCCCTTGAGGG	0.607000													8	48					0.00307968	0.00331493	0.003080	1	0
SCAP	22937	broad.mit.edu	37	3	47465464	47465464	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47465464G>C	ENST00000265565.5	-	9	1521	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	SCAP_ENST00000441517.2_Nonsense_Mutation_p.S115*|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	370	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.S370*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TACCGGGGTTGAGACCACAGA	0.577000													5	30					0	0	0.001168	0	0
USH1C	10083	broad.mit.edu	37	11	17531182	17531182	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:17531182C>A	ENST00000005226.7	-	18	1733	c.1734G>T	c.(1732-1734)gcG>gcT	p.A578A	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.A578A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGACAGGGGGCGCCGGGACCT	0.632000													5	16					0.000602214	0.000671534	0.000602	1	0
HTR1A	3350	broad.mit.edu	37	5	63256551	63256551	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:63256551C>G	ENST00000323865.3	-	1	1229	c.996G>C	c.(994-996)aaG>aaC	p.K332N	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	332					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.K332N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATCTTGCGCTTCGCCTCGG	0.607000													26	104					0	0	0.003954	0	0
SCP2	6342	broad.mit.edu	37	1	53446082	53446082	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:53446082G>A	ENST00000371514.3	+	10	1008	c.840G>A	c.(838-840)atG>atA	p.M280I	SCP2_ENST00000528311.1_Missense_Mutation_p.M199I|SCP2_ENST00000371513.5_Missense_Mutation_p.M236I|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.M256I|SCP2_ENST00000371509.4_Missense_Mutation_p.M236I	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	280					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	p.M280I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCTTTGATATGAGTAAAGAAG	0.353000													25	94					0	0	0.006320	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309389	1309389	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:1309389T>C	ENST00000338370.3	-	2	889	c.489A>G	c.(487-489)agA>agG	p.R163R	AURKAIP1_ENST00000321751.5_Silent_p.R163R|AURKAIP1_ENST00000338338.5_Silent_p.R163R|AURKAIP1_ENST00000378853.3_Silent_p.R163R			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	163					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	p.R163R(1)		kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGCTTGCGTCTCAGGCGTC	0.602000													25	78					0	0	0.003954	0	0
F13B	2165	broad.mit.edu	37	1	197021821	197021821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021821C>A	ENST00000367412.1	-	9	1541	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	500	Sushi 8.				blood coagulation	extracellular region		p.E500*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGATAATTCAGACAATGGG	0.328000													13	66					0.00010058	0.000117217	0.001368	1	0
IFNA21	3452	broad.mit.edu	37	9	21166475	21166475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:21166475C>A	ENST00000380225.1	-	1	184	c.137G>T	c.(136-138)aGa>aTa	p.R46I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	46					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.R46I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGAGAGATTCTTCCCATTTG	0.522000													33	151					1.32136e-16	1.96933e-16	0.008740	1	0
TOP2B	7155	broad.mit.edu	37	3	25672356	25672356	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:25672356C>A	ENST00000435706.2	-	11	1527	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N	TOP2B_ENST00000264331.4_Missense_Mutation_p.K447N			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	447					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.K442N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTGATGAACACTTCTTATTCA	0.313000													14	69					7.93312e-07	9.759e-07	0.002450	1	0
GAS6	2621	broad.mit.edu	37	13	114535424	114535424	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:114535424C>T	ENST00000357389.3	-	10	1272	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.E32K|GAS6_ENST00000450766.1_Missense_Mutation_p.E58K|GAS6_ENST00000327773.6_Missense_Mutation_p.E331K|GAS6_ENST00000355761.4_Missense_Mutation_p.E277K			Q14393	GAS6_HUMAN	growth arrest-specific 6	374	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	p.E331K(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGATGCCCTCGGGGTCAAAG	0.652000													12	44					0	0	0.001368	0	0
OR51L1	119682	broad.mit.edu	37	11	5020955	5020955	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5020955G>C	ENST00000321543.1	+	1	743	c.743G>C	c.(742-744)tGt>tCt	p.C248S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C248S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCATATCTGTGTGGTGCTT	0.438000													11	44					0	0	0.008291	0	0
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:50048903G>A	ENST00000371564.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000396009.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647000													14	84					0	0	0.004007	0	0
STK4	6789	broad.mit.edu	37	20	43703736	43703736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:43703736G>C	ENST00000372806.3	+	11	1478	c.1383G>C	c.(1381-1383)gaG>gaC	p.E461D	STK4_ENST00000499879.2_Missense_Mutation_p.E406D|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	461	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.E461D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGATTGAAGAGATCCGGCAGA	0.532000													5	39					0	0	0.000602	0	0
OR2C3	81472	broad.mit.edu	37	1	247694862	247694862	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:247694862C>A	ENST00000366487.3	-	2	1313	c.952G>T	c.(952-954)Gcg>Tcg	p.A318S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A317S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAATTTGCGCCAGCTTGCCT	0.507000													4	45					0.000602214	0.000671534	0.000602	1	0
SLC46A1	113235	broad.mit.edu	37	17	26732045	26732045	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26732045G>C	ENST00000440501.1	-	2	765	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	SLC46A1_ENST00000321666.5_Missense_Mutation_p.L224V|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	224					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	p.L224V(1)		lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTGCATAGAGAGTCATGGCT	0.597000													24	77					0	0	0.002780	0	0
TBX22	50945	broad.mit.edu	37	X	79286509	79286509	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79286509G>T	ENST00000442340.1	+	9	1592	c.1102G>T	c.(1102-1104)Ggt>Tgt	p.G368C	TBX22_ENST00000373296.3_Missense_Mutation_p.G488C|TBX22_ENST00000373291.1_Missense_Mutation_p.G368C|TBX22_ENST00000373294.5_Missense_Mutation_p.G488C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	488					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G488C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTGATAAGTGGTTCCAACCA	0.383000													15	58					0.000308642	0.000349193	0.003163	1	0
PROP1	5626	broad.mit.edu	37	5	177419797	177419797	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:177419797C>T	ENST00000308304.2	-	3	902	c.594G>A	c.(592-594)ttG>ttA	p.L198L		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	198					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H199N(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGGCTGGGTGCAAGGTAGGGT	0.632000													5	26					0	0	0.001168	0	0
SNX25	83891	broad.mit.edu	37	4	186231881	186231881	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:186231881G>C	ENST00000504273.1	+	7	1057	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	SNX25_ENST00000264694.8_Missense_Mutation_p.E255Q|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	255					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E255Q(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAAGCAGTGTGAGAAGAGAAT	0.512000													9	51					0	0	0.004482	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090506	238090506	+	RNA	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:238090506C>A	ENST00000450451.1	+	0	2012					NR_027247.2																						ATGTTTGAGACCTTCAACTCC	0.607000													6	70					0.00116845	0.00128446	0.001168	1	0
CACNG5	27091	broad.mit.edu	37	17	64881158	64881158	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:64881158A>T	ENST00000533854.1	+	6	866	c.629A>T	c.(628-630)tAc>tTc	p.Y210F	CACNG5_ENST00000307139.3_Missense_Mutation_p.Y210F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	210				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.Y210F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAGGACATGTACAGGCCCCAC	0.632000													8	45					0	0	0.004482	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870189	151870189	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:151870189C>T	ENST00000329342.5	+	3	1104	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	293	MAGE.						protein binding	p.I293I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTAAAGATCAGTGGAGGAC	0.557000													57	200					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186023062	186023062	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:186023062G>T	ENST00000271588.4	+	44	7035	c.6806G>T	c.(6805-6807)tGt>tTt	p.C2269F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C2269F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2269	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.C2269F(1)		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						CTCTATTCATGTGTGGCGTCG	0.418000													8	50					0.000157383	0.000180699	0.003080	1	0
DKK2	27123	broad.mit.edu	37	4	107846973	107846973	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:107846973C>A	ENST00000285311.3	-	2	1061	c.356G>T	c.(355-357)aGt>aTt	p.S119I	DKK2_ENST00000513208.1_Missense_Mutation_p.S19I|DKK2_ENST00000510463.1_Missense_Mutation_p.S73I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	119	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.S119I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGCGGGTACTGGGGCAGCA	0.502000													28	184					3.69857e-22	5.73278e-22	0.008361	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C	rs116751564	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1																						CCTGGATGTCTGCGGCCACAC	0.637000													4	20					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62299707	62299707	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:62299707C>A	ENST00000378024.4	-	5	2456	c.2182G>T	c.(2182-2184)Ggc>Tgc	p.G728C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	728					nervous system development	nucleus	protein binding	p.G728C(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTTGGGCCTTTGAGTTCT	0.473000													74	388					5.04879e-28	8.04002e-28	0.003610	1	0
C6orf48	50854	broad.mit.edu	37	6	31805197	31805197	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31805197C>T	ENST00000375640.3	+	3	819	c.92C>T	c.(91-93)tCt>tTt	p.S31F	C6orf48_ENST00000375641.2_Missense_Mutation_p.S31F|C6orf48_ENST00000375638.3_Missense_Mutation_p.S31F|C6orf48_ENST00000395789.1_Missense_Mutation_p.S31F|C6orf48_ENST00000395788.3_Missense_Mutation_p.S31F|C6orf48_ENST00000375635.2_Missense_Mutation_p.S31F|C6orf48_ENST00000375639.2_Missense_Mutation_p.S31F|C6orf48_ENST00000375633.1_Missense_Mutation_p.S31F|C6orf48_ENST00000375642.2_Missense_Mutation_p.S31F	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	31								p.S31F(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CATGCCTGTTCTCCTTCCTTG	0.493000													17	148					0	0	0.010504	0	0
FAM71B	153745	broad.mit.edu	37	5	156590341	156590341	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156590341G>C	ENST00000302938.4	-	2	1030	c.935C>G	c.(934-936)gCg>gGg	p.A312G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	312	Ala-rich.					nucleus		p.A312G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCGCCAGCGCTGTGGTCAC	0.517000													29	132					0	0	0.008361	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966314	139966314	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:139966314G>C	ENST00000280614.2	+	3	1175	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	328					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.E328Q(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTTCAATGCAGAGCCAACAGA	0.522000													7	47					0	0	0.001984	0	0
FCRL2	79368	broad.mit.edu	37	1	157716565	157716565	+	Splice_Site	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:157716565C>A	ENST00000361516.3	-	12	1537		c.e12-1		FCRL2_ENST00000392274.3_Splice_Site|FCRL2_ENST00000368181.4_Splice_Site	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2						cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTGGGAGTCCTGGGAGAGAC	0.423000													16	56					6.31663e-08	8.1817e-08	0.003163	1	0
IGSF21	84966	broad.mit.edu	37	1	18691759	18691759	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:18691759C>A	ENST00000251296.1	+	6	966	c.583C>A	c.(583-585)Cta>Ata	p.L195I		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	195						extracellular region		p.L195I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCAGTGCCCCTATCAGAGCC	0.547000													16	77					1.5739e-10	2.13995e-10	0.004007	1	0
PTPRH	5794	broad.mit.edu	37	19	55711859	55711859	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:55711859C>A	ENST00000376350.3	-	7	1187	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V211L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	389	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V389L(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTTTCTCACTGGGTTGGGG	0.547000													14	69					7.93312e-07	9.759e-07	0.002450	1	0
CACNA1F	778	broad.mit.edu	37	X	49079432	49079432	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:49079432T>A	ENST00000376265.2	-	15	2135	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.S627C|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S681C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	692					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.S692C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCAAAGGTGCTTCGCTTGGTG	0.562000													4	11					0	0	0.009096	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734719	173734719	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:173734719C>A	ENST00000506823.1	+	7	1425	c.768C>A	c.(766-768)atC>atA	p.I256I	GALNTL6_ENST00000508122.1_Silent_p.I239I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	256						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I256I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAAAACCATCGTGTGTCCCA	0.443000													10	69					3.07112e-06	3.70927e-06	0.000978	1	0
TMEM132D	121256	broad.mit.edu	37	12	129558563	129558563	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:129558563C>T	ENST00000422113.2	-	9	3483	c.3157G>A	c.(3157-3159)Gtc>Atc	p.V1053I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V591I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1053						integral to membrane		p.V1053I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTGAGGAGACGGCGGTGAAG	0.512000													25	129					0	0	0.003954	0	0
SRPX2	27286	broad.mit.edu	37	X	99921880	99921880	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:99921880G>A	ENST00000373004.3	+	8	1339	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	304	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.R304Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACACCCTCCCGGGTCTGTCAG	0.597000													11	39					0	0	0.008291	0	0
ADAM32	203102	broad.mit.edu	37	8	39068732	39068732	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:39068732G>T	ENST00000379907.4	+	12	1249	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	374	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V373V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTCAAATGTGGGTGTCAAAT	0.383000													8	55					0.00307968	0.00331493	0.003080	1	0
AP1G1	164	broad.mit.edu	37	16	71772945	71772945	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:71772945C>A	ENST00000299980.4	-	21	2609	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L	AP1G1_ENST00000564155.1_Missense_Mutation_p.R148L|AP1G1_ENST00000433195.2_Missense_Mutation_p.R746L|AP1G1_ENST00000423132.2_Missense_Mutation_p.R726L|AP1G1_ENST00000393512.3_Missense_Mutation_p.R726L|AP1G1_ENST00000569748.1_Missense_Mutation_p.R723L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	723	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	p.R723L(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGTATTTGACCGTTCAAAGGT	0.443000													21	109					1.28384e-07	1.64007e-07	0.001882	1	0
ALMS1	7840	broad.mit.edu	37	2	73680829	73680829	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:73680829C>T	ENST00000264448.6	+	8	7283	c.7172C>T	c.(7171-7173)cCt>cTt	p.P2391L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2349L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P2391L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2391					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.P2391L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGTCTGAACCTGAAGGGTGT	0.403000													18	64					0	0	0.004990	0	0
RIT1	6016	broad.mit.edu	37	1	155880281	155880281	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155880281G>A	ENST00000368323.3	-	3	327	c.123C>T	c.(121-123)ttC>ttT	p.F41F	RIT1_ENST00000368322.3_Silent_p.F58F|RIT1_ENST00000539040.1_Silent_p.F5F|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	41					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.F41F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GGTGGCTGATGAACTGCATGG	0.368000													8	60					0	0	0.003080	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880441	74880441	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74880441C>T	ENST00000289575.5	+	5	1067	c.672C>T	c.(670-672)ccC>ccT	p.P224P	SLCO2B1_ENST00000428359.2_Silent_p.P202P|SLCO2B1_ENST00000525650.1_Silent_p.P80P|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.P108P|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	224					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P224P(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCAACTCGCCCCTCTACCTCG	0.607000													8	47					0	0	0.004482	0	0
CYBB	1536	broad.mit.edu	37	X	37639333	37639333	+	Translation_Start_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37639333G>T	ENST00000378588.4	+	1	70	c.3G>T	c.(1-3)atG>atT	p.M1I	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Start_Codon_SNP_p.M1I|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	1					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.M1I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGCCACCATGGGGAACTGGG	0.433000													6	41					0.00116845	0.00128446	0.001168	1	0
CNST	163882	broad.mit.edu	37	1	246829096	246829096	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:246829096C>T	ENST00000366513.4	+	11	2336	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	689				F -> L (in Ref. 1; BAC03735).	positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.F689F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACTGCACTTTCGGTGACATGG	0.458000													15	102					0	0	0.004007	0	0
MYH8	4626	broad.mit.edu	37	17	10299657	10299657	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10299657T>A	ENST00000403437.2	-	33	4737	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1548					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1548V(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTGCTTCCTCTAAAGCAGC	0.358000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	48					0	0	0.006214	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750984	140750984	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140750984T>C	ENST00000576222.1	+	1	1154	c.1023T>C	c.(1021-1023)aaT>aaC	p.N341N	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_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)			CAGATGAAAATGACAATGCCC	0.438000													14	60					0	0	0.001855	0	0
ATP4A	495	broad.mit.edu	37	19	36051326	36051326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:36051326G>T	ENST00000262623.3	-	6	754	c.726C>A	c.(724-726)tgC>tgA	p.C242*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	242					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C242*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTCGTGCGTGCACTCGGGTG	0.657000													13	100					2.27111e-07	2.89333e-07	0.001368	1	0
NCF1	653361	broad.mit.edu	37	7	74193606	74193606	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:74193606C>A	ENST00000289473.4	+	4	303	c.233C>A	c.(232-234)cCc>cAc	p.P78H	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	78	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	p.P78H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTGCCAGCTCCCAAGTGGTTT	0.672000													12	70					6.31663e-08	8.1817e-08	0.003163	1	0
COL3A1	1281	broad.mit.edu	37	2	189859511	189859511	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:189859511C>A	ENST00000304636.3	+	20	1579	c.1409C>A	c.(1408-1410)cCt>cAt	p.P470H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P470H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	470	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P470H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GATGGATCACCTGGAGAACCT	0.438000													12	64					0.00244969	0.0026677	0.002450	1	0
GPC4	2239	broad.mit.edu	37	X	132437228	132437228	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:132437228T>A	ENST00000370828.3	-	8	1958	c.1434A>T	c.(1432-1434)gcA>gcT	p.A478A	GPC4_ENST00000535467.1_Silent_p.A408A	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	478					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.A478A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCCCATTGTATGCATTCTTCA	0.438000													26	106					0	0	0.006320	0	0
ZNF503	84858	broad.mit.edu	37	10	77158903	77158903	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:77158903G>A	ENST00000372524.4	-	2	2031	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.I515I	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.I515I(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCCAGTTGCAGATGTGGGGGA	0.677000													8	46					0	0	0.004482	0	0
OTOP3	347741	broad.mit.edu	37	17	72943237	72943237	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:72943237C>T	ENST00000328801.4	+	6	1287	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	429						integral to membrane|intracellular	zinc ion binding	p.I429I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATGGGCATCGCCTATTTCT	0.612000													11	36					0	0	0.000978	0	0
DIDO1	11083	broad.mit.edu	37	20	61513077	61513077	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:61513077C>G	ENST00000266070.4	-	16	4556	c.4231G>C	c.(4231-4233)Gaa>Caa	p.E1411Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1411Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1411					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1411Q(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGCCCTTTCCACCTCGTGG	0.607000													12	165					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179438298	179438298	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179438298G>C	ENST00000589042.1	-	326	72785	c.72561C>G	c.(72559-72561)ctC>ctG	p.L24187L	TTN_ENST00000342992.6_Silent_p.L21619L|TTN_ENST00000342175.6_Silent_p.L15314L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L22546L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L15122L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L15247L|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22546	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L15122L(1)|p.L15247L(1)|p.L21619L(1)|p.L15314L(1)|p.L21617L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTTCAAGAGTTTAGTGA	0.408000													67	377					0	0	0.003610	0	0
AMER3	205147	broad.mit.edu	37	2	131521473	131521473	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:131521473G>A	ENST00000423981.1	+	2	1938	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	AMER3_ENST00000321420.4_Missense_Mutation_p.E610K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.E610K(1)									AGGTCACTCTGAAGGCTTGTT	0.577000													13	81					0	0	0.004007	0	0
TBX20	57057	broad.mit.edu	37	7	35293192	35293192	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:35293192G>A	ENST00000408931.3	-	1	566	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	14						nucleus	DNA binding	p.R14W(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCGTTGGCCCGAGAGGAGAGT	0.642000													10	44					0	0	0.001368	0	0
ABCC11	85320	broad.mit.edu	37	16	48256677	48256677	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:48256677C>T	ENST00000394747.1	-	5	958	c.609G>A	c.(607-609)gtG>gtA	p.V203V	ABCC11_ENST00000356608.2_Silent_p.V203V|ABCC11_ENST00000537808.1_Silent_p.V203V|ABCC11_ENST00000353782.5_Silent_p.V203V|ABCC11_ENST00000394748.1_Silent_p.V203V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	203	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V203V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGAGTCCCACTCCATGGA	0.458000													10	53					0	0	0.006214	0	0
NCL	4691	broad.mit.edu	37	2	232322437	232322437	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322437T>A	ENST00000322723.4	-	9	1604	c.1364A>T	c.(1363-1365)gAt>gTt	p.D455V		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	455	RRM 2.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.D455V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATCGCCCATCGATCTCTGT	0.408000													8	95					0	0	0.006214	0	0
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:11630169C>A	ENST00000423059.3	-	4	1622	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	TSP type-1 4.					integral to membrane		p.G457G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552000										HNSCC(18;0.044)			8	35					3.09899e-07	3.90523e-07	0.004482	1	0
PLCL2	23228	broad.mit.edu	37	3	17056292	17056292	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:17056292G>T	ENST00000418129.2	+	3	2994	c.2529G>T	c.(2527-2529)ggG>ggT	p.G843G	PLCL2_ENST00000432376.1_Silent_p.G843G|PLCL2_ENST00000396755.2_Silent_p.G843G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	969	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G843G(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTTTCTGGGGCCCGATAACA	0.537000													40	133					1.62957e-23	2.54279e-23	0.008740	1	0
AKAP17A	8227	broad.mit.edu	37	X	1712956	1712956	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:1712956G>A	ENST00000313871.3	+	2	797	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G201S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	201	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.G201S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGAGATGACGGGCCGCAACTT	0.597000													24	153					0	0	0.005443	0	0
PTPN3	5774	broad.mit.edu	37	9	112168882	112168882	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:112168882G>C	ENST00000412145.1	-	13	3812	c.1259C>G	c.(1258-1260)cCt>cGt	p.P420R	PTPN3_ENST00000394827.3_Missense_Mutation_p.P19R|PTPN3_ENST00000374541.2_Missense_Mutation_p.P551R|PTPN3_ENST00000262539.3_Missense_Mutation_p.P397R|PTPN3_ENST00000446349.1_Missense_Mutation_p.P375R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	551					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.P551R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCAGCTTAGGAATGCAGGT	0.537000													24	108					0	0	0.003330	0	0
TUSC3	7991	broad.mit.edu	37	8	15398024	15398024	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:15398024C>T	ENST00000382020.4	+	1	293	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	TUSC3_ENST00000506802.1_Missense_Mutation_p.L29F|TUSC3_ENST00000509380.1_Missense_Mutation_p.L29F|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000503731.1_Missense_Mutation_p.L29F	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	29					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.L29F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCCCTTCCTTCTCCTGCTGCT	0.687000													6	32					0	0	0.001168	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159524	242159524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:242159524C>A	ENST00000357246.3	-	4	449	c.385G>T	c.(385-387)Gag>Tag	p.E129*		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	129					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	p.E129*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTGCTGACTCCAGGCAGCCA	0.567000													6	71					5.9392e-07	7.3843e-07	0.001168	1	0
ZNF646	9726	broad.mit.edu	37	16	31088711	31088711	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:31088711G>A	ENST00000394979.2	+	1	1489	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E356K			O15015	ZN646_HUMAN	zinc finger protein 646	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E356K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGCTCTGCGGAGCTCAGCAC	0.632000													3	20					0	0	0.004672	0	0
NAT10	55226	broad.mit.edu	37	11	34167643	34167643	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34167643G>A	ENST00000257829.3	+	29	3188	c.2982G>A	c.(2980-2982)agG>agA	p.R994R	NAT10_ENST00000531159.2_Silent_p.R922R|NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	994	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.R994R(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACAAGAAAAGGAAGTTAGAGG	0.343000													8	26					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599636	136599636	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:136599636C>T	ENST00000531224.1	-	4	635	c.383G>A	c.(382-384)aGa>aAa	p.R128K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R126K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R128K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R126K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R126K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R128K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	128					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R128K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCGGCGAGATCTGCTTCTGGA	0.463000													34	367					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179584073G>A	ENST00000589042.1	-	83	24268	c.24044C>T	c.(24043-24045)tCa>tTa	p.S8015L	TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7698	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000													26	126					0	0	0.006320	0	0
TBCD	6904	broad.mit.edu	37	17	80772804	80772804	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:80772804G>T	ENST00000355528.4	+	13	1442	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	TBCD_ENST00000539345.2_Missense_Mutation_p.V438L|TBCD_ENST00000397466.2_Missense_Mutation_p.V52L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	438					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.V438L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTCTCGACTCGTGGATGGTGA	0.632000													9	40					0.00621372	0.00662701	0.006214	1	0
FAM114A1	92689	broad.mit.edu	37	4	38945163	38945163	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:38945163G>A	ENST00000358869.2	+	15	1853	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	FAM114A1_ENST00000515037.1_Silent_p.L352L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	559						cytoplasm		p.L559L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGTTGTTTGAAAGCACAGC	0.522000													12	69					0	0	0.000978	0	0
GPD1	2819	broad.mit.edu	37	12	50498490	50498490	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:50498490G>A	ENST00000301149.3	+	2	407	c.175G>A	c.(175-177)Gag>Aag	p.E59K	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.E59K	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	59					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	p.E59K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CACGCAGCATGAGAATGTCAA	0.547000													15	83					0	0	0.006122	0	0
CTNND2	1501	broad.mit.edu	37	5	11159692	11159692	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:11159692G>A	ENST00000304623.8	-	12	2344	c.2155C>T	c.(2155-2157)Cta>Tta	p.L719L	CTNND2_ENST00000359640.2_Silent_p.L719L|CTNND2_ENST00000458100.2_Silent_p.L286L|CTNND2_ENST00000511377.1_Silent_p.L628L|CTNND2_ENST00000503622.1_Silent_p.L382L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	719					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L719L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGACCTTAGGCACCCGGTG	0.527000													22	89					0	0	0.002299	0	0
MMRN1	22915	broad.mit.edu	37	4	90857868	90857868	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:90857868G>T	ENST00000394980.1	+	7	3356	c.3037G>T	c.(3037-3039)Gca>Tca	p.A1013S	MMRN1_ENST00000264790.2_Missense_Mutation_p.A1013S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.A755S			Q13201	MMRN1_HUMAN	multimerin 1	1013					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.A1013S(1)|p.A1013T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAAATTAACGCACTTAAGAA	0.383000													15	88					1.15088e-07	1.47426e-07	0.004007	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74876893	74876893	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74876893G>T	ENST00000289575.5	+	4	742	c.347G>T	c.(346-348)cGa>cTa	p.R116L	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94L|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R116L(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CACCGACCCCGAATGATTGGC	0.567000													24	141					2.12542e-12	2.9949e-12	0.006320	1	0
LRIT3	345193	broad.mit.edu	37	4	110790971	110790971	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:110790971G>C	ENST00000327908.3	+	4	1281	c.517G>C	c.(517-519)Gac>Cac	p.D173H	LRIT3_ENST00000409621.2_Missense_Mutation_p.D173H|LRIT3_ENST00000379920.3_Missense_Mutation_p.D311H|LRIT3_ENST00000594814.1_Missense_Mutation_p.D356H			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	311	LRRCT.					integral to membrane		p.D311H(1)|p.D173H(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AATACCACCAGACACTTCTGA	0.478000													38	213					0	0	0.004878	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453138	100453138	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:100453138T>A	ENST00000279907.7	-	14	2129	c.1917A>T	c.(1915-1917)acA>acT	p.T639T	UHRF1BP1L_ENST00000545232.2_Silent_p.T289T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	639								p.T639T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGCTGGTATATGTTTTACTAA	0.333000													10	70					0	0	0.008291	0	0
CTCFL	140690	broad.mit.edu	37	20	56090879	56090879	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56090879C>G	ENST00000426658.2	-	5	1732	c.1071G>C	c.(1069-1071)ttG>ttC	p.L357F	CTCFL_ENST00000422869.2_Missense_Mutation_p.L357F|CTCFL_ENST00000422109.2_Missense_Mutation_p.L357F|CTCFL_ENST00000539382.1_Missense_Mutation_p.L152F|CTCFL_ENST00000423479.2_Missense_Mutation_p.L357F|CTCFL_ENST00000371196.2_Missense_Mutation_p.L357F|CTCFL_ENST00000502686.2_Missense_Mutation_p.L95F|CTCFL_ENST00000243914.3_Missense_Mutation_p.L357F|CTCFL_ENST00000433949.2_Missense_Mutation_p.L357F|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000429804.2_Missense_Mutation_p.L357F			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	357					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L357F(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATGGCGCTTCAATTTACTTG	0.418000													27	140					0	0	0.005443	0	0
TEX11	56159	broad.mit.edu	37	X	69898725	69898725	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69898725T>A	ENST00000395889.2	-	16	1371	c.1216A>T	c.(1216-1218)Aga>Tga	p.R406*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.R391*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R406*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.R81*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	406							protein binding	p.R391*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GTCAGTTGTCTTCCTGTTTGG	0.428000													4	33					0	0	0.000602	0	0
MUC5B	727897	broad.mit.edu	37	11	1272929	1272929	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1272929C>G	ENST00000447027.1	+	31	14886	c.14828C>G	c.(14827-14829)tCt>tGt	p.S4943C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4940C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4940					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S4940C(1)|p.S4895C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCACTTCTCTACTCCCTGC	0.582000													10	41					0	0	0.000978	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587749	120587749	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:120587749C>T	ENST00000300648.6	-	35	4420	c.4408G>A	c.(4408-4410)Gat>Aat	p.D1470N		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1470					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.D1470N(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTTCCATCCCCAAAGCAC	0.547000													12	60					0	0	0.000978	0	0
SLC6A18	348932	broad.mit.edu	37	5	1225638	1225638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:1225638G>T	ENST00000324642.3	+	1	169	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	SLC6A18_ENST00000296821.4_Missense_Mutation_p.D16Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	16					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.D16Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACCTCGGGGATGAGAGGCC	0.642000													5	36					0.000157383	0.000180699	0.003080	1	0
MT-CYB	4519	broad.mit.edu	37	MT	14968	14968	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrM:14968T>C	ENST00000361789.2	+	1	222	c.222T>C	c.(220-222)aaT>aaC	p.74_74insN						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CGAGACGTAAATTATGGCTGA	0.483000													3	3					0	0	0.004672	0	0
DAXX	1616	broad.mit.edu	37	6	33289672	33289672	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:33289672C>T	ENST00000374542.5	-	2	235	c.31G>A	c.(31-33)Gat>Aat	p.D11N	DAXX_ENST00000266000.6_Missense_Mutation_p.D11N|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	11	Necessary for interaction with USP7.|Poly-Asp.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.D11N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCATCATCATCCAGCACGATG	0.612000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								24	83					0	0	0.003330	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406698	37406698	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:37406698A>T	ENST00000535679.1	-	4	431	c.432T>A	c.(430-432)gaT>gaA	p.D144E	SULT6B1_ENST00000407963.1_Missense_Mutation_p.D106E|SULT6B1_ENST00000260637.3_Missense_Mutation_p.D106E|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	144						cytoplasm	sulfotransferase activity	p.D106E(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATACTGCTGTATCTTTAGGGT	0.363000													24	75					0	0	0.009535	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880974	70880974	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:70880974G>T	ENST00000333538.5	+	4	1323	c.689G>T	c.(688-690)cGc>cTc	p.R230L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	230	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R230H(1)|p.R230L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCGCGCTCGCATTGAGGGC	0.582000													6	47					0.00116845	0.00128446	0.001168	1	0
SFSWAP	6433	broad.mit.edu	37	12	132262626	132262626	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132262626C>T	ENST00000261674.4	+	14	2300	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P720L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	720					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	p.P720L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTACGCCCTGCCCTCTA	0.448000													10	64					0	0	0.001368	0	0
ANKRD23	200539	broad.mit.edu	37	2	97509718	97509718	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97509718G>A	ENST00000318357.4	-	1	53	c.12C>T	c.(10-12)atC>atT	p.I4I	ANKRD23_ENST00000418232.1_Silent_p.I4I|ANKRD23_ENST00000331001.2_Silent_p.I4I	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	4						nucleus		p.I4I(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCTGAATGCTGATGAAGTCCA	0.602000													65	284					0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	44073894	44073894	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:44073894C>G	ENST00000262726.7	-	13	1654	c.1401G>C	c.(1399-1401)ctG>ctC	p.L467L	EFCAB6_ENST00000396231.2_Silent_p.L315L|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	467	EF-hand 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.L467L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTCTTCAATCAGATCAATAA	0.388000													7	41					0	0	0.001984	0	0
C14orf37	145407	broad.mit.edu	37	14	58605023	58605023	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:58605023C>A	ENST00000267485.7	-	2	1248	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	352						integral to membrane	binding	p.E351_G352>DC(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCTTCCATACCCTCATGGCTT	0.557000													29	133					2.4375e-19	3.71619e-19	0.007291	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694578	187694578	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:187694578C>A	ENST00000295131.2	-	8	1010	c.971G>T	c.(970-972)aGa>aTa	p.R324I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	324					apoptosis		zinc ion binding	p.R324I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGCAGTGATCTTACAATGTG	0.393000													11	83					0.00010058	0.000117217	0.001368	1	0
SMC1B	27127	broad.mit.edu	37	22	45755800	45755800	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:45755800T>A	ENST00000357450.4	-	18	2746	c.2747A>T	c.(2746-2748)cAa>cTa	p.Q916L	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q916L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	916					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.Q916L(1)|p.Q914L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAGAAGTTTGAATACTTAC	0.373000													5	29					0	0	0.000602	0	0
ATP10A	57194	broad.mit.edu	37	15	25963457	25963457	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:25963457C>T	ENST00000356865.6	-	8	1564	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	485					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G485S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGTGGCTGCCGATGCTGCCG	0.701000													4	19					0	0	0.009096	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73935550	73935550	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:73935550C>G	ENST00000476977.1	+	7	2620	c.929C>G	c.(928-930)aCt>aGt	p.T310S	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.T310S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T342S|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T310S|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	310						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T310S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGAAGCCCACTGGGCCTGGT	0.607000													11	56					0	0	0.008291	0	0
DENND4C	55667	broad.mit.edu	37	9	19324446	19324446	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:19324446T>C	ENST00000380432.2	+	9	1219	c.1186T>C	c.(1186-1188)Tgc>Cgc	p.C396R	DENND4C_ENST00000602925.1_Missense_Mutation_p.C632R|DENND4C_ENST00000434457.2_Missense_Mutation_p.C632R|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	396	dDENN.					integral to membrane		p.C396R(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTGAAGAATGCAGTTTTGT	0.294000													5	166					0	0	0.000602	0	0
INSRR	3645	broad.mit.edu	37	1	156814999	156814999	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:156814999C>A	ENST00000368195.3	-	12	2702	c.2306G>T	c.(2305-2307)cGt>cTt	p.R769L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	769					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R769L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCTCGCTCACGGGGCACCTT	0.706000													4	22					0.00024832	0.000283012	0.009096	1	0
SUV39H1	6839	broad.mit.edu	37	X	48558965	48558965	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48558965C>A	ENST00000376687.3	+	3	839	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	SUV39H1_ENST00000453214.2_Silent_p.G64G|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.L228M	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	217	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.L217M(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCGAGCCGGGCTGCCCATCTA	0.622000													8	45					3.09899e-07	3.90523e-07	0.004482	1	0
CADM3	57863	broad.mit.edu	37	1	159169551	159169551	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159169551G>T	ENST00000368125.4	+	8	1120	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.P355P	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	321					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.V356fs*45(1)|p.P355P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACCCCAGTCCGGTGCCCTCCT	0.527000													11	60					4.93089e-13	6.99044e-13	0.002450	1	0
OR5L2	26338	broad.mit.edu	37	11	55595424	55595424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55595424C>A	ENST00000378397.1	+	1	730	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H244N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGTGCCTCCCACCTCACAGC	0.498000										HNSCC(27;0.073)			16	150					2.31682e-05	2.73432e-05	0.003163	1	0
ITFG2	55846	broad.mit.edu	37	12	2927444	2927444	+	Splice_Site	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:2927444G>A	ENST00000228799.2	+	4	545		c.e4+1		ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2									p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCGACATCGGTGGGCATGCC	0.552000													3	26					0	0	0.004672	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130883763	130883763	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130883763C>T	ENST00000509018.1	-	6	677	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	FNIP1_ENST00000514667.1_Missense_Mutation_p.V208M|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V158M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V158M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V158M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V158M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V158M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	158					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.V158M(3)|p.V208M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTAACCTCCACATCATCAGTA	0.338000													15	85					0	0	0.004990	0	0
OR2B6	26212	broad.mit.edu	37	6	27925441	27925441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:27925441C>A	ENST00000244623.1	+	1	423	c.423C>A	c.(421-423)tgC>tgA	p.C141*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141*(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGACTCTGCCTCCAGTTGG	0.498000													30	171					7.26314e-15	1.04887e-14	0.007291	1	0
PSG8	440533	broad.mit.edu	37	19	43262225	43262225	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43262225C>G	ENST00000404209.4	-	3	734	c.638G>C	c.(637-639)gGa>gCa	p.G213A	PSG8_ENST00000306511.4_Missense_Mutation_p.G213A|PSG8_ENST00000406636.3_Missense_Mutation_p.G91A|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	213	Ig-like C2-type 1.					extracellular region		p.G213A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATAGGGTCCTGCAGTGTA	0.502000													67	396					0	0	0.003610	0	0
ERLEC1	27248	broad.mit.edu	37	2	54045061	54045061	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:54045061C>A	ENST00000185150.4	+	14	1538	c.1407C>A	c.(1405-1407)atC>atA	p.I469I	ERLEC1_ENST00000378239.5_Silent_p.I415I|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Silent_p.I443I|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	469					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.I469I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTGTAAAATCTTAGATACAG	0.333000													21	116					5.35047e-06	6.42886e-06	0.003330	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77359817	77359817	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:77359817T>A	ENST00000282849.5	-	13	2396	c.1978A>T	c.(1978-1980)Agc>Tgc	p.S660C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	660	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S660C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAAGGTTTGCTGTTATATTCT	0.393000													17	52					0	0	0.004990	0	0
TENM2	57451	broad.mit.edu	37	5	167689648	167689648	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:167689648G>C	ENST00000519204.1	+	28	7913	c.7795G>C	c.(7795-7797)Gag>Cag	p.E2599Q	TENM2_ENST00000518659.1_Missense_Mutation_p.E2720Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E2719Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E2481Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E2544Q					teneurin transmembrane protein 2									p.E2599Q(1)|p.E2553Q(1)|p.E2720Q(1)									GGACGGGAGAGAGGGGAGCCG	0.657000													5	12					0	0	0.000602	0	0
KRT78	196374	broad.mit.edu	37	12	53242432	53242432	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:53242432G>T	ENST00000304620.4	-	1	346	c.283C>A	c.(283-285)Cca>Aca	p.P95T		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	95	Head.					keratin filament	protein binding|structural molecule activity	p.P95K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ATCTTCAGTGGGGTCAGCAGA	0.587000													9	40					6.31663e-08	8.1817e-08	0.003163	1	0
MS4A5	64232	broad.mit.edu	37	11	60215231	60215231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60215231G>T	ENST00000300190.2	+	5	688	c.602G>T	c.(601-603)tGa>tTa	p.*201L		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	0						integral to membrane	receptor activity	p.*201L(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CAATGTTGTTGACTAGCACTG	0.363000													19	99					3.51602e-12	4.93942e-12	0.008871	1	0
PORCN	64840	broad.mit.edu	37	X	48372656	48372656	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48372656T>A	ENST00000367574.4	+	7	1007	c.502T>A	c.(502-504)Tcc>Acc	p.S168T	PORCN_ENST00000359882.4_Missense_Mutation_p.S244T|PORCN_ENST00000326194.6_Missense_Mutation_p.S250T|PORCN_ENST00000361988.3_Missense_Mutation_p.S239T|PORCN_ENST00000355092.3_Missense_Mutation_p.S244T|PORCN_ENST00000537758.1_Missense_Mutation_p.S250T|PORCN_ENST00000355961.4_Missense_Mutation_p.S245T			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	250			G -> R (in FODH).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.S250T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGTGCTGTCTCCTTCCACTT	0.582000													17	109					0	0	0.006122	0	0
BRINP1	1620	broad.mit.edu	37	9	122000939	122000939	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:122000939G>T	ENST00000265922.3	-	5	1140	c.679C>A	c.(679-681)Ctt>Att	p.L227I	DBC1_ENST00000373964.2_Missense_Mutation_p.L227I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		227	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.L227I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTACCTTGAAGGTGCAGTTTG	0.537000													4	29					0.00024832	0.000283012	0.009096	1	0
DOCK4	9732	broad.mit.edu	37	7	111555894	111555894	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:111555894C>G	ENST00000428084.1	-	13	1404	c.1132G>C	c.(1132-1134)Gta>Cta	p.V378L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.V378L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	378					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.V378L(1)|p.V366L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGAGAAAATACTGATGAATAT	0.383000													4	29					0	0	0.009096	0	0
OR52B4	143496	broad.mit.edu	37	11	4388697	4388697	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4388697G>C	ENST00000408920.2	-	1	919	c.829C>G	c.(829-831)Ccg>Gcg	p.P277A		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P277A(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAGCCAACGGGATGTGGATA	0.463000													9	105					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113702266	113702266	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702266T>A	ENST00000297405.5	-	14	2230	c.1986A>T	c.(1984-1986)gaA>gaT	p.E662D	CSMD3_ENST00000343508.3_Missense_Mutation_p.E622D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E558D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E662D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	662	Sushi 3.					integral to membrane|plasma membrane		p.E622D(1)|p.E662D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACCACAACTTTCTTTCTCAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	195					0	0	0.006230	0	0
TCF20	6942	broad.mit.edu	37	22	42607837	42607837	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42607837C>T	ENST00000359486.3	-	1	3611	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K	TCF20_ENST00000335626.4_Missense_Mutation_p.E1159K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.E1159K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CGCCCAGCCTCCTGGGCACTG	0.507000													19	92					0	0	0.007413	0	0
LYST	1130	broad.mit.edu	37	1	235972070	235972070	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:235972070G>C	ENST00000389794.3	-	5	2222	c.2048C>G	c.(2047-2049)tCt>tGt	p.S683C	LYST_ENST00000536965.1_Missense_Mutation_p.S683C|LYST_ENST00000389793.2_Missense_Mutation_p.S683C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	683					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.S683C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAATCTTCAGATCCACTGCT	0.393000													13	72					0	0	0.001855	0	0
VANGL2	57216	broad.mit.edu	37	1	160385936	160385936	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:160385936C>A	ENST00000368061.2	+	3	630	c.156C>A	c.(154-156)ccC>ccA	p.P52P		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	52					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.P52P(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGGAGCCCCTGCTGGACA	0.662000													9	59					0.000442599	0.000498326	0.006214	1	0
CSMD3	114788	broad.mit.edu	37	8	113702264	113702264	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702264C>A	ENST00000297405.5	-	14	2232	c.1988G>T	c.(1987-1989)aGt>aTt	p.S663I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S623I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S559I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S663I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	663	Sushi 3.					integral to membrane|plasma membrane		p.S623I(1)|p.S663I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCACCACAACTTTCTTTCTC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	200					9.85913e-13	1.39346e-12	0.009718	1	0
ATXN1	6310	broad.mit.edu	37	6	16327410	16327410	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:16327410C>T	ENST00000244769.4	-	8	2068	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V378I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	378					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.V378I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAGGCCCGGACCCCCGAAGGA	0.642000													35	165					0	0	0.003271	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862233	25862233	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:25862233G>C	ENST00000397060.4	-	4	437	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.Q110E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCTTGGATTTGAGGAGACCAG	0.463000													5	15					0	0	0.001984	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815330	130815330	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130815330C>G	ENST00000509018.1	-	16	2162	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q	FNIP1_ENST00000514667.1_Missense_Mutation_p.E703Q|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E368Q|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E653Q	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	653					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.E653Q(3)|p.E703Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATGTCTGTTCAATATCTCCT	0.358000													27	115					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179466608	179466608	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179466608C>G	ENST00000589042.1	-	285	55527		c.e285+1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(5)		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)			tatttttttaCCTGTGCATCT	0.313000													17	58					0	0	0.004007	0	0
RP1L1	94137	broad.mit.edu	37	8	10468217	10468217	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:10468217C>T	ENST00000382483.3	-	4	3614	c.3391G>A	c.(3391-3393)Gac>Aac	p.D1131N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1131					intracellular signal transduction			p.D1131N(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACCCAAGGTCTTCCTCAAAT	0.592000													20	92					0	0	0.007413	0	0
TLR8	51311	broad.mit.edu	37	X	12940138	12940138	+	Silent	SNP	G	G	A	rs148097000		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:12940138G>A	ENST00000218032.6	+	2	3066	c.2979G>A	c.(2977-2979)cgG>cgA	p.R993R	TLR8_ENST00000311912.5_Silent_p.R1011R	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	993	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.R1011R(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGAGGCTACGGCAGCGGATCT	0.463000													4	153					0	0	0.009096	0	0
SACS	26278	broad.mit.edu	37	13	23904722	23904722	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:23904722C>T	ENST00000382298.3	-	10	13881	c.13293G>A	c.(13291-13293)agG>agA	p.R4431R	SACS_ENST00000402364.1_Silent_p.R3681R|SACS_ENST00000382292.3_Silent_p.R4431R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4431					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R4431R(1)|p.R4284R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACAAAGAACCTTTGAGAGT	0.473000													20	128					0	0	0.007413	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31851205C>T	ENST00000382902.1	-	3	609	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E173K			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	173	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572000													6	26					0	0	0.001984	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255245	25255245	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:25255245C>A	ENST00000328086.7	-	6	2645	c.1842G>T	c.(1840-1842)caG>caT	p.Q614H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	614					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q614H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTGTAGGTTCCTGGGGTTCAA	0.537000													31	163					1.22384e-17	1.83575e-17	0.002836	1	0
PAM	5066	broad.mit.edu	37	5	102326009	102326009	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:102326009G>C	ENST00000438793.3	+	15	1987	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A	PAM_ENST00000348126.2_Missense_Mutation_p.G399A|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.G409A|PAM_ENST00000346918.2_Missense_Mutation_p.G506A|PAM_ENST00000455264.2_Missense_Mutation_p.G506A|PAM_ENST00000304400.7_Missense_Mutation_p.G506A	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	506	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.G506A(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATTGGCCTGGAGTATACTTG	0.438000													11	47					0	0	0.001855	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605137	116605137	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:116605137A>G	ENST00000369248.4	+	8	1360	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y342C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	342								p.Y342C(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTGGACTCATATAGTCATAAA	0.378000													13	71					0	0	0.004990	0	0
BRWD3	254065	broad.mit.edu	37	X	79937526	79937526	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79937526C>A	ENST00000373275.4	-	39	4681	c.4465G>T	c.(4465-4467)Gcc>Tcc	p.A1489S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1489								p.A1489S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTAGTCCTGGCATGAGATACT	0.373000													21	91					2.39556e-15	3.50295e-15	0.002780	1	0
IKBKAP	8518	broad.mit.edu	37	9	111670594	111670594	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:111670594T>A	ENST00000374647.5	-	13	1758	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.K135M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	484					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.K484M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTGTATCTCTTTTCCAAATG	0.433000													10	27					0	0	0.000978	0	0
NEK11	79858	broad.mit.edu	37	3	130873949	130873949	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:130873949C>T	ENST00000383366.4	+	10	1239	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	NEK11_ENST00000429253.2_Missense_Mutation_p.H316Y|NEK11_ENST00000508196.1_Missense_Mutation_p.H316Y|NEK11_ENST00000356918.4_Missense_Mutation_p.H316Y|NEK11_ENST00000507910.1_Missense_Mutation_p.H316Y|NEK11_ENST00000412440.2_Missense_Mutation_p.H168Y|NEK11_ENST00000511262.1_Missense_Mutation_p.H316Y|NEK11_ENST00000510688.1_Missense_Mutation_p.H316Y|NEK11_ENST00000510769.1_Intron	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	316					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.H316Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGAGGCTGCTCATATAATTAA	0.308000													9	47					0	0	0.004482	0	0
ACOT12	134526	broad.mit.edu	37	5	80631635	80631635	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:80631635C>T	ENST00000307624.3	-	12	1242	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGACAAGAGACGATAAGCCAA	0.353000													12	88					0	0	0.001855	0	0
NXPH3	11248	broad.mit.edu	37	17	47656116	47656116	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:47656116G>T	ENST00000328741.5	+	2	575	c.213G>T	c.(211-213)ccG>ccT	p.P71P	NXPH3_ENST00000513748.1_Silent_p.P71P	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	71	II.				neuropeptide signaling pathway	extracellular region		p.P71P(3)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TGCTGGCCCCGCCTGGGGAGG	0.682000													8	50					0.00307968	0.00331493	0.003080	1	0
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155874261C>A	ENST00000368323.3	-	5	474	c.270G>T	c.(268-270)atG>atT	p.M90I	RIT1_ENST00000368322.3_Missense_Mutation_p.M107I|RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433000													11	44					0.00136819	0.0015005	0.001368	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22866791	22866791	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:22866791C>A	ENST00000283645.4	+	17	2533	c.2403C>A	c.(2401-2403)ctC>ctA	p.L801L	TUBGCP5_ENST00000453949.2_Silent_p.L801L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	801					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.L801L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCTGACCCTCAGCTACAAGG	0.333000													7	46					0.000157383	0.000180699	0.003080	1	0
PAPD7	11044	broad.mit.edu	37	5	6743935	6743935	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:6743935G>A	ENST00000230859.6	+	6	606	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	159					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.M159I(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAATTTTAATGGCCATTAGCT	0.408000													31	104					0	0	0.003271	0	0
RYR2	6262	broad.mit.edu	37	1	237919600	237919600	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:237919600G>A	ENST00000366574.2	+	81	11475	c.11158G>A	c.(11158-11160)Gaa>Aaa	p.E3720K	RYR2_ENST00000542537.1_Missense_Mutation_p.E3704K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3726K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3720					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3718K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAGAAATGGAAAAGCAAAA	0.438000													12	33					0	0	0.001368	0	0
NRXN1	9378	broad.mit.edu	37	2	50850703	50850703	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:50850703C>A	ENST00000404971.1	-	7	2321	c.982G>T	c.(982-984)Gac>Tac	p.D328Y	NRXN1_ENST00000402717.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.D295Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.D295Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	295	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.D329Y(1)|p.D295Y(1)|p.D328Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGACAAGTCGTAGCAGAAG	0.383000													25	89					2.98393e-07	3.79106e-07	0.002780	1	0
MYH4	4622	broad.mit.edu	37	17	10351278	10351278	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10351278C>T	ENST00000255381.2	-	34	4932	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1608					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1608K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCTGATCTCAGCATCCAGT	0.453000													14	232					0	0	0.002450	0	0
SNHG14	104472715	broad.mit.edu	37	15	25313016	25313016	+	RNA	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:25313016C>G	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA																							TCGTTCTCATCAGAACTGAGG	0.507000													3	132					0	0	0.004672	0	0
ROBO4	54538	broad.mit.edu	37	11	124761263	124761263	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:124761263C>T	ENST00000306534.3	-	12	2365	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	ROBO4_ENST00000533054.1_Missense_Mutation_p.R482H|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	627					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R627H(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAGTCCCCTGCGGCTGCAGAG	0.637000													5	41					0	0	0.001168	0	0
PPRC1	23082	broad.mit.edu	37	10	103898375	103898375	+	Splice_Site	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:103898375G>C	ENST00000278070.2	+	3	381		c.e3-1		PPRC1_ENST00000413464.2_Splice_Site	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGGAGCAGAGCAGGTTAT	0.478000													9	77					0	0	0.006214	0	0
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:108271090C>G	ENST00000295746.8	-	20	2614	c.2538G>C	c.(2536-2538)ttG>ttC	p.L846F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L687F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	846						cytoplasm|integral to membrane	protein binding	p.L846F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTAATGCTCAACTCTTTTC	0.313000													8	56					0	0	0.004482	0	0
SYAP1	94056	broad.mit.edu	37	X	16778405	16778405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:16778405G>T	ENST00000380155.3	+	9	1075	c.982G>T	c.(982-984)Gaa>Taa	p.E328*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	328								p.E328*(1)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					TCAAGAATATGAAGTGGTGAC	0.348000													31	190					8.58068e-18	1.29127e-17	0.007291	1	0
SPAG16	79582	broad.mit.edu	37	2	215274946	215274946	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215274946C>A	ENST00000331683.5	+	16	1898	c.1803C>A	c.(1801-1803)ggC>ggA	p.G601G	SPAG16_ENST00000374309.3_Silent_p.G507G|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	601					cilium assembly	cilium axoneme|flagellar axoneme		p.G601G(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATTGATGGGCCACGAAAACG	0.502000													28	113					5.77227e-19	8.77159e-19	0.008361	1	0
SPEG	10290	broad.mit.edu	37	2	220353374	220353374	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:220353374C>A	ENST00000312358.7	+	33	8145	c.8013C>A	c.(8011-8013)acC>acA	p.T2671T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2671	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.T2671T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCCTGTACCGTGGCTGTGG	0.672000													3	35					0.004672	0.00499421	0.004672	1	0
JAK2	3717	broad.mit.edu	37	9	5126726	5126726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5126726C>T	ENST00000381652.3	+	25	3828	c.3334C>T	c.(3334-3336)Caa>Taa	p.Q1112*	JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000539801.1_Nonsense_Mutation_p.Q1112*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.Q963*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1112	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.Q1112*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TAATGTAAATCAACGCCCCTC	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				10	49					0	0	0.008291	0	0
JAM2	58494	broad.mit.edu	37	21	27066141	27066141	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:27066141G>A	ENST00000480456.1	+	4	865	c.315G>A	c.(313-315)ggG>ggA	p.G105G	JAM2_ENST00000312957.5_Silent_p.G105G|JAM2_ENST00000400532.1_Silent_p.G105G|JAM2_ENST00000425221.2_Silent_p.G69G	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	105	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.G105G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTGATGCGGGGAAATATCGTT	0.393000													20	110					0	0	0.001882	0	0
PHF2	5253	broad.mit.edu	37	9	96427980	96427980	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:96427980C>G	ENST00000359246.4	+	15	2317	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	650					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.L650L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAAGGCTCTCAGGCCCCCGA	0.637000													10	53					0	0	0.008291	0	0
RTN1	6252	broad.mit.edu	37	14	60193817	60193817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:60193817C>T	ENST00000267484.5	-	3	1920	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	529					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.E529K(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGCTGGGGCTCAGTTGAGGGG	0.692000													6	13					0	0	0.003080	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518100	233518100	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:233518100C>T	ENST00000366624.3	+	10	3015	c.2754C>T	c.(2752-2754)tgC>tgT	p.C918C	MLK4_ENST00000366622.1_Silent_p.C364C	NM_032435.2	NP_115811.2												p.C918C(1)									TGCCACTCTGCCCCTCACCTG	0.532000													16	81					0	0	0.004990	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645668	51645668	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:51645668G>C	ENST00000317643.6	+	1	111	c.42G>C	c.(40-42)gaG>gaC	p.E14D	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.E14D|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E14D	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	14					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.E14D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGGAGGGAGAGGGTGGAAG	0.602000													3	27					0	0	0.004672	0	0
TGM4	7047	broad.mit.edu	37	3	44951754	44951754	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:44951754C>A	ENST00000296125.4	+	11	1568	c.1500C>A	c.(1498-1500)gcC>gcA	p.A500A		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	500					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A500A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGACCGCTGCCCTACAGAATG	0.438000													22	90					1.85244e-09	2.48238e-09	0.003330	1	0
RANBP10	57610	broad.mit.edu	37	16	67763221	67763221	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:67763221C>A	ENST00000317506.3	-	10	1429	c.1314G>T	c.(1312-1314)aaG>aaT	p.K438N	RANBP10_ENST00000448631.2_Missense_Mutation_p.K382N|RANBP10_ENST00000536251.1_Missense_Mutation_p.K209N|RANBP10_ENST00000602677.1_Missense_Mutation_p.K438N|RANBP10_ENST00000411657.2_Missense_Mutation_p.K321N	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	438	Ser-rich.							p.K438N(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGTGCTGGGACTTGGTGGAGT	0.592000													11	74					4.68919e-08	6.15953e-08	0.008291	1	0
RFC1	5981	broad.mit.edu	37	4	39291474	39291474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:39291474C>G	ENST00000381897.1	-	24	3490	c.3357G>C	c.(3355-3357)atG>atC	p.M1119I	RFC1_ENST00000349703.2_Missense_Mutation_p.M1118I	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1119					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.M1119I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTACCTTGATCATGGCATCAG	0.398000													19	134					0	0	0.008871	0	0
ACSM1	116285	broad.mit.edu	37	16	20702413	20702413	+	Translation_Start_Site	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:20702413G>C	ENST00000219151.4	-	0	165				ACSM1_ENST00000307493.4_Nonsense_Mutation_p.S33*|ACSM1_ENST00000520010.1_Nonsense_Mutation_p.S33*			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S33*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCAAATTCTGATAAAGACCG	0.498000													5	223					0	0	0.000602	0	0
KAT6B	23522	broad.mit.edu	37	10	76789116	76789116	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:76789116G>T	ENST00000287239.4	+	18	5023	c.4534G>T	c.(4534-4536)Gca>Tca	p.A1512S	KAT6B_ENST00000372714.1_Missense_Mutation_p.A1220S|KAT6B_ENST00000372724.1_Missense_Mutation_p.A1220S|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1329S|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1220S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1512					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.A1512S(1)									AGGAGAACAGGCACAGAAGCA	0.547000													28	71					2.44723e-14	3.5231e-14	0.004656	1	0
CFB	629	broad.mit.edu	37	6	31918140	31918140	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31918140C>T	ENST00000456570.1	+	24	3145	c.3090C>T	c.(3088-3090)ttC>ttT	p.F1030F	CFB_ENST00000425368.2_Silent_p.F528F|CFB_ENST00000556679.1_Silent_p.F1030F|CFB_ENST00000477310.1_Silent_p.F879F			P00751	CFAB_HUMAN	complement factor B	528					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.F528F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CACATTGTTTCACTGTGGATG	0.537000													4	110					0	0	0.009096	0	0
MUC4	4585	broad.mit.edu	37	3	195475820	195475820	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:195475820A>G	ENST00000463781.3	-	24	16446	c.15987T>C	c.(15985-15987)tgT>tgC	p.C5329C	MUC4_ENST00000475231.1_Silent_p.C5277C|MUC4_ENST00000346145.4_Silent_p.C1093C|MUC4_ENST00000349607.4_Silent_p.C1042C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2086					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.C5201C(1)|p.C1093C(1)|p.C5329C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCCATGGTCACAGTAGCCCC	0.637000													6	91					0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11671895	11671895	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:11671895G>T	ENST00000262442.3	+	37	7364	c.7296G>T	c.(7294-7296)tgG>tgT	p.W2432C	DNAH9_ENST00000454412.2_Missense_Mutation_p.W2432C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2432					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W2432C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGAGCCTTGGTCCAAGCTCG	0.527000													7	71					1.12685e-05	1.34355e-05	0.004482	1	0
PDIA4	9601	broad.mit.edu	37	7	148702338	148702338	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:148702338C>A	ENST00000286091.4	-	9	1649	c.1417G>T	c.(1417-1419)Gat>Tat	p.D473Y		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	473					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D473Y(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCATTGACATCCTCCCCACTC	0.572000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	124					0.000586117	0.00065832	0.003954	1	0
RBFOX1	54715	broad.mit.edu	37	16	7568296	7568296	+	Missense_Mutation	SNP	C	C	A	rs137880529	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7568296C>A	ENST00000340209.4	+	2	487	c.190C>A	c.(190-192)Ccc>Acc	p.P64T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.P102T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P95T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P59T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P79T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P102T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P79T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P79T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P59T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P95T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P59T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.P79S(2)|p.P79T(2)|p.P59T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACCACGGTTCCCGAGCACAC	0.662000													38	144					2.52637e-11	3.49632e-11	0.005524	1	0
PNPT1	87178	broad.mit.edu	37	2	55874526	55874526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:55874526C>A	ENST00000447944.2	-	19	1644	c.1558G>T	c.(1558-1560)Gag>Tag	p.E520*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	520					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.E520*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACCCTTCTCAGGATCGGTT	0.348000													18	70					9.95505e-16	1.46956e-15	0.002299	1	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42538870A>C	ENST00000358097.4	-	0	449				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	22					0	0	0.000602	0	0
SH3GL3	6457	broad.mit.edu	37	15	84255823	84255823	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:84255823G>A	ENST00000324537.5	+	10	1229	c.737G>A	c.(736-738)aGc>aAc	p.S246N	SH3GL3_ENST00000434347.1_Missense_Mutation_p.S246N|SH3GL3_ENST00000427482.2_Missense_Mutation_p.S238N|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S238N			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	238	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.S246N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAGCTGCAGAGCAAGCTACAG	0.498000													11	17					0	0	0.008291	0	0
GPR115	221393	broad.mit.edu	37	6	47681809	47681809	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:47681809C>A	ENST00000283303.2	+	6	1086	c.828C>A	c.(826-828)ccC>ccA	p.P276P	GPR115_ENST00000327753.3_Silent_p.P276P|GPR115_ENST00000371220.1_Silent_p.P333P	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	276					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P276P(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TACAGATTCCCAGGCAAGAGC	0.453000													13	59					9.31168e-06	1.11309e-05	0.001855	1	0
GALNT9	50614	broad.mit.edu	37	12	132688113	132688113	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132688113G>T	ENST00000328957.8	-	7	1199	c.1200C>A	c.(1198-1200)gcC>gcA	p.A400A	GALNT9_ENST00000541995.1_Silent_p.A34A|GALNT9_ENST00000397325.2_Silent_p.A34A|GALNT9_ENST00000535228.1_Silent_p.A151A	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	400					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A34A(1)|p.A400A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ACACCTCGGCGGCGCGCAGGG	0.647000													7	47					8.12818e-05	9.52042e-05	0.001984	1	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99019290	99019290	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:99019290G>A	ENST00000453547.2	-	5	708	c.709C>T	c.(709-711)Cct>Tct	p.P237S	ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.P237S|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.P228S|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.P237S|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.P228S|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.P237S														p.P56S(1)|p.P237S(1)									CGATTAGGAGGAGGGAGAATG	0.413000													19	134					0	0	0.007413	0	0
CCDC13	152206	broad.mit.edu	37	3	42781129	42781129	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:42781129G>A	ENST00000310232.6	-	9	1244	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	387								p.L387L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCATACCATGAGGGCGTCGA	0.607000													6	48					0	0	0.003080	0	0
CDH2	1000	broad.mit.edu	37	18	25570157	25570157	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:25570157G>C	ENST00000269141.3	-	10	1925	c.1502C>G	c.(1501-1503)cCt>cGt	p.P501R	CDH2_ENST00000399380.3_Missense_Mutation_p.P470R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	501	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.P501R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATGATCTTAGGATTGGGGGC	0.453000													23	105					0	0	0.003330	0	0
OR4S2	219431	broad.mit.edu	37	11	55418616	55418616	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55418616G>C	ENST00000312422.2	+	1	237	c.237G>C	c.(235-237)atG>atC	p.M79I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M79I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTCCCAAGATGATTGTTGACC	0.428000													50	227					0	0	0.003610	0	0
OR52R1	119695	broad.mit.edu	37	11	4825626	4825626	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4825626G>T	ENST00000380382.1	-	1	221	c.222C>A	c.(220-222)gaC>gaA	p.D74E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D74E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTAATATGGTCTCTGCTGG	0.453000													12	72					4.3838e-07	5.49452e-07	0.001855	1	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:10600447G>T	ENST00000171111.5	-	4	1955	c.1408C>A	c.(1408-1410)Cgt>Agt	p.R470S	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000													11	37					0.000673444	0.000749166	0.008291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767112G>A	ENST00000521891.2	+	10	8403	c.7955G>A	c.(7954-7956)tGg>tAg	p.W2652*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.W2607*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.W2626*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.W2607*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2607						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W2636*(1)		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)			GTGCAAGTCTGGTTCCAGAAT	0.498000										HNSCC(33;0.089)			20	102					0	0	0.002780	0	0
AP2A2	161	broad.mit.edu	37	11	981252	981252	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:981252G>C	ENST00000448903.2	+	6	799	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	AP2A2_ENST00000332231.5_Missense_Mutation_p.E220Q|AP2A2_ENST00000534328.1_Missense_Mutation_p.E220Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	220					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.E220Q(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGAACCCAGAAGAGTTTAA	0.468000													3	25					0	0	0.009096	0	0
DARC	2532	broad.mit.edu	37	1	159175986	159175986	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159175986T>C	ENST00000537147.1	+	3	1600	c.757T>C	c.(757-759)Tgg>Cgg	p.W253R	DARC_ENST00000368122.2_Missense_Mutation_p.W253R|DARC_ENST00000368121.2_Missense_Mutation_p.W255R			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	253					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.W255R(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GTTTATTTTCTGGTGGCCTCA	0.552000													31	123					0	0	0.002096	0	0
OR4C6	219432	broad.mit.edu	37	11	55433216	55433216	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55433216A>G	ENST00000314259.3	+	1	603	c.574A>G	c.(574-576)Atc>Gtc	p.I192V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I192V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGACACCCACATCCTGGGCCT	0.443000													24	105					0	0	0.003330	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529996	80529996	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:80529996C>A	ENST00000295057.3	-	2	1605	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	LRRTM1_ENST00000409148.1_Missense_Mutation_p.D317Y|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	317	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.D317Y(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCCGCAATCCCACAGGTTC	0.632000										HNSCC(69;0.2)			7	33					0.00307968	0.00331493	0.003080	1	0
KBTBD6	89890	broad.mit.edu	37	13	41704889	41704889	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:41704889C>T	ENST00000379485.1	-	1	1993	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E521K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	587							protein binding	p.E587K(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATATCATATTCATACACAGTC	0.423000													20	147					0	0	0.010504	0	0
CCHCR1	54535	broad.mit.edu	37	6	31125269	31125269	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31125269C>T	ENST00000396268.3	-	1	297	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Intron|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.E37K	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.E37K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCCATGGCTCAGCAAGGCCT	0.577000													29	76					0	0	0.008361	0	0
FLG	2312	broad.mit.edu	37	1	152276956	152276956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:152276956G>T	ENST00000368799.1	-	3	10441	c.10406C>A	c.(10405-10407)tCc>tAc	p.S3469Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3469	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3469Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCTGGGATGTGGTGTG	0.572000									Ichthyosis				105	481					3.0473e-41	4.88618e-41	0.003610	1	0
SEMA5B	54437	broad.mit.edu	37	3	122646762	122646762	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:122646762G>A	ENST00000195173.4	-	8	1028	c.725C>T	c.(724-726)tCc>tTc	p.S242F	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S296F|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S242F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	242	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S296F(1)|p.S242F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCTGGGAGGAGATGACAGC	0.627000													6	87					0	0	0.001984	0	0
PDE2A	5138	broad.mit.edu	37	11	72289312	72289312	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:72289312G>T	ENST00000334456.5	-	30	2825	c.2580C>A	c.(2578-2580)atC>atA	p.I860I	PDE2A_ENST00000544570.1_Silent_p.I853I|PDE2A_ENST00000444035.2_Silent_p.I851I|PDE2A_ENST00000418754.2_Silent_p.I745I|PDE2A_ENST00000540345.1_Silent_p.I851I|PDE2A_ENST00000376450.3_Silent_p.I604I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	860	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I860I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGAAGCTGATTTGCAGCT	0.572000													26	119					2.24059e-21	3.46138e-21	0.006320	1	0
NOMO1	23420	broad.mit.edu	37	16	14951444	14951444	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14951444C>G	ENST00000287667.7	+	11	1323	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	384						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.L384L(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAGAGCACCTCTACTTTGAAA	0.448000													18	113					0	0	0.004656	0	0
ADAM29	11086	broad.mit.edu	37	4	175898086	175898086	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:175898086T>A	ENST00000359240.3	+	5	2080	c.1410T>A	c.(1408-1410)ggT>ggA	p.G470G	ADAM29_ENST00000404450.4_Silent_p.G470G|ADAM29_ENST00000445694.1_Silent_p.G470G|ADAM29_ENST00000514159.1_Silent_p.G470G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	470	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G470G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGTGCAATGGTACTTCCCATA	0.458000													23	120					0	0	0.002780	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620117	28620117	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28620117G>A	ENST00000395609.1	-	4	818	c.60C>T	c.(58-60)ctC>ctT	p.L20L	SULT1A1_ENST00000569554.1_Silent_p.L20L|SULT1A1_ENST00000395607.1_Silent_p.L20L|SULT1A1_ENST00000314752.7_Silent_p.L20L|SULT1A1_ENST00000350842.4_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	20					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	p.L20L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGTACTTGATGAGCGGGACCC	0.637000													8	93					0	0	0.000978	0	0
FAM9A	171482	broad.mit.edu	37	X	8764317	8764317	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:8764317T>C	ENST00000543214.1	-	6	615	c.480A>G	c.(478-480)caA>caG	p.Q160Q	FAM9A_ENST00000381003.3_Silent_p.Q160Q	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleolus		p.Q160Q(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ACCTTTTTAGTTGTTTTTTTT	0.289000													4	27					0	0	0.009096	0	0
ASPM	259266	broad.mit.edu	37	1	197113130	197113130	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197113130T>C	ENST00000367409.4	-	2	654	c.398A>G	c.(397-399)cAa>cGa	p.Q133R	ASPM_ENST00000294732.7_Missense_Mutation_p.Q133R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	133					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q133R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAATATAGCTTGGTGTTTCAG	0.303000													12	50					0	0	0.000978	0	0
IRS1	3667	broad.mit.edu	37	2	227661440	227661440	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:227661440G>C	ENST00000305123.4	-	1	3035	c.2015C>G	c.(2014-2016)tCt>tGt	p.S672C		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	672					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.S672C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AATGTCAGGAGAGCAGCCACC	0.612000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	82					0	0	0.008291	0	0
SI	6476	broad.mit.edu	37	3	164780173	164780173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:164780173G>A	ENST00000264382.3	-	9	1068	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	336	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q336*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGATACTGTTGAACTACTTGT	0.323000										HNSCC(35;0.089)			10	60					0	0	0.008291	0	0
THBS2	7058	broad.mit.edu	37	6	169648870	169648870	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:169648870A>C	ENST00000366787.3	-	4	500	c.251T>G	c.(250-252)tTc>tGc	p.F84C		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	84	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.F84C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTGAGGAAGAAGCCCTCCTT	0.622000													12	51					0	0	0.001368	0	0
OR13G1	441933	broad.mit.edu	37	1	247836020	247836020	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:247836020C>G	ENST00000359688.2	-	1	345	c.324G>C	c.(322-324)gaG>gaC	p.E108D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E108D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAGAACCATCTCAGCTCCCA	0.468000													7	41					0	0	0.003080	0	0
SYTL5	94122	broad.mit.edu	37	X	37985950	37985950	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37985950G>T	ENST00000357972.5	+	17	2706	c.2160G>T	c.(2158-2160)atG>atT	p.M720I	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.M742I|SYTL5_ENST00000297875.2_Missense_Mutation_p.M720I			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	720					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.M720I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GTGTACTCATGCTTCGTTCCA	0.512000													7	25					0.00198382	0.00216544	0.001984	1	0
SLIT2	9353	broad.mit.edu	37	4	20600010	20600010	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:20600010C>T	ENST00000504154.1	+	33	3936	c.3684C>T	c.(3682-3684)gcC>gcT	p.A1228A	SLIT2_ENST00000503823.1_Silent_p.A1220A|SLIT2_ENST00000503837.1_Silent_p.A1224A|SLIT2_ENST00000273739.5_Silent_p.A1241A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1228	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	p.A1228A(1)		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						CAGCTTCTGCCATTTACAGGT	0.453000													21	122					0	0	0.002299	0	0
SETD8	387893	broad.mit.edu	37	12	123892056	123892056	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:123892056G>C	ENST00000402868.3	+	8	1291	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	SETD8_ENST00000330479.4_Missense_Mutation_p.E289Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	330	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	p.E289Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TGCAACTAGAGAGACAAATCG	0.507000													8	55					0	0	0.003080	0	0
MYF6	4618	broad.mit.edu	37	12	81102736	81102736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:81102736G>C	ENST00000228641.3	+	3	948	c.726G>C	c.(724-726)aaG>aaC	p.K242N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	242					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.K242N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGGTGGAGAAGTAACTGAGCC	0.512000													10	48					0	0	0.006214	0	0
TEX10	54881	broad.mit.edu	37	9	103109394	103109394	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:103109394C>A	ENST00000374902.4	-	3	651	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	TEX10_ENST00000537512.1_Missense_Mutation_p.D94Y|TEX10_ENST00000535814.1_Missense_Mutation_p.D162Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.D159Y(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTAAAGAGTCCTCCTGAATT	0.408000													16	91					1.3612e-06	1.67008e-06	0.003163	1	0
TIPARP	25976	broad.mit.edu	37	3	156396125	156396125	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:156396125C>T	ENST00000461166.1	+	2	1227	c.639C>T	c.(637-639)gaC>gaT	p.D213D	TIPARP_ENST00000295924.7_Silent_p.D213D|TIPARP_ENST00000486483.1_Silent_p.D213D|TIPARP_ENST00000542783.1_Silent_p.D213D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	213							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.D213D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTTTCAGGACAAAAGTGAAG	0.423000													22	62					0	0	0.002299	0	0
NR2F2	7026	broad.mit.edu	37	15	96877535	96877535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:96877535G>T	ENST00000394166.3	+	2	2062	c.673G>T	c.(673-675)Gag>Tag	p.E225*	NR2F2_ENST00000421109.2_Nonsense_Mutation_p.E92*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.E72*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.E72*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	225	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.E225*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAGCGCCGTCGAGTGGGCCCG	0.612000													68	98					6.26901e-30	1.00175e-29	0.003610	1	0
MGAT5	4249	broad.mit.edu	37	2	135119848	135119848	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:135119848C>A	ENST00000409645.1	+	11	1501	c.1249C>A	c.(1249-1251)Cat>Aat	p.H417N	MGAT5_ENST00000281923.2_Missense_Mutation_p.H417N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	417					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.H417N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CACACCAGCTCATACCCCAGA	0.428000													59	290					2.12129e-23	3.29899e-23	0.003610	1	0
KIAA1109	84162	broad.mit.edu	37	4	123140583	123140583	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:123140583C>G	ENST00000264501.4	+	21	2709	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779C			Q2LD37	K1109_HUMAN	KIAA1109	779	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S779C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCAGCTCTGGGTGGACT	0.393000													26	118					0	0	0.004656	0	0
XRN2	22803	broad.mit.edu	37	20	21314221	21314221	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:21314221G>C	ENST00000377191.3	+	10	993	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	XRN2_ENST00000430571.2_Missense_Mutation_p.E224Q|XRN2_ENST00000539513.1_Missense_Mutation_p.E246Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	300					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.E300Q(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGCAGAAGGAGAGTTTATCTT	0.413000													22	149					0	0	0.002299	0	0
SHROOM2	357	broad.mit.edu	37	X	9862757	9862757	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:9862757C>A	ENST00000380913.3	+	4	899	c.809C>A	c.(808-810)cCc>cAc	p.P270H		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	270					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P270H(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTTTCCCGCCCAGGGTCCCC	0.672000													6	30					0.00116845	0.00128446	0.001168	1	0
PASD1	139135	broad.mit.edu	37	X	150780226	150780226	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:150780226G>T	ENST00000370357.4	+	4	452		c.e4+1			NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1							nucleus	signal transducer activity	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACATTTACCAGTAAGTTCTTT	0.328000													16	80					3.52763e-06	4.24961e-06	0.004990	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783224	115783224	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:115783224G>A	ENST00000343348.6	-	19	2965	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	SEMA6A_ENST00000513137.1_Silent_p.L153L|SEMA6A_ENST00000257414.8_Silent_p.L743L|SEMA6A_ENST00000503865.1_Silent_p.L105L|SEMA6A_ENST00000282394.6_Silent_p.L203L|SEMA6A_ENST00000510263.1_Silent_p.L726L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	726					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.L726L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGTTGTGCATGAGTGGCGTGA	0.627000													5	250					0	0	0.000602	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115361	54115361	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:54115361C>G	ENST00000548263.1	-	6	696	c.648G>C	c.(646-648)agG>agC	p.R216S	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.R216S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R183S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R216S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	216					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.R216S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGGATGTCCCTCTCTTCTG	0.537000													69	402					0	0	0.003610	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34101277	34101277	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34101277C>T	ENST00000341394.4	+	7	980	c.791C>T	c.(790-792)tCa>tTa	p.S264L	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S264L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S264L|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S264L|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S183L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	264					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	p.S264L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GAGGCAGCCTCAGCACCTGCA	0.428000													12	45					0	0	0.000978	0	0
SND1	27044	broad.mit.edu	37	7	127729612	127729612	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:127729612G>T	ENST00000354725.3	+	22	2684	c.2490G>T	c.(2488-2490)gtG>gtT	p.V830V		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	830					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.V830V(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGCTCAACGTGGAACACCTGA	0.607000													15	51					3.45872e-05	4.07165e-05	0.004007	1	0
SPEF2	79925	broad.mit.edu	37	5	35670195	35670195	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:35670195G>A	ENST00000440995.2	+	10	1390	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E464K|SPEF2_ENST00000282469.6_Missense_Mutation_p.E464K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E464K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	464					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E464K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTGGAAGGAACTATTTTT	0.353000													22	206					0	0	0.003330	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043664	26043664	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:26043664G>A	ENST00000357905.2	-	1	221	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I74I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCTCGCCCGCGATGCGCTCGA	0.592000													17	180					0	0	0.004007	0	0
GCNT1	2650	broad.mit.edu	37	9	79117887	79117887	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:79117887T>C	ENST00000442371.1	+	3	1529	c.590T>C	c.(589-591)cTc>cCc	p.L197P	GCNT1_ENST00000376730.4_Missense_Mutation_p.L197P|GCNT1_ENST00000536223.1_Missense_Mutation_p.L197P|GCNT1_ENST00000444201.2_Missense_Mutation_p.L197P	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	197	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.L197P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CAGGCTGACCTCAACTGCATG	0.453000													3	91					0	0	0.004672	0	0
HK3	3101	broad.mit.edu	37	5	176317681	176317681	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:176317681G>A	ENST00000292432.5	-	6	676	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	195	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.G195G(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACATCCTGGCCTTCCACAC	0.612000													7	271					0	0	0.004482	0	0
TMEM209	84928	broad.mit.edu	37	7	129825206	129825206	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:129825206C>G	ENST00000397622.2	-	7	899	c.775_splice	c.e7-1	p.G259_splice	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site_p.G258_splice|TMEM209_ENST00000473456.1_Splice_Site_p.G259_splice|TMEM209_ENST00000336804.8_Splice_Site_p.G258_splice	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	259						integral to membrane		p.G258G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AATCTGGGCTCCCTACAATTG	0.398000													30	118					0	0	0.002096	0	0
FAT3	120114	broad.mit.edu	37	11	92616312	92616312	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616312C>A	ENST00000298047.6	+	23	12707	c.12690C>A	c.(12688-12690)gtC>gtA	p.V4230V	FAT3_ENST00000409404.2_Silent_p.V4230V|FAT3_ENST00000533797.1_Silent_p.V565V|FAT3_ENST00000525166.1_Silent_p.V4080V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4230					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V4230V(2)|p.V805V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCGCAGGTCCCCGTGCGCC	0.657000										TCGA Ovarian(4;0.039)			27	148					1.30897e-18	1.98264e-18	0.009535	1	0
HERC3	8916	broad.mit.edu	37	4	89574133	89574133	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:89574133G>T	ENST00000402738.1	+	6	816	c.577G>T	c.(577-579)Gct>Tct	p.A193S	HERC3_ENST00000407637.1_Missense_Mutation_p.A193S|HERC3_ENST00000264345.3_Missense_Mutation_p.A193S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	193					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.A193S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GATCCCACTGGCTCAGGTGGC	0.617000													16	77					2.32078e-09	3.10105e-09	0.003163	1	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													4	93					0	0	0.009096	0	0
NTRK3	4916	broad.mit.edu	37	15	88483966	88483966	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:88483966C>A	ENST00000394480.1	-	15	1925	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M	NTRK3_ENST00000542733.2_Missense_Mutation_p.R437M|NTRK3_ENST00000557856.1_Missense_Mutation_p.R527M|NTRK3_ENST00000558676.1_Missense_Mutation_p.R527M|NTRK3_ENST00000355254.2_Missense_Mutation_p.R535M|NTRK3_ENST00000357724.2_Missense_Mutation_p.R527M|NTRK3_ENST00000360948.2_Missense_Mutation_p.R535M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	535					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R535M(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTCTCTCCTCTTAATGTG	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			38	158					1.47244e-24	2.30534e-24	0.006230	1	0
TFAP2C	7022	broad.mit.edu	37	20	55209278	55209278	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:55209278G>A	ENST00000201031.2	+	5	1119	c.876G>A	c.(874-876)ggG>ggA	p.G292G	TFAP2C_ENST00000544508.1_Silent_p.G123G	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	292					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G292G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TTCCGGCCGGGAGGCGGAAAG	0.468000													24	55					0	0	0.004656	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962061	26962061	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26962061C>T	ENST00000528896.2	-	16	2618	c.2544G>A	c.(2542-2544)ctG>ctA	p.L848L	KIAA0100_ENST00000389003.3_Silent_p.L705L|KIAA0100_ENST00000544884.1_Silent_p.L705L|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	848						extracellular region		p.L848L(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)					GTAGTCCCTTCAGCCACTTCT	0.507000													39	238					0	0	0.004878	0	0
SYT10	341359	broad.mit.edu	37	12	33592449	33592449	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:33592449G>A	ENST00000228567.3	-	1	305	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	3						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F3F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCTCCTTGTGGAAACTCATCG	0.542000													21	167					0	0	0.008871	0	0
WDFY3	23001	broad.mit.edu	37	4	85738544	85738544	+	Splice_Site	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:85738544C>A	ENST00000322366.6	-	13	2295		c.e13+1		WDFY3_ENST00000295888.4_Splice_Site			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.?(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAAACTTACCCTTAAAATA	0.398000													26	181					3.28513e-13	4.67151e-13	0.003954	1	0
GBA3	57733	broad.mit.edu	37	4	22748974	22748974	+	RNA	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:22748974C>T	ENST00000508166.1	+	0	444				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.P114H(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGTTACTCCCATTGTGACCC	0.378000													28	195					0	0	0.009535	0	0
FER1L6	654463	broad.mit.edu	37	8	125107185	125107185	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:125107185C>A	ENST00000522917.1	+	35	4807	c.4601C>A	c.(4600-4602)tCt>tAt	p.S1534Y	FER1L6_ENST00000399018.1_Missense_Mutation_p.S1534Y|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1534						integral to membrane		p.S1534Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTTTACACTCTTGGGAGGAT	0.498000													35	68					2.87052e-16	4.25093e-16	0.005524	1	0
OR51I1	390063	broad.mit.edu	37	11	5462512	5462512	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5462512G>C	ENST00000380211.1	-	1	232	c.233C>G	c.(232-234)tCt>tGt	p.S78C	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S78C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGTGTAGAAAAGGACAC	0.468000													3	100					0	0	0.004672	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369648	19369648	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19369648G>A	ENST00000291481.7	-	4	564	c.501C>T	c.(499-501)taC>taT	p.Y167Y	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	167	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.Y167Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CACGGGGGTGGTAGGGAAAGA	0.667000													4	10					0	0	0.000602	0	0
XPO6	23214	broad.mit.edu	37	16	28167672	28167672	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28167672T>C	ENST00000304658.5	-	7	1320	c.820A>G	c.(820-822)Atc>Gtc	p.I274V	XPO6_ENST00000565698.1_Missense_Mutation_p.I260V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	274					protein export from nucleus		protein binding|protein transporter activity	p.I274V(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAGTGGAAGATGGTGGTAAGG	0.567000													17	68					0	0	0.006122	0	0
TCOF1	6949	broad.mit.edu	37	5	149758590	149758590	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:149758590G>C	ENST00000451292.1	+	15	2571	c.2463G>C	c.(2461-2463)caG>caC	p.Q821H	TCOF1_ENST00000394269.3_Missense_Mutation_p.Q821H|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q744H|TCOF1_ENST00000323668.7_Missense_Mutation_p.Q744H|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q821H|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q821H|TCOF1_ENST00000504761.2_Missense_Mutation_p.Q821H|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q821H			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	821					skeletal system development	nucleolus	protein binding|transporter activity	p.Q821H(1)|p.Q744H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGCAGAGGTCTCCAT	0.597000													10	74					0	0	0.008291	0	0
NUDT21	11051	broad.mit.edu	37	16	56485055	56485055	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:56485055G>A	ENST00000300291.5	-	1	232	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	20	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	p.F20F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACTTGTTGCCGAACTGAGTGA	0.642000													17	115					0	0	0.010504	0	0
SRRM2	23524	broad.mit.edu	37	16	2815417	2815417	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815417C>T	ENST00000301740.8	+	11	5437	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1630	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R1630W(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGCCCCTCGGGCCCTTCC	0.562000													22	61					0	0	0.001882	0	0
RGS7	6000	broad.mit.edu	37	1	241099977	241099977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:241099977C>A	ENST00000366565.1	-	5	637	c.256G>T	c.(256-258)Gct>Tct	p.A86S	RGS7_ENST00000331110.7_Missense_Mutation_p.A60S|RGS7_ENST00000366562.4_Missense_Mutation_p.A86S|RGS7_ENST00000446183.2_Missense_Mutation_p.A2S|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Missense_Mutation_p.A86S|RGS7_ENST00000407727.1_Missense_Mutation_p.A86S|RGS7_ENST00000366564.1_Missense_Mutation_p.A86S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	86	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.A86S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCGTGGGCAGCCATTAATGTT	0.368000													30	127					1.06801e-11	1.49137e-11	0.009535	1	0
CDH8	1006	broad.mit.edu	37	16	61851450	61851450	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:61851450C>A	ENST00000577390.1	-	7	2164	c.1210G>T	c.(1210-1212)Gct>Tct	p.A404S	CDH8_ENST00000577730.1_Missense_Mutation_p.A404S|CDH8_ENST00000584337.1_Missense_Mutation_p.A404S|CDH8_ENST00000299345.6_Missense_Mutation_p.A404S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	404	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A404S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTAGAGCAGCATTTTCATGA	0.443000													15	73					7.93312e-07	9.759e-07	0.002450	1	0
GPSM1	26086	broad.mit.edu	37	9	139228961	139228961	+	Silent	SNP	C	C	T	rs138071426		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:139228961C>T	ENST00000440944.1	+	2	346	c.126C>T	c.(124-126)ggC>ggT	p.G42G	GPSM1_ENST00000392945.3_Silent_p.G42G	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	42	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	p.G19G(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCAAGGCGGGCGACTTCAAGA	0.632000													4	12					0	0	0.009096	0	0
DLL3	10683	broad.mit.edu	37	19	39996085	39996085	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:39996085C>T	ENST00000205143.4	+	6	1094	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	DLL3_ENST00000356433.5_Missense_Mutation_p.R363C	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	363	EGF-like 4.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.R363C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCATGCCGCAATGGTGA	0.617000													12	83					0	0	0.001368	0	0
FREM2	341640	broad.mit.edu	37	13	39262739	39262739	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:39262739G>C	ENST00000280481.7	+	1	1474	c.1258G>C	c.(1258-1260)Gca>Cca	p.A420P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	420					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A420P(1)		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)		TCTAGAAGGAGCAGCTTCAGA	0.532000													16	79					0	0	0.004007	0	0
NCL	4691	broad.mit.edu	37	2	232322434	232322434	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322434C>A	ENST00000322723.4	-	9	1607	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	456	RRM 2.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.G456L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AATAGATCGCCCATCGATCTC	0.403000													8	96					2.17888e-05	2.57806e-05	0.006214	1	0
SRPX	8406	broad.mit.edu	37	X	38016192	38016192	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:38016192G>A	ENST00000378533.3	-	8	1152	c.1046C>T	c.(1045-1047)aCa>aTa	p.T349I	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.T329I|SRPX_ENST00000432886.2_Missense_Mutation_p.T290I|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000538295.1_Missense_Mutation_p.T349I|SRPX_ENST00000343800.6_Missense_Mutation_p.T336I	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	349					cell adhesion	cell surface|membrane		p.T349I(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTTCGGGCTGTGGGTGTGGA	0.542000													16	57					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228432156	228432156	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:228432156T>C	ENST00000570156.2	+	12	3715	c.3641T>C	c.(3640-3642)aTg>aCg	p.M1214T	OBSCN_ENST00000284548.11_Missense_Mutation_p.M1122T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.M1122T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	160	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.M1122T(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAGTGGGCATGGAGGTCAAA	0.627000													14	97					0	0	0.002450	0	0
RP2	6102	broad.mit.edu	37	X	46719490	46719490	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:46719490G>C	ENST00000218340.3	+	3	997	c.836G>C	c.(835-837)aGg>aCg	p.R279T		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	279					cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.R279T(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GATGCTCAAAGGGTTTTTCGG	0.368000													4	71					0	0	0.001168	0	0
PTPRR	5801	broad.mit.edu	37	12	71286464	71286464	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:71286464C>T	ENST00000283228.2	-	2	804	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	118					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.V118M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTACCACCACAATTACATTT	0.408000													20	168					0	0	0.001882	0	0
BPHL	670	broad.mit.edu	37	6	3127546	3127546	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:3127546G>T	ENST00000380368.2	+	4	875	c.231G>T	c.(229-231)tgG>tgT	p.W77C	BPHL_ENST00000380375.3_Missense_Mutation_p.W77C|BPHL_ENST00000434640.1_Missense_Mutation_p.W77C|BPHL_ENST00000380379.5_Missense_Mutation_p.W94C			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	94					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	p.W77C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGGTCGCCTGGGATCCTCGAG	0.488000													17	96					1.15088e-07	1.47426e-07	0.004007	1	0
CDH10	1008	broad.mit.edu	37	5	24491768	24491768	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:24491768C>A	ENST00000264463.4	-	11	2300	c.1793G>T	c.(1792-1794)tGc>tTc	p.C598F	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	598	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C598F(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCAGCACTGCAGGATTGCAT	0.522000										HNSCC(23;0.051)			27	73					1.7367e-05	2.06538e-05	0.006320	1	0
CNOT2	4848	broad.mit.edu	37	12	70732251	70732251	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:70732251C>T	ENST00000229195.3	+	10	1508	c.929C>T	c.(928-930)tCa>tTa	p.S310L	CNOT2_ENST00000418359.3_Missense_Mutation_p.S310L|CNOT2_ENST00000551483.1_5'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	310					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.S310L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AAGACAACTTCAAGTACAGAT	0.333000													17	117					0	0	0.007413	0	0
SLC7A1	6541	broad.mit.edu	37	13	30106979	30106979	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:30106979T>C	ENST00000380752.5	-	4	897	c.511A>G	c.(511-513)Ata>Gta	p.I171V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	171					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.I171V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGAGAATTATGATCACTGCG	0.507000													20	124					0	0	0.010504	0	0
CELF2	10659	broad.mit.edu	37	10	11363183	11363183	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:11363183G>C	ENST00000379261.4	+	11	1181	c.1089G>C	c.(1087-1089)ctG>ctC	p.L363L	CELF2_ENST00000427450.1_Silent_p.L345L|CELF2_ENST00000450189.1_Silent_p.L376L|CELF2_ENST00000416382.2_Silent_p.L363L|CELF2_ENST00000399850.3_Silent_p.L345L|CELF2_ENST00000537122.1_Silent_p.L258L|CELF2_ENST00000417956.2_Silent_p.L343L|CELF2_ENST00000542579.1_Silent_p.L376L|CELF2_ENST00000354440.2_Silent_p.L345L|CELF2_ENST00000315874.3_Silent_p.L345L|CELF2_ENST00000354897.3_Silent_p.L357L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.L364L(1)|p.L363L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGGCGGCTCTGAATGGAGGAC	0.507000													24	100					0	0	0.006320	0	0
CHEK2	11200	broad.mit.edu	37	22	29130657	29130657	+	Missense_Mutation	SNP	C	C	G	rs151218932	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:29130657C>G	ENST00000382580.2	-	2	128	c.53G>C	c.(52-54)tGt>tCt	p.C18S	CHEK2_ENST00000402731.1_Missense_Mutation_p.C18S|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.C18S|CHEK2_ENST00000328354.6_Missense_Mutation_p.C18S|CHEK2_ENST00000382578.1_Missense_Mutation_p.C18S|CHEK2_ENST00000405598.1_Missense_Mutation_p.C18S|CHEK2_ENST00000382565.1_Missense_Mutation_p.C18S|CHEK2_ENST00000404276.1_Missense_Mutation_p.C18S|CHEK2_ENST00000348295.3_Missense_Mutation_p.C18S|CHEK2_ENST00000382566.1_Missense_Mutation_p.C18S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	18					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.C18S(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGGCTGTGAACAGGCACTGCT	0.557000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					31	88					0	0	0.002096	0	0
GNAZ	2781	broad.mit.edu	37	22	23438485	23438485	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:23438485C>T	ENST00000248996.4	+	2	1269	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	201						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGATGGTGGACGTGGGGGGGC	0.572000													21	150					0	0	0.008871	0	0
OR8J1	219477	broad.mit.edu	37	11	56127760	56127760	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:56127760T>C	ENST00000303039.3	+	1	70	c.38T>C	c.(37-39)aTt>aCt	p.I13T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I13T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACTGAGTTTATTCTTACAGGT	0.448000													22	121					0	0	0.005443	0	0
MAST1	22983	broad.mit.edu	37	19	12975954	12975954	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:12975954C>G	ENST00000251472.4	+	14	1639	c.1600C>G	c.(1600-1602)Cac>Gac	p.H534D		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	534	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.H534D(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ATATGAAGGCCACATCGAGAA	0.577000													17	49					0	0	0.006122	0	0
RELA	5970	broad.mit.edu	37	11	65423106	65423106	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:65423106C>T	ENST00000525693.1	-	10	1148	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	RELA_ENST00000308639.9_Intron|RELA_ENST00000406246.3_Intron			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	272					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						caCTGCTCCTCAGCTGAACAG	0.547000													6	12					0	0	0.001168	0	0
TFE3	7030	broad.mit.edu	37	X	48896717	48896717	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48896717G>A	ENST00000315869.7	-	3	708	c.449C>T	c.(448-450)cCt>cTt	p.P150L	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	150					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P150L(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGAGATGGCAGGAGAGGCAGG	0.672000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								5	29					0	0	0.000602	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792927	31792927	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:31792927G>A	ENST00000543095.2	-	24	3815	c.3631C>T	c.(3631-3633)Cgt>Tgt	p.R1211C	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918C|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1205C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205C	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205							binding	p.R1205C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTCATCACGTCTGGTGGTC	0.408000													24	84					0	0	0.004656	0	0
KIF14	9928	broad.mit.edu	37	1	200574420	200574420	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:200574420G>T	ENST00000367350.4	-	8	2175	c.1737C>A	c.(1735-1737)acC>acA	p.T579T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	579	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.T579T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCTTGGTCTGGGTCATCACCA	0.393000													15	67					0.000219431	0.000251319	0.002450	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131800	91131800	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:91131800C>T	ENST00000373094.1	+	2	1406	c.561C>T	c.(559-561)ctC>ctT	p.L187L	PCDH11X_ENST00000373097.1_Silent_p.L187L|PCDH11X_ENST00000298274.8_Silent_p.L187L|PCDH11X_ENST00000395337.2_Silent_p.L187L|PCDH11X_ENST00000361655.2_Silent_p.L187L|PCDH11X_ENST00000373088.1_Silent_p.L187L|PCDH11X_ENST00000361724.1_Silent_p.L187L|PCDH11X_ENST00000406881.1_Silent_p.L187L|PCDH11X_ENST00000504220.1_Silent_p.L187L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	187	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.L187L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTTTTGGCCTCGATGTCATTG	0.303000													10	63					0	0	0.001855	0	0
PJA1	64219	broad.mit.edu	37	X	68382067	68382067	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:68382067G>A	ENST00000361478.1	-	2	1392	c.1015C>T	c.(1015-1017)Ccg>Tcg	p.P339S	PJA1_ENST00000374571.4_Missense_Mutation_p.P284S|PJA1_ENST00000374583.1_Missense_Mutation_p.P339S|PJA1_ENST00000374584.3_Missense_Mutation_p.P151S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	339							zinc ion binding	p.P339S(1)|p.P151S(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CGTCGTCTCGGCACCTTTTCT	0.522000													5	43					0	0	0.000602	0	0
MCF2	4168	broad.mit.edu	37	X	138728982	138728982	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:138728982C>A	ENST00000520602.1	-	3	391	c.106G>T	c.(106-108)Gca>Tca	p.A36S	MCF2_ENST00000519895.1_Missense_Mutation_p.A36S|MCF2_ENST00000370578.4_Missense_Mutation_p.A121S|MCF2_ENST00000414978.1_Missense_Mutation_p.A36S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A36S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGTACTTTTGCTATTACTTCC	0.328000													5	18					0.000602214	0.000671534	0.000602	1	0
TSC22D1	8848	broad.mit.edu	37	13	45149890	45149890	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:45149890C>G	ENST00000458659.2	-	1	811	c.321G>C	c.(319-321)aaG>aaC	p.K107N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.K107N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	107					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.K107N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCACTTTTCTTTTTCATTT	0.527000													19	97					0	0	0.010504	0	0
RELN	5649	broad.mit.edu	37	7	103202032	103202032	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103202032C>A	ENST00000424685.2	-	36	5635	c.5476G>T	c.(5476-5478)Ggg>Tgg	p.G1826W	RELN_ENST00000343529.5_Missense_Mutation_p.G1826W|RELN_ENST00000428762.1_Missense_Mutation_p.G1826W			P78509	RELN_HUMAN	reelin	1826					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G1826W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCAGATTCCCCCTCTCTGCA	0.408000													13	92					0.000151284	0.000175868	0.001855	1	0
MUC2	4583	broad.mit.edu	37	11	1085772	1085772	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1085772G>C	ENST00000441003.2	+	21	2720	c.2693G>C	c.(2692-2694)gGc>gCc	p.G898A	MUC2_ENST00000359061.5_Missense_Mutation_p.G898A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	898	VWFD 3.					inner mucus layer|outer mucus layer	protein binding	p.G898A(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTCACTGGGCTCATTCAGC	0.642000													4	69					0	0	0.001168	0	0
LRP4	4038	broad.mit.edu	37	11	46917795	46917795	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:46917795A>T	ENST00000378623.1	-	9	1256	c.1014T>A	c.(1012-1014)ggT>ggA	p.G338G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	338	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G338G(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGCTGTTGTCACCACAGTCGT	0.587000													15	76					0	0	0.002450	0	0
STAM	8027	broad.mit.edu	37	10	17747606	17747606	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:17747606G>A	ENST00000377524.3	+	12	1290	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	STAM_ENST00000540523.1_Missense_Mutation_p.E248K	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	359					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.E359K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAACTCTCAGAACTTAATGT	0.323000													7	68					0	0	0.003080	0	0
SPNS1	83985	broad.mit.edu	37	16	28995569	28995569	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28995569G>T	ENST00000311008.11	+	12	1913	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	SPNS1_ENST00000334536.8_Silent_p.V460V|SPNS1_ENST00000323081.8_Silent_p.V439V|SPNS1_ENST00000352260.7_Silent_p.V438V|SPNS1_ENST00000565975.1_Silent_p.V557V|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	512					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	p.V512V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGATTGTGGTGCCCCAGCGGG	0.672000													4	47					2.7689e-08	3.65777e-08	0.001984	1	0
ITGA1	3672	broad.mit.edu	37	5	52183654	52183654	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:52183654G>T	ENST00000282588.6	+	8	1239	c.781G>T	c.(781-783)Gca>Tca	p.A261S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	261	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.A261S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAGAAAGGAGGCATTCACGGA	0.398000													11	26					3.07112e-06	3.70927e-06	0.000978	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609204	21609204	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:21609204G>T	ENST00000425654.2	+	14	2112	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E574D|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E525D|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E574D	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	574					regulation of signal transduction	cytoplasm|membrane	protein binding	p.E574D(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGACTGTGAGGGCTGGCTTT	0.393000													42	183					1.47244e-24	2.30534e-24	0.006230	1	0
SPATA32	124783	broad.mit.edu	37	17	43332645	43332645	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:43332645C>T	ENST00000543122.1	-	6	1622	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.E302K					spermatogenesis associated 32									p.E302K(1)									GCTCTGGCTTCGCGTGGTTTC	0.557000													53	177					0	0	0.003610	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874333	36874333	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:36874333A>T	ENST00000279024.4	-	2	470	c.199T>A	c.(199-201)Tgt>Agt	p.C67S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	67								p.C67S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGACTTACACAGGCTGCTTCT	0.582000													9	42					0	0	0.004482	0	0
NRK	203447	broad.mit.edu	37	X	105152952	105152952	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:105152952A>C	ENST00000428173.2	+	13	1625	c.1322A>C	c.(1321-1323)cAa>cCa	p.Q441P	NRK_ENST00000243300.9_Missense_Mutation_p.Q440P			Q7Z2Y5	NRK_HUMAN	Nik related kinase	440	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q440P(1)|p.Q441P(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAACGACTACAAGGGGCAGCT	0.562000										HNSCC(51;0.14)			6	27					0	0	0.001168	0	0
EIF3B	8662	broad.mit.edu	37	7	2409266	2409266	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:2409266G>A	ENST00000360876.4	+	10	1619	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	EIF3B_ENST00000397011.2_Silent_p.K521K	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	521					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.K521K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATTGGCAGAAGAACGGAGACT	0.502000													15	119					0	0	0.004990	0	0
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:102122937C>T	ENST00000392927.3	-	8	738	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SYCP3_ENST00000392924.1_Missense_Mutation_p.E203K|SYCP3_ENST00000266743.2_Missense_Mutation_p.E203K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279000													10	62					0	0	0.001855	0	0
APPBP2	10513	broad.mit.edu	37	17	58571907	58571907	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:58571907G>C	ENST00000083182.3	-	3	586	c.299C>G	c.(298-300)tCa>tGa	p.S100*		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	100					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.S100*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CCTACTGAATGAGTAGGCCAA	0.373000													13	74					0	0	0.002450	0	0
PDE10A	10846	broad.mit.edu	37	6	165827131	165827131	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:165827131C>G	ENST00000366882.1	-	14	1260	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	PDE10A_ENST00000539869.2_Missense_Mutation_p.C379S|PDE10A_ENST00000354448.4_Missense_Mutation_p.C369S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	369	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.C369S(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATGGGCATGCACAGGATGTT	0.458000													7	33					0	0	0.001984	0	0
COBL	23242	broad.mit.edu	37	7	51096436	51096436	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:51096436C>A	ENST00000395542.2	-	12	2787	c.2603G>T	c.(2602-2604)aGc>aTc	p.S868I	COBL_ENST00000265136.7_Missense_Mutation_p.S786I			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	786								p.S786I(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTGGCAGAGCTCTCTGAGGG	0.587000													9	66					0.000442599	0.000498326	0.006214	1	0
NAV3	89795	broad.mit.edu	37	12	78513530	78513530	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:78513530G>C	ENST00000397909.2	+	15	3727	c.3554G>C	c.(3553-3555)gGg>gCg	p.G1185A	NAV3_ENST00000266692.7_Missense_Mutation_p.G1185A|NAV3_ENST00000536525.2_Missense_Mutation_p.G1185A|NAV3_ENST00000228327.6_Missense_Mutation_p.G1185A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1185	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.G1185A(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTAAAATTGGGTCAGGGCGC	0.507000										HNSCC(70;0.22)			15	55					0	0	0.002450	0	0
MPP1	4354	broad.mit.edu	37	X	154018236	154018236	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:154018236G>A	ENST00000413259.3	-	6	775	c.383C>T	c.(382-384)gCa>gTa	p.A128V	MPP1_ENST00000393531.1_Missense_Mutation_p.A158V|MPP1_ENST00000369534.3_Missense_Mutation_p.A158V|MPP1_ENST00000462825.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	158	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	p.A158V(1)		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)					CACCTGTAGTGCAGGAAGACG	0.378000													8	30					0	0	0.004482	0	0
NCAPH	23397	broad.mit.edu	37	2	97019094	97019094	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97019094G>T	ENST00000455200.1	+	8	1223	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	NCAPH_ENST00000427946.1_Missense_Mutation_p.G185W|NCAPH_ENST00000240423.4_Missense_Mutation_p.G321W			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	321					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.G321W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTCCCTGGCCGGGTTCCAGTT	0.517000													3	28					0.004672	0.00499421	0.004672	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101834533	101834533	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:101834533C>A	ENST00000506729.1	-	1	187	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A6S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A6S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A6S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A6S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	6						integral to membrane|plasma membrane	transporter activity	p.A6S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGTGCCGGGCGACGCCTACG	0.706000													29	117					8.16721e-17	1.22114e-16	0.002096	1	0
DEFB119	245932	broad.mit.edu	37	20	29965242	29965242	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:29965242C>G	ENST00000339144.3	-	3	208	c.101_splice	c.e3-1	p.R34_splice	DEFB119_ENST00000376321.3_Splice_Site_p.G21_splice|DEFB119_ENST00000492344.1_5'UTR			Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region		p.R34S(1)|p.G21A(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGCGTTTGCCTGCCAAAGG	0.433000													19	88					0	0	0.007413	0	0
MS4A8	83661	broad.mit.edu	37	11	60482498	60482498	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60482498C>T	ENST00000300226.2	+	6	742	c.539C>T	c.(538-540)cCt>cTt	p.P180L		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8									p.P180L(1)									cTACAGAACCCTGGAATGGCG	0.587000													13	74					0	0	0.001855	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703039	27703039	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:27703039G>T	ENST00000438700.3	-	1	258	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	47					spermatid development	integral to membrane	hedgehog receptor activity	p.P47P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGGTGCCAGGGGTCCCGGGG	0.682000													17	128					1.01871e-10	1.39324e-10	0.008871	1	0
DFNB31	25861	broad.mit.edu	37	9	117241034	117241034	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:117241034C>T	ENST00000362057.3	-	2	804	c.636G>A	c.(634-636)aaG>aaA	p.K212K	DFNB31_ENST00000374057.3_Silent_p.K212K|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	212	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.K212K(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCACCAGCTTCTTGGAGCCCT	0.627000													10	16					0	0	0.000978	0	0
ANKRD12	23253	broad.mit.edu	37	18	9195663	9195663	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:9195663C>T	ENST00000383440.2	+	3	459	c.202C>T	c.(202-204)Cca>Tca	p.P68S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P68S|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P68S|ANKRD12_ENST00000540578.2_3'UTR	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	68						nucleus		p.P68S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACTATTAGCCCATCAAGAAA	0.353000													6	63					0	0	0.001168	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	40					0	0	0.003954	0	0
CD5L	922	broad.mit.edu	37	1	157804207	157804207	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:157804207G>C	ENST00000368174.4	-	4	804	c.708C>G	c.(706-708)gtC>gtG	p.V236V		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	236	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.V236V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCACATTCGACCCACGTGT	0.458000													3	22					0	0	0.009096	0	0
NLRP4	147945	broad.mit.edu	37	19	56370564	56370564	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:56370564T>A	ENST00000301295.6	+	3	2227	c.1805T>A	c.(1804-1806)cTc>cAc	p.L602H	NLRP4_ENST00000346986.5_Missense_Mutation_p.L602H|NLRP4_ENST00000587891.1_Missense_Mutation_p.L527H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	602							ATP binding	p.L602H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGAGGAAACTCTGTTTTTCC	0.408000													15	65					0	0	0.004007	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906652	13906652	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:13906652G>A	ENST00000279593.3	-	3	818	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	203					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L203L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTCCAGTAGGAGGACCTCCT	0.478000													19	124					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92616507	92616507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616507C>A	ENST00000298047.6	+	23	12902	c.12885C>A	c.(12883-12885)tgC>tgA	p.C4295*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.C4295*|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Nonsense_Mutation_p.C630*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.C4145*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4295					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.C4295*(2)|p.C870*(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCACCCTGCCGCTCCGACT	0.637000										TCGA Ovarian(4;0.039)			13	26					3.27435e-08	4.31324e-08	0.002450	1	0
COL2A1	1280	broad.mit.edu	37	12	48370306	48370306	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:48370306A>T	ENST00000380518.3	-	49	3644	c.3480T>A	c.(3478-3480)tcT>tcA	p.S1160S	COL2A1_ENST00000337299.6_Silent_p.S1091S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1160	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.S1160S(1)|p.S1091S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCTAGGGCCAGAAGGACCAG	0.547000													5	41					0	0	0.000602	0	0
KHSRP	8570	broad.mit.edu	37	19	6422415	6422415	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:6422415C>T	ENST00000398148.3	-	2	374	c.282G>A	c.(280-282)acG>acA	p.T94T		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	94	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	p.T94T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TATTCACTGTCGTGGCAGCAT	0.473000													23	90					0	0	0.003954	0	0
BEND6	221336	broad.mit.edu	37	6	56857323	56857323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:56857323C>T	ENST00000370748.3	+	3	703	c.268C>T	c.(268-270)Cga>Tga	p.R90*	BEND6_ENST00000370745.1_Nonsense_Mutation_p.R90*|BEND6_ENST00000370746.3_Nonsense_Mutation_p.R90*|BEND6_ENST00000370750.2_Nonsense_Mutation_p.R90*			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	90								p.R90*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAAAACAGCCGACTTCGACA	0.363000													33	210					0	0	0.003755	0	0
CSMD3	114788	broad.mit.edu	37	8	113349928	113349928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113349928G>C	ENST00000297405.5	-	43	6929	c.6685C>G	c.(6685-6687)Ccg>Gcg	p.P2229A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2189A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2125A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2159A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2229	Sushi 12.					integral to membrane|plasma membrane		p.P2229A(1)|p.P2189A(1)|p.P2229T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCGAAACGGGCGTGGATCA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	93					0	0	0.006122	0	0
MKL2	57496	broad.mit.edu	37	16	14340374	14340374	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14340374G>T	ENST00000571589.1	+	12	1429	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	MKL2_ENST00000318282.5_Silent_p.V419V|MKL2_ENST00000341243.5_Silent_p.V408V|MKL2_ENST00000574045.1_Silent_p.V419V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	408	SAP.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.V419V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGCCAGTGTCAGGCACCA	0.498000													9	51					7.48243e-07	9.27821e-07	0.006214	1	0
CACHD1	57685	broad.mit.edu	37	1	65098409	65098409	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:65098409A>G	ENST00000371073.2	+	6	772	c.772A>G	c.(772-774)Atc>Gtc	p.I258V	CACHD1_ENST00000290039.5_Missense_Mutation_p.I207V|CACHD1_ENST00000495994.1_Intron			Q5VU97	CAHD1_HUMAN	cache domain containing 1	258	VWFA.				calcium ion transport	integral to membrane		p.I207V(1)		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						CCTCAGCGCCATCGATGAACA	0.473000													8	62					0	0	0.006214	0	0
ZNF275	10838	broad.mit.edu	37	X	152613093	152613093	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:152613093G>A	ENST00000421401.3	+	4	1127	c.950G>A	c.(949-951)gGc>gAc	p.G317D	ZNF275_ENST00000440091.1_Missense_Mutation_p.G347D|ZNF275_ENST00000370249.2_Missense_Mutation_p.G264D|ZNF275_ENST00000370251.2_Missense_Mutation_p.G317D	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	317						intracellular	nucleic acid binding|zinc ion binding	p.G264D(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCCACACGGGCGAGAAGCCC	0.682000													3	9					0	0	0.004672	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399054	22399054	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:22399054C>A	ENST00000263160.3	+	12	1954	c.1517C>A	c.(1516-1518)gCa>gAa	p.A506E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	506					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.A506E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAACCCTGGGCAGACCCGGAG	0.408000													9	49					0.000274275	0.000311068	0.004482	1	0
PDS5B	23047	broad.mit.edu	37	13	33268412	33268412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:33268412G>A	ENST00000315596.10	+	14	1708	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	508					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.D508N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCAAGTAAAGGATTTGCTTGA	0.284000													29	141					0	0	0.003755	0	0
NCL	4691	broad.mit.edu	37	2	232322435	232322435	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322435C>A	ENST00000322723.4	-	9	1606	c.1366G>T	c.(1366-1368)Ggg>Tgg	p.G456W		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	456	RRM 2.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.G456L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATAGATCGCCCATCGATCTCT	0.403000													8	97					2.17888e-05	2.57806e-05	0.006214	1	0
MYH6	4624	broad.mit.edu	37	14	23853733	23853733	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:23853733A>T	ENST00000405093.3	-	36	5553	c.5483T>A	c.(5482-5484)cTg>cAg	p.L1828Q	MYH6_ENST00000356287.3_Missense_Mutation_p.L1828Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1828					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1828Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCGGCCTCCAGCTCACCCTC	0.667000													45	103					0	0	0.002852	0	0
VPS4B	9525	broad.mit.edu	37	18	61058216	61058216	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:61058216C>T	ENST00000238497.5	-	11	1530	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	443					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.E443K(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GCTTAGCCTTCTTGACCAAAA	0.343000													6	36					0	0	0.001984	0	0
KRT26	353288	broad.mit.edu	37	17	38926533	38926533	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:38926533A>G	ENST00000335552.4	-	3	701	c.653T>C	c.(652-654)tTg>tCg	p.L218S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	218	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.L218S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GAGGTAGGTCAATTCCTCACT	0.473000													20	87					0	0	0.008871	0	0
KRT78	196374	broad.mit.edu	37	12	53242431	53242431	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:53242431G>T	ENST00000304620.4	-	1	347	c.284C>A	c.(283-285)cCa>cAa	p.P95Q		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	95	Head.					keratin filament	protein binding|structural molecule activity	p.P95K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AATCTTCAGTGGGGTCAGCAG	0.587000													8	40					6.31663e-08	8.1817e-08	0.003163	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553224	140553224	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140553224G>A	ENST00000231137.3	+	1	982	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		270	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D270N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGATTTAGATACCGGAAG	0.468000													20	65					0	0	0.010504	0	0
MTO1	25821	broad.mit.edu	37	6	74175962	74175962	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:74175962G>T	ENST00000498286.1	+	2	525	c.248G>T	c.(247-249)gGc>gTc	p.G83V	MTO1_ENST00000370305.1_Missense_Mutation_p.G9V|MTO1_ENST00000415954.2_Missense_Mutation_p.G83V|MTO1_ENST00000370300.4_Missense_Mutation_p.G83V|MTO1_ENST00000518210.1_3'UTR			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	83					tRNA processing	mitochondrion	flavin adenine dinucleotide binding	p.G83V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TCCTTTGGTGGCATCGGAAAG	0.388000													18	126					1.67942e-08	2.22487e-08	0.006122	1	0
ADH4	127	broad.mit.edu	37	4	100062826	100062826	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:100062826G>T	ENST00000508393.1	-	4	350	c.185C>A	c.(184-186)gCt>gAt	p.A62D	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.A43D|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.A62D|ADH4_ENST00000505590.1_Missense_Mutation_p.A62D			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	43					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.A43D(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGAGAGGTAGCAATGATCTA	0.398000													7	29					0.00307968	0.00331493	0.003080	1	0
WNK1	65125	broad.mit.edu	37	12	1005335	1005335	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:1005335G>A	ENST00000537687.1	+	24	7105	c.6462G>A	c.(6460-6462)gtG>gtA	p.V2154V	WNK1_ENST00000535572.1_Silent_p.V1646V|WNK1_ENST00000340908.4_Silent_p.V1487V|WNK1_ENST00000530271.2_Silent_p.V2392V|WNK1_ENST00000315939.6_Silent_p.V1894V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1894					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.V2154V(1)|p.V1894V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTCCTCAGTGCTATCAAGTA	0.468000													36	58					0	0	0.004878	0	0
HAPLN4	404037	broad.mit.edu	37	19	19368865	19368865	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19368865C>A	ENST00000291481.7	-	5	1033	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	324	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A324S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CTGCCATCGGCCAGCCAACCC	0.746000													4	9					4.096e-09	5.45742e-09	0.001168	1	0
SYK	6850	broad.mit.edu	37	9	93629456	93629456	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:93629456C>G	ENST00000375754.4	+	7	1038	c.890C>G	c.(889-891)tCc>tGc	p.S297C	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.S297C	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	297	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.S297C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAATCATACTCCTTCCCAAAG	0.493000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								18	114					0	0	0.007413	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997306	146997306	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:146997306C>G	ENST00000361727.3	+	9	1938	c.1422C>G	c.(1420-1422)atC>atG	p.I474M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	474	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.I474M(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCTCACCATCGATGGAGATG	0.418000										HNSCC(39;0.1)			18	76					0	0	0.006122	0	0
BAIAP2	10458	broad.mit.edu	37	17	79058648	79058648	+	Translation_Start_Site	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:79058648G>A	ENST00000392411.3	+	0	176				BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321300.6_Silent_p.Q78Q|BAIAP2_ENST00000575245.1_Silent_p.Q111Q|BAIAP2_ENST00000428708.2_Silent_p.Q78Q|BAIAP2_ENST00000435091.3_Silent_p.Q78Q|BAIAP2_ENST00000321280.7_Silent_p.Q78Q|BAIAP2_ENST00000575712.1_Silent_p.Q78Q			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2						axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.Q78Q(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTCTTCCAGATGGCTGAAG	0.612000													34	200					0	0	0.005524	0	0
FBXO43	286151	broad.mit.edu	37	8	101154184	101154184	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:101154184C>G	ENST00000428847.2	-	2	614	c.298G>C	c.(298-300)Ggc>Cgc	p.G100R		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	100					meiosis		zinc ion binding	p.G66R(2)|p.G100R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATGTTGGGCCTTTTTCTTTC	0.348000													14	79					0	0	0.002450	0	0
SPTA1	6708	broad.mit.edu	37	1	158596722	158596722	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:158596722C>A	ENST00000368148.3	-	41	5920	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1911S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1914					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1914S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCCTTAGCCAGAGAAGGG	0.443000													35	186					3.90053e-15	5.68572e-15	0.002445	1	0
ZIM3	114026	broad.mit.edu	37	19	57646704	57646704	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:57646704G>T	ENST00000269834.1	-	5	1386	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P334H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATTTATAGGGTTTCTCTCC	0.413000													27	119					1.77063e-15	2.5973e-15	0.005443	1	0
RPA4	29935	broad.mit.edu	37	X	96139496	96139496	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:96139496G>A	ENST00000373040.3	+	1	590	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	63					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.V63M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTTTGACCCTGTGTTCAAGGT	0.453000								Other identified genes with known or suspected DNA repair function					15	74					0	0	0.004007	0	0
DROSHA	29102	broad.mit.edu	37	5	31410943	31410943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:31410943C>A	ENST00000511367.2	-	30	3821	c.3577G>T	c.(3577-3579)Gag>Tag	p.E1193*	DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E1156*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E1156*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E1193*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1193	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1193*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGCCCAGCTCCTCCGCTACC	0.517000													26	160					1.85244e-09	2.48238e-09	0.003330	1	0
ADARB2	105	broad.mit.edu	37	10	1230908	1230908	+	Missense_Mutation	SNP	C	C	T	rs146024921		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:1230908C>T	ENST00000381312.1	-	9	2261	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T	ADARB2_ENST00000381305.1_Missense_Mutation_p.A48T|ADARB2_ENST00000381310.3_Missense_Mutation_p.A155T	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	646	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A646T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCAGGTCCGCGCTGCCCACG	0.692000													5	35					0	0	0.000602	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182027	2182027	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:2182027C>T	ENST00000397270.1	-	2	233	c.175G>A	c.(175-177)Gag>Aag	p.E59K	INS_ENST00000397262.1_Missense_Mutation_p.E59K|INS_ENST00000381330.4_Missense_Mutation_p.E59K|INS_ENST00000512523.1_Missense_Mutation_p.E59K|INS_ENST00000250971.3_Missense_Mutation_p.E59K	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		59					glucose metabolic process	extracellular region	hormone activity	p.E59K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		TGCAGGTCCTCTGCCTCCCGG	0.662000													9	58					0	0	0.006214	0	0
ANKRD55	79722	broad.mit.edu	37	5	55396111	55396111	+	Missense_Mutation	SNP	G	G	A	rs143274111	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:55396111G>A	ENST00000341048.4	-	12	1895	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R294W|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R539W	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	581								p.R582W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CGGTTTGTCCGCAGAGGTTCT	0.448000													22	127					0	0	0.003330	0	0
CDH18	1016	broad.mit.edu	37	5	19473721	19473721	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:19473721C>A	ENST00000507958.1	-	15	2977	c.1987G>T	c.(1987-1989)Ggc>Tgc	p.G663C	CDH18_ENST00000274170.4_Missense_Mutation_p.G663C|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.G663C			Q13634	CAD18_HUMAN	cadherin 18, type 2	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G663C(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTCTCCGCCTCCTTCATCA	0.498000													86	221					3.77845e-26	5.99651e-26	0.003610	1	0
GHRHR	2692	broad.mit.edu	37	7	31008552	31008552	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:31008552G>T	ENST00000326139.2	+	2	206		c.e2+1			NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.?(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACCACCCTGGGTATGGGGCCT	0.567000													8	35					1.06961e-07	1.37776e-07	0.003080	1	0
ALDH3A2	224	broad.mit.edu	37	17	19555892	19555892	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:19555892A>T	ENST00000176643.6	+	3	864	c.418A>T	c.(418-420)Agt>Tgt	p.S140C	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.S140C|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.S140C|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.S140C|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.S140C			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	140					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	p.S140C(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TTCTGAACTGAGTGAAAATAC	0.333000													35	116					0	0	0.005524	0	0
ABCA12	26154	broad.mit.edu	37	2	215855551	215855551	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215855551C>T	ENST00000272895.7	-	24	3718	c.3499G>A	c.(3499-3501)Gtc>Atc	p.V1167I	ABCA12_ENST00000389661.4_Missense_Mutation_p.V849I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1167					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.V1167I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGAAGAAGACACTGATAAGA	0.393000													13	63					0	0	0.001368	0	0
ATF6B	1388	broad.mit.edu	37	6	32086644	32086644	+	Splice_Site	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:32086644C>T	ENST00000375201.4	-	11	1189		c.e11-1		ATF6B_ENST00000375203.3_Splice_Site			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCTCGCTGTTCTAAGGTACAA	0.493000													9	72					0	0	0.004482	0	0
GBA3	57733	broad.mit.edu	37	4	22748973	22748973	+	RNA	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:22748973C>A	ENST00000508166.1	+	0	443				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.P114H(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGGTTACTCCCATTGTGACC	0.378000													28	195					3.70037e-05	4.34514e-05	0.009535	1	0
CDH3	1001	broad.mit.edu	37	16	68721600	68721600	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:68721600G>T	ENST00000264012.4	+	12	2300	c.1756G>T	c.(1756-1758)Gac>Tac	p.D586Y	CDH3_ENST00000581171.1_Missense_Mutation_p.D531Y|CDH3_ENST00000429102.2_Missense_Mutation_p.D586Y	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	586	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)|p.D586Y(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCTCACAGATGACTCAGACAT	0.607000													10	50					3.07112e-06	3.70927e-06	0.000978	1	0
NCF4	4689	broad.mit.edu	37	22	37272127	37272127	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:37272127A>T	ENST00000248899.6	+	9	999	c.815A>T	c.(814-816)gAg>gTg	p.E272V	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	272					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	p.E272V(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GACCTGCTGGAGCTCACAAGG	0.557000													5	23					0	0	0.001168	0	0
ZNF79	7633	broad.mit.edu	37	9	130207042	130207042	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:130207042C>T	ENST00000342483.5	+	5	1469	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H331Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H355Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACCGGGGA	0.572000													19	87					0	0	0.006122	0	0
F13B	2165	broad.mit.edu	37	1	197021794	197021794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021794delC	ENST00000367412.1	-	9	1568	c.1525delG	c.(1525-1527)aafs	p.E509fs		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	509	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATTTCACTTCTCCTCTGTTG	0.328													15	70	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216496818	216496818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216496818delC	ENST00000366943.2	-	8	1934	c.1548delG	c.(1546-1548)ggfs	p.G516fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.G516fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.G516fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAATACCTCCCACTAATGG	0.368										HNSCC(13;0.011)			11	85	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41961235	41961235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:41961235delC	ENST00000301831.4	-	6	1079	c.617delG	c.(616-618)gcfs	p.G206fs	ULK4_ENST00000420927.1_Frame_Shift_Del_p.G206fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	206	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGCAGACAGCCCAAAGACCA	0.408													36	150	---	---	---	---					
RANBP3L	202151	broad.mit.edu	37	5	36257147	36257147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:36257147delG	ENST00000296604.3	-	10	1284	c.799delC	c.(799-801)tafs	p.L267fs	RANBP3L_ENST00000515759.1_Frame_Shift_Del_p.L267fs|RANBP3L_ENST00000502994.1_Frame_Shift_Del_p.L292fs	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	267					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GATTCAATTAGGGAAGTATTT	0.373													37	69	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													3	5	---	---	---	---					
GFRAL	389400	broad.mit.edu	37	6	55196612	55196612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:55196612delC	ENST00000340465.2	+	2	208	c.122delC	c.(121-123)gtfs	p.A41fs		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	41						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTAAACATGCTTGGAGAGTA	0.338													8	37	---	---	---	---					
GNAI1	2770	broad.mit.edu	37	7	79846625	79846626	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:79846625_79846626delAC	ENST00000351004.3	+	8	1254_1255	c.881_882delAC	c.(880-882)afs	p.N294fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.N242fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	294					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGGATCAAACACATATGAAG	0.337													11	61	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269890	88269891	+	RNA	INS	-	-	T	rs113056340		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:88269890_88269891insT	ENST00000390184.1	+	0	56_57																											AGAAGGAGCACTTTTTTTTTTT	0.317													2	4	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103207077	103207078	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103207077_103207078insT	ENST00000424685.2	-	32	4876_4877	c.4717_4718insA	c.(4717-4719)ggcfs	p.G1573fs	RELN_ENST00000343529.5_Frame_Shift_Ins_p.G1573fs|RELN_ENST00000428762.1_Frame_Shift_Ins_p.G1573fs			P78509	RELN_HUMAN	reelin	1573					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAAATGCCGTTGCAGGTGTC	0.495													30	121	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77767611	77767611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767611delG	ENST00000521891.2	+	10	8902	c.8454delG	c.(8452-8454)gafs	p.E2818fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E2773fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E2773fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E2792fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2802D(1)		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)			CCGGAGACGAGGGAAACACTG	0.483										HNSCC(33;0.089)			9	43	---	---	---	---					
OR5F1	338674	broad.mit.edu	37	11	55761175	55761176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55761175_55761176insA	ENST00000278409.1	-	1	925_926	c.926_927insT	c.(925-927)aacfs	p.N309fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R309M(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGAAGAGGTCCTTTTCCTGCT	0.351													8	45	---	---	---	---					
OR5B17	219965	broad.mit.edu	37	11	58126125	58126126	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:58126125_58126126delCA	ENST00000357377.3	-	1	416_417	c.417_418delTG	c.(415-420)tgctfs	p.CA139fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A140S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCAGACAAGCACACACACGTG	0.450													22	85	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815544	2815544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815544delC	ENST00000301740.8	+	11	5564	c.5015delC	c.(5014-5016)tcfs	p.S1672fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1672	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCAGAGGTTCCAGGTCATCA	0.567													15	45	---	---	---	---					
OR7C1	26664	broad.mit.edu	37	19	14910638	14910638	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:14910638delA	ENST00000248073.2	-	1	385	c.311delT	c.(310-312)tcfs	p.F104fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	104					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAATGAAGTGAAAAAAAAAAT	0.443													7	64	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													7	36	---	---	---	---					
