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
ACTN2	88	broad.mit.edu	37	1	236925911	236925911	+	Missense_Mutation	SNP	G	G	T	rs142646143		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:236925911G>T	ENST00000366578.4	+	21	2843	c.2677G>T	c.(2677-2679)Gat>Tat	p.D893Y	ACTN2_ENST00000546208.1_Missense_Mutation_p.D387Y|ACTN2_ENST00000542672.1_Missense_Mutation_p.D893Y	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	893					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.D893Y(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGGGAGAGCGATCTGTGATG	0.507000													25	28					4.22769e-11	4.86236e-11	0.006320	1	0
C10orf90	118611	broad.mit.edu	37	10	128118366	128118366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:128118366G>A	ENST00000284694.7	-	7	2071	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*|C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	651								p.R651*(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTTAGATCGCATATGCATC	0.438000													16	80					0	0	0.007413	0	0
GREM2	64388	broad.mit.edu	37	1	240656560	240656560	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:240656560C>G	ENST00000318160.4	-	2	482	c.216G>C	c.(214-216)tgG>tgC	p.W72C		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	72					BMP signaling pathway	extracellular space	cytokine activity	p.W72C(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GCGTCTTGCACCAGTCACTCT	0.632000													14	81					0	0	0.010504	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446491	25446491	+	RNA	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:25446491T>C	ENST00000424208.1	+	0	1988				SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1																						GAGAACCTTATATTGTCCTGA	0.488000													133	483					0	0	0.014410	0	0
ABCB6	10058	broad.mit.edu	37	2	220077768	220077768	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:220077768C>G	ENST00000265316.3	-	13	2141	c.1825G>C	c.(1825-1827)Gtg>Ctg	p.V609L	ABCB6_ENST00000439002.2_Missense_Mutation_p.V563L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	609	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.V609L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAAAGACACGTCCTGCAGA	0.612000													22	25					0	0	0.014323	0	0
WDR60	55112	broad.mit.edu	37	7	158695181	158695181	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:158695181G>A	ENST00000407559.3	+	10	1410	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	418								p.E418K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GGAAATACAAGAAATTCAAAG	0.373000													42	89					0	0	0.006999	0	0
ITGAX	3687	broad.mit.edu	37	16	31391695	31391695	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:31391695C>A	ENST00000268296.4	+	27	3290	c.3169C>A	c.(3169-3171)Cgc>Agc	p.R1057S	ITGAX_ENST00000562522.1_Missense_Mutation_p.R1057S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1057					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R1057S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGCTGGGTCCGCCAGGTGTG	0.647000													29	34					7.26314e-15	8.89173e-15	0.007291	1	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494273	142494273	+	RNA	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:142494273G>T	ENST00000390413.1	+	0	30																											TTTTGGAGAAGGCTCTAGGCT	0.652000													35	80					3.03874e-20	3.99834e-20	0.003271	1	0
KLHL30	377007	broad.mit.edu	37	2	239056488	239056488	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:239056488C>T	ENST00000409223.1	+	6	1271	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	KLHL30_ENST00000305959.4_Silent_p.D370D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	388								p.D388D(3)		lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACCCTGGACGTGGTGGAGG	0.667000													5	39					0	0	0.001168	0	0
PVRL3	25945	broad.mit.edu	37	3	110852594	110852594	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:110852594G>A	ENST00000485303.1	+	6	1457	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	394					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.L394L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGTCAACTTTGGCAACAATTA	0.448000													8	26					0	0	0.006214	0	0
HAS2	3037	broad.mit.edu	37	8	122641407	122641407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:122641407G>C	ENST00000303924.4	-	2	711	c.174C>G	c.(172-174)atC>atG	p.I58M		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	58						integral to plasma membrane	hyaluronan synthase activity	p.I58M(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GGCTTTGGATGATGAGGTGTG	0.413000													72	161					0	0	0.014410	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456195	5456195	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:5456195G>T	ENST00000222033.4	+	1	770	c.693G>T	c.(691-693)tcG>tcT	p.S231S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	231						integral to membrane	zinc ion binding	p.S231S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCAACAAGTCGGCCCACGCGC	0.687000													70	62					2.93416e-43	4.53982e-43	0.014410	1	0
CHRD	8646	broad.mit.edu	37	3	184104849	184104849	+	Silent	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:184104849T>C	ENST00000204604.1	+	18	2547	c.2301T>C	c.(2299-2301)gaT>gaC	p.D767D	CHRD_ENST00000450923.1_Silent_p.D767D|CHRD_ENST00000545352.1_Silent_p.D309D|CHRD_ENST00000348986.3_Silent_p.D727D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	767					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.D480D(1)|p.D767D(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAAGATGTCAGAGACT	0.602000													27	135					0	0	0.012213	0	0
ARSK	153642	broad.mit.edu	37	5	94903741	94903741	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:94903741A>T	ENST00000380009.4	+	3	609	c.404A>T	c.(403-405)cAt>cTt	p.H135L		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	135						extracellular region	arylsulfatase activity|metal ion binding	p.H135L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ACTTCAGGACATCACTCCATT	0.358000													3	21					0	0	0.004672	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546268	33546268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:33546268C>A	ENST00000504830.1	-	22	4677	c.4342G>T	c.(4342-4344)Gtg>Ttg	p.V1448L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1363L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1448	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V1448L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACAGAACACTCCTCTCTCC	0.502000										HNSCC(64;0.19)			22	23					1.36565e-18	1.75794e-18	0.002780	1	0
USH1G	124590	broad.mit.edu	37	17	72915586	72915586	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:72915586C>A	ENST00000319642.1	-	2	1527	c.1345G>T	c.(1345-1347)Gcg>Tcg	p.A449S		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	449					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.A449S(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCTCCATCGCCTGCCGCCGC	0.692000													49	56					4.83814e-26	6.81933e-26	0.014410	1	0
OR5M10	390167	broad.mit.edu	37	11	56344619	56344619	+	Silent	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:56344619A>T	ENST00000526812.2	-	1	644	c.579T>A	c.(577-579)cgT>cgA	p.R193R		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R193R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTTTTTGACACGGGTGTCAG	0.443000													29	20					0	0	0.013726	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873723	91873723	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:91873723C>A	ENST00000373094.1	+	7	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_ENST00000373097.1_Silent_p.V1266V|PCDH11X_ENST00000298274.8_Silent_p.V1239V|PCDH11X_ENST00000373088.1_Silent_p.V1239V|PCDH11X_ENST00000406881.1_Silent_p.V1268V|PCDH11X_ENST00000361655.2_Silent_p.V1258V|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1276					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V1276V(1)		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						AATCATCAGTCAGTTTGCAGC	0.517000													140	169					1.43109e-48	2.25836e-48	0.014410	1	0
CASKIN2	57513	broad.mit.edu	37	17	73498744	73498744	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:73498744G>A	ENST00000321617.3	-	18	2997	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P722L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	804	Pro-rich.					cytoplasm		p.P804L(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTGGGGCCAGGGCGGCTTAG	0.711000													8	24					0	0	0.008291	0	0
OBSCN	84033	broad.mit.edu	37	1	228462074	228462074	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:228462074G>A	ENST00000570156.2	+	23	6811	c.6737G>A	c.(6736-6738)cGc>cAc	p.R2246H	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1871H|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R718H|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1871H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1229	Ig-like 22.				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.R1871H(2)|p.R2055H(1)|p.R2154H(1)		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)				TTGGGGCTGCGCGCAGAGGAC	0.647000													21	150					0	0	0.014323	0	0
CARD14	79092	broad.mit.edu	37	17	78162253	78162253	+	Silent	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:78162253G>C	ENST00000573882.1	+	7	1289	c.753G>C	c.(751-753)ctG>ctC	p.L251L	CARD14_ENST00000570421.1_Silent_p.L251L|CARD14_ENST00000392434.2_Silent_p.L14L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.L251L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	251					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.L251L(1)|p.L14L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGTCCCTGAGGACAGCCA	0.592000													27	195					0	0	0.005443	0	0
PES1	23481	broad.mit.edu	37	22	30977532	30977532	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:30977532G>A	ENST00000402281.1	-	9	1304	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	PES1_ENST00000405677.1_Missense_Mutation_p.L105F|PES1_ENST00000335214.6_Missense_Mutation_p.L244F|PES1_ENST00000354694.6_Missense_Mutation_p.L244F|PES1_ENST00000402284.3_Missense_Mutation_p.L227F			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	244	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.L244F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGATAGTGGAGGTTGAGCAAC	0.622000													55	43					0	0	0.014410	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	RNA	SNP	C	C	T	rs4302302		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617000													5	47					0	0	0.006122	0	0
PIGG	54872	broad.mit.edu	37	4	527726	527726	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:527726G>T	ENST00000453061.2	+	12	2797	c.2691G>T	c.(2689-2691)ctG>ctT	p.L897L	PIGG_ENST00000504346.1_Silent_p.L808L|PIGG_ENST00000310340.5_Silent_p.L889L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.L764L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	897					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.L889L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGCCTGTGCTGTGGGCCAGCC	0.617000													41	69					4.18559e-23	5.77952e-23	0.014410	1	0
KMT2E	55904	broad.mit.edu	37	7	104702637	104702637	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:104702637T>C	ENST00000334877.4	+	4	632	c.98T>C	c.(97-99)gTg>gCg	p.V33A	KMT2E_ENST00000311117.3_Missense_Mutation_p.V33A|KMT2E_ENST00000476671.1_Missense_Mutation_p.V33A|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.V33A					lysine (K)-specific methyltransferase 2E									p.V33A(1)									GCTAGCCCTGTGGTAGTTGAG	0.383000													48	73					0	0	0.014410	0	0
VCAM1	7412	broad.mit.edu	37	1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:101198093C>A	ENST00000294728.2	+	7	1746	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483000													12	20					4.3838e-07	4.75412e-07	0.001855	1	0
RP1L1	94137	broad.mit.edu	37	8	10468624	10468624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:10468624C>A	ENST00000382483.3	-	4	3207	c.2984G>T	c.(2983-2985)gGg>gTg	p.G995V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	995					intracellular signal transduction			p.G995V(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)		ATGGTCATCCCCAGGGTCCAC	0.647000													61	197					1.65906e-26	2.3524e-26	0.014410	1	0
FCRL3	115352	broad.mit.edu	37	1	157660199	157660199	+	Missense_Mutation	SNP	G	G	C	rs141302640		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:157660199G>C	ENST00000368184.3	-	9	1827	c.1536C>G	c.(1534-1536)caC>caG	p.H512Q	FCRL3_ENST00000368186.5_Missense_Mutation_p.H512Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	512	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.H512Q(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTCATCCTCGTGATAAAACC	0.582000													66	90					0	0	0.014410	0	0
KIF1B	23095	broad.mit.edu	37	1	10364334	10364334	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:10364334A>T	ENST00000377093.4	+	21	3244	c.3091A>T	c.(3091-3093)Atc>Ttc	p.I1031F	KIF1B_ENST00000377083.1_Missense_Mutation_p.I1031F|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	624					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.I1031F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCAAGATCACATCCAAGTTAG	0.453000													60	189					0	0	0.014410	0	0
KLK14	43847	broad.mit.edu	37	19	51582093	51582093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:51582093C>A	ENST00000391802.1	-	6	848	c.630G>T	c.(628-630)caG>caT	p.Q210H	KLK14_ENST00000156499.2_Missense_Mutation_p.Q210H	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	210	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	p.Q194H(2)|p.Q210H(2)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTTCCCGCCCTGGGGAACTC	0.542000													111	552					3.12765e-76	5.08779e-76	0.014410	1	0
WSCD2	9671	broad.mit.edu	37	12	108604018	108604018	+	Silent	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:108604018G>C	ENST00000332082.4	+	5	1436	c.618G>C	c.(616-618)gtG>gtC	p.V206V	WSCD2_ENST00000547525.1_Silent_p.V206V|WSCD2_ENST00000261400.3_Silent_p.V206V|WSCD2_ENST00000549903.1_Silent_p.V206V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	206	WSC 1.					integral to membrane		p.V206V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAGGCAGCGTGTGCGGCGGCG	0.677000													6	19					0	0	0.004482	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	57					0	0	0.001168	0	0
PRLHR	2834	broad.mit.edu	37	10	120354273	120354273	+	Missense_Mutation	SNP	C	C	G	rs144077709		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:120354273C>G	ENST00000239032.2	-	2	622	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	PRLHR_ENST00000369169.1_Missense_Mutation_p.V162L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	162					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.V162L(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		TGCACCAGCACGACGTAGCGG	0.697000													8	41					0	0	0.008291	0	0
BRINP2	57795	broad.mit.edu	37	1	177250489	177250489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:177250489G>T	ENST00000361539.4	+	8	2489	c.2177G>T	c.(2176-2178)cGg>cTg	p.R726L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		726						extracellular region		p.R726L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTCAGGGACCGGGTGAACCAG	0.542000													37	216					3.21399e-22	4.39956e-22	0.004878	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204403679	204403679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:204403679C>A	ENST00000367187.3	-	25	4130	c.3574G>T	c.(3574-3576)Ggc>Tgc	p.G1192C	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G1164C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1192	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.G1192C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCACAGATGCCCAAGACGTAC	0.542000													5	61					0.00307968	0.003208	0.003080	1	0
OLFM4	10562	broad.mit.edu	37	13	53624885	53624885	+	Silent	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:53624885T>A	ENST00000219022.2	+	5	1590	c.1512T>A	c.(1510-1512)tcT>tcA	p.S504S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	504	Olfactomedin-like.				cell adhesion	extracellular space		p.S504S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATGATCTTTCTGTCTTGCAGA	0.378000													44	34					0	0	0.014410	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363772	98363772	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:98363772G>A	ENST00000339364.5	-	15	2324	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	PIK3AP1_ENST00000371109.3_Silent_p.L334L|PIK3AP1_ENST00000371110.2_Silent_p.L557L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	735						cytoplasm|plasma membrane		p.L735L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCACACTGAGGAGGCTCCGGG	0.512000													4	23					0	0	0.001168	0	0
LIPE	3991	broad.mit.edu	37	19	42930740	42930740	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:42930740T>C	ENST00000244289.4	-	1	838	c.562A>G	c.(562-564)Aca>Gca	p.T188A	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	188					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.T188A(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACTGGCGTTGTTTGCTTGTCT	0.517000													247	174					0	0	0.014410	0	0
COL16A1	1307	broad.mit.edu	37	1	32163665	32163665	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:32163665G>T	ENST00000373672.3	-	6	1015	c.499C>A	c.(499-501)Cgt>Agt	p.R167S	COL16A1_ENST00000271069.6_Missense_Mutation_p.R167S|COL16A1_ENST00000373668.3_Missense_Mutation_p.R167S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	167	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R167S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGTGCCAACGCAAGTCGAAG	0.637000													29	66					1.88708e-17	2.3967e-17	0.008361	1	0
KIAA0825	285600	broad.mit.edu	37	5	93856111	93856111	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:93856111A>G	ENST00000513200.3	-	4	884	c.812T>C	c.(811-813)aTg>aCg	p.M271T	KIAA0825_ENST00000329378.7_Missense_Mutation_p.M271T|KIAA0825_ENST00000312498.7_Missense_Mutation_p.M271T|KIAA0825_ENST00000427991.2_Missense_Mutation_p.M271T	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	271								p.M271T(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAATTTCACCATTGAAGATGG	0.313000													8	6					0	0	0.003080	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560615	44560615	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:44560615C>A	ENST00000289547.4	-	13	3111	c.3056G>T	c.(3055-3057)cGg>cTg	p.R1019L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1019L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R973L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1019					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.R1019L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GATGTTGGGCCGGTCGTTCAG	0.542000													237	443					1.54419e-88	2.54685e-88	0.014410	1	0
EFTUD1	79631	broad.mit.edu	37	15	82512058	82512058	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:82512058C>A	ENST00000268206.7	-	14	1714	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.A465S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	516					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.A516S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTCTTCGAGCCACACCACTG	0.398000													13	30					1.3612e-06	1.45953e-06	0.003163	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905579	144905579	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:144905579C>A	ENST00000370490.1	+	1	5891	c.1636C>A	c.(1636-1638)Cat>Aat	p.H546N	SLITRK2_ENST00000428560.2_Missense_Mutation_p.H546N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.H546N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.H546N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.H546N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	546	LRRCT 2.					integral to membrane		p.H546N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACAGAACATGCCAATTC	0.512000													45	60					1.6237e-14	1.97252e-14	0.013114	1	0
KCNK10	54207	broad.mit.edu	37	14	88658611	88658611	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:88658611C>A	ENST00000340700.5	-	5	1261	c.810G>T	c.(808-810)gtG>gtT	p.V270V	KCNK10_ENST00000319231.5_Silent_p.V275V|KCNK10_ENST00000312350.5_Silent_p.V275V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	270					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V275V(2)|p.V270V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTGACCACCACAAAGTAAA	0.542000													68	84					5.96624e-29	8.64014e-29	0.014410	1	0
VEGFC	7424	broad.mit.edu	37	4	177609075	177609075	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:177609075C>A	ENST00000280193.2	-	5	1126	c.711G>T	c.(709-711)caG>caT	p.Q237H	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	237					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.Q237H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGTTCGCTGCCTGACACCTTT	0.448000													26	53					7.92952e-12	9.2091e-12	0.003954	1	0
WDR53	348793	broad.mit.edu	37	3	196281560	196281560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:196281560G>T	ENST00000332629.5	-	4	1166	c.599C>A	c.(598-600)gCc>gAc	p.A200D	WDR53_ENST00000429115.1_Missense_Mutation_p.A39D|WDR53_ENST00000433160.1_Missense_Mutation_p.A41D	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	200								p.A200D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GATAGAATGGGCTAGGGCAGG	0.458000													132	261					2.08805e-72	3.37355e-72	0.014410	1	0
PCDHA2	56146	broad.mit.edu	37	5	140175812	140175812	+	Silent	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:140175812T>C	ENST00000526136.1	+	1	1263	c.1263T>C	c.(1261-1263)taT>taC	p.Y421Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.Y421Y|PCDHA2_ENST00000378132.1_Silent_p.Y421Y	NM_018905.2	NP_061728.1												p.Y421Y(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGCCTATGAGCTGGTGG	0.647000													47	223					0	0	0.014410	0	0
ABCA8	10351	broad.mit.edu	37	17	66918397	66918397	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:66918397A>G	ENST00000269080.2	-	11	1624	c.1487T>C	c.(1486-1488)aTa>aCa	p.I496T	ABCA8_ENST00000586539.1_Missense_Mutation_p.I496T|ABCA8_ENST00000430352.2_Missense_Mutation_p.I496T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	496	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I496T(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGGCTTCTATTTTATCAGG	0.209000													5	17					0	0	0.000602	0	0
OR6F1	343169	broad.mit.edu	37	1	247875301	247875301	+	Missense_Mutation	SNP	C	C	A	rs112992531		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:247875301C>A	ENST00000302084.2	-	1	804	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			ACTGTGGACCCATACCAAATG	0.527000													55	149					1.10885e-35	1.66678e-35	0.014410	1	0
SZT2	23334	broad.mit.edu	37	1	43908192	43908192	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:43908192A>T	ENST00000562955.1	+	57	7883	c.7883A>T	c.(7882-7884)cAg>cTg	p.Q2628L	SZT2_ENST00000372442.1_Missense_Mutation_p.Q1786L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2685						peroxisome		p.Q1786L(2)|p.Q2628L(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGCAGTGGCAGAATGCACGA	0.597000													23	88					0	0	0.004656	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563253	32563253	+	Silent	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:32563253A>G	ENST00000345122.3	+	2	3693	c.3378A>G	c.(3376-3378)gtA>gtG	p.V1126V	ARHGAP5_ENST00000432921.1_Silent_p.V1126V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V1126V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.V1126V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1126					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.V1126V(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTCATTTGTAAATAACACCC	0.338000													9	40					0	0	0.008291	0	0
ANGPT2	285	broad.mit.edu	37	8	6389879	6389879	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:6389879G>A	ENST00000325203.5	-	2	892	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ANGPT2_ENST00000523120.1_Missense_Mutation_p.R140W|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Intron|ANGPT2_ENST00000415216.1_Missense_Mutation_p.R140W			O15123	ANGP2_HUMAN	angiopoietin 2	140					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	p.R140W(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTAACTTCCGCGTTTGCTCC	0.483000													33	181					0	0	0.004878	0	0
CTH	1491	broad.mit.edu	37	1	70899568	70899568	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:70899568G>T	ENST00000411986.2	+	8	1037	c.839G>T	c.(838-840)gGg>gTg	p.G280V	CTH_ENST00000346806.2_Missense_Mutation_p.G268V|CTH_ENST00000370938.3_Missense_Mutation_p.G312V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	312					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	p.G312V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGTTGTACAGGGATGGTCACC	0.388000													11	51					4.3838e-07	4.75412e-07	0.001855	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751397	126751397	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:126751397T>A	ENST00000393409.2	+	29	5399	c.5399T>A	c.(5398-5400)cTg>cAg	p.L1800Q	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1777Q	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1800					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.L1777Q(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCAACAAGCTGCTCTACGCC	0.642000													79	111					0	0	0.014410	0	0
MC5R	4161	broad.mit.edu	37	18	13825793	13825793	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:13825793T>C	ENST00000324750.3	+	1	251	c.29T>C	c.(28-30)tTg>tCg	p.L10S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	10					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.L10S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTGCATTTCTTGGATCTCAAC	0.413000													94	110					0	0	0.014410	0	0
OR10H2	26538	broad.mit.edu	37	19	15839102	15839102	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:15839102C>T	ENST00000305899.3	+	1	269	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCATGCTGGCCGACCTGCTGT	0.627000													17	95					0	0	0.010818	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782968	80782968	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:80782968G>T	ENST00000466387.1	+	16	2415	c.1691G>T	c.(1690-1692)gGg>gTg	p.G564V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.G564V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G564V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.G243V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G564V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.G564V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G598V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	564					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G564V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TATGAAGCTGGGGTTTATACT	0.488000													123	75					1.04606e-72	1.69583e-72	0.014410	1	0
NCAN	1463	broad.mit.edu	37	19	19338712	19338712	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:19338712C>T	ENST00000252575.5	+	8	2326	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	NCAN_ENST00000538881.1_Silent_p.F212F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	761					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F775F(1)|p.F761F(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGGGGTCTTCGACACAGCAG	0.582000													95	108					0	0	0.014410	0	0
EGLN3	112399	broad.mit.edu	37	14	34419701	34419701	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:34419701C>A	ENST00000547327.2	-	1	586	c.258G>T	c.(256-258)gaG>gaT	p.E86D	EGLN3_ENST00000250457.3_Missense_Mutation_p.E86D|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	86					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	p.E86_G87>DC(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CCTCGCAGCCCTCCTCGTTGC	0.692000													23	66					7.07758e-08	7.83648e-08	0.004656	1	0
ZNF195	7748	broad.mit.edu	37	11	3380968	3380968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:3380968C>A	ENST00000354599.6	-	4	1158	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	ZNF195_ENST00000399602.4_Missense_Mutation_p.D424Y|ZNF195_ENST00000526601.1_Missense_Mutation_p.D405Y|ZNF195_ENST00000343338.7_Missense_Mutation_p.D356Y|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.D401Y|ZNF195_ENST00000429541.2_Missense_Mutation_p.D356Y	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	424				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D352Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTAGTAAGGTCTGAGAACCAC	0.423000													34	127					7.11191e-15	8.7517e-15	0.013726	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927944	13927944	+	RNA	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:13927944G>A	ENST00000602743.1	-	0	224																											GACGCCTGTCGCCCGTTGTAA	0.602000													7	39					0	0	0.006214	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752873	55752873	+	RNA	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:55752873G>T	ENST00000455909.1	-	0	690					NR_027340.1|NR_027342.1				FK506 binding protein 9-like									p.L82M(1)		endometrium(1)|kidney(1)|lung(3)	5						ACCTCTTCCAGGAGGACTTCT	0.547000													12	22					9.16793e-09	1.02225e-08	0.004990	1	0
SETD1A	9739	broad.mit.edu	37	16	30974843	30974843	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:30974843A>T	ENST00000262519.8	+	5	1293	c.607A>T	c.(607-609)Aag>Tag	p.K203*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.K203*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTGAGTGAGAAGTTCCAAGG	0.577000													51	67					0	0	0.014410	0	0
ELK3	2004	broad.mit.edu	37	12	96653545	96653545	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:96653545C>A	ENST00000228741.3	+	4	1365	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I	ELK3_ENST00000549529.1_3'UTR|ELK3_ENST00000552142.1_Missense_Mutation_p.L82I	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	347					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L347I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAGTCCACTGCTCTCCAGCAT	0.517000													5	168					1.23904e-05	1.31961e-05	0.000602	1	0
USH2A	7399	broad.mit.edu	37	1	216219877	216219877	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:216219877G>C	ENST00000366943.2	-	32	6607	c.6221C>G	c.(6220-6222)tCc>tGc	p.S2074C	USH2A_ENST00000307340.3_Missense_Mutation_p.S2074C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2074	Fibronectin type-III 7.				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.S2074C(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)		TGGGTTCCAGGAGAGCAGCAA	0.428000										HNSCC(13;0.011)			5	38					0	0	0.001168	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956742	88956742	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:88956742C>G	ENST00000333190.4	+	3	943	c.334C>G	c.(334-336)Ctt>Gtt	p.L112V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	112						intracellular	zinc ion binding	p.L112V(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAAAGCACTTAAACGACT	0.383000										HNSCC(36;0.09)			7	31					0	0	0.004482	0	0
ZNF106	64397	broad.mit.edu	37	15	42729559	42729559	+	Silent	SNP	T	T	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:42729559T>G	ENST00000263805.4	-	10	4874	c.4548A>C	c.(4546-4548)ccA>ccC	p.P1516P	ZNF106_ENST00000565611.1_Silent_p.P701P|ZNF106_ENST00000565380.1_Silent_p.P744P	NM_022473.1	NP_071918.1			zinc finger protein 106									p.P1516P(1)									CATCATCTCCTGGCTCTGAAG	0.393000													50	98					0	0	0.014410	0	0
TTI1	9675	broad.mit.edu	37	20	36611948	36611948	+	Silent	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:36611948G>C	ENST00000373448.2	-	9	3418	c.3180C>G	c.(3178-3180)ccC>ccG	p.P1060P	TTI1_ENST00000449821.1_Silent_p.P1060P|TTI1_ENST00000373447.3_Silent_p.P1060P	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1060							binding	p.P1060P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGTGGAGGCTGGGGTGGGGAG	0.632000													46	62					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73849959	73849959	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:73849959A>C	ENST00000523207.1	+	3	2957	c.2369A>C	c.(2368-2370)aAg>aCg	p.K790T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	790					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.K790T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGTTTCCCAAGCAGAAACTG	0.542000													27	114					0	0	0.005443	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	115					0	0	0.001168	0	0
SRGAP1	57522	broad.mit.edu	37	12	64485100	64485100	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:64485100G>T	ENST00000355086.3	+	12	2005	c.1481G>T	c.(1480-1482)aGg>aTg	p.R494M	SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	494					axon guidance	cytosol		p.R494M(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGAAGTCCAGGCCCCGCTCA	0.458000													7	29					3.09899e-07	3.37619e-07	0.004482	1	0
NUTM1	256646	broad.mit.edu	37	15	34648156	34648156	+	Silent	SNP	C	C	A	rs141659118	byFrequency	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:34648156C>A	ENST00000537011.1	+	8	2329	c.1947C>A	c.(1945-1947)ccC>ccA	p.P649P	NUTM1_ENST00000333756.4_Silent_p.P621P|NUTM1_ENST00000438749.3_Silent_p.P639P					NUT midline carcinoma, family member 1									p.P621P(1)									AGGCTCTGCCCCTTTGTTGGC	0.562000													23	44					1.61788e-16	2.02768e-16	0.012213	1	0
LAMA5	3911	broad.mit.edu	37	20	60902396	60902396	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:60902396G>A	ENST00000252999.3	-	38	5071	c.5005C>T	c.(5005-5007)Cca>Tca	p.P1669S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1669	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.P1669S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCGTCCCTGGCTGCCGCTCG	0.677000													3	40					0	0	0.004672	0	0
SET	6418	broad.mit.edu	37	9	131454184	131454184	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:131454184A>G	ENST00000322030.8	+	3	536	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	SET_ENST00000409104.3_Missense_Mutation_p.Y51C|SET_ENST00000372688.4_Missense_Mutation_p.Y49C|SET_ENST00000372692.4_Missense_Mutation_p.Y73C|SET_ENST00000477806.1_3'UTR	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	73					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	p.Y60C(1)|p.Y73C(1)		endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GAACAGAAATATAACAAACTC	0.338000			T	NUP214	AML								24	25					0	0	0.005443	0	0
TAF5L	27097	broad.mit.edu	37	1	229738448	229738448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:229738448G>A	ENST00000366675.3	-	4	554	c.466C>T	c.(466-468)Cga>Tga	p.R156*	TAF5L_ENST00000366676.1_Nonsense_Mutation_p.R156*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R156*	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	156					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R156*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGGAATGCTCGAAGCTTGAAG	0.463000													75	168					0	0	0.014410	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437235	142437235	+	Silent	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:142437235T>A	ENST00000378004.3	+	17	1816	c.1461T>A	c.(1459-1461)tcT>tcA	p.S487S	ARHGAP26_ENST00000274498.4_Silent_p.S487S	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	487	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S487S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGTCTCTGAAATCCACA	0.438000													36	62					0	0	0.008740	0	0
BRINP3	339479	broad.mit.edu	37	1	190067754	190067754	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:190067754C>A	ENST00000367462.3	-	8	1926	c.1695G>T	c.(1693-1695)ttG>ttT	p.L565F	FAM5C_ENST00000534846.1_Missense_Mutation_p.L463F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		565						extracellular region		p.L565_E566>F*(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ACACTGGCTCCAAGGTGCTGT	0.463000													37	143					9.8876e-21	1.31558e-20	0.004878	1	0
EXT1	2131	broad.mit.edu	37	8	119123195	119123195	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:119123195A>G	ENST00000378204.2	-	1	897	c.91T>C	c.(91-93)Tcg>Ccg	p.S31P		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	31					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.S31P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGCTCCTCGATGCCCTAAAC	0.572000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				9	52					0	0	0.010729	0	0
TRERF1	55809	broad.mit.edu	37	6	42211039	42211039	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:42211039G>A	ENST00000541110.1	-	15	3434	c.2866C>T	c.(2866-2868)Cgg>Tgg	p.R956W	TRERF1_ENST00000340840.2_Missense_Mutation_p.R853W|TRERF1_ENST00000372917.4_Missense_Mutation_p.R853W|TRERF1_ENST00000354325.2_Missense_Mutation_p.R853W|TRERF1_ENST00000372922.4_Missense_Mutation_p.R936W			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	936	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.R936W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCCCAGCCGCATGATCTTT	0.557000													45	220					0	0	0.014410	0	0
ACTL9	284382	broad.mit.edu	37	19	8808680	8808680	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:8808680G>T	ENST00000324436.3	-	1	492	c.372C>A	c.(370-372)gcC>gcA	p.A124A		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	124						cytoplasm|cytoskeleton		p.A124A(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGAGCTCGGCGGCATCCCAGT	0.697000													35	36					9.39024e-22	1.27439e-21	0.009718	1	0
TXNDC15	79770	broad.mit.edu	37	5	134223691	134223691	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:134223691G>A	ENST00000358387.4	+	2	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G114E	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	137					cell redox homeostasis	integral to membrane		p.G137E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGGCGCTGGAGCACACTTC	0.557000													23	71					0	0	0.002780	0	0
CREBBP	1387	broad.mit.edu	37	16	3900576	3900576	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:3900576C>G	ENST00000262367.5	-	2	1329	c.520G>C	c.(520-522)Ggt>Cgt	p.G174R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G174R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	174					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G174R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGCAGATACCAGGTCCAGTC	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						37	69					0	0	0.014410	0	0
BRINP3	339479	broad.mit.edu	37	1	190067753	190067753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:190067753C>A	ENST00000367462.3	-	8	1927	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.E464*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		566						extracellular region		p.L565_E566>F*(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACACTGGCTCCAAGGTGCTG	0.463000													36	142					4.62619e-21	6.20746e-21	0.004289	1	0
NLRP5	126206	broad.mit.edu	37	19	56539809	56539809	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:56539809G>T	ENST00000390649.3	+	7	2210	c.2210G>T	c.(2209-2211)cGg>cTg	p.R737L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737						mitochondrion|nucleolus	ATP binding	p.R737L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGAAAATTCGGGTGGATGTC	0.502000													98	306					1.63549e-45	2.55545e-45	0.014410	1	0
CHRNB4	1143	broad.mit.edu	37	15	78921903	78921903	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:78921903C>A	ENST00000261751.3	-	5	855	c.744G>T	c.(742-744)ttG>ttT	p.L248F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	248					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.L248F(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGATGGCCAGCAAGGTGGTGA	0.547000													43	219					4.49093e-37	6.81531e-37	0.014410	1	0
NOTCH4	4855	broad.mit.edu	37	6	32178643	32178643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:32178643G>T	ENST00000375023.3	-	18	2889	c.2751C>A	c.(2749-2751)caC>caA	p.H917Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	917	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.H917Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGGGGGGCAGTGGCAGAAAT	0.597000													11	76					3.35478e-16	4.17151e-16	0.003163	1	0
AGRN	375790	broad.mit.edu	37	1	957682	957682	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:957682C>T	ENST00000379370.2	+	2	353	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	101	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.L101L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGACCCCCTCATCTGTGACA	0.602000													84	273					0	0	0.014410	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662619	72662619	+	RNA	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:72662619G>T	ENST00000425256.1	-	0	997					NR_002164.1																						CCATTACTGAGCTCAAGCCCT	0.463000													115	240					2.03784e-77	3.33784e-77	0.014410	1	0
SMARCA5	8467	broad.mit.edu	37	4	144469215	144469215	+	Silent	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:144469215T>C	ENST00000283131.3	+	22	3369	c.2907T>C	c.(2905-2907)gtT>gtC	p.V969V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	969	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.V969V(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGAAAATGTTTATGATGAAT	0.363000													3	16					0	0	0.004672	0	0
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		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)		TGAGGAAGTGTCGGTGACAGG	0.592000													3	18					0	0	0.004672	0	0
TEX29	121793	broad.mit.edu	37	13	111973266	111973266	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:111973266C>A	ENST00000283547.1	+	2	158	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	10						integral to membrane		p.S10Y(1)									GTGAAGAACTCTCCGCGGCAC	0.647000													44	168					4.10826e-27	5.86013e-27	0.014410	1	0
ADAM17	6868	broad.mit.edu	37	2	9666321	9666321	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:9666321C>A	ENST00000310823.3	-	6	854	c.672G>T	c.(670-672)acG>acT	p.T224T	ADAM17_ENST00000497134.1_Silent_p.T224T	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	224	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.T224T(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATAATTTACACGTGTTCTTCA	0.368000													163	92					1.31085e-71	2.1107e-71	0.014410	1	0
P4HA2	8974	broad.mit.edu	37	5	131545977	131545977	+	Splice_Site	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:131545977C>A	ENST00000401867.1	-	7	1277	c.709_splice	c.e7+1	p.D237_splice	P4HA2_ENST00000166534.4_Splice_Site_p.D237_splice|P4HA2_ENST00000360568.3_Splice_Site_p.D237_splice|P4HA2_ENST00000379086.1_Splice_Site_p.D237_splice|P4HA2_ENST00000379100.2_Splice_Site_p.D237_splice|P4HA2_ENST00000379104.2_Splice_Site_p.D237_splice			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	237						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.D237Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATCTCCTTACCAAGGGAGAGC	0.577000													97	150					2.49909e-37	3.80471e-37	0.014410	1	0
PALLD	23022	broad.mit.edu	37	4	169433085	169433085	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:169433085G>C	ENST00000261509.6	+	2	641	c.430G>C	c.(430-432)Ggt>Cgt	p.G144R	PALLD_ENST00000505667.1_Missense_Mutation_p.G144R|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G21R	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	144					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.G144R(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAAAAGCGTGGTGCAAAAAC	0.512000									Pancreatic Cancer, Familial Clustering of				54	81					0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216513	149216513	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:149216513C>G	ENST00000309241.5	+	8	2527	c.2495C>G	c.(2494-2496)tCt>tGt	p.S832C	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S793C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S768C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S832C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	832					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S832C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCACTTGCTCTGACCACTGC	0.627000													77	138					0	0	0.014410	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967524	58967524	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:58967524G>C	ENST00000391696.1	+	3	2115	c.1183G>C	c.(1183-1185)Gcc>Ccc	p.A395P	ZNF324B_ENST00000336614.4_Missense_Mutation_p.A405P|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A405P			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A405P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGCGGTGCTGCCTTCAGCCA	0.667000													26	93					0	0	0.007291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618058	77618058	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:77618058C>A	ENST00000521891.2	+	2	2183	c.1735C>A	c.(1735-1737)Cgg>Agg	p.R579R	ZFHX4_ENST00000455469.2_Silent_p.R579R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.R579R|ZFHX4_ENST00000050961.6_Silent_p.R579R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	579						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R579R(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)			TGAAATAGCCCGGGGAGACGA	0.572000										HNSCC(33;0.089)			23	68					1.66031e-10	1.90035e-10	0.003954	1	0
YTHDC2	64848	broad.mit.edu	37	5	112878169	112878169	+	Silent	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:112878169C>G	ENST00000161863.4	+	10	1677	c.1464C>G	c.(1462-1464)gtC>gtG	p.V488V	YTHDC2_ENST00000515883.1_Silent_p.V488V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	488							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V488V(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCTCAGGTCTTTCATCTCA	0.294000													16	80					0	0	0.004007	0	0
HRH3	11255	broad.mit.edu	37	20	60791983	60791983	+	Splice_Site	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:60791983C>A	ENST00000340177.5	-	3	702		c.e3-1		HRH3_ENST00000317393.6_Splice_Site	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3						G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	p.?(1)		breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGTATGAGACCTGCAGAAGGG	0.677000													60	32					2.50483e-33	3.68357e-33	0.014410	1	0
ZNF451	26036	broad.mit.edu	37	6	57015521	57015521	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:57015521A>T	ENST00000370706.4	+	11	2857	c.2613A>T	c.(2611-2613)gaA>gaT	p.E871D	ZNF451_ENST00000491832.2_Missense_Mutation_p.E871D|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E871D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTCAGAGGAAGAAATTGTTG	0.338000													43	65					0	0	0.009718	0	0
MAP3K1	4214	broad.mit.edu	37	5	56177585	56177585	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:56177585G>T	ENST00000399503.3	+	14	2558	c.2558G>T	c.(2557-2559)cGt>cTt	p.R853L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	853					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.R690L(1)|p.R853L(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCAGGATGCGTCGCCGTTTG	0.468000													14	76					1.99824e-07	2.19206e-07	0.004990	1	0
C4orf51	646603	broad.mit.edu	37	4	146617753	146617753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:146617753G>A	ENST00000438731.1	+	2	276	c.276G>A	c.(274-276)tgG>tgA	p.W92*		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	92								p.W92*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TTCTCTGCTGGGCTGGTACCC	0.418000													50	84					0	0	0.014410	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219674	79219674	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:79219674C>T	ENST00000374759.3	-	16	3425	c.3042G>A	c.(3040-3042)caG>caA	p.Q1014Q		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1014					amino acid transport|sodium ion transport	integral to membrane		p.Q1014Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCTGGCCTCTGCCTGGGCT	0.687000													9	264					0	0	0.006214	0	0
GLP2R	9340	broad.mit.edu	37	17	9760757	9760757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:9760757G>T	ENST00000262441.5	+	6	1142	c.629G>T	c.(628-630)cGc>cTc	p.R210L	GLP2R_ENST00000574745.1_Missense_Mutation_p.R30L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	210					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R210L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CACTGCACGCGCAACTACATC	0.493000													27	40					4.87955e-14	5.89768e-14	0.005443	1	0
IKZF5	64376	broad.mit.edu	37	10	124753980	124753980	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:124753980G>T	ENST00000368886.5	-	5	896	c.576C>A	c.(574-576)agC>agA	p.S192R	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S192R(1)		endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GTGCTCTTCTGCTATAGCCCA	0.413000													69	304					2.0493e-37	3.12996e-37	0.014410	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	33					0	0	0.009096	0	0
TARS2	80222	broad.mit.edu	37	1	150477145	150477145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:150477145C>T	ENST00000369064.3	+	15	1790	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	TARS2_ENST00000369054.2_Nonsense_Mutation_p.R456*|TARS2_ENST00000606933.1_Nonsense_Mutation_p.R504*	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	586					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.R586*(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTCATTCACCGAGCAGTGCT	0.562000													72	390					0	0	0.014410	0	0
PSG7	5676	broad.mit.edu	37	19	43430163	43430163	+	RNA	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:43430163G>C	ENST00000406070.2	-	0	1101				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTAAATTCTGGGGAGGTCTG	0.483000													146	126					0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53045646	53045646	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:53045646G>T	ENST00000276480.7	-	21	3098	c.2415C>A	c.(2413-2415)acC>acA	p.T805T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	805						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T805T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCTTCCTTGGTAGGGGTCA	0.468000													68	133					3.07281e-33	4.5049e-33	0.014410	1	0
IL7R	3575	broad.mit.edu	37	5	35876564	35876564	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:35876564G>T	ENST00000303115.3	+	8	1485	c.1356G>T	c.(1354-1356)atG>atT	p.M452I	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	452					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.M452I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTCACCATGTCCAGCTTCT	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						22	28					6.12954e-19	7.93332e-19	0.004656	1	0
KIF1A	547	broad.mit.edu	37	2	241661247	241661247	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:241661247A>T	ENST00000498729.2	-	44	4966	c.4720T>A	c.(4720-4722)Tgc>Agc	p.C1574S	KIF1A_ENST00000320389.7_Missense_Mutation_p.C1473S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1473					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.C1473S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCACTGACGCAGACGTGGCTG	0.652000													21	5					0	0	0.006320	0	0
TOP2A	7153	broad.mit.edu	37	17	38564376	38564376	+	Splice_Site	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:38564376C>A	ENST00000423485.1	-	12	1501	c.1342_splice	c.e12-1	p.G448_splice		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	448					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.G448V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTTCGGCCCCCtaaaataaa	0.373000													14	40					0.000219431	0.000231108	0.002450	1	0
SEZ6L	23544	broad.mit.edu	37	22	26706651	26706651	+	Silent	SNP	C	C	T	rs147328329		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:26706651C>T	ENST00000529632.2	+	7	1726	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	SEZ6L_ENST00000343706.4_Silent_p.S510S|SEZ6L_ENST00000402979.1_Silent_p.S283S|SEZ6L_ENST00000404234.3_Silent_p.S510S|SEZ6L_ENST00000248933.6_Silent_p.S510S|SEZ6L_ENST00000403121.1_Silent_p.S283S|SEZ6L_ENST00000360929.3_Silent_p.S510S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	510	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.S510S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGTTCACAGCGGGCAGACCA	0.572000													4	146					0	0	0.000602	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915830	39915830	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:39915830A>G	ENST00000425673.1	+	17	4295	c.3970A>G	c.(3970-3972)Aag>Gag	p.K1324E	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.K1353E|PLEKHG2_ENST00000458508.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1353	Poly-Pro.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.K1353E(1)|p.K1311E(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGGCCAGCCAAGGCCCAGGT	0.687000													9	39					0	0	0.002450	0	0
CNTN2	6900	broad.mit.edu	37	1	205033534	205033534	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:205033534C>A	ENST00000331830.4	+	11	1609	c.1325C>A	c.(1324-1326)cCc>cAc	p.P442H		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	442	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P442H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCTGCCAGCCCCGGGCAGCT	0.637000													181	350					8.72793e-77	1.42466e-76	0.014410	1	0
ZNF595	152687	broad.mit.edu	37	4	59391	59391	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:59391C>A	ENST00000509152.2	+	2	257	c.72C>A	c.(70-72)gcC>gcA	p.A24A	ZNF595_ENST00000526473.2_Silent_p.A24A|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595									p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428000													24	373					4.26978e-12	4.97094e-12	0.003330	1	0
CRCT1	54544	broad.mit.edu	37	1	152487955	152487955	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:152487955G>T	ENST00000368790.3	+	2	169	c.96G>T	c.(94-96)gcG>gcT	p.A32A		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	32								p.A32A(1)		lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccaccccggcgcccgcctcct	0.716000													14	13					1.00905e-13	1.21035e-13	0.008871	1	0
HDAC9	9734	broad.mit.edu	37	7	18869085	18869085	+	Splice_Site	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:18869085G>T	ENST00000406451.3	+	19	2521	c.2369_splice	c.e19-1	p.G791_splice	HDAC9_ENST00000432645.2_Splice_Site_p.G791_splice|HDAC9_ENST00000401921.1_Splice_Site_p.G750_splice|HDAC9_ENST00000441542.2_Splice_Site_p.G794_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	791	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.M793_G794>IW(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTCCGCAGGGGGTTCTGCTT	0.338000													24	61					6.32553e-13	7.4742e-13	0.004656	1	0
ADCY10	55811	broad.mit.edu	37	1	167815391	167815391	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:167815391G>A	ENST00000367848.1	-	20	2769	c.2272C>T	c.(2272-2274)Ccc>Tcc	p.P758S	ADCY10_ENST00000367851.4_Missense_Mutation_p.P850S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P697S|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	850					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.P850S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCCAACAGGGGAGAATCTCA	0.463000													50	287					0	0	0.014410	0	0
GATA2	2624	broad.mit.edu	37	3	128200779	128200779	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:128200779G>A	ENST00000341105.2	-	5	1357	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GATA2_ENST00000487848.1_Silent_p.A342A|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	342					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A342A(1)|p.A341_G346del(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CGGCTCTTCTGGCGGCCGACT	0.667000			Mis		AML(CML blast transformation)								19	103					0	0	0.002780	0	0
HHAT	55733	broad.mit.edu	37	1	210637891	210637891	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:210637891A>T	ENST00000367010.1	+	8	1126	c.899A>T	c.(898-900)tAc>tTc	p.Y300F	HHAT_ENST00000545781.1_Missense_Mutation_p.Y237F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000537898.1_Missense_Mutation_p.Y235F|HHAT_ENST00000391905.3_Missense_Mutation_p.Y300F|HHAT_ENST00000545154.1_Missense_Mutation_p.Y301F|HHAT_ENST00000413764.2_Missense_Mutation_p.Y300F|HHAT_ENST00000261458.3_Missense_Mutation_p.Y300F|HHAT_ENST00000541565.1_Missense_Mutation_p.Y163F|HHAT_ENST00000308852.6_Missense_Mutation_p.Y255F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	300					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.Y300F(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TACGTGAAGTACTTGGTGCTC	0.567000													54	414					0	0	0.014410	0	0
SP7	121340	broad.mit.edu	37	12	53722569	53722569	+	Silent	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:53722569C>G	ENST00000536324.2	-	3	940	c.657G>C	c.(655-657)ggG>ggC	p.G219G	SP7_ENST00000303846.3_Silent_p.G219G|SP7_ENST00000537210.2_Silent_p.G201G	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G219G(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CATGCTGGGGCCCTGGTTGCA	0.597000													25	129					0	0	0.010818	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092768	151092768	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:151092768C>A	ENST00000370335.1	+	3	899	c.632C>A	c.(631-633)gCa>gAa	p.A211E	MAGEA4_ENST00000393920.1_Missense_Mutation_p.A211E|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A211E|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A211E|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A211E|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A211E|MAGEA4_ENST00000360243.2_Missense_Mutation_p.A211E			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	211	MAGE.						protein binding	p.A211E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACAATTGCAATGGAGGGC	0.562000													112	130					8.60386e-38	1.32689e-37	0.014410	1	0
MED13	9969	broad.mit.edu	37	17	60060325	60060325	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:60060325C>G	ENST00000397786.2	-	16	3115	c.3039G>C	c.(3037-3039)agG>agC	p.R1013S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1013					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R1013S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTTGGAGTCCTTGGAGTTG	0.502000													57	61					0	0	0.014410	0	0
NTRK3	4916	broad.mit.edu	37	15	88678594	88678594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:88678594C>A	ENST00000394480.1	-	10	1263	c.942G>T	c.(940-942)gaG>gaT	p.E314D	NTRK3_ENST00000360948.2_Missense_Mutation_p.E314D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E216D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E314D|NTRK3_ENST00000357724.2_Missense_Mutation_p.E314D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E314D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E314D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E314D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E314D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	314	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E314D(3)	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)			CCAGGCGCAGCTCAGGCTCCT	0.607000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	56					1.00905e-13	1.21035e-13	0.008871	1	0
OR5L2	26338	broad.mit.edu	37	11	55595263	55595263	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:55595263C>A	ENST00000378397.1	+	1	569	c.569C>A	c.(568-570)tCt>tAt	p.S190Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S190Y(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)				CTTGCTTGCTCTGATGTCACT	0.453000										HNSCC(27;0.073)			86	66					8.55712e-49	1.35941e-48	0.014410	1	0
PCDH15	65217	broad.mit.edu	37	10	56128953	56128953	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:56128953C>T	ENST00000373965.2	-	5	795	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	PCDH15_ENST00000437009.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R134Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R139Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R134Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R112Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R112Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R134Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	134	Cadherin 1.		R -> G (in DFNB23).		equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R134Q(2)|p.R139Q(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACCACTATTCGCACTTCATG	0.438000										HNSCC(58;0.16)			3	9					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	216420112	216420112	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:216420112G>T	ENST00000366943.2	-	13	3010	c.2624C>A	c.(2623-2625)aCa>aAa	p.T875K	USH2A_ENST00000366942.3_Missense_Mutation_p.T875K|USH2A_ENST00000307340.3_Missense_Mutation_p.T875K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	875	Laminin EGF-like 7.				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.T875K(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)		GCGAAGACCTGTTACCCCTAA	0.438000										HNSCC(13;0.011)			27	77					1.7881e-09	2.01267e-09	0.008361	1	0
SMARCB1	6598	broad.mit.edu	37	22	24129426	24129426	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:24129426G>C	ENST00000344921.6	+	1	277	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	SMARCB1_ENST00000263121.7_Missense_Mutation_p.E24Q|SMARCB1_ENST00000407422.3_Missense_Mutation_p.E24Q|SMARCB1_ENST00000407082.3_Missense_Mutation_p.E24Q			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	24					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.E24Q(2)|p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGACGACGGCGAGTTCTACAT	0.726000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							17	60					0	0	0.010504	0	0
LAMA5	3911	broad.mit.edu	37	20	60906119	60906119	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:60906119T>A	ENST00000252999.3	-	29	3685	c.3619A>T	c.(3619-3621)Atc>Ttc	p.I1207F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1207	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.I1207F(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCTGCTGATGCAGCTGACC	0.692000													14	12					0	0	0.007413	0	0
PRAME	23532	broad.mit.edu	37	22	22890696	22890696	+	Silent	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:22890696A>G	ENST00000543184.1	-	5	2185	c.1323T>C	c.(1321-1323)taT>taC	p.Y441Y	PRAME_ENST00000402697.1_Silent_p.Y441Y|PRAME_ENST00000539862.1_Silent_p.Y425Y|PRAME_ENST00000398741.1_Silent_p.Y441Y|PRAME_ENST00000398743.2_Silent_p.Y441Y|PRAME_ENST00000405655.3_Silent_p.Y441Y|PRAME_ENST00000424204.2_Silent_p.Y425Y	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	441	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.Y441Y(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGGGGACAGGATACAGCACGT	0.542000													74	77					0	0	0.014410	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443760	5443760	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:5443760C>T	ENST00000300778.4	+	1	420	c.330C>T	c.(328-330)tcC>tcT	p.S110S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110S(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGATTCTCCTTTATGGAGT	0.493000													138	94					0	0	0.014410	0	0
CUL1	8454	broad.mit.edu	37	7	148481087	148481087	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:148481087A>C	ENST00000325222.4	+	11	1495	c.1216A>C	c.(1216-1218)Aac>Cac	p.N406H	CUL1_ENST00000602748.1_Missense_Mutation_p.N406H|CUL1_ENST00000409469.1_Missense_Mutation_p.N406H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	406					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.N406H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATAAACAACAACGCGGTTAC	0.468000													40	76					0	0	0.010771	0	0
VEZT	55591	broad.mit.edu	37	12	95645844	95645844	+	Silent	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:95645844A>G	ENST00000436874.1	+	2	270	c.165A>G	c.(163-165)ccA>ccG	p.P55P	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	55						acrosomal vesicle|adherens junction|integral to membrane|nucleus		p.P55P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGTCCTACCAAAAGTAAGAA	0.408000													14	43					0	0	0.004990	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504037	117504037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:117504037G>T	ENST00000393203.2	+	5	1533	c.1386G>T	c.(1384-1386)gaG>gaT	p.E462D		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	462	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.E462D(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGACCAGCGAGCTGCTTGCAG	0.552000													34	94					6.53348e-20	8.54932e-20	0.003755	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1808322	1808322	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:1808322C>T	ENST00000518288.1	+	5	688	c.525C>T	c.(523-525)atC>atT	p.I175I	ARHGEF10_ENST00000349830.3_Silent_p.I151I|ARHGEF10_ENST00000398560.1_Silent_p.I175I|ARHGEF10_ENST00000398564.1_Silent_p.I175I|ARHGEF10_ENST00000262112.6_Silent_p.I175I|ARHGEF10_ENST00000520359.1_Silent_p.I151I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	175					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.I175I(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCCCGGTCATCATCTGCGCCA	0.667000													20	140					0	0	0.014323	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921765	78921765	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:78921765G>A	ENST00000261751.3	-	5	993	c.882C>T	c.(880-882)ctC>ctT	p.L294L	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	294					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.L294L(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACTTGCCGATGAGAGGCACAT	0.572000													29	131					0	0	0.013726	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744565	140744565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:140744565C>A	ENST00000518069.1	+	1	668	c.668C>A	c.(667-669)tCc>tAc	p.S223Y	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.S223Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTACTCTCCGGCACCACG	0.572000													20	84					2.37509e-13	2.82749e-13	0.010504	1	0
MANEA	79694	broad.mit.edu	37	6	96034364	96034364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:96034364C>A	ENST00000358812.4	+	2	183	c.49C>A	c.(49-51)Cta>Ata	p.L17I	MANEA_ENST00000369293.1_Missense_Mutation_p.L17I	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	17					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	p.L17I(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTTTTTATTCTATTTATTTT	0.353000													27	30					1.88708e-17	2.3967e-17	0.008361	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228810	118228810	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:118228810G>T	ENST00000369230.3	+	9	1187	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	347					lipid catabolic process	extracellular region	triglyceride lipase activity	p.G347A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TAAACACAGGGTCCCTTTCCC	0.328000													7	19					0.000157383	0.000166127	0.003080	1	0
PALD1	27143	broad.mit.edu	37	10	72298908	72298908	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:72298908T>C	ENST00000263563.6	+	14	1898	c.1630T>C	c.(1630-1632)Tgg>Cgg	p.W544R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.W544R(1)									GAAGGTTGTCTGGGTGAGCCT	0.687000													6	49					0	0	0.001984	0	0
BPI	671	broad.mit.edu	37	20	36937430	36937430	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:36937430G>T	ENST00000262865.4	+	3	445	c.356G>T	c.(355-357)aGc>aTc	p.S119I	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	119					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.S119I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATCAAGATCAGCGGGAAATGG	0.493000													128	69					2.02856e-45	3.15923e-45	0.014410	1	0
KHK	3795	broad.mit.edu	37	2	27317349	27317349	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:27317349G>C	ENST00000260599.6	+	3	727	c.214G>C	c.(214-216)Gtc>Ctc	p.V72L	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	72					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.V72L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCAGTTTTGTCCTGGATGA	0.597000													4	147					0	0	0.001168	0	0
BDP1	55814	broad.mit.edu	37	5	70759928	70759928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:70759928C>G	ENST00000358731.4	+	4	906	c.643C>G	c.(643-645)Cca>Gca	p.P215A	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	215	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.P215A(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GCCATCGACTCCAGTCCAGAC	0.269000													8	22					0	0	0.004482	0	0
FAM153B	202134	broad.mit.edu	37	5	175530279	175530279	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:175530279G>A	ENST00000253490.4	+	13	771	c.714G>A	c.(712-714)gaG>gaA	p.E238E	FAM153B_ENST00000510151.1_Silent_p.E161E|FAM153B_ENST00000515817.1_Silent_p.E161E|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	238								p.E239*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ACGGCGAGGAGGAGGACCCAG	0.453000													36	385					0	0	0.006999	0	0
FAM208A	23272	broad.mit.edu	37	3	56680580	56680580	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:56680580T>C	ENST00000431842.2	-	7	1921	c.997A>G	c.(997-999)Aat>Gat	p.N333D	FAM208A_ENST00000493960.2_Missense_Mutation_p.N729D|FAM208A_ENST00000355628.5_Missense_Mutation_p.N729D	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	729								p.N333D(1)|p.N729D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCAGATAAATTACTGGTTTTG	0.393000													54	92					0	0	0.014410	0	0
HSPG2	3339	broad.mit.edu	37	1	22159808	22159808	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:22159808T>G	ENST00000374695.3	-	80	11127	c.11048A>C	c.(11047-11049)tAc>tCc	p.Y3683S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3683	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.Y3683S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAACTTCCTGTAGGCATCCTT	0.612000													24	83					0	0	0.004656	0	0
NXPH4	11247	broad.mit.edu	37	12	57619152	57619152	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:57619152G>T	ENST00000349394.5	+	2	724	c.549G>T	c.(547-549)gaG>gaT	p.E183D	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	183	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.E183D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCGCCCTGGAGGGGGTGCTTC	0.741000													73	121					5.97199e-22	8.15143e-22	0.014410	1	0
NCOR2	9612	broad.mit.edu	37	12	124885199	124885199	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:124885199G>A	ENST00000356219.3	-	16	1816	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	NCOR2_ENST00000397355.1_Missense_Mutation_p.S554L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S553L|NCOR2_ENST00000405201.1_Missense_Mutation_p.S554L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S553L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S124L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	554					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.S554L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCCTCCCCTGAGGTGTCGTC	0.577000													75	281					0	0	0.014410	0	0
MBOAT1	154141	broad.mit.edu	37	6	20113163	20113163	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:20113163G>A	ENST00000541730.1	-	10	1301	c.706C>T	c.(706-708)Cct>Tct	p.P236S	MBOAT1_ENST00000324607.7_Missense_Mutation_p.P385S			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	385					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.P385S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TAGTATCCAGGGTAGACACCA	0.473000													7	50					0	0	0.004482	0	0
NMNAT3	349565	broad.mit.edu	37	3	139280150	139280150	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:139280150T>C	ENST00000406824.1	-	7	1325	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	NMNAT3_ENST00000406164.1_Missense_Mutation_p.Q117R|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000296202.7_Missense_Mutation_p.Q154R|NMNAT3_ENST00000339837.5_Missense_Mutation_p.Q117R|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000413939.2_Missense_Mutation_p.Q65R|NMNAT3_ENST00000511444.1_3'UTR|RP11-319G6.1_ENST00000515247.1_RNA			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	154					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.Q117R(1)|p.Q65R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACTATTTCCTGGATGTGCGC	0.542000													9	50					0	0	0.006214	0	0
NFIL3	4783	broad.mit.edu	37	9	94171718	94171718	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:94171718C>T	ENST00000297689.3	-	2	1693	c.1299G>A	c.(1297-1299)ttG>ttA	p.L433L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	433					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L433L(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TCCCCTGCTTCAAATACAAGT	0.403000													39	84					0	0	0.005524	0	0
RYR3	6263	broad.mit.edu	37	15	34102736	34102736	+	Silent	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:34102736C>G	ENST00000389232.4	+	71	10153	c.10083C>G	c.(10081-10083)tcC>tcG	p.S3361S	RYR3_ENST00000415757.3_Silent_p.S3356S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3361					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3361S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTGTATTCCATCCAGACCT	0.502000													23	33					0	0	0.006320	0	0
FMO5	2330	broad.mit.edu	37	1	146672938	146672938	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:146672938T>A	ENST00000254090.4	-	7	1367	c.979A>T	c.(979-981)Atc>Ttc	p.I327F	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.I327F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	327						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.I327F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTGGCAAAGATAACAGCATCA	0.433000													46	43					0	0	0.014410	0	0
RGS7	6000	broad.mit.edu	37	1	241262063	241262063	+	Splice_Site	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:241262063C>T	ENST00000366565.1	-	3	460		c.e3-1		RGS7_ENST00000401882.1_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000407727.1_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000366563.1_Splice_Site	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7						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.?(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)			CGTCTTCCATCTAAACAATAA	0.328000													21	48					0	0	0.010504	0	0
HERC2	8924	broad.mit.edu	37	15	28457617	28457617	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:28457617T>C	ENST00000261609.7	-	43	7007	c.6899A>G	c.(6898-6900)aAg>aGg	p.K2300R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2300					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.K2300R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCGATTTCTTTATTTTGTG	0.448000													109	165					0	0	0.014410	0	0
PCK1	5105	broad.mit.edu	37	20	56138620	56138620	+	Splice_Site	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:56138620G>T	ENST00000319441.4	+	6	962		c.e6-1		PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Splice_Site	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)						gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTCCCCAACAGATTCTGGGTA	0.522000													60	121					1.34159e-35	2.01027e-35	0.014410	1	0
TRGC2	6967	broad.mit.edu	37	7	38288904	38288904	+	RNA	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:38288904T>A	ENST00000436911.2	-	0	269																											TTCTCATGTCTGACGATACAT	0.388000													29	63					0	0	0.008361	0	0
FRY	10129	broad.mit.edu	37	13	32698990	32698990	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:32698990A>C	ENST00000380250.3	+	7	1190	c.694A>C	c.(694-696)Att>Ctt	p.I232L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.I232L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCAGAAGTCATTGGAGTGTT	0.463000													25	35					0	0	0.013726	0	0
KRT33B	3884	broad.mit.edu	37	17	39521771	39521771	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:39521771C>T	ENST00000251646.3	-	4	672	c.623G>A	c.(622-624)cGc>cAc	p.R208H		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	208	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity	p.R208H(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CACGTTGAGGCGGTCTCCAAG	0.527000													10	73					0	0	0.010729	0	0
CCDC178	374864	broad.mit.edu	37	18	30806766	30806766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:30806766C>A	ENST00000383096.3	-	16	1829	c.1647G>T	c.(1645-1647)atG>atT	p.M549I	CCDC178_ENST00000583930.1_Missense_Mutation_p.M549I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.M549I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M549I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M549I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M549I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M549I					coiled-coil domain containing 178									p.M549I(2)									CCTGAAGCACCATTCCAGCAG	0.313000													16	20					9.16793e-09	1.02225e-08	0.004990	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17696555	17696555	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:17696555C>A	ENST00000399080.2	-	1	3151	c.3128G>T	c.(3127-3129)aGt>aTt	p.S1043I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1043								p.S1043I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTTGGTGACTTTTGCCCAT	0.353000													37	13					1.00001e-27	1.43073e-27	0.009718	1	0
DNAH3	55567	broad.mit.edu	37	16	20944578	20944578	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:20944578G>A	ENST00000261383.3	-	62	12248	c.12249C>T	c.(12247-12249)ggC>ggT	p.G4083G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4083					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G4083G(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTAGAGTGGCCTGTGGTGG	0.537000													138	193					0	0	0.014410	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	13					1.28384e-07	1.41163e-07	0.012319	1	0
RIC8B	55188	broad.mit.edu	37	12	107209055	107209055	+	Silent	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:107209055G>C	ENST00000392837.4	+	3	865	c.714G>C	c.(712-714)acG>acC	p.T238T	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Silent_p.T198T|RIC8B_ENST00000392839.2_Silent_p.T238T			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	238					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	p.T238T(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TCAATGTGACGGTAGACAGTT	0.473000													34	50					0	0	0.003271	0	0
DPH6	89978	broad.mit.edu	37	15	35746951	35746951	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:35746951T>A	ENST00000256538.4	-	4	409	c.383A>T	c.(382-384)aAt>aTt	p.N128I		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6									p.N128I(1)									TTCTTACACATTTTCCACTCG	0.264000													8	29					0	0	0.010729	0	0
ROPN1B	152015	broad.mit.edu	37	3	125694456	125694456	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:125694456C>A	ENST00000514116.1	+	4	482	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S56Y			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	56					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	p.S56Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		AGAGAGCGGTCTGAGCGAGTC	0.517000													23	134					4.40665e-25	6.13829e-25	0.009535	1	0
SLC28A2	9153	broad.mit.edu	37	15	45545435	45545435	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:45545435C>A	ENST00000347644.3	+	2	87	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	CTD-2651B20.3_ENST00000559003.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	8					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.Q8K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AAGTGGAAGACAGTCCATTGC	0.512000													15	21					1.3612e-06	1.45953e-06	0.003163	1	0
ZIM3	114026	broad.mit.edu	37	19	57647096	57647096	+	Silent	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:57647096T>C	ENST00000269834.1	-	5	994	c.609A>G	c.(607-609)gcA>gcG	p.A203A		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A203A(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)		TCTCCCCGAATGCTCTTCCAC	0.443000													47	163					0	0	0.014410	0	0
PALLD	23022	broad.mit.edu	37	4	169589482	169589482	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:169589482C>G	ENST00000261509.6	+	3	1261	c.1050C>G	c.(1048-1050)agC>agG	p.S350R	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.S350R|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.S227R	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	350	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.S350R(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CGAATCCCAGCGGCTCAGACA	0.522000									Pancreatic Cancer, Familial Clustering of				15	101					0	0	0.006122	0	0
EGLN3	112399	broad.mit.edu	37	14	34419700	34419700	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:34419700C>A	ENST00000547327.2	-	1	587	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C	EGLN3_ENST00000250457.3_Missense_Mutation_p.G87C|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	87					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	p.E86_G87>DC(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GCCTCGCAGCCCTCCTCGTTG	0.687000													22	65					4.7796e-09	5.35451e-09	0.004656	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686548	53686548	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:53686548T>C	ENST00000262135.4	-	15	2144	c.2051A>G	c.(2050-2052)cAg>cGg	p.Q684R	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.Q684R|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.Q684R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.Q684R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	684	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.Q684R(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTATAAGCCTGGTGGACCTC	0.333000													3	77					0	0	0.004672	0	0
TMTC1	83857	broad.mit.edu	37	12	29659837	29659837	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:29659837G>T	ENST00000256062.5	-	18	2740	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	TMTC1_ENST00000552618.1_Missense_Mutation_p.A888D|TMTC1_ENST00000539277.1_Missense_Mutation_p.A864D|TMTC1_ENST00000551659.1_Missense_Mutation_p.A926D|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	864						integral to membrane	binding	p.A756D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATCCAATTTGGCAAGATTTTC	0.458000													31	53					5.91797e-21	7.89616e-21	0.012213	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G	rs140304162	by1000genomes	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:20170018C>G	ENST00000338912.5	-	0	253																		p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547000													3	225					0	0	0.004672	0	0
CASD1	64921	broad.mit.edu	37	7	94181710	94181710	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:94181710G>A	ENST00000297273.4	+	16	2292	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	669						integral to membrane		p.E669K(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGTGCAATGAACTCCATCC	0.363000													16	73					0	0	0.008871	0	0
GPR50	9248	broad.mit.edu	37	X	150348572	150348572	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:150348572C>A	ENST00000218316.3	+	2	586	c.517C>A	c.(517-519)Cct>Act	p.P173T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	173					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.P173T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTACGATCCTCGCACCTA	0.522000													145	141					1.13124e-70	1.81534e-70	0.014410	1	0
UTP20	27340	broad.mit.edu	37	12	101728221	101728221	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:101728221G>C	ENST00000261637.4	+	29	3754	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1194					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.E1194Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTTGGATCTGAGAGTCAATA	0.358000													4	20					0	0	0.009096	0	0
IL12RB2	3595	broad.mit.edu	37	1	67795269	67795269	+	Splice_Site	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:67795269G>T	ENST00000262345.1	+	6	1304		c.e6-1		IL12RB2_ENST00000541374.1_Splice_Site|IL12RB2_ENST00000544434.1_Splice_Site|IL12RB2_ENST00000371000.1_Splice_Site	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTGGTTACTAGTGAGGCCTCT	0.418000													13	55					1.65356e-20	2.19397e-20	0.003163	1	0
ZIC1	7545	broad.mit.edu	37	3	147128524	147128524	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:147128524G>T	ENST00000282928.4	+	1	1354	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	209					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G209C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGCGCATCACGGCGCCGGCGC	0.642000													12	90					2.68362e-12	3.14746e-12	0.013537	1	0
DOCK1	1793	broad.mit.edu	37	10	129152931	129152931	+	Splice_Site	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:129152931A>G	ENST00000280333.6	+	32	3270		c.e32-1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTGATTTCCAGGTACGGAGA	0.433000													49	207					0	0	0.014410	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247339	142247339	+	RNA	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:142247339C>A	ENST00000390361.3	-	0	166																											CACACCTGAGCTCTACATATT	0.512000													31	83					1.06801e-11	1.23733e-11	0.009535	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228809	118228809	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:118228809G>C	ENST00000369230.3	+	9	1186	c.1040G>C	c.(1039-1041)gGg>gCg	p.G347A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	347					lipid catabolic process	extracellular region	triglyceride lipase activity	p.G347A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTAAACACAGGGTCCCTTTCC	0.323000													6	19					0	0	0.001984	0	0
MMP13	4322	broad.mit.edu	37	11	102816471	102816471	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:102816471C>T	ENST00000260302.3	-	9	1247	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	MMP13_ENST00000340273.4_Missense_Mutation_p.D407N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	407	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.D407N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGGTTAGTATCATCATATCTA	0.294000													7	44					0	0	0.004482	0	0
HEATR1	55127	broad.mit.edu	37	1	236746143	236746143	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:236746143T>C	ENST00000366582.3	-	19	2569	c.2455A>G	c.(2455-2457)Aaa>Gaa	p.K819E	HEATR1_ENST00000366581.2_Missense_Mutation_p.K819E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	819					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.K819E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGTCTTCTTTCAGTTGTTCA	0.418000													55	55					0	0	0.014410	0	0
GATAD2B	57459	broad.mit.edu	37	1	153789863	153789863	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:153789863G>A	ENST00000368655.4	-	6	1128	c.885C>T	c.(883-885)gcC>gcT	p.A295A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	295						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A295A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATAATTGATGGCGGGATTCA	0.507000													28	124					0	0	0.012213	0	0
HDAC9	9734	broad.mit.edu	37	7	18869084	18869084	+	Splice_Site	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:18869084G>T	ENST00000406451.3	+	19	2520	c.2369_splice	c.e19-1	p.M790_splice	HDAC9_ENST00000432645.2_Splice_Site_p.M790_splice|HDAC9_ENST00000401921.1_Splice_Site_p.M749_splice|HDAC9_ENST00000441542.2_Splice_Site_p.M793_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	790	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.M793_G794>IW(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TATTCCGCAGGGGGTTCTGCT	0.333000													24	62					6.32553e-13	7.4742e-13	0.004656	1	0
KCNH5	27133	broad.mit.edu	37	14	63416870	63416870	+	Silent	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:63416870C>G	ENST00000322893.7	-	7	1618	c.1350G>C	c.(1348-1350)gtG>gtC	p.V450V	KCNH5_ENST00000394964.2_Silent_p.V392V|KCNH5_ENST00000420622.2_Silent_p.V450V|KCNH5_ENST00000394968.1_Silent_p.V392V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	450					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.V392V(1)|p.V450V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCATCATAGCCACCGAAAACA	0.373000													29	38					0	0	0.008361	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	17					0	0	0.001168	0	0
SGCD	6444	broad.mit.edu	37	5	156186311	156186311	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:156186311C>G	ENST00000435422.3	+	8	1267	c.780C>G	c.(778-780)ttC>ttG	p.F260L	SGCD_ENST00000337851.4_Missense_Mutation_p.F261L	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488000													39	75					0	0	0.008740	0	0
PRKRA	8575	broad.mit.edu	37	2	179306402	179306402	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:179306402T>A	ENST00000325748.4	-	6	744	c.544A>T	c.(544-546)Agg>Tgg	p.R182W	PRKRA_ENST00000438687.3_Missense_Mutation_p.R69W|PRKRA_ENST00000487082.1_Missense_Mutation_p.R157W|PRKRA_ENST00000432031.2_Missense_Mutation_p.R171W	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	182	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	p.R182W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GCAGCATTCCTTTTGGCTTGC	0.348000													8	169					0	0	0.003080	0	0
OR2M3	127062	broad.mit.edu	37	1	248366751	248366751	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:248366751C>G	ENST00000456743.1	+	1	420	c.382C>G	c.(382-384)Cac>Gac	p.H128D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H128D(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCCATTTGCCACCCTCTAAG	0.448000													39	201					0	0	0.006999	0	0
ZNF512	84450	broad.mit.edu	37	2	27822533	27822533	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:27822533C>A	ENST00000355467.4	+	4	444	c.361C>A	c.(361-363)Cat>Aat	p.H121N	ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Missense_Mutation_p.H120N|ZNF512_ENST00000413371.2_Missense_Mutation_p.H44N|ZNF512_ENST00000556601.1_Missense_Mutation_p.S31R|ZNF512_ENST00000379717.1_Missense_Mutation_p.H120N|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H121N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TCAGAAGAAGCATAAGCTTTA	0.428000													64	38					1.12612e-26	1.60151e-26	0.014410	1	0
ZZEF1	23140	broad.mit.edu	37	17	3981186	3981186	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:3981186T>C	ENST00000381638.2	-	19	3104	c.2980A>G	c.(2980-2982)Att>Gtt	p.I994V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	994							calcium ion binding|zinc ion binding	p.I994V(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTTTTCAATAAGGTCCACG	0.463000													31	143					0	0	0.008361	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922951	92922951	+	Splice_Site	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:92922951G>A	ENST00000532405.1	+	12	1480	c.1255_splice	c.e12+1	p.P418_splice	SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Splice_Site_p.P354_splice|SLC24A4_ENST00000298877.1_Splice_Site_p.P401_splice|SLC24A4_ENST00000531433.1_Splice_Site_p.P399_splice|SLC24A4_ENST00000351924.5_Splice_Site_p.P382_splice			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	418						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.P401P(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTCCGTGCCGGGTGAGTTCT	0.622000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	68					0	0	0.004990	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634945	70634945	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:70634945C>A	ENST00000381269.2	-	2	948	c.195G>T	c.(193-195)ccG>ccT	p.P65P	SLC8A3_ENST00000356921.2_Silent_p.P65P|SLC8A3_ENST00000357887.3_Silent_p.P65P|SLC8A3_ENST00000528359.1_Silent_p.P65P|SLC8A3_ENST00000534137.1_Silent_p.P65P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	65					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.P65P(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGGGTTCTCCGGGTACCAGA	0.547000													14	51					4.14922e-12	4.84245e-12	0.004007	1	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100922	27100922	+	Silent	SNP	C	C	G	rs143036813		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:27100922C>G	ENST00000359193.2	+	1	91	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	24					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.L24L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GGGCCGGTCTCCAGTTCCCCG	0.662000													35	68					0	0	0.003271	0	0
ZNF225	7768	broad.mit.edu	37	19	44636444	44636444	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:44636444G>C	ENST00000262894.6	+	5	1957	c.1677G>C	c.(1675-1677)caG>caC	p.Q559H	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.Q559H	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q559H(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ACATGCACCAGAGGGTCCACA	0.438000													13	127					0	0	0.002450	0	0
SOHLH2	54937	broad.mit.edu	37	13	36776079	36776079	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:36776079A>G	ENST00000379881.3	-	2	288	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SOHLH2_ENST00000317764.6_Missense_Mutation_p.M67T|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.M144T|SOHLH2_ENST00000554962.1_Missense_Mutation_p.M144T	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.M67T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAAGAGAACCATGTTGAATAT	0.423000													43	51					0	0	0.014410	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247527	142247527	+	RNA	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:142247527G>A	ENST00000390361.3	-	0	88																											CTGCCCCCAGGAGGCACAGGG	0.557000													102	226					0	0	0.014410	0	0
ZNF202	7753	broad.mit.edu	37	11	123597574	123597574	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:123597574C>T	ENST00000336139.4	-	8	1440	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	ZNF202_ENST00000529691.1_Missense_Mutation_p.D360N|ZNF202_ENST00000530393.1_Missense_Mutation_p.D360N			O95125	ZN202_HUMAN	zinc finger protein 202	360					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D360N(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTGGATTGTCCTCAAAGACT	0.433000													224	152					0	0	0.014410	0	0
PAX4	5078	broad.mit.edu	37	7	127251682	127251682	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:127251682G>A	ENST00000338516.3	-	8	763	c.764C>T	c.(763-765)aCt>aTt	p.T255I	PAX4_ENST00000341640.2_Silent_p.L266L|PAX4_ENST00000378740.2_Silent_p.L266L|PAX4_ENST00000463946.1_Silent_p.L264L			O43316	PAX4_HUMAN	paired box 4	0					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L266L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGGGACCCAGTGGTTCCAGG	0.552000													73	185					0	0	0.014410	0	0
AFM	173	broad.mit.edu	37	4	74349697	74349697	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:74349697T>C	ENST00000226355.3	+	2	221	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	43	Albumin 1.				vitamin transport		vitamin E binding	p.I43T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGATAATATTGAATACATG	0.229000													10	7					0	0	0.006214	0	0
SNCA	6622	broad.mit.edu	37	4	90743427	90743427	+	Silent	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:90743427A>T	ENST00000394989.2	-	3	496	c.234T>A	c.(232-234)acT>acA	p.T78T	SNCA_ENST00000506244.1_Silent_p.T92T|SNCA_ENST00000502987.1_Silent_p.T92T|SNCA_ENST00000345009.4_Silent_p.T92T|SNCA_ENST00000394986.1_Silent_p.T92T|SNCA_ENST00000505199.1_Silent_p.T78T|SNCA_ENST00000508895.1_Silent_p.T92T|SNCA_ENST00000394991.3_Silent_p.T92T|SNCA_ENST00000336904.3_Silent_p.T92T|SNCA_ENST00000420646.2_Silent_p.T92T			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	92					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	p.T92T(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGACAAAGCCAGTGGCTGCTG	0.498000													16	59					0	0	0.014323	0	0
CDC20B	166979	broad.mit.edu	37	5	54429307	54429307	+	Silent	SNP	A	A	G	rs149160251		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:54429307A>G	ENST00000334206.5	-	6	806	c.630T>C	c.(628-630)ggT>ggC	p.G210G	CDC20B_ENST00000381375.2_Silent_p.G210G|CDC20B_ENST00000322374.6_Silent_p.G210G|CDC20B_ENST00000296733.1_Silent_p.G210G			Q86Y33	CD20B_HUMAN	cell division cycle 20B	210								p.G210G(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CGTTTATATCACCAGAACTTT	0.348000													46	90					0	0	0.013114	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	105					0	0	0.009096	0	0
MFSD10	10227	broad.mit.edu	37	4	2934882	2934882	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:2934882C>A	ENST00000329687.4	-	3	857	c.323G>T	c.(322-324)gGg>gTg	p.G108V	MFSD10_ENST00000514800.1_Missense_Mutation_p.G108V|MFSD10_ENST00000508221.1_Missense_Mutation_p.G108V|MFSD10_ENST00000507555.1_Missense_Mutation_p.G108V|MFSD10_ENST00000355443.4_Missense_Mutation_p.G108V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	108					apoptosis	integral to membrane	tetracycline transporter activity	p.G108V(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAGGTGGCCCCAGTGAGTGG	0.627000													20	75					2.70639e-06	2.89535e-06	0.014323	1	0
ALOX15	246	broad.mit.edu	37	17	4539076	4539076	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:4539076G>A	ENST00000570836.1	-	9	1235	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	ALOX15_ENST00000293761.3_Missense_Mutation_p.P380L|ALOX15_ENST00000545513.1_Missense_Mutation_p.P402L|ALOX15_ENST00000574640.1_Missense_Mutation_p.P341L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	380	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.P380L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATGTATCGACGGCAGGCACCT	0.562000													54	107					0	0	0.014410	0	0
C3	718	broad.mit.edu	37	19	6692982	6692982	+	Missense_Mutation	SNP	C	C	G	rs121909585		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:6692982C>G	ENST00000245907.6	-	26	3435	c.3343G>C	c.(3343-3345)Gac>Cac	p.D1115H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1115			D -> N (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.D1115H(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAGACCCCGTCGGGCTTCTGC	0.557000													182	166					0	0	0.014410	0	0
CSF1R	1436	broad.mit.edu	37	5	149449494	149449494	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:149449494C>T	ENST00000286301.3	-	10	1743	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	484	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E484E(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCCCTGCACTCGTAGGTTT	0.637000													35	76					0	0	0.006999	0	0
ALPK3	57538	broad.mit.edu	37	15	85400144	85400144	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:85400144G>T	ENST00000258888.5	+	6	2948	c.2781G>T	c.(2779-2781)gaG>gaT	p.E927D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	927					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.E927D(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAGTCTGAGCAAGAGGTGG	0.577000													46	174					5.73435e-26	8.05863e-26	0.014410	1	0
ZNF536	9745	broad.mit.edu	37	19	30935348	30935348	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:30935348C>T	ENST00000355537.3	+	2	1026	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.I293I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCGCCACATCCGCATCTTGC	0.647000													171	177					0	0	0.014410	0	0
PSG5	5673	broad.mit.edu	37	19	43679379	43679379	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:43679379C>A	ENST00000404580.1	-	4	1040	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	PSG5_ENST00000599812.1_Missense_Mutation_p.V411F|PSG5_ENST00000407356.1_Missense_Mutation_p.V318F|PSG5_ENST00000342951.6_Missense_Mutation_p.V318F|PSG5_ENST00000366175.3_Missense_Mutation_p.V318F|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	318					female pregnancy	extracellular region		p.V318F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGACTTCGACTGTCATGGAT	0.443000													307	248					3.02461e-142	5.00589e-142	0.014410	1	0
RBP3	5949	broad.mit.edu	37	10	48387854	48387854	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:48387854C>A	ENST00000224600.4	-	1	3137	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1008	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.K1008N(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAATGCGGTCCTTGGCATTCT	0.597000													121	189					9.71625e-80	1.59696e-79	0.014410	1	0
LGR6	59352	broad.mit.edu	37	1	202287785	202287785	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:202287785T>A	ENST00000367278.3	+	18	2443	c.2354T>A	c.(2353-2355)cTc>cAc	p.L785H	LGR6_ENST00000255432.7_Missense_Mutation_p.L733H|LGR6_ENST00000439764.2_Missense_Mutation_p.L646H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	785						integral to membrane|plasma membrane	protein-hormone receptor activity	p.L785H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GACGGGCTCCTCTACTGTCCC	0.642000													136	106					0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463461	5463461	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:5463461G>A	ENST00000296564.7	+	13	4236	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1338								p.Q1338Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTATGCCTCAGAATGAAAACC	0.572000													13	30					0	0	0.001855	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797799	31797799	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr21:31797799G>T	ENST00000390690.2	-	1	487	c.432C>A	c.(430-432)tcC>tcA	p.S144S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	144						intermediate filament		p.S144S(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGCAGAATCTGGATCTATAAC	0.453000													8	54					0.000274275	0.000288232	0.004482	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865302	140865302	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:140865302G>A	ENST00000306593.1	+	1	562	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.G188S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGCGACGGCAGCCTGGT	0.567000													22	72					0	0	0.002780	0	0
GPR149	344758	broad.mit.edu	37	3	154145355	154145355	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:154145355A>G	ENST00000389740.2	-	2	1223	c.1124T>C	c.(1123-1125)aTc>aCc	p.I375T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	375						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I375T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAGTTGATGATGCAGCCACA	0.507000													45	27					0	0	0.014410	0	0
NEK2	4751	broad.mit.edu	37	1	211836943	211836943	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:211836943C>T	ENST00000366999.4	-	8	1301	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E	NEK2_ENST00000540251.1_Missense_Mutation_p.G345E|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	388	Interaction with PCNT.|Necessary for interaction with MAD1L1.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	p.G388E(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTTACTTTCCCCACTGAAATG	0.408000													5	44					0	0	0.001168	0	0
SEC24D	9871	broad.mit.edu	37	4	119666152	119666152	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:119666152C>A	ENST00000379735.5	-	14	2045	c.1774G>T	c.(1774-1776)Ggg>Tgg	p.G592W	SEC24D_ENST00000511481.1_Missense_Mutation_p.G222W|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.G147W|SEC24D_ENST00000280551.6_Missense_Mutation_p.G591W|SEC24D_ENST00000429811.2_Missense_Mutation_p.G147W	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	591					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.G591W(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTGAGCTTCCCTGGTGCTTCA	0.383000													22	107					6.12954e-19	7.93332e-19	0.004656	1	0
LAMB2	3913	broad.mit.edu	37	3	49161963	49161963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:49161963C>A	ENST00000418109.1	-	23	3356	c.3192G>T	c.(3190-3192)caG>caT	p.Q1064H	LAMB2_ENST00000305544.4_Missense_Mutation_p.Q1064H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1064	Laminin EGF-like 11.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.Q1064H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCATGGGCACTGCCCACTGC	0.612000													22	60					1.42536e-11	1.64331e-11	0.004656	1	0
SMYD1	150572	broad.mit.edu	37	2	88387418	88387418	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:88387418G>T	ENST00000419482.2	+	3	437	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C	SMYD1_ENST00000444564.2_Missense_Mutation_p.G118C|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G118C(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGAGAGAGAAGGCACCGGGCT	0.622000													18	10					1.40151e-16	1.76116e-16	0.010504	1	0
ELP4	26610	broad.mit.edu	37	11	31531495	31531495	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:31531495C>T	ENST00000395934.2	+	1	171	c.164C>T	c.(163-165)tCg>tTg	p.S55L	ELP4_ENST00000379163.5_Missense_Mutation_p.S55L|ELP4_ENST00000350638.5_Missense_Mutation_p.S55L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	55					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	p.S55L(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ACGCGACCGTCGGTGCGGAAT	0.627000													20	125					0	0	0.014323	0	0
CELSR3	1951	broad.mit.edu	37	3	48699962	48699962	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:48699962C>T	ENST00000544264.1	-	1	386	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G36S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	36					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.G36S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCCCACCGCCCCCCAGCTCC	0.697000													9	49					0	0	0.006214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871282	57871282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:57871282C>A	ENST00000393797.2	-	7	1121	c.929G>T	c.(928-930)tGc>tTc	p.C310F	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.C239F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C239F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C239F|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.C318F|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C55F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	239					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.C239F(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCAGGACTTGCAGCCAGTCAG	0.617000													66	122					8.21609e-47	1.29227e-46	0.014410	1	0
FCGBP	8857	broad.mit.edu	37	19	40368402	40368402	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:40368402C>G	ENST00000221347.6	-	28	12953	c.12946G>C	c.(12946-12948)Ggg>Cgg	p.G4316R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4316						extracellular region	protein binding	p.G4316R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCACGGTCCCCACCACCCATG	0.617000													21	316					0	0	0.009535	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773816	35773816	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:35773816G>T	ENST00000360215.1	+	1	746	c.369G>T	c.(367-369)acG>acT	p.T123T	LHFPL5_ENST00000373853.1_Silent_p.T123T	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	123						integral to membrane		p.T123T(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAACACGGCCACAGTCT	0.577000													65	93					4.67498e-28	6.72914e-28	0.014410	1	0
CDH11	1009	broad.mit.edu	37	16	65022079	65022079	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:65022079C>A	ENST00000394156.3	-	7	1433	c.980G>T	c.(979-981)gGg>gTg	p.G327V	CDH11_ENST00000268603.4_Missense_Mutation_p.G327V|CDH11_ENST00000566827.1_Missense_Mutation_p.G201V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G327V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTTATCACCCCCTCCTGTGT	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	188					7.93312e-07	8.56416e-07	0.002450	1	0
AHCTF1	25909	broad.mit.edu	37	1	247063503	247063503	+	Silent	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:247063503T>A	ENST00000366508.1	-	10	1537	c.1401A>T	c.(1399-1401)tcA>tcT	p.S467S	AHCTF1_ENST00000391829.2_Silent_p.S432S|AHCTF1_ENST00000326225.3_Silent_p.S441S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	432	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.S432S(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAGACTCCAATGACCACAGTG	0.363000													48	114					0	0	0.014410	0	0
KEL	3792	broad.mit.edu	37	7	142651458	142651458	+	Splice_Site	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:142651458A>G	ENST00000355265.2	-	8	1211	c.735_splice	c.e8-1	p.I246_splice	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	246					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.I246T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTCCCGAAAGATCTGGAGGAA	0.532000													28	152					0	0	0.006320	0	0
UNC13C	440279	broad.mit.edu	37	15	54786899	54786899	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:54786899C>T	ENST00000545554.1	+	19	5027	c.5027C>T	c.(5026-5028)cCt>cTt	p.P1676L	UNC13C_ENST00000537900.1_Missense_Mutation_p.P1674L|UNC13C_ENST00000260323.11_Missense_Mutation_p.P1676L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1676	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.P1676L(2)|p.P1676N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CGTGAACTTCCTGCCTTCAAG	0.353000													7	48					0	0	0.008291	0	0
KMT2B	9757	broad.mit.edu	37	19	36228979	36228979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:36228979C>T	ENST00000420124.1	+	36	7759	c.7759C>T	c.(7759-7761)Cga>Tga	p.R2587*	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Nonsense_Mutation_p.R2587*														p.R2589*(1)									CATCCACGGGCGAGGCCTGTT	0.597000													18	134					0	0	0.002780	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959832	92959832	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:92959832C>G	ENST00000532405.1	+	17	1955	c.1729C>G	c.(1729-1731)Cac>Gac	p.H577D	SLC24A4_ENST00000393265.2_Missense_Mutation_p.H513D|SLC24A4_ENST00000298877.1_Missense_Mutation_p.H560D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.H558D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.H541D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	577						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.H560D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCTCGGCATCCACCTAAACAA	0.507000													17	50					0	0	0.008871	0	0
SLC43A1	8501	broad.mit.edu	37	11	57258837	57258837	+	Splice_Site	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:57258837T>A	ENST00000278426.3	-	11	1410		c.e11-2		SLC43A1_ENST00000533515.1_Splice_Site|SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	p.?(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAACCCAACTGGGCAGGATG	0.592000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	62					0	0	0.006214	0	0
PRKDC	5591	broad.mit.edu	37	8	48826536	48826536	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:48826536T>A	ENST00000314191.2	-	24	2762	c.2706A>T	c.(2704-2706)aaA>aaT	p.K902N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K902N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	902					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.K902N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAATGACAGGTTTCATCTCTC	0.463000								Non-homologous end-joining					39	82					0	0	0.005524	0	0
ZEB1	6935	broad.mit.edu	37	10	31809098	31809098	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:31809098C>T	ENST00000446923.2	+	7	1178	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	ZEB1_ENST00000542815.3_Missense_Mutation_p.H212Y|ZEB1_ENST00000320985.10_Missense_Mutation_p.H279Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.H280Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.H259Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	279					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.H279Y(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACGCTTTTCCCATTCTGGCTC	0.368000													14	25					0	0	0.004007	0	0
FSIP2	401024	broad.mit.edu	37	2	186671025	186671025	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:186671025G>T	ENST00000343098.5	+	17	17259	c.17259G>T	c.(17257-17259)acG>acT	p.T5753T	FSIP2_ENST00000424728.1_Silent_p.T5664T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T362T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAACACAAACGTGTAGGGATG	0.378000													16	6					2.5808e-16	3.226e-16	0.006122	1	0
ZNF211	10520	broad.mit.edu	37	19	58153284	58153284	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:58153284G>T	ENST00000544273.1	+	5	1793	c.1466G>T	c.(1465-1467)gGa>gTa	p.G489V	ZNF211_ENST00000420680.1_Missense_Mutation_p.G481V|ZNF211_ENST00000541801.1_Missense_Mutation_p.G468V|ZNF211_ENST00000299871.5_Missense_Mutation_p.G542V|ZNF211_ENST00000254182.7_Missense_Mutation_p.G468V|ZNF211_ENST00000240731.4_Missense_Mutation_p.G490V|ZNF211_ENST00000347302.3_Missense_Mutation_p.G477V|ZNF211_ENST00000391703.3_Missense_Mutation_p.G416V			Q13398	ZN211_HUMAN	zinc finger protein 211	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G490V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTCACACTGGAGAAAGACCT	0.458000													18	71					1.56452e-12	1.83948e-12	0.007413	1	0
SNHG11	128439	broad.mit.edu	37	20	37076785	37076785	+	RNA	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:37076785G>C	ENST00000365032.1	+	0	59																											AGTGCAGGCAGAGGAAATGCG	0.552000													86	241					0	0	0.014410	0	0
KIF19	124602	broad.mit.edu	37	17	72345452	72345452	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:72345452G>T	ENST00000389916.4	+	10	1315	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	393					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G393C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGGCCCGGGGCCGGCAGGA	0.662000													54	41					9.65139e-37	1.46e-36	0.014410	1	0
AOC1	26	broad.mit.edu	37	7	150553664	150553664	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:150553664C>A	ENST00000493429.1	+	4	690	c.106C>A	c.(106-108)Cta>Ata	p.L36I	AOC1_ENST00000360937.4_Missense_Mutation_p.L36I|AOC1_ENST00000416793.2_Missense_Mutation_p.L36I|AOC1_ENST00000467291.1_Missense_Mutation_p.L36I					amine oxidase, copper containing 1									p.L36I(1)									GTTTTCAGACCTAAGCAACCA	0.637000													47	137					1.86633e-21	2.51136e-21	0.014410	1	0
SERPINB3	6317	broad.mit.edu	37	18	61323207	61323207	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:61323207C>G	ENST00000283752.5	-	8	1000	c.857G>C	c.(856-858)cGg>cCg	p.R286P	SERPINB3_ENST00000332821.8_Missense_Mutation_p.R234P|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	286					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.R286P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACTTTGAACCGAGGTAAGTG	0.458000													27	38					0	0	0.008361	0	0
OR2G3	81469	broad.mit.edu	37	1	247769603	247769603	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:247769603G>T	ENST00000320002.2	+	1	748	c.716G>T	c.(715-717)aGc>aTc	p.S239I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S239I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			AAAGCCTTCAGCACCTGCTCC	0.483000													28	21					7.26314e-15	8.89173e-15	0.007291	1	0
OAZ3	51686	broad.mit.edu	37	1	151743591	151743591	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:151743591G>A	ENST00000321531.5	+	6	636	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	OAZ3_ENST00000315067.8_Missense_Mutation_p.V157M|OAZ3_ENST00000400999.1_Silent_p.R19R|OAZ3_ENST00000479764.1_Silent_p.R19R|OAZ3_ENST00000453029.2_Missense_Mutation_p.V170M			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	154					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	p.V201M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GGGCTTTGAGGTGGTCAGACC	0.512000													108	220					0	0	0.014410	0	0
INTS6	26512	broad.mit.edu	37	13	51957877	51957877	+	Splice_Site	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:51957877G>A	ENST00000311234.4	-	8	1367	c.894_splice	c.e8-1	p.P299_splice	INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Splice_Site_p.P121_splice|INTS6_ENST00000398119.2_Splice_Site_p.P286_splice|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	299					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.P299S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTACGAGGTGGCTAAAGGGGA	0.353000													4	77					0	0	0.009096	0	0
DDR1	780	broad.mit.edu	37	6	30860208	30860208	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:30860208A>G	ENST00000324771.8	+	10	1536	c.988A>G	c.(988-990)Aga>Gga	p.R330G	DDR1_ENST00000418800.2_Missense_Mutation_p.R330G|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.R330G|DDR1_ENST00000513240.1_Missense_Mutation_p.R330G|DDR1_ENST00000508312.1_Missense_Mutation_p.R348G|DDR1_ENST00000376567.2_Missense_Mutation_p.R330G|DDR1_ENST00000361741.4_Missense_Mutation_p.R61G|DDR1_ENST00000452441.1_Missense_Mutation_p.R330G|DDR1_ENST00000376568.3_Missense_Mutation_p.R330G|DDR1_ENST00000454612.2_Missense_Mutation_p.R330G|DDR1_ENST00000376575.3_Missense_Mutation_p.R330G|DDR1_ENST00000376569.3_Missense_Mutation_p.R330G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	330					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R330G(2)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGGGACCCCAGAGCCCGGGC	0.677000													37	79					0	0	0.014410	0	0
ZNF610	162963	broad.mit.edu	37	19	52856949	52856949	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:52856949C>T	ENST00000601151.1	+	4	530	c.78C>T	c.(76-78)ttC>ttT	p.F26F	ZNF610_ENST00000327920.8_Silent_p.F26F|ZNF610_ENST00000321287.8_Silent_p.F26F|ZNF610_ENST00000403906.3_Silent_p.F26F	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F26F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GCTTGACATTCATGGACGTGG	0.413000													17	60					0	0	0.007413	0	0
CAD	790	broad.mit.edu	37	2	27440873	27440873	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:27440873G>C	ENST00000264705.4	+	2	373	c.211G>C	c.(211-213)Ggt>Cgt	p.G71R	CAD_ENST00000403525.1_Missense_Mutation_p.G71R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	71	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.G71R(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGATGAGTTCGGTCTCTGCAA	0.498000													30	78					0	0	0.013726	0	0
MYH7	4625	broad.mit.edu	37	14	23894913	23894913	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:23894913G>A	ENST00000355349.3	-	20	2439	c.2277C>T	c.(2275-2277)ggC>ggT	p.G759G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	759	Actin-binding.|Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G759G(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGTGTGGCCAAACTTGT	0.463000													4	208					0	0	0.001168	0	0
RPL3	6122	broad.mit.edu	37	22	39710735	39710735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:39710735C>A	ENST00000216146.4	-	6	978	c.805G>T	c.(805-807)Gct>Tct	p.A269S	RPL3_ENST00000401609.1_Missense_Mutation_p.A217S|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	269					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.A269S(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TTCTGCCCAGCGCGTGCCACA	0.622000													38	45					6.29468e-14	7.58877e-14	0.004878	1	0
GPR112	139378	broad.mit.edu	37	X	135439865	135439865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:135439865G>T	ENST00000394143.1	+	10	7221	c.6930G>T	c.(6928-6930)ttG>ttT	p.L2310F	GPR112_ENST00000412101.1_Missense_Mutation_p.L2105F|GPR112_ENST00000394141.1_Missense_Mutation_p.L2105F|GPR112_ENST00000370652.1_Missense_Mutation_p.L2310F|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L2310F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCATTAGTTGGAACAGAGAG	0.328000													32	44					2.2871e-25	3.19521e-25	0.007835	1	0
UBR4	23352	broad.mit.edu	37	1	19505708	19505708	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:19505708G>C	ENST00000375267.2	-	18	2194	c.2191C>G	c.(2191-2193)Ctg>Gtg	p.L731V	UBR4_ENST00000375226.2_Missense_Mutation_p.L731V|UBR4_ENST00000375254.3_Missense_Mutation_p.L731V|UBR4_ENST00000375217.2_Missense_Mutation_p.L731V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	731					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L731V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTGCAACAGTGTGTTCTGA	0.448000													11	31					0	0	0.003163	0	0
TNXB	7148	broad.mit.edu	37	6	32018012	32018012	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:32018012C>A	ENST00000375244.3	-	27	9403	c.9202G>T	c.(9202-9204)Gtg>Ttg	p.V3068L	TNXB_ENST00000375247.2_Missense_Mutation_p.V3066L			P22105	TENX_HUMAN	tenascin XB	3113	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V3068L(1)|p.V3133L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCATCTGTCACGGTCAGCTCC	0.627000													33	167					1.08052e-11	1.24878e-11	0.004289	1	0
SPTA1	6708	broad.mit.edu	37	1	158596791	158596791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:158596791G>A	ENST00000368148.3	-	41	5851	c.5671C>T	c.(5671-5673)Cag>Tag	p.Q1891*	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Intron	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1891				Q -> H (in Ref. 1; AAA60577/AAA60994).	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.Q1891*(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)					CTTTCCTCCTGCAACACCTGT	0.418000													21	59					0	0	0.003330	0	0
OR2A25	392138	broad.mit.edu	37	7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:143771552G>A	ENST00000408898.2	+	1	278	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M80I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547000													35	84					0	0	0.006999	0	0
CEACAM1	634	broad.mit.edu	37	19	43026327	43026327	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:43026327C>A	ENST00000161559.6	-	3	586	c.452G>T	c.(451-453)aGc>aTc	p.S151I	CEACAM1_ENST00000403444.3_Missense_Mutation_p.S151I|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Missense_Mutation_p.S111I|CEACAM1_ENST00000403461.1_Missense_Mutation_p.S151I|CEACAM1_ENST00000358394.3_Missense_Mutation_p.S151I|CEACAM1_ENST00000599389.1_Missense_Mutation_p.S151I|CEACAM1_ENST00000352591.5_Missense_Mutation_p.S151I	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	151	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		p.S151I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGAGTTGTTGCTGGAGATGGA	0.507000													54	350					3.53049e-34	5.22424e-34	0.014410	1	0
MCCC2	64087	broad.mit.edu	37	5	70931014	70931014	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:70931014G>T	ENST00000340941.6	+	10	1069	c.940G>T	c.(940-942)Gct>Tct	p.A314S	MCCC2_ENST00000509358.2_Missense_Mutation_p.A314S|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.A276S	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	314	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	p.A314S(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTTATTTCCTGCTGATGAATT	0.403000													11	59					1.49906e-05	1.59296e-05	0.002450	1	0
ATP11A	23250	broad.mit.edu	37	13	113510353	113510353	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:113510353G>T	ENST00000487903.1	+	20	2460	c.2372G>T	c.(2371-2373)tGc>tTc	p.C791F	ATP11A_ENST00000375645.3_Missense_Mutation_p.C791F|ATP11A_ENST00000375630.2_Missense_Mutation_p.C791F|ATP11A_ENST00000283558.8_Missense_Mutation_p.C791F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	791					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.C791F(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCCGGAGCTGCAGCGCGGTG	0.587000													81	105					2.17451e-35	3.23791e-35	0.014410	1	0
YLPM1	56252	broad.mit.edu	37	14	75248655	75248655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:75248655G>T	ENST00000325680.7	+	4	2033	c.1909G>T	c.(1909-1911)Gga>Tga	p.G637*	YLPM1_ENST00000552421.1_Nonsense_Mutation_p.G637*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.G442*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.G637*(1)|p.G442*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTCCCCCTGGAGTTCCACA	0.552000													17	61					1.45105e-14	1.76731e-14	0.006122	1	0
PER1	5187	broad.mit.edu	37	17	8048275	8048275	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:8048275G>C	ENST00000317276.4	-	18	2492	c.2255C>G	c.(2254-2256)cCa>cGa	p.P752R	PER1_ENST00000354903.5_Missense_Mutation_p.P736R|PER1_ENST00000578089.1_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.P732R	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	752	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.P752R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ggctgggcctggggctaggCC	0.632000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					16	16					0	0	0.002780	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373286	86373286	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:86373286C>A	ENST00000604798.1	-	8	2422	c.1218G>T	c.(1216-1218)ttG>ttT	p.L406F	MGAT4C_ENST00000548651.1_Missense_Mutation_p.L406F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L435F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L406F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L406F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L406F			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	406					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.L406F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCATGATGCAAAATATCAT	0.323000													7	18					0.000442599	0.000464094	0.006214	1	0
KIF18B	146909	broad.mit.edu	37	17	43005458	43005458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:43005458C>A	ENST00000587309.1	-	13	2271	c.2248G>T	c.(2248-2250)Gaa>Taa	p.E750*	KIF18B_ENST00000339151.4_Nonsense_Mutation_p.E741*|KIF18B_ENST00000438933.2_Nonsense_Mutation_p.E750*|KIF18B_ENST00000590129.1_Nonsense_Mutation_p.E759*|KIF18B_ENST00000593135.1_Nonsense_Mutation_p.E738*	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.E750*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCAATGCATTCATGGAAACTG	0.602000													7	66					6.40141e-05	6.78721e-05	0.010729	1	0
OTOF	9381	broad.mit.edu	37	2	26707430	26707430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:26707430C>A	ENST00000272371.2	-	12	1243	c.1117G>T	c.(1117-1119)Gtg>Ttg	p.V373L	OTOF_ENST00000403946.3_Missense_Mutation_p.V373L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	373					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V373L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACACTTCACGTAGCCCTTC	0.592000													49	32					7.77372e-23	1.0672e-22	0.014410	1	0
HSFY1P1	27437	broad.mit.edu	37	22	17308477	17308477	+	RNA	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:17308477C>T	ENST00000425038.1	+	0	114					NR_003607.1																						AGATGTTTCTCCTAAAGATGA	0.408000													4	14					0	0	0.001168	0	0
CAMK2B	816	broad.mit.edu	37	7	44323760	44323760	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:44323760T>C	ENST00000395749.2	-	2	206	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	CAMK2B_ENST00000358707.3_Missense_Mutation_p.I44V|CAMK2B_ENST00000258682.6_Missense_Mutation_p.I44V|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I44V|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I44V|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I44V|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I44V|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I44V|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I44V|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I44V	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	44	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.I44V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTTGATGATCTTGGCTGCA	0.612000													13	78					0	0	0.013537	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809215	18809215	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:18809215G>T	ENST00000400664.1	+	1	1792	c.1740G>T	c.(1738-1740)ccG>ccT	p.P580P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	580						integral to membrane		p.P580P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCCGGCCGCACTGCCGGC	0.706000													4	12					0.00621372	0.00644436	0.006214	1	0
CD8B	926	broad.mit.edu	37	2	87073827	87073827	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:87073827C>A	ENST00000390655.6	-	4	621	c.563G>T	c.(562-564)gGa>gTa	p.G188V	CD8B_ENST00000349455.3_Intron|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.G188V|CD8B_ENST00000331469.2_Missense_Mutation_p.G188V	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	188					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.G188V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATGGCCACTCCCAGGGAAAC	0.542000													16	6					1.28384e-07	1.41163e-07	0.012319	1	0
LRP5L	91355	broad.mit.edu	37	22	25755958	25755958	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:25755958G>A	ENST00000444995.3	-	4	802	c.102C>T	c.(100-102)aaC>aaT	p.N34N	LRP5L_ENST00000402785.2_Silent_p.N34N|LRP5L_ENST00000402859.2_Silent_p.N34N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	34								p.N34N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CATCGGGGTCGTTGATCTTGG	0.607000													19	89					0	0	0.014323	0	0
AGAP2	116986	broad.mit.edu	37	12	58131021	58131021	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:58131021C>G	ENST00000547588.1	-	1	1008	c.1009G>C	c.(1009-1011)Gca>Cca	p.A337P	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	337	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.A337P(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGAGTGGATGCTCGGCCCCCC	0.682000													6	22					0	0	0.004482	0	0
KRT5	3852	broad.mit.edu	37	12	52910540	52910540	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:52910540C>T	ENST00000252242.4	-	7	1710	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	440	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.Q440Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTTGGCCTTCTGCAGGGCCT	0.642000													42	244					0	0	0.014410	0	0
COL6A1	1291	broad.mit.edu	37	21	47412102	47412102	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr21:47412102C>T	ENST00000361866.3	+	17	1321	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	403	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.P403S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCTGGGCCCCCCGGAGAGAA	0.647000													52	40					0	0	0.014410	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069916	161069916	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:161069916C>T	ENST00000368011.4	+	4	1094	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	318								p.R318C(1)		lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATGGGCCATCGCACCTGCCT	0.527000													77	377					0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20782645	20782645	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:20782645G>C	ENST00000404938.2	+	25	3822	c.3170G>C	c.(3169-3171)aGc>aCc	p.S1057T	ABCB5_ENST00000258738.6_Missense_Mutation_p.S612T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	612					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S1057T(1)|p.S612T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTGGGAAAAGCACTTCTGTT	0.488000													24	48					0	0	0.003330	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665960	19665960	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:19665960G>A	ENST00000328041.6	+	12	1476	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	427	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D427N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ggaagaggaggacgaggatga	0.522000													104	68					0	0	0.014410	0	0
FAN1	22909	broad.mit.edu	37	15	31222754	31222754	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:31222754C>T	ENST00000362065.4	+	13	3087	c.2796C>T	c.(2794-2796)gtC>gtT	p.V932V	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	932	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.V932V(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGGATCTTGTCTCCTGCCTGG	0.577000								Direct reversal of damage					25	113					0	0	0.005443	0	0
SPTBN4	57731	broad.mit.edu	37	19	41019339	41019339	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:41019339C>T	ENST00000352632.3	+	14	2729	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	SPTBN4_ENST00000338932.3_Silent_p.L881L|SPTBN4_ENST00000598249.1_Silent_p.L881L|SPTBN4_ENST00000595535.1_Silent_p.L881L|SPTBN4_ENST00000344104.3_Silent_p.L881L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	881					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L881L(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGACGCGCTCGCTGTCTACC	0.652000													20	11					0	0	0.010504	0	0
OR4C11	219429	broad.mit.edu	37	11	55371295	55371295	+	Silent	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:55371295A>T	ENST00000302231.4	-	1	579	c.555T>A	c.(553-555)ctT>ctA	p.L185L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCATGCAGGCAAGTTTCAACA	0.398000													23	11					0	0	0.003330	0	0
TMEM168	64418	broad.mit.edu	37	7	112407532	112407532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:112407532C>A	ENST00000312814.5	-	5	2374	c.1814G>T	c.(1813-1815)tGg>tTg	p.W605L	TMEM168_ENST00000454074.1_Missense_Mutation_p.W605L	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	605						integral to membrane|transport vesicle		p.W605L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CTTTTCAGTCCAGCAGATGTT	0.453000													12	38					1.61879e-10	1.85731e-10	0.013537	1	0
PCNX	22990	broad.mit.edu	37	14	71542904	71542904	+	Splice_Site	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:71542904A>T	ENST00000304743.2	+	28	5552		c.e28-1		PCNX_ENST00000238570.5_Splice_Site|PCNX_ENST00000439984.3_Splice_Site	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)							integral to membrane		p.?(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTTCATGTTAGGGTATCATT	0.313000													28	52					0	0	0.004289	0	0
CADM2	253559	broad.mit.edu	37	3	86114787	86114787	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:86114787G>C	ENST00000383699.3	+	9	1630	c.1003G>C	c.(1003-1005)Gac>Cac	p.D335H	CADM2_ENST00000405615.2_Missense_Mutation_p.D368H|CADM2_ENST00000407528.2_Missense_Mutation_p.D366H	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	366	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.D335H(1)|p.D368H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAATGGCCCTGACCATGCTCT	0.403000													9	28					0	0	0.006214	0	0
GLI3	2737	broad.mit.edu	37	7	42006017	42006017	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:42006017C>A	ENST00000395925.3	-	15	2738	c.2654G>T	c.(2653-2655)cGg>cTg	p.R885L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	885					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R885L(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTTCTGCGGCCGGCCCTCGGC	0.716000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				20	32					2.61193e-14	3.16497e-14	0.009535	1	0
SUSD4	55061	broad.mit.edu	37	1	223396808	223396808	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:223396808C>G	ENST00000343846.3	-	7	1860	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.Q249H|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q409H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	409						integral to membrane		p.Q409H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTGGGGGGCTCTGGTCGTCCA	0.642000													18	45					0	0	0.007413	0	0
LAMB2	3913	broad.mit.edu	37	3	49160160	49160160	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:49160160T>G	ENST00000418109.1	-	28	4714	c.4550A>C	c.(4549-4551)cAg>cCg	p.Q1517P	LAMB2_ENST00000305544.4_Missense_Mutation_p.Q1517P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1517	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.Q1517P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCACACTCTGGATAAGTTC	0.582000													62	217					0	0	0.014410	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364216	47364216	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:47364216T>C	ENST00000545968.1	-	17	1591	c.1537A>G	c.(1537-1539)Atc>Gtc	p.I513V	MYBPC3_ENST00000256993.4_Missense_Mutation_p.I512V|MYBPC3_ENST00000399249.2_Missense_Mutation_p.I513V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	512	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.I513V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCGTTGATGATCAGGTGGTGT	0.642000													142	93					0	0	0.014410	0	0
RNF165	494470	broad.mit.edu	37	18	44036010	44036010	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:44036010G>T	ENST00000269439.7	+	7	941	c.890G>T	c.(889-891)tGt>tTt	p.C297F	RNF165_ENST00000543885.1_Missense_Mutation_p.C105F	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	297							zinc ion binding	p.C297F(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TGCACAATTTGTCTGTCTATG	0.493000													17	8					1.33834e-09	1.51e-09	0.007413	1	0
UBIAD1	29914	broad.mit.edu	37	1	11345877	11345877	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:11345877G>A	ENST00000376810.5	+	2	1032	c.706G>A	c.(706-708)Gac>Aac	p.D236N	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	236			D -> E (in SCCD).		menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	p.D236N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CAACACCAGGGACATGGAGTC	0.602000													40	122					0	0	0.010771	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319226	67319226	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:67319226G>T	ENST00000360461.5	+	13	4764	c.2229G>T	c.(2227-2229)acG>acT	p.T743T	PLEKHG4_ENST00000450733.1_Silent_p.T662T|PLEKHG4_ENST00000427155.2_Silent_p.T743T|PLEKHG4_ENST00000379344.3_Silent_p.T743T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	743	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.T743T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGTGGCCACGGAGCGGGAGT	0.627000													53	112					8.44121e-28	1.21135e-27	0.014410	1	0
ZYG11B	79699	broad.mit.edu	37	1	53245579	53245579	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:53245579G>C	ENST00000294353.6	+	4	1151	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	ZYG11B_ENST00000443756.2_Missense_Mutation_p.E336Q|ZYG11B_ENST00000545132.1_Missense_Mutation_p.E336Q	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	336							protein binding	p.E336Q(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GCGTTACAGTGAACGGGCATT	0.383000													53	151					0	0	0.014410	0	0
SCG3	29106	broad.mit.edu	37	15	52011673	52011673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:52011673C>A	ENST00000220478.3	+	12	1760	c.1357C>A	c.(1357-1359)Ctt>Att	p.L453I	SCG3_ENST00000542355.2_Missense_Mutation_p.L221I	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	453					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.L453I(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAAGGCATCCTTGACAAGGA	0.373000													23	34					3.01185e-09	3.3821e-09	0.003954	1	0
TLR4	7099	broad.mit.edu	37	9	120476467	120476467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:120476467G>A	ENST00000355622.6	+	3	2162	c.2061G>A	c.(2059-2061)tgG>tgA	p.W687*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.W647*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	687	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.W687*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATGAGGACTGGGTAAGGAATG	0.448000													27	33					0	0	0.006320	0	0
BRF1	2972	broad.mit.edu	37	14	105685542	105685542	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:105685542C>A	ENST00000546474.1	-	13	16364	c.1405G>T	c.(1405-1407)Gtg>Ttg	p.V469L	BRF1_ENST00000392557.4_Missense_Mutation_p.V265L|BRF1_ENST00000379937.2_Missense_Mutation_p.V442L|BRF1_ENST00000440513.3_Missense_Mutation_p.V376L|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.V354L|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000446501.2_Missense_Mutation_p.V231L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	469					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.V469L(1)|p.V469M(1)|p.V376L(1)|p.V376M(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCGGCCTTCACGCGGGCTTCC	0.642000													35	141					1.57019e-19	2.04902e-19	0.007835	1	0
PTGDR2	11251	broad.mit.edu	37	11	60620811	60620811	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:60620811G>A	ENST00000332539.4	-	2	496	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	129					immune response	integral to plasma membrane	N-formyl peptide receptor activity	p.R129C(1)									TGCAGGCAGCGGTCCAGGCTG	0.642000													7	13					0	0	0.003163	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406292	148406292	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:148406292G>A	ENST00000538184.1	-	8	2425	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	SH3TC2_ENST00000394358.2_Silent_p.P886P|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L959F|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L966F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	966							binding	p.L966F(1)|p.P886P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGCAGAGGGATTTGGTG	0.502000													157	227					0	0	0.014410	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25334902	25334902	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:25334902C>A	ENST00000302874.4	+	4	451	c.427C>A	c.(427-429)Cat>Aat	p.H143N	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	143							methyltransferase activity|nucleic acid binding|zinc ion binding	p.H143N(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ACATAGTGAGCATCAGGTTCT	0.433000													21	37					1.96292e-10	2.23059e-10	0.010504	1	0
TRPC4	7223	broad.mit.edu	37	13	38266167	38266167	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:38266167G>T	ENST00000379705.3	-	4	2060	c.1203C>A	c.(1201-1203)atC>atA	p.I401I	TRPC4_ENST00000379681.3_Silent_p.I401I|TRPC4_ENST00000338947.5_Silent_p.I228I|TRPC4_ENST00000358477.2_Silent_p.I401I|TRPC4_ENST00000355779.2_Silent_p.I401I|TRPC4_ENST00000379679.1_Silent_p.I228I|TRPC4_ENST00000379673.2_Silent_p.I401I|TRPC4_ENST00000426868.2_Silent_p.I401I|TRPC4_ENST00000447043.1_Silent_p.I401I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	401					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.I401I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCACTCGACGATGGTTGGTG	0.448000													28	23					4.11147e-13	4.88238e-13	0.003755	1	0
SLC35A5	55032	broad.mit.edu	37	3	112299982	112299982	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:112299982A>G	ENST00000492406.1	+	6	1301	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	340						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	p.T340A(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCAGGTTACCACTGTCATTAT	0.438000													12	52					0	0	0.010729	0	0
ADNP2	22850	broad.mit.edu	37	18	77894782	77894782	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:77894782C>T	ENST00000262198.4	+	4	1941	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	496					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R496W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGCTCCGTCACGGGTTCTTCC	0.597000													37	92					0	0	0.007835	0	0
N4BP2	55728	broad.mit.edu	37	4	40127837	40127837	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:40127837T>G	ENST00000261435.6	+	12	4830	c.4414T>G	c.(4414-4416)Tta>Gta	p.L1472V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1472						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.L1472V(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTGAAGACTTTAACAGCATC	0.343000													25	150					0	0	0.003954	0	0
BIRC8	112401	broad.mit.edu	37	19	53792981	53792981	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:53792981G>T	ENST00000426466.1	-	1	1894	c.647C>A	c.(646-648)gCa>gAa	p.A216E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	216					apoptosis		zinc ion binding	p.A216E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTGTCAACTGCTTCAGCACA	0.403000													56	194					9.16383e-17	1.15459e-16	0.014410	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861719	67861719	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:67861719G>C	ENST00000262345.1	+	16	3176	c.2536G>C	c.(2536-2538)Gat>Cat	p.D846H	IL12RB2_ENST00000544434.1_Missense_Mutation_p.D760H|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	846					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.D846H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCTGTGGTGATAAGCTGAC	0.517000													177	541					0	0	0.014410	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242442	87242442	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:87242442A>G	ENST00000297524.3	-	1	168	c.65T>C	c.(64-66)tTg>tCg	p.L22S	SLC7A13_ENST00000419776.2_Missense_Mutation_p.L22S|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	22						integral to membrane	amino acid transmembrane transporter activity	p.L22S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAAGCAAAAAACTTGT	0.408000													26	82					0	0	0.009535	0	0
EMR2	30817	broad.mit.edu	37	19	14866492	14866492	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:14866492G>A	ENST00000315576.3	-	13	1841	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	EMR2_ENST00000596991.2_Missense_Mutation_p.P453S|EMR2_ENST00000392965.3_Missense_Mutation_p.P464S|EMR2_ENST00000353005.1_Missense_Mutation_p.P322S|EMR2_ENST00000595839.1_Missense_Mutation_p.P322S|EMR2_ENST00000594076.1_Missense_Mutation_p.P371S|EMR2_ENST00000353876.1_Missense_Mutation_p.P371S|EMR2_ENST00000601345.1_Missense_Mutation_p.P453S|EMR2_ENST00000594294.1_Missense_Mutation_p.P415S|EMR2_ENST00000346057.1_Missense_Mutation_p.P415S|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.P453S	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	464					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P464S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AAGGTAACTGGGGAGCTGAGG	0.572000													51	214					0	0	0.014410	0	0
NDUFA9	4704	broad.mit.edu	37	12	4791405	4791405	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:4791405T>C	ENST00000266544.5	+	9	855	c.835T>C	c.(835-837)Tac>Cac	p.Y279H	RP11-234B24.6_ENST00000544741.2_Missense_Mutation_p.Y38H	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.Y279H(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCTGGTGAAGTACATCTTTGC	0.423000													25	82					0	0	0.008361	0	0
TOM1	10043	broad.mit.edu	37	22	35743195	35743195	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:35743195C>T	ENST00000411850.1	+	15	1600	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	TOM1_ENST00000425375.1_Missense_Mutation_p.A446V|TOM1_ENST00000449058.2_Missense_Mutation_p.A491V|TOM1_ENST00000436462.2_Missense_Mutation_p.A453V|TOM1_ENST00000447733.1_Missense_Mutation_p.A459V|TOM1_ENST00000382034.5_3'UTR	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	491					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	p.A491V(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						ATGCTGTTTGCCTTATGAGTG	0.632000													64	70					0	0	0.014410	0	0
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:98251438G>T	ENST00000284311.3	+	1	696	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473000													29	93					1.39806e-14	1.70714e-14	0.008361	1	0
C20orf96	140680	broad.mit.edu	37	20	257517	257517	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:257517T>A	ENST00000360321.2	-	9	967	c.829A>T	c.(829-831)Acc>Tcc	p.T277S	C20orf96_ENST00000400269.3_Missense_Mutation_p.T219S|C20orf96_ENST00000382369.5_Missense_Mutation_p.T242S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	277								p.T277S(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACGCTGGGTTTCCTGTGGA	0.577000													37	28					0	0	0.006230	0	0
CST9	128822	broad.mit.edu	37	20	23584184	23584184	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:23584184G>T	ENST00000376971.3	-	2	454	c.443C>A	c.(442-444)gCa>gAa	p.A148E		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	148						extracellular region	cysteine-type endopeptidase inhibitor activity	p.A148E(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TTTGTCAGCTGCTCCTGTGCC	0.567000													90	42					1.53041e-28	2.20956e-28	0.014410	1	0
SPDYE3	441272	broad.mit.edu	37	7	99905599	99905599	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:99905599G>A	ENST00000332397.6	+	1	275	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	31								p.V31M(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGATGATGAAGTGTCGGGACC	0.602000													8	11					0	0	0.004482	0	0
TBXAS1	6916	broad.mit.edu	37	7	139611091	139611091	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:139611091G>A	ENST00000263552.6	+	8	845	c.307G>A	c.(307-309)Gag>Aag	p.E103K	TBXAS1_ENST00000416849.2_Missense_Mutation_p.E103K|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E102K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E102K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E103K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E102K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E103K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E35K|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E102K|TBXAS1_ENST00000455353.1_Missense_Mutation_p.E102K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000539806.1_Missense_Mutation_p.E103K	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	102					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.E103K(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GGTGTTGGTTGAGAACTTCAG	0.398000													44	267					0	0	0.014410	0	0
C7orf10	79783	broad.mit.edu	37	7	40900032	40900032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:40900032G>T	ENST00000309930.5	+	15	1394	c.1370G>T	c.(1369-1371)gGg>gTg	p.G457V	C7orf10_ENST00000401647.2_Missense_Mutation_p.G383V|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Missense_Mutation_p.G431V	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	431							transferase activity	p.G457V(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGGCCATCGGGGAGCTGCTC	0.562000													64	159					1.1362e-29	1.6555e-29	0.014410	1	0
NOM1	64434	broad.mit.edu	37	7	156742967	156742967	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:156742967A>G	ENST00000275820.3	+	1	551	c.536A>G	c.(535-537)aAc>aGc	p.N179S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	179	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.N179S(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTAGCGGCGAACGAGGAGGAG	0.657000													66	201					0	0	0.014410	0	0
SETD1A	9739	broad.mit.edu	37	16	30974845	30974845	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:30974845G>T	ENST00000262519.8	+	5	1295	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.K203N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGAGTGAGAAGTTCCAAGGCT	0.572000													50	59					1.51943e-15	1.8795e-15	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	9056608	9056608	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:9056608G>C	ENST00000397910.4	-	3	31041	c.30838C>G	c.(30838-30840)Cct>Gct	p.P10280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10282	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5913A(1)|p.P10280A(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						GATAGAGAAGGCATCACTGTG	0.488000													40	43					0	0	0.014410	0	0
KIF19	124602	broad.mit.edu	37	17	72345451	72345451	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:72345451G>T	ENST00000389916.4	+	10	1314	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	392					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G393C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCCAGGCCCGGGGCCGGCAGG	0.662000													55	42					2.05175e-36	3.09391e-36	0.014410	1	0
TBX5	6910	broad.mit.edu	37	12	114837405	114837405	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:114837405G>T	ENST00000310346.4	-	4	941	c.275C>A	c.(274-276)aCg>aAg	p.T92K	TBX5_ENST00000526441.1_Missense_Mutation_p.T92K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.T92K|TBX5_ENST00000349716.5_Missense_Mutation_p.T42K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	92					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T92K(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATTAAGGCCCGTCACCTTCAC	0.488000													61	240					3.84483e-29	5.585e-29	0.014410	1	0
HEPHL1	341208	broad.mit.edu	37	11	93778921	93778921	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:93778921G>C	ENST00000315765.9	+	2	261	c.253G>C	c.(253-255)Gga>Cga	p.G85R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	85	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.G85R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTCACGGATGGAACCTACTC	0.453000													3	16					0	0	0.000602	0	0
HRNR	388697	broad.mit.edu	37	1	152192787	152192787	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:152192787C>A	ENST00000368801.2	-	3	1393	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	440					keratinization		calcium ion binding|protein binding	p.G440C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGGAGCTGGGA	0.612000													52	111					4.88482e-21	6.53603e-21	0.014410	1	0
PRKACB	5567	broad.mit.edu	37	1	84610229	84610229	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:84610229C>G	ENST00000370685.3	+	1	276	c.185C>G	c.(184-186)tCa>tGa	p.S62*	PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000370688.3_Intron	NM_001242862.1|NM_182948.2	NP_001229791.1|NP_891993.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	15	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	p.S62*(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGGGACAGATCAAGTAAGTTT	0.323000													9	59					0	0	0.010729	0	0
NLRP5	126206	broad.mit.edu	37	19	56565064	56565064	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:56565064G>A	ENST00000390649.3	+	13	3189	c.3189G>A	c.(3187-3189)agG>agA	p.R1063R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1063						mitochondrion|nucleolus	ATP binding	p.R1063R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGATCTCGAGGAGCAGACACC	0.572000													21	63					0	0	0.010504	0	0
PRR12	57479	broad.mit.edu	37	19	50102993	50102993	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:50102993C>T	ENST00000418929.2	+	5	4155	c.4143C>T	c.(4141-4143)tcC>tcT	p.S1381S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	560							DNA binding	p.S561S(1)|p.S1381S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCCTTCTCCTCGGATGAGG	0.617000													32	99					0	0	0.003755	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	101					0	0	0.004672	0	0
MKI67	4288	broad.mit.edu	37	10	129902310	129902310	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:129902310C>A	ENST00000368654.3	-	13	8169	c.7794G>T	c.(7792-7794)acG>acT	p.T2598T	MKI67_ENST00000368653.3_Silent_p.T2238T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.T2598T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTTGTGCTCGTGGCAGTGT	0.483000													95	198					7.82945e-61	1.24798e-60	0.014410	1	0
SLC6A15	55117	broad.mit.edu	37	12	85255532	85255532	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:85255532C>G	ENST00000266682.5	-	12	2613	c.2072G>C	c.(2071-2073)gGt>gCt	p.G691A	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.G584A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	691					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G691A(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATATTTTTACCAAAATTTGG	0.443000													15	62					0	0	0.006122	0	0
USP24	23358	broad.mit.edu	37	1	55598341	55598341	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:55598341G>A	ENST00000294383.6	-	31	3413	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	USP24_ENST00000407756.1_Silent_p.S978S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1138	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S1055S(1)|p.S1138S(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAGATTTTGAGGACTGAGAAC	0.383000													5	10					0	0	0.001168	0	0
FMO1	2326	broad.mit.edu	37	1	171250010	171250010	+	Missense_Mutation	SNP	G	G	C	rs141233517		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:171250010G>C	ENST00000354841.4	+	5	844	c.713G>C	c.(712-714)cGc>cCc	p.R238P	FMO1_ENST00000402921.2_Missense_Mutation_p.R175P|FMO1_ENST00000367750.3_Missense_Mutation_p.R238P|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	238					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R238P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCATGACACGCTTTCAGAAC	0.488000													35	44					0	0	0.006230	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158014043	158014043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:158014043G>T	ENST00000359775.5	+	3	1319	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.G144W|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	144						integral to membrane	acyltransferase activity|zinc ion binding	p.G144W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CACCAGTTCAGGGGGGTACCG	0.567000													44	92					7.34454e-26	1.0291e-25	0.014410	1	0
FAM153B	202134	broad.mit.edu	37	5	175530280	175530280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:175530280G>T	ENST00000253490.4	+	13	772	c.715G>T	c.(715-717)Gag>Tag	p.E239*	FAM153B_ENST00000510151.1_Nonsense_Mutation_p.E162*|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.E162*|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	239								p.E239*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CGGCGAGGAGGAGGACCCAGA	0.448000													36	385					1.96642e-18	2.52446e-18	0.006999	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102537262	102537262	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:102537262C>T	ENST00000321521.9	+	30	4169	c.3596C>T	c.(3595-3597)tCa>tTa	p.S1199L	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1220L|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1199L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1220					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.S1199L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTAATACCTCATCTCGGAAA	0.313000													5	12					0	0	0.001168	0	0
ELTD1	64123	broad.mit.edu	37	1	79358799	79358799	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:79358799A>C	ENST00000370742.3	-	13	1888	c.1825T>G	c.(1825-1827)Tgc>Ggc	p.C609G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	609					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.C609G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTCAAAGCAACTAACTTCT	0.308000													2	10					0	0	0.004672	0	0
DKK2	27123	broad.mit.edu	37	4	107956632	107956632	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:107956632C>A	ENST00000285311.3	-	1	822	c.117G>T	c.(115-117)aaG>aaT	p.K39N	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	39					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.K39N(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)		CCAGAGAGGACTTGATGGAGT	0.612000													55	131					9.68594e-22	1.31078e-21	0.014410	1	0
CRNN	49860	broad.mit.edu	37	1	152382438	152382438	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:152382438G>T	ENST00000271835.3	-	3	1182	c.1120C>A	c.(1120-1122)Cag>Aag	p.Q374K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	374	Gln-rich.		Q -> H (in dbSNP:rs6695830).		cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.Q374K(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCCTGTTCTCTAGCC	0.592000													51	308					3.07661e-12	3.59948e-12	0.014410	1	0
UNC5D	137970	broad.mit.edu	37	8	35406908	35406908	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:35406908A>T	ENST00000287272.2	+	2	222	c.202A>T	c.(202-204)Agc>Tgc	p.S68C	UNC5D_ENST00000404895.2_Missense_Mutation_p.S68C|UNC5D_ENST00000420357.1_Missense_Mutation_p.S68C|UNC5D_ENST00000416672.1_Missense_Mutation_p.S68C|UNC5D_ENST00000453357.2_Missense_Mutation_p.S63C			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	68	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity	p.S63C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATTATCAAGAGCAACCCTAT	0.507000													18	27					0	0	0.006122	0	0
RXFP1	59350	broad.mit.edu	37	4	159567946	159567946	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:159567946C>A	ENST00000307765.5	+	16	1600	c.1349C>A	c.(1348-1350)gCc>gAc	p.A450D	RXFP1_ENST00000460056.2_Missense_Mutation_p.A369D|RXFP1_ENST00000470033.1_Missense_Mutation_p.A417D|RXFP1_ENST00000448688.2_Missense_Mutation_p.A345D|RXFP1_ENST00000343542.5_Missense_Mutation_p.A402D	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	450						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CCTCTAGGTGCCGACTGCTTA	0.343000													25	110					6.12954e-19	7.93332e-19	0.004656	1	0
ZSCAN32	54925	broad.mit.edu	37	16	3434572	3434572	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:3434572G>T	ENST00000396852.4	-	6	1428	c.1121C>A	c.(1120-1122)aCg>aAg	p.T374K	LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.T85K|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.T162K|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.T162K|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.T374K|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.T374K|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.T85K					zinc finger and SCAN domain containing 32									p.T162K(1)									TTCTACCTCCGTGGGTTCCCC	0.542000													46	191					1.0096e-33	1.48932e-33	0.014410	1	0
TEP1	7011	broad.mit.edu	37	14	20850850	20850850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:20850850C>A	ENST00000262715.5	-	28	4112	c.4072G>T	c.(4072-4074)Gaa>Taa	p.E1358*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E1250*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1358	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.E1358*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGCCTGATTCCCGCTTCACC	0.622000													30	113					2.42023e-17	3.05747e-17	0.003271	1	0
TRIM4	89122	broad.mit.edu	37	7	99490024	99490024	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:99490024C>A	ENST00000355947.2	-	7	1394	c.1265G>T	c.(1264-1266)aGt>aTt	p.S422I	TRIM4_ENST00000349062.2_Missense_Mutation_p.S396I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	422	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.S422I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GCCAGCAGCACTCCAATAAAT	0.562000													136	416					1.06387e-37	1.63539e-37	0.014410	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070101	141070101	+	RNA	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:141070101C>T	ENST00000503395.1	+	0	1181																		p.T72I(1)									GAGCCGGGCACCATGGACTCT	0.701000													58	90					0	0	0.014410	0	0
UNC79	57578	broad.mit.edu	37	14	93962756	93962756	+	Splice_Site	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:93962756G>A	ENST00000553484.1	+	6	866		c.e6-1		UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000393151.2_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane		p.?(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTACATTACAGTGTATCATTG	0.279000													5	19					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2830668	2830668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:2830668G>T	ENST00000520002.1	-	58	9452	c.8897C>A	c.(8896-8898)tCa>tAa	p.S2966*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S2907*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S2908*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S2908*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S2965*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S2966*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2966	Sushi 22.					integral to membrane		p.S2694*(1)|p.S2965*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTGACCATGACCCATTGAG	0.522000													23	39					9.04412e-07	9.7414e-07	0.004656	1	0
DDX52	11056	broad.mit.edu	37	17	35993383	35993383	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:35993383C>G	ENST00000349699.2	-	3	395	c.352G>C	c.(352-354)Gac>Cac	p.D118H	DDX52_ENST00000394367.3_Missense_Mutation_p.D10H	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	118						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.D118H(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ACTTTTTTGTCTTCAATCTTT	0.303000													22	158					0	0	0.003330	0	0
USH2A	7399	broad.mit.edu	37	1	215847654	215847654	+	Silent	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:215847654T>C	ENST00000366943.2	-	63	13985	c.13599A>G	c.(13597-13599)tcA>tcG	p.S4533S	USH2A_ENST00000307340.3_Silent_p.S4533S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4533	Fibronectin type-III 31.				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.S4533S(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)		GTTCCATCCCTGAGGGTGCTG	0.512000										HNSCC(13;0.011)			23	152					0	0	0.004656	0	0
CRABP1	1381	broad.mit.edu	37	15	78635905	78635905	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:78635905G>T	ENST00000299529.6	+	3	419	c.314G>T	c.(313-315)gGc>gTc	p.G105V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	105					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	p.G105V(1)		breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	GAAGGGGACGGCCCCAAAACC	0.512000													40	56					4.44401e-20	5.83123e-20	0.010771	1	0
AIM1L	55057	broad.mit.edu	37	1	26663852	26663852	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:26663852C>A	ENST00000527815.1	-	9	1090	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.K176N	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	176	Beta/gamma crystallin 'Greek key' 7.						sugar binding	p.K347N(1)|p.K176N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGAAGCCCTCCTTCTCGTAGC	0.607000													36	118					2.05212e-20	2.7152e-20	0.005524	1	0
KRT72	140807	broad.mit.edu	37	12	52981431	52981431	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:52981431C>G	ENST00000293745.2	-	7	1379	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	KRT72_ENST00000354310.4_Missense_Mutation_p.E390Q|KRT72_ENST00000398066.3_Missense_Mutation_p.E244Q|KRT72_ENST00000537672.2_Missense_Mutation_p.E432Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	432	Coil 2.|Rod.					keratin filament	structural molecule activity	p.E432Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCTCGCTCTCCAGCAGCTTG	0.592000													23	272					0	0	0.005443	0	0
TACC3	10460	broad.mit.edu	37	4	1737014	1737014	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:1737014G>A	ENST00000313288.4	+	7	1712	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	536						centrosome		p.A536T(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCACGGGCGCGGAGGTGGA	0.637000													32	213					0	0	0.007835	0	0
SULF2	55959	broad.mit.edu	37	20	46318884	46318884	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:46318884G>T	ENST00000359930.4	-	5	1574	c.723C>A	c.(721-723)aaC>aaA	p.N241K	SULF2_ENST00000484875.1_Missense_Mutation_p.N241K|SULF2_ENST00000467815.1_Missense_Mutation_p.N241K|SULF2_ENST00000361612.4_Missense_Mutation_p.N241K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	241					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N241K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567000													61	42					1.79293e-35	2.67812e-35	0.014410	1	0
FXYD5	53827	broad.mit.edu	37	19	35660493	35660493	+	Missense_Mutation	SNP	G	G	T	rs141471950		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:35660493G>T	ENST00000342879.3	+	8	1290	c.512G>T	c.(511-513)cGg>cTg	p.R171L	FXYD5_ENST00000423817.3_Missense_Mutation_p.R171L|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000590686.1_Missense_Mutation_p.R171L|FXYD5_ENST00000392217.3_Missense_Mutation_p.R100L|FXYD5_ENST00000588699.1_3'UTR|FXYD5_ENST00000392219.2_Missense_Mutation_p.R171L|FXYD5_ENST00000541435.2_Missense_Mutation_p.R171L			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	171					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	p.R171L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAGCTGTCCCGGTTATGCCGG	0.567000													59	52					1.4051e-37	2.15298e-37	0.014410	1	0
CARD11	84433	broad.mit.edu	37	7	2959040	2959040	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:2959040C>A	ENST00000396946.4	-	18	2879	c.2476G>T	c.(2476-2478)Gac>Tac	p.D826Y		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	826					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D819Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATATCCAGGTCATGGTCTGTG	0.607000			Mis		DLBCL								36	72					3.61848e-18	4.63282e-18	0.007835	1	0
CD300LB	124599	broad.mit.edu	37	17	72522108	72522108	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:72522108C>T	ENST00000392621.1	-	2	264	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.C87Y	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	50	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.C87Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACCCCTCGGCACCACCACTT	0.542000													282	291					0	0	0.014410	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													5	54					0	0	0.002450	0	0
DNAJC3	5611	broad.mit.edu	37	13	96438214	96438214	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:96438214C>T	ENST00000602402.1	+	10	1214	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	DNAJC3_ENST00000376795.6_Missense_Mutation_p.A315V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	366					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	p.D362_Q367delDYETAQ(1)|p.A366V(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TATGAAACTGCTCAGGAACAC	0.308000													10	24					0	0	0.008291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187865	81187865	+	RNA	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:81187865G>T	ENST00000533478.1	-	0	2259				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.R1402R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTGCCCCTCGTCGGTGTCCT	0.537000													10	43					4.36969e-10	4.95371e-10	0.001855	1	0
SENP5	205564	broad.mit.edu	37	3	196612172	196612172	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:196612172G>T	ENST00000323460.5	+	2	369	c.120G>T	c.(118-120)ctG>ctT	p.L40L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.L40L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	40					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	p.L40L(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TGTGCATTCTGAAAGCTAAGC	0.408000													33	91					3.03874e-20	3.99834e-20	0.003271	1	0
OR2L3	391192	broad.mit.edu	37	1	248224140	248224140	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:248224140C>A	ENST00000359959.3	+	1	157	c.157C>A	c.(157-159)Cat>Aat	p.H53N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H53N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTTGGACACCCATCTCCACAC	0.403000													133	227					1.43109e-48	2.25836e-48	0.014410	1	0
NAV2	89797	broad.mit.edu	37	11	20070465	20070465	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:20070465C>T	ENST00000396085.1	+	15	4455	c.4094C>T	c.(4093-4095)tCt>tTt	p.S1365F	NAV2_ENST00000349880.4_Missense_Mutation_p.S1365F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1301F|NAV2_ENST00000396087.3_Missense_Mutation_p.S1388F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1317F|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.S451F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1319F|NAV2_ENST00000533917.1_Missense_Mutation_p.S451F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1388	Ser-rich.					nucleus	ATP binding|helicase activity	p.S1388F(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTCAACCAGTCTCCGCTAGCC	0.617000													27	78					0	0	0.013726	0	0
LARP1	23367	broad.mit.edu	37	5	154191175	154191175	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:154191175G>A	ENST00000336314.4	+	18	2849	c.2825G>A	c.(2824-2826)cGa>cAa	p.R942Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1019							protein binding|RNA binding	p.R1019Q(1)|p.R942Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCAAATTCCGACGTCTTGAA	0.433000													40	165					0	0	0.009718	0	0
ATL2	64225	broad.mit.edu	37	2	38542443	38542443	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:38542443C>T	ENST00000378954.4	-	5	638	c.637G>A	c.(637-639)Gat>Aat	p.D213N	ATL2_ENST00000332337.4_Missense_Mutation_p.D195N|ATL2_ENST00000406122.1_Missense_Mutation_p.D42N|ATL2_ENST00000452935.2_Missense_Mutation_p.D195N|ATL2_ENST00000419554.2_Missense_Mutation_p.D213N|ATL2_ENST00000402054.1_Missense_Mutation_p.D42N|ATL2_ENST00000539122.1_Missense_Mutation_p.D42N|ATL2_ENST00000546051.1_Missense_Mutation_p.D42N	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	213					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.D213N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTTGAAGATCATCTTCTTGA	0.313000													19	55					0	0	0.012319	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997171	19997171	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:19997171A>G	ENST00000391403.2	-	1	707	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	202						integral to membrane		p.W202R(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGTTCTTTCCATACTTCAGCT	0.348000													34	49					0	0	0.013726	0	0
NID1	4811	broad.mit.edu	37	1	236176844	236176844	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:236176844G>T	ENST00000264187.6	-	11	2353	c.2271C>A	c.(2269-2271)cgC>cgA	p.R757R	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	757					cell-matrix adhesion	basement membrane	calcium ion binding	p.R757R(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGTTGATGGGGCGCTGGTCCA	0.542000													33	60					1.22384e-17	1.56269e-17	0.013726	1	0
TEX14	56155	broad.mit.edu	37	17	56679776	56679776	+	Silent	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:56679776C>G	ENST00000389934.3	-	12	1629	c.1512G>C	c.(1510-1512)ctG>ctC	p.L504L	TEX14_ENST00000240361.8_Silent_p.L510L|TEX14_ENST00000349033.5_Silent_p.L504L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	510	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.L504L(1)|p.L510L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTCATTCTTCAGAATATACC	0.418000													34	219					0	0	0.004289	0	0
DOK5	55816	broad.mit.edu	37	20	53205280	53205280	+	Missense_Mutation	SNP	G	G	T	rs148783714	byFrequency	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:53205280G>T	ENST00000262593.5	+	4	694	c.344G>T	c.(343-345)cGg>cTg	p.R115L	DOK5_ENST00000395939.1_Missense_Mutation_p.R7L	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	115							insulin receptor binding	p.R115L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GTAGGAACACGGATCAATGAC	0.453000													63	80					1.25706e-45	1.97064e-45	0.014410	1	0
OR2A12	346525	broad.mit.edu	37	7	143792957	143792957	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:143792957A>G	ENST00000408949.2	+	1	817	c.757A>G	c.(757-759)Agc>Ggc	p.S253G		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S253G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTTCTTTGGCAGCGCCATTGT	0.557000													35	314					0	0	0.006230	0	0
UBXN1	51035	broad.mit.edu	37	11	62444254	62444254	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:62444254C>G	ENST00000294119.2	-	8	1006	c.875G>C	c.(874-876)aGa>aCa	p.R292T	UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	110	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.R292T(1)		endometrium(5)|lung(12)	17						CCCCCAGTTTCTAGTCCTGGT	0.542000													61	193					0	0	0.014410	0	0
E2F1	1869	broad.mit.edu	37	20	32265061	32265061	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:32265061T>C	ENST00000343380.5	-	6	1055	c.916A>G	c.(916-918)Atc>Gtc	p.I306V		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	306	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.I306V(1)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGGGCTGATCCCACCTACG	0.572000													24	163					0	0	0.003954	0	0
TBX3	6926	broad.mit.edu	37	12	115112623	115112623	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:115112623C>T	ENST00000349155.2	-	6	2020	c.1057G>A	c.(1057-1059)Ggt>Agt	p.G353S	TBX3_ENST00000257566.3_Missense_Mutation_p.G373S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	373					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.G373S(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCGCTCTCACCCTCGCTGGGA	0.597000													8	13					0	0	0.008291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81219212	81219212	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:81219212G>T	ENST00000599697.1	-	11	1881	c.1882C>A	c.(1882-1884)Ccg>Acg	p.P628T	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	628	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P628T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAGTCAGGCGGCGGCAGGCAG	0.627000													29	48					7.04047e-22	9.58231e-22	0.005524	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763290	92763290	+	Silent	SNP	T	T	C	rs142212031	byFrequency	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:92763290T>C	ENST00000318238.4	-	5	3211	c.1995A>G	c.(1993-1995)acA>acG	p.T665T	SAMD9L_ENST00000411955.1_Silent_p.T665T|SAMD9L_ENST00000437805.1_Silent_p.T665T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	665								p.T665T(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTCTGTCTCTGTACACTCAT	0.408000													20	34					0	0	0.010504	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675021	53675021	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:53675021C>T	ENST00000262135.4	-	19	2975	c.2882G>A	c.(2881-2883)aGa>aAa	p.R961K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R961K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R961K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R961K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	961					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R961K(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGGTTTAGGTCTTGGTGCCTA	0.363000													4	29					0	0	0.009096	0	0
C4BPA	722	broad.mit.edu	37	1	207287595	207287595	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:207287595C>A	ENST00000367070.3	+	3	487	c.293C>A	c.(292-294)tCt>tAt	p.S98Y		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	98	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.S98Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACCTGTAATTCTGATGGCGAA	0.408000													21	78					1.96292e-10	2.23059e-10	0.010504	1	0
JAK2	3717	broad.mit.edu	37	9	5081748	5081748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:5081748G>T	ENST00000381652.3	+	19	2952	c.2458G>T	c.(2458-2460)Gac>Tac	p.D820Y	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.D820Y|JAK2_ENST00000544510.1_Missense_Mutation_p.D671Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	820					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.D820Y(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)		AACAGAAAATGACATGTTACC	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				30	29					1.08312e-15	1.3433e-15	0.009535	1	0
TECPR1	25851	broad.mit.edu	37	7	97870217	97870217	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:97870217G>T	ENST00000447648.2	-	8	1178	c.879C>A	c.(877-879)gtC>gtA	p.V293V	TECPR1_ENST00000542604.1_Silent_p.V223V|TECPR1_ENST00000379795.3_Silent_p.V293V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	293						integral to membrane	protein binding	p.V293V(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGTGCATGACCCCGTTTT	0.617000													8	32					0.00307968	0.003208	0.003080	1	0
OR6F1	343169	broad.mit.edu	37	1	247875300	247875300	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:247875300C>A	ENST00000302084.2	-	1	805	c.758G>T	c.(757-759)gGg>gTg	p.G253V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			AACTGTGGACCCATACCAAAT	0.527000													56	149					2.73381e-35	4.058e-35	0.014410	1	0
ASXL3	80816	broad.mit.edu	37	18	31323007	31323007	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr18:31323007G>T	ENST00000269197.5	+	12	3195	c.3195G>T	c.(3193-3195)cgG>cgT	p.R1065R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1065	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R772R(2)|p.R1065R(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGCTCGGGCCCAGCGAG	0.612000													10	7					1.28384e-07	1.41163e-07	0.012319	1	0
FYCO1	79443	broad.mit.edu	37	3	46008032	46008032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:46008032C>G	ENST00000296137.2	-	8	2999	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.E932Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	932					transport	integral to membrane	metal ion binding|protein binding	p.E932Q(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCTGGAGCTCCTGGACAGCA	0.627000													26	135					0	0	0.012213	0	0
CDR1	1038	broad.mit.edu	37	X	139866270	139866270	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chrX:139866270G>A	ENST00000370532.2	-	1	453	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	88	23 X 6 AA approximate repeats.							p.L88L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ATGTCTTCCAGACTATCCATG	0.453000													23	42					0	0	0.005443	0	0
CLEC12A	160364	broad.mit.edu	37	12	10132026	10132026	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:10132026G>T	ENST00000304361.4	+	3	464	c.282G>T	c.(280-282)atG>atT	p.M94I	CLEC12A_ENST00000355690.4_Missense_Mutation_p.M104I|CLEC12A_ENST00000350667.4_Missense_Mutation_p.M61I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.M94I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	94						integral to membrane|plasma membrane	receptor activity|sugar binding	p.M104I(1)|p.M94I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TACAACTGATGAGTAACATGA	0.363000													6	3					8.12818e-05	8.59886e-05	0.001984	1	0
OR1J2	26740	broad.mit.edu	37	9	125273575	125273575	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:125273575G>A	ENST00000335302.5	+	1	495	c.495G>A	c.(493-495)cgG>cgA	p.R165R		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	165			R -> Q (in dbSNP:rs4836891).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCCTGACCCGGCTGTCTTTCT	0.527000													5	160					0	0	0.001984	0	0
CAPN11	11131	broad.mit.edu	37	6	44141031	44141031	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:44141031C>A	ENST00000398776.1	+	7	777	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	CAPN11_ENST00000542245.1_Missense_Mutation_p.Q247K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	247	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Q247K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGCGTGGCCCAGAGCTTCCA	0.587000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	102					2.93416e-43	4.53982e-43	0.014410	1	0
C3orf30	152405	broad.mit.edu	37	3	118865982	118865982	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:118865982G>A	ENST00000295622.1	+	1	986	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	316								p.E316K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCAAGCCACTGAACTAGCTGA	0.478000													5	60					0	0	0.001168	0	0
ITGAM	3684	broad.mit.edu	37	16	31336931	31336931	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:31336931G>T	ENST00000544665.3	+	21	2690	c.2619G>T	c.(2617-2619)ccG>ccT	p.P873P	ITGAM_ENST00000287497.8_Silent_p.P872P	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	872					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.P872P(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCATCTTCCCGGAAAACTCAG	0.527000													30	66					3.6622e-26	5.17722e-26	0.003755	1	0
SRMS	6725	broad.mit.edu	37	20	62174736	62174736	+	Silent	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:62174736C>T	ENST00000217188.1	-	3	616	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	192	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E192E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGTGAGCAGCTCCTCCAGGC	0.647000													170	381					0	0	0.014410	0	0
SLC25A37	51312	broad.mit.edu	37	8	23423746	23423746	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:23423746G>A	ENST00000519973.1	+	2	534	c.336G>A	c.(334-336)atG>atA	p.M112I	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	112					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.M112I(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TCATGATCATGGGTGCAGGGC	0.512000													28	68					0	0	0.008361	0	0
MUC2	4583	broad.mit.edu	37	11	1102476	1102476	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:1102476C>A	ENST00000441003.2	+	45	7887	c.7860C>A	c.(7858-7860)gcC>gcA	p.A2620A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4982						inner mucus layer|outer mucus layer	protein binding	p.A2620A(1)		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)	TCATGGAGGCCCCCGGGGAGT	0.602000													7	21					0.00448238	0.00465893	0.004482	1	0
UBA6	55236	broad.mit.edu	37	4	68527971	68527971	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:68527971C>A	ENST00000322244.4	-	13	1099	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	UBA6_ENST00000420827.2_Missense_Mutation_p.C347F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	347					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.C347F(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATCTTGTTGGCATCTACAACT	0.318000													12	63					2.27111e-07	2.47995e-07	0.013537	1	0
DPYS	1807	broad.mit.edu	37	8	105463529	105463529	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:105463529G>T	ENST00000351513.2	-	2	500	c.368C>A	c.(367-369)cCc>cAc	p.P123H		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	123					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.P123H(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAAACTTTGGGATCAGCCCA	0.527000													29	80					9.78306e-22	1.32016e-21	0.009535	1	0
NAT2	10	broad.mit.edu	37	8	18257533	18257533	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:18257533T>A	ENST00000286479.3	+	2	127	c.20T>A	c.(19-21)tTt>tAt	p.F7Y	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	7					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.F7Y(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GAAGCATATTTTGAAAGAATT	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				34	83					0	0	0.006999	0	0
NIPBL	25836	broad.mit.edu	37	5	36961594	36961594	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:36961594A>G	ENST00000282516.8	+	5	866	c.367A>G	c.(367-369)Atg>Gtg	p.M123V	NIPBL_ENST00000448238.2_Missense_Mutation_p.M123V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	123					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.M123V(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGAATGATGATGTCTCAGTA	0.338000													5	41					0	0	0.001984	0	0
NPEPL1	79716	broad.mit.edu	37	20	57268829	57268829	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr20:57268829C>T	ENST00000356091.6	+	2	475	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.P35S|NPEPL1_ENST00000525817.1_Missense_Mutation_p.P15S	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	63					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	p.P63S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CAACCCCAACCCCACGGACAG	0.647000													17	335					0	0	0.010504	0	0
DACH1	1602	broad.mit.edu	37	13	72440100	72440100	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr13:72440100A>G	ENST00000305425.4	-	1	1230	c.808T>C	c.(808-810)Tcc>Ccc	p.S270P	DACH1_ENST00000359684.2_Missense_Mutation_p.S270P|DACH1_ENST00000313174.7_Missense_Mutation_p.S270P|DACH1_ENST00000354591.4_Missense_Mutation_p.S270P	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	268	DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S270P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCTTCCTGGAGATGAGTTTG	0.637000													30	88					0	0	0.007291	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188208	32188208	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:32188208G>C	ENST00000375023.3	-	6	1271	c.1133C>G	c.(1132-1134)tCc>tGc	p.S378C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	378	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.S378C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGAGGCAGGAGAAAGAGCC	0.612000													88	291					0	0	0.014410	0	0
BRINP2	57795	broad.mit.edu	37	1	177250490	177250490	+	Silent	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:177250490G>T	ENST00000361539.4	+	8	2490	c.2178G>T	c.(2176-2178)cgG>cgT	p.R726R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		726						extracellular region		p.R726L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCAGGGACCGGGTGAACCAGC	0.542000													38	213					2.19358e-23	3.03776e-23	0.005524	1	0
GJA4	2701	broad.mit.edu	37	1	35260118	35260118	+	Silent	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:35260118C>A	ENST00000342280.4	+	2	392	c.304C>A	c.(304-306)Cga>Aga	p.R102R		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	102					cell-cell junction assembly	integral to plasma membrane		p.R102R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCTGTCTCGGCGAGAAGAGCG	0.662000													24	44					1.17739e-12	1.38775e-12	0.005443	1	0
BBS10	79738	broad.mit.edu	37	12	76739847	76739847	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:76739847T>A	ENST00000393262.3	-	2	2001	c.1918A>T	c.(1918-1920)Att>Ttt	p.I640F		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	640					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.I640F(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACTTTGGGAATGCCTAAAAGT	0.353000									Bardet-Biedl syndrome				10	61					0	0	0.010729	0	0
ADAM2	2515	broad.mit.edu	37	8	39666959	39666959	+	Silent	SNP	T	T	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:39666959T>G	ENST00000265708.4	-	7	643	c.540A>C	c.(538-540)atA>atC	p.I180I	ADAM2_ENST00000521880.1_Silent_p.I180I|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	180	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.I180I(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATGCATTTCTATATACTTTG	0.259000													5	11					0	0	0.001168	0	0
SH2D1B	117157	broad.mit.edu	37	1	162372583	162372583	+	Silent	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:162372583A>G	ENST00000367929.2	-	2	253	c.144T>C	c.(142-144)aaT>aaC	p.N48N	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.N48N	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	48	SH2.							p.N48N(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTAGACAATATTTTTAAACC	0.353000													27	148					0	0	0.006320	0	0
TRIM31	11074	broad.mit.edu	37	6	30072985	30072985	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:30072985G>C	ENST00000376734.3	-	7	1043	c.918C>G	c.(916-918)aaC>aaG	p.N306K	TRIM31_ENST00000540829.1_Missense_Mutation_p.N306K|TRIM31_ENST00000485864.1_5'UTR	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	306						mitochondrion	ligase activity|zinc ion binding	p.N306K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGAAGAATCTGTTTTCATCTT	0.413000													36	156					0	0	0.003755	0	0
ACSL1	2180	broad.mit.edu	37	4	185705088	185705088	+	Translation_Start_Site	SNP	T	T	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:185705088T>C	ENST00000454703.2	-	0	376				ACSL1_ENST00000437665.3_De_novo_Start_OutOfFrame|ACSL1_ENST00000515030.1_Missense_Mutation_p.Y123C|ACSL1_ENST00000504342.1_Missense_Mutation_p.Y123C|ACSL1_ENST00000507295.1_Missense_Mutation_p.Y123C|ACSL1_ENST00000513317.1_Missense_Mutation_p.Y123C|ACSL1_ENST00000504900.1_Missense_Mutation_p.Y123C|ACSL1_ENST00000281455.2_Missense_Mutation_p.Y123C			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.Y123C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCTGTTTATATGAAAGCCA	0.448000													137	207					0	0	0.014410	0	0
PRKDC	5591	broad.mit.edu	37	8	48777168	48777168	+	Silent	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:48777168G>A	ENST00000314191.2	-	42	5573	c.5517C>T	c.(5515-5517)ttC>ttT	p.F1839F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F1839F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1840					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.F1840F(1)|p.F1839F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAATTGTGCTGAAGAATTCTC	0.483000								Non-homologous end-joining					7	22					0	0	0.004482	0	0
TANC2	26115	broad.mit.edu	37	17	61492904	61492904	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:61492904G>A	ENST00000424789.2	+	23	3788	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1272K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1262							binding	p.E1272K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TAAAGTAAAGGAAGCTGCCCA	0.502000													5	86					0	0	0.001168	0	0
MLST8	64223	broad.mit.edu	37	16	2258703	2258703	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr16:2258703G>T	ENST00000301724.10	+	8	1025	c.951G>T	c.(949-951)tgG>tgT	p.W317C	MLST8_ENST00000301725.7_Intron|MLST8_ENST00000569417.1_Intron|MLST8_ENST00000397124.1_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000382450.4_Intron			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCCTCTGCTGGGGCCGCCTGC	0.697000													94	183					1.22118e-62	1.95306e-62	0.014410	1	0
ANKS1B	56899	broad.mit.edu	37	12	99898388	99898388	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:99898388A>G	ENST00000547776.2	-	10	1303	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	ANKS1B_ENST00000329257.7_Missense_Mutation_p.M435T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.M15T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	435						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.M435T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TACAATTTCCATAGTGTAATT	0.348000													2	4					0	0	0.004672	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020640	58020640	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr12:58020640C>T	ENST00000341156.4	-	11	2073	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.G442R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	497					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G497R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCTCTGCTCCGGCATCCCTT	0.577000													48	135					0	0	0.011902	0	0
RAB34	83871	broad.mit.edu	37	17	27041896	27041896	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:27041896G>C	ENST00000395245.3	-	9	1253	c.627C>G	c.(625-627)ttC>ttG	p.F209L	RAB34_ENST00000395243.3_Missense_Mutation_p.F201L|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000450529.1_Missense_Mutation_p.F201L|RAB34_ENST00000415040.2_Missense_Mutation_p.F187L|RAB34_ENST00000301043.6_Missense_Mutation_p.F209L|RAB34_ENST00000447716.1_Missense_Mutation_p.F266L|RAB34_ENST00000395242.2_Missense_Mutation_p.F210L|RAB34_ENST00000436730.3_Missense_Mutation_p.F209L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	209					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.F209L(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CCACACGGAAGAAGAATTCTC	0.582000													14	158					0	0	0.004990	0	0
SVEP1	79987	broad.mit.edu	37	9	113169628	113169628	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:113169628C>A	ENST00000401783.2	-	38	8588	c.8252G>T	c.(8251-8253)gGc>gTc	p.G2751V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2728V|SVEP1_ENST00000297826.5_Missense_Mutation_p.G677V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2751	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G2754V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAAGTCAGAGCCTGCTAGAAT	0.463000													62	67					8.72158e-25	1.21133e-24	0.014410	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	129					0	0	0.009096	0	0
TREML2	79865	broad.mit.edu	37	6	41162312	41162312	+	Silent	SNP	G	G	T	rs141822677	byFrequency	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr6:41162312G>T	ENST00000483722.1	-	3	821	c.636C>A	c.(634-636)acC>acA	p.T212T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	212					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.T271T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627000													11	73					1.05317e-09	1.19109e-09	0.002450	1	0
CDC25A	993	broad.mit.edu	37	3	48215895	48215895	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr3:48215895C>G	ENST00000302506.3	-	9	1217	c.809G>C	c.(808-810)cGg>cCg	p.R270P	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.R230P	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	270					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.R270P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAACACTGACCGAGTGCTGGA	0.493000													33	68					0	0	0.012213	0	0
RHEB	6009	broad.mit.edu	37	7	151164231	151164231	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:151164231C>A	ENST00000262187.5	-	8	941	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C	RHEB_ENST00000472642.1_Missense_Mutation_p.G72C|RHEB_ENST00000496004.1_Missense_Mutation_p.G72C	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	177					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.G177C(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAAGACTTGCCTTGTGAAGCT	0.448000													12	73					2.27111e-07	2.47995e-07	0.013537	1	0
PAQR6	79957	broad.mit.edu	37	1	156214029	156214029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:156214029delT	ENST00000335852.1	-	7	1294	c.679delA	c.(679-681)ccfs	p.T227fs	PAQR6_ENST00000292291.5_Frame_Shift_Del_p.N309fs|PAQR6_ENST00000540423.1_Frame_Shift_Del_p.N306fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Frame_Shift_Del_p.T227fs|PAQR6_ENST00000360733.2_Frame_Shift_Del_p.T227fs|PAQR6_ENST00000368270.1_Frame_Shift_Del_p.N285fs	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	82						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AATGAGTAGGTTCCCAGCTGC	0.632													25	113	---	---	---	---					
RP11-382D12.2	0	broad.mit.edu	37	1	184354909	184354910	+	RNA	INS	-	-	A	rs145100073	by1000genomes	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:184354909_184354910insA	ENST00000605589.1	-	0	928_929																											CTTTTAATTTGAAAAAAAAAGG	0.356													3	5	---	---	---	---					
IVNS1ABP	10625	broad.mit.edu	37	1	185267224	185267241	+	In_Frame_Del	DEL	TTCCACCGTATTCAGAAA	TTCCACCGTATTCAGAAA	-	rs74132213	byFrequency	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr1:185267224_185267241delTTCCACCGTATTCAGAAA	ENST00000367498.3	-	15	2477_2494	c.1855_1872delTTTCTGAATACGGTGGAA	c.(1855-1872)del	p.FLNTVE619del	IVNS1ABP_ENST00000392007.3_In_Frame_Del_p.FLNTVE401del|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	619					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GGTTATAGACTTCCACCGTATTCAGAAATTCATTGCCA	0.399													19	169	---	---	---	---					
RNASEH1-AS1	100506054	broad.mit.edu	37	2	3608083	3608086	+	RNA	DEL	CTTC	CTTC	-	rs33945746	by1000genomes	TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:3608083_3608086delCTTC	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						TCTcttccttcttccttccttcct	0.451													3	5	---	---	---	---					
STK39	27347	broad.mit.edu	37	2	169103872	169103892	+	In_Frame_Del	DEL	GCCGCCGCCGCTGTCACCGGG	GCCGCCGCCGCTGTCACCGGG	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG	ENST00000355999.4	-	1	759_779	c.54_74delCCCGGTGACAGCGGCGGCGGC	c.(52-75)gcg>gc	p.APVTAAAA18del		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	18	Ala/Pro-rich.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						cggggccgccgccgccgccgctgtcaccggggccgccTGCT	0.814													8	4	---	---	---	---					
C4orf40	401137	broad.mit.edu	37	4	71024063	71024063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:71024063delC	ENST00000344526.5	+	3	283	c.94delC	c.(94-96)acfs	p.H32fs	C4orf40_ENST00000502294.1_Frame_Shift_Del_p.H32fs|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	32						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGACGATGGTCACCCACTTCA	0.398													34	201	---	---	---	---					
MYOZ2	51778	broad.mit.edu	37	4	120107204	120107205	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr4:120107204_120107205insA	ENST00000307128.5	+	6	857_858	c.644_645insA	c.(643-645)agafs	p.R215fs		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	215							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTATTGCTAACAGATCCCAGGT	0.381													19	137	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127627259	127627259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:127627259delG	ENST00000508053.1	-	55	7228	c.6254delC	c.(6253-6255)ctfs	p.P2085fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.P2085fs			P35556	FBN2_HUMAN	fibrillin 2	2085	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAAAGCCAGGGGGGCAGAG	0.433													25	150	---	---	---	---					
PCDHAC1	56135	broad.mit.edu	37	5	140308810	140308810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr5:140308810delC	ENST00000253807.2	+	1	2333	c.2333delC	c.(2332-2334)gcfs	p.A778fs	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Frame_Shift_Del_p.A778fs|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATGCTGCCGACCTGCGA	0.468													45	103	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													2	4	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86468581	86468581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:86468581delC	ENST00000361669.2	+	4	2850	c.1751delC	c.(1750-1752)gcfs	p.A584fs	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Frame_Shift_Del_p.A456fs|GRM3_ENST00000546348.1_Frame_Shift_Del_p.A176fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	584					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCACCATTGCCTGTCTGGGT	0.512													44	102	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459446	100459447	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:100459446_100459447insG	ENST00000354161.3	+	12	1749_1750	c.1624_1625insG	c.(1624-1626)gggfs	p.G542fs	SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.G542fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.G453fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.G453fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.G542fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	542						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGAACCCCCGGGGCGCCCTG	0.658													9	139	---	---	---	---					
MYL10	93408	broad.mit.edu	37	7	101267537	101267539	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:101267537_101267539delCTC	ENST00000223167.4	-	2	261_263	c.84_86delGAG	c.(82-87)cca>cc	p.PR28del		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	28						mitochondrion	calcium ion binding	p.P28P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCGAGCTCTTCTCGGTGCCTGCG	0.606													28	140	---	---	---	---					
WDR91	29062	broad.mit.edu	37	7	134870995	134870996	+	Frame_Shift_Ins	INS	-	-	CACGGTGACCACAGGGG			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr7:134870995_134870996insCACGGTGACCACAGGGG	ENST00000354475.4	-	15	2182_2183	c.2151_2152insCCCCTGTGGTCACCGTG	c.(2149-2154)gtactgfs	p.L718fs	WDR91_ENST00000344400.5_3'UTR|WDR91_ENST00000423565.1_Frame_Shift_Ins_p.L683fs	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	718										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGCTCCAGTCCACGGTGACCA	0.604													9	164	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142477633	142477635	+	RNA	DEL	GCT	GCT	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr8:142477633_142477635delGCT	ENST00000430863.1	-	0	2266_2268					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCCAGTGTGAGCTGCTGCATGAT	0.650													43	122	---	---	---	---					
GARNL3	84253	broad.mit.edu	37	9	130119519	130119519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr9:130119519delC	ENST00000373387.4	+	21	2309	c.1957delC	c.(1957-1959)ccfs	p.P653fs	GARNL3_ENST00000435213.2_Frame_Shift_Del_p.P631fs|GARNL3_ENST00000314904.5_Frame_Shift_Del_p.P653fs|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	653	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.P635T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTCTGACTCTCCCATGGTGAT	0.527													50	68	---	---	---	---					
CEP55	55165	broad.mit.edu	37	10	95276915	95276916	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr10:95276915_95276916delAG	ENST00000371485.3	+	6	1207_1208	c.903_904delAG	c.(901-906)acagfs	p.TE301fs		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	301					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GGCATAAAACAGAGAAGATACA	0.366													30	108	---	---	---	---					
OR5AP2	338675	broad.mit.edu	37	11	56409724	56409724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr11:56409724delG	ENST00000544374.1	-	1	223	c.195delC	c.(193-195)ccfs	p.P65fs	OR5AP2_ENST00000302981.1_Frame_Shift_Del_p.P64fs			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGAAATACATGGGGGTGTGGA	0.438													43	69	---	---	---	---					
TRAV12-3	28672	broad.mit.edu	37	14	22433966	22433967	+	RNA	INS	-	-	T			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:22433966_22433967insT	ENST00000390442.3	+	0	108																											TACCCAATCTGTCTTCTCTGTC	0.500													10	43	---	---	---	---					
EML5	161436	broad.mit.edu	37	14	89087598	89087599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr14:89087598_89087599insC	ENST00000554922.1	-	38	5308_5309	c.5060_5061insG	c.(5059-5061)ggafs	p.G1687fs	EML5_ENST00000352093.5_Frame_Shift_Ins_p.G1641fs|EML5_ENST00000380664.5_Frame_Shift_Ins_p.G1679fs|EML5_ENST00000553320.1_5'UTR	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1679						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATTTTTCTCTCCAACTTCGAT	0.421													19	133	---	---	---	---					
SKOR1	390598	broad.mit.edu	37	15	68119430	68119430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:68119430delG	ENST00000380035.2	+	2	1322	c.1264delG	c.(1264-1266)gtfs	p.G422fs	SKOR1_ENST00000554240.1_Frame_Shift_Del_p.G383fs|SKOR1_ENST00000554054.1_Frame_Shift_Del_p.G394fs|SKOR1_ENST00000341418.5_Splice_Site_p.G529_splice|SKOR1_ENST00000389002.1_Frame_Shift_Del_p.G378fs			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	422					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCCAAAGGGCGGTCCTGGCAC	0.751													8	52	---	---	---	---					
BLM	641	broad.mit.edu	37	15	91341467	91341468	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr15:91341467_91341468insTT	ENST00000355112.3	+	17	3376_3377	c.3258_3259insTT	c.(3256-3261)agttgtfs	p.C1087fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.C1087fs|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1087					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTATTGTAAGATTTGTTCAAGA	0.322			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				23	109	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43347745	43347746	+	RNA	INS	-	-	C			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:43347745_43347746insC	ENST00000344686.2	-	0	2078							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGTCTTCTGCCCCCCGGGTC	0.639													40	57	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60348726	60348726	+	RNA	DEL	T	T	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr17:60348726delT	ENST00000581291.1	-	0	462																				breast(2)|kidney(1)|lung(2)	5						ACCTGGTATCTTCCGGGGTTT	0.567													156	189	---	---	---	---					
ZNF181	339318	broad.mit.edu	37	19	35231824	35231824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4250-01A-01D-1105-08	TCGA-05-4250-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c4fe84-8beb-4a3a-920c-e74c7edd2182	15c63561-c425-49e3-8d90-00537cfa567f	g.chr19:35231824delG	ENST00000392232.3	+	6	838	c.670delG	c.(670-672)ggfs	p.G224fs	ZNF181_ENST00000492450.1_Frame_Shift_Del_p.G180fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.G179fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCTGCTGAAGGGAATTCACA	0.308													37	20	---	---	---	---					
