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
ICAM5	7087	broad.mit.edu	37	19	10403724	10403724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:10403724G>C	ENST00000221980.4	+	6	1330	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	423	Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane		p.E423K(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GACGTGGCCCGAGGGCCCAGA	0.692000													9	64					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376956	200376956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:200376956G>C	ENST00000294740.2	-	2	2002	c.1878C>G	c.(1876-1878)ttC>ttG	p.F626L	ZNF281_ENST00000367353.1_Missense_Mutation_p.F626L|ZNF281_ENST00000367352.3_Missense_Mutation_p.F590L	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	626					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGCAATATTGAAAGGATCCT	0.393000													7	53					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104139379	104139379	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:104139379G>A	ENST00000369983.3	+	35	5004	c.4744G>A	c.(4744-4746)Gcc>Acc	p.A1582T		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1582					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGCTAGATGCCCTGGAATG	0.507000													30	153					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31860640	31860640	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:31860640C>T	ENST00000395728.3	-	4	800	c.801G>A	c.(799-801)atG>atA	p.M267I	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.M267I|EHMT2_ENST00000375530.4_Missense_Mutation_p.M210I|EHMT2_ENST00000375537.4_Missense_Mutation_p.M210I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	210					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CATCATCACTCATGCGGAAAT	0.587000													4	51					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132010574	132010574	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:132010574C>T	ENST00000356920.5	+	13	1774	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	560							ATP binding										CTAATGGTGCCACTGCTGGCA	0.428000													5	48					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21242606	21242606	+	Silent	SNP	G	G	T	rs137875230	byFrequency	TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:21242606G>T	ENST00000233242.1	-	19	3115	c.2988C>A	c.(2986-2988)acC>acA	p.T996T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	996					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGTGTCCCCGGTCAGCGGAT	0.537000													15	27					2.35188e-11	2.56217e-11	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37000480	37000480	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:37000480A>G	ENST00000282516.8	+	12	3809	c.3310A>G	c.(3310-3312)Agg>Ggg	p.R1104G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1104G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1104					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			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)			TCTAGCCTCTAGGAAACGACA	0.368000													12	38					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25851078	25851078	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:25851078G>C	ENST00000545439.1	-	0	491				DTNB_ENST00000407186.1_Missense_Mutation_p.I108M|DTNB_ENST00000404103.3_Missense_Mutation_p.I108M|DTNB_ENST00000407661.3_Missense_Mutation_p.I108M|DTNB_ENST00000405222.1_Missense_Mutation_p.I108M|DTNB_ENST00000407038.3_Missense_Mutation_p.I108M|DTNB_ENST00000288642.8_Missense_Mutation_p.I108M|DTNB_ENST00000406818.3_Missense_Mutation_p.I108M|DTNB_ENST00000496972.2_Missense_Mutation_p.I51M|DTNB_ENST00000472690.1_5'UTR			O60941	DTNB_HUMAN	dystrobrevin, beta							cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGAGGCTGATAGATTGTT	0.433000													8	29					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139941699	139941699	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:139941699C>T	ENST00000357560.4	-	6	1055	c.612G>A	c.(610-612)ggG>ggA	p.G204G	APBB3_ENST00000511201.2_Silent_p.G204G|APBB3_ENST00000358580.5_Silent_p.G204G|APBB3_ENST00000356738.2_Silent_p.G204G|APBB3_ENST00000412920.3_Silent_p.G204G|APBB3_ENST00000354402.5_Silent_p.G204G|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	204	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGGAGCTCCCCACGCCCC	0.597000													7	48					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42731855	42731855	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:42731855G>A	ENST00000263805.4	-	8	4177	c.3851C>T	c.(3850-3852)tCa>tTa	p.S1284L	ZNF106_ENST00000565611.1_Missense_Mutation_p.S469L|ZNF106_ENST00000565380.1_Missense_Mutation_p.S512L	NM_022473.1	NP_071918.1			zinc finger protein 106																		AAGACCAGCTGATTGGGAAGA	0.428000													8	69					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407341	9407341	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:9407341C>T	ENST00000591998.1	-	6	967	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZNF699_ENST00000308650.3_Missense_Mutation_p.E247K			Q32M78	ZN699_HUMAN	zinc finger protein 699	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTTCTCTTCAGTGGGGGTT	0.428000													7	56					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57027713	57027713	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:57027713C>G	ENST00000308031.5	+	3	236	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	ZNF471_ENST00000591537.1_Missense_Mutation_p.Q35E|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q35E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAACCCTGCTCAGAAGCGTTT	0.413000													5	49					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2052214	2052214	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:2052214C>T	ENST00000563630.1	-	5	965	c.723G>A	c.(721-723)cgG>cgA	p.R241R	ZNF598_ENST00000562103.1_Silent_p.R241R|ZNF598_ENST00000431526.1_Silent_p.R296R			Q86UK7	ZN598_HUMAN	zinc finger protein 598	296						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CACCCTCGTTCCGGCGCGAGT	0.697000													20	31					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11604447	11604447	+	Silent	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:11604447A>T	ENST00000262442.3	+	24	5102	c.5034A>T	c.(5032-5034)atA>atT	p.I1678I	DNAH9_ENST00000454412.2_Silent_p.I1678I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1678	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTAGAAATATGGCTGAACC	0.468000													17	71					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100428	117100428	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:117100428C>T	ENST00000320934.3	-	3	763	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	45					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCCTGGCCATCAGGCCCACCT	0.672000			T	IGH@	MLCLS								10	44					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719553	48719553	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:48719553G>A	ENST00000294129.2	-	4	642	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R168C|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R175C	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	175	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGCTCGGCGAGGCTGTGGT	0.612000													18	25					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300400	18300400	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:18300400G>A	ENST00000441493.2	-	26	5379	c.5027C>T	c.(5026-5028)cCg>cTg	p.P1676L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1676						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGAGTCCGACGGCGGGGAGAG	0.647000													5	21					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223742	51223742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:51223742G>A	ENST00000245441.5	-	18	4196	c.4006C>T	c.(4006-4008)Cag>Tag	p.Q1336*	NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.Q1336*|NIN_ENST00000530997.2_Nonsense_Mutation_p.Q1336*|NIN_ENST00000382041.3_Nonsense_Mutation_p.Q1336*|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.Q1336*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1336					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.Q1336*(2)|p.Q1342*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACGCTTTCCTGAAGCTTCTCA	0.453000			T	PDGFRB	MPD								4	28					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22134947	22134947	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:22134947G>A	ENST00000389398.5	+	16	1547	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	484						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGCTCAGCAGAGCTATGCGG	0.567000													8	67					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962618	165962618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:165962618C>G	ENST00000512596.1	+	3	1610	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.S465*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.S465*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	465	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATCTGCTCAGTATCAGAT	0.348000													5	11					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	688009	688009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:688009C>T	ENST00000382409.3	-	4	1050	c.566G>A	c.(565-567)gGa>gAa	p.G189E	DEAF1_ENST00000338675.6_Missense_Mutation_p.G189E	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	189					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTATTTAGTTCCACCTTTTTC	0.567000													7	34					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323277	79323277	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:79323277C>G	ENST00000428286.1	-	8	4036	c.2836G>C	c.(2836-2838)Gag>Cag	p.E946Q	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1305Q			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1305					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTGGATTCTCAAGCCTAGTC	0.512000													7	35					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25605596	25605596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:25605596C>T	ENST00000232165.3	-	7	2343	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	UBE3A_ENST00000438097.1_Missense_Mutation_p.D543N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.D566N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D543N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D543N	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	566					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CCTCCCTCATCAACTCCTTGT	0.373000													5	35					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261484	33261484	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:33261484C>T	ENST00000334528.9	-	4	1748	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q	FMN1_ENST00000559047.1_Silent_p.Q806Q|FMN1_ENST00000561249.1_Silent_p.Q708Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	806	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCTGTCTGTCTGGACGCACA	0.463000													50	261					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719807	48719807	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:48719807G>C	ENST00000294129.2	-	3	579	c.460C>G	c.(460-462)Ctt>Gtt	p.L154V	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.L154V|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.L154V	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	154					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGCCCCAAGATGCTCAGAA	0.607000													59	128					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839756	15839756	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:15839756C>G	ENST00000305899.3	+	1	923	c.903C>G	c.(901-903)gcC>gcG	p.A301A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TGAAGGTTGCCATGAAGAGGA	0.532000													5	53					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	415490	415490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:415490G>A	ENST00000280886.6	-	18	2162	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	DIP2C_ENST00000381496.3_Missense_Mutation_p.S585L|DIP2C_ENST00000540204.1_Missense_Mutation_p.S13L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	692						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTTCTCTTCCGAGTCCACACG	0.562000													11	64					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10336455	10336455	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:10336455G>A	ENST00000377086.1	+	12	1237	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	KIF1B_ENST00000377083.1_Silent_p.L339L|KIF1B_ENST00000263934.6_Silent_p.L339L|KIF1B_ENST00000377081.1_Silent_p.L345L|KIF1B_ENST00000377093.4_Silent_p.L339L			O60333	KIF1B_HUMAN	kinesin family member 1B	345	Interaction with KBP.|Kinesin-motor.				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			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)		TGAGCACTCTGAGGTACTTTC	0.413000													3	20					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121527778	121527778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:121527778C>G	ENST00000310864.6	-	6	686	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E158Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	158					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGAATAAGTTCAACATGGCCT	0.338000													6	14					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329270	152329270	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:152329270G>A	ENST00000388718.5	-	3	1064	c.992C>T	c.(991-993)tCa>tTa	p.S331L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	331	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTCCTGAGACACAGCC	0.478000													20	153					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144354731	144354731	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:144354731A>T	ENST00000262995.4	+	3	882	c.455A>T	c.(454-456)gAt>gTt	p.D152V	GAB1_ENST00000505913.1_Missense_Mutation_p.D49V|GAB1_ENST00000262994.4_Missense_Mutation_p.D152V	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	152					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACCCAGGCAGATTCATCCTCT	0.478000													19	54					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730028	200730028	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:200730028C>G	ENST00000358823.2	+	2	471	c.201C>G	c.(199-201)atC>atG	p.I67M	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I67M|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I67M	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	67						cytoplasm|microtubule	protein binding										AGGAACACATCAAACCACCTG	0.393000													22	113					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89849240	89849240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:89849240G>C	ENST00000310775.7	+	32	3438	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q	FANCI_ENST00000300027.8_Missense_Mutation_p.E1058Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1118					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCTTTAGAAGAGGCCTCTTC	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	56					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36912774	36912774	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:36912774C>T	ENST00000216190.8	-	11	1424	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	EIF3D_ENST00000541106.1_Missense_Mutation_p.E303K|EIF3D_ENST00000405442.1_Missense_Mutation_p.E352K	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	352						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GAGGCGATTTCATTCTTATCC	0.512000													22	104					0	0	1	0	0
VIMP	55829	broad.mit.edu	37	15	101814877	101814877	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:101814877C>G	ENST00000398226.3	-	4	360	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	VIMP_ENST00000531964.1_Missense_Mutation_p.E87Q|VIMP_ENST00000537379.1_Missense_Mutation_p.E110Q|VIMP_ENST00000526049.1_Missense_Mutation_p.E110Q					VCP-interacting membrane protein																		CTCCTTTTTTCTTCTTCAAGC	0.388000													3	13					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	425559	425559	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:425559T>C	ENST00000256509.2	+	19	2879	c.2237T>C	c.(2236-2238)aTa>aCa	p.I746T	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.I730T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	730	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAATGATTATAAAGTGGGAG	0.333000													8	36					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47765638	47765638	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:47765638G>C	ENST00000360380.3	-	7	1003	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V	STIL_ENST00000243182.6_Missense_Mutation_p.L214V|STIL_ENST00000396221.2_Missense_Mutation_p.L214V|STIL_ENST00000371877.3_Missense_Mutation_p.L214V|STIL_ENST00000337817.5_Missense_Mutation_p.L214V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	214					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTTCTTGCCAGAGCTGTTGGA	0.368000													15	35					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125416	204125416	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:204125416C>T	ENST00000367195.2	-	7	884	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	REN_ENST00000272190.8_Missense_Mutation_p.E284K			P00797	RENI_HUMAN	renin	284					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGCCGTCTTCACAGAGCAAG	0.577000													23	153					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47765695	47765695	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:47765695G>C	ENST00000360380.3	-	7	946	c.583C>G	c.(583-585)Cta>Gta	p.L195V	STIL_ENST00000243182.6_Missense_Mutation_p.L195V|STIL_ENST00000396221.2_Missense_Mutation_p.L195V|STIL_ENST00000371877.3_Missense_Mutation_p.L195V|STIL_ENST00000337817.5_Missense_Mutation_p.L195V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	195					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTATTTGCTAGAGTTACTGCT	0.428000													11	66					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28362171	28362171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:28362171G>C	ENST00000373871.3	-	6	485	c.245C>G	c.(244-246)tCa>tGa	p.S82*	EYA3_ENST00000373864.1_Intron|EYA3_ENST00000373863.3_Nonsense_Mutation_p.S82*|EYA3_ENST00000545175.1_Nonsense_Mutation_p.S29*|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S82*|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	82					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGGAACTGAGAGAATATG	0.398000													8	86					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513577	113513577	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:113513577C>G	ENST00000541405.1	-	4	1399	c.876G>C	c.(874-876)aaG>aaC	p.K292N	CKAP2L_ENST00000302450.6_Missense_Mutation_p.K457N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	457						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTGTTGCCTTCTTTTTAATAT	0.408000													15	134					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827001	35827001	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:35827001C>G	ENST00000085219.5	+	4	541	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	CD22_ENST00000544992.2_Missense_Mutation_p.L159V|CD22_ENST00000419549.2_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.L159V|CD22_ENST00000341773.6_Missense_Mutation_p.L159V|CD22_ENST00000594250.1_Missense_Mutation_p.L159V|CD22_ENST00000270311.6_Missense_Mutation_p.L39V	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	159	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGAAGTCACTCTGACCTGCTT	0.547000													14	88					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182547	109182547	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:109182547C>T	ENST00000326495.5	-	15	2460	c.2367G>A	c.(2365-2367)ctG>ctA	p.L789L	SSH1_ENST00000360239.3_Silent_p.L477L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	789					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGAAGCCTCAGGTCCTTGG	0.478000													9	74					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69825286	69825286	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:69825286C>G	ENST00000395889.2	-	25	2232	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	TEX11_ENST00000344304.3_Missense_Mutation_p.E693Q|TEX11_ENST00000374320.2_Missense_Mutation_p.E368Q|TEX11_ENST00000374333.2_Missense_Mutation_p.E678Q	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	693							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCCCTTGCTCTAGATCAACT	0.393000													13	8					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640757	6640757	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:6640757C>T	ENST00000377674.4	+	2	246	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	30	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CGACGCCACTCTGGACGTGGG	0.612000													7	61					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91247235	91247235	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:91247235C>G	ENST00000357056.2	-	3	413	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	TTC7B_ENST00000328459.6_Missense_Mutation_p.E98Q			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	98							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGATTGGATTCTTGTAGGAAT	0.463000													10	67					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232596704	232596704	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:232596704G>A	ENST00000366630.1	-	9	3382	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	SIPA1L2_ENST00000262861.4_Silent_p.I1008I|SIPA1L2_ENST00000308942.4_Silent_p.I82I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1008	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGCAGGTCGATCATCTGCT	0.592000													7	55					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242347008	242347008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:242347008C>T	ENST00000264042.3	+	5	558	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	FARP2_ENST00000545004.1_Nonsense_Mutation_p.Q130*|FARP2_ENST00000373287.4_Nonsense_Mutation_p.Q130*	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	130	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGATCCTGGTCAGCTACAAGA	0.418000													5	37					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101598211	101598211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:101598211C>T	ENST00000284395.5	+	30	4935	c.4535C>T	c.(4534-4536)tCg>tTg	p.S1512L	LRRK1_ENST00000388948.3_Missense_Mutation_p.S1515L|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1515	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGCCCTGTCGGTGGTGAGC	0.582000													7	68					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34107422	34107422	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:34107422C>T	ENST00000361264.4	-	3	816	c.475G>A	c.(475-477)Gga>Aga	p.G159R	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	159						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGGTTGTCTCCTCCAGTGGCT	0.537000													15	69					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70601431	70601431	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:70601431G>A	ENST00000302516.5	+	21	3155	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	982					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCGAAAATGTGAGAATAAGGT	0.498000													9	43					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43181178	43181178	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:43181178C>G	ENST00000592782.1	+	11	1397	c.1266C>G	c.(1264-1266)ttC>ttG	p.F422L	NMT1_ENST00000258960.2_Missense_Mutation_p.F422L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	422					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CTTATTCTTTCTACAACGTTC	0.527000													54	200					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76633474	76633474	+	Splice_Site	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:76633474G>A	ENST00000290759.4	+	5	955		c.e5-1		RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TTGCCCCGCAGAGCCTTCAGG	0.622000													7	39					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289183	33289183	+	Silent	SNP	G	G	C	rs142969892	byFrequency	TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:33289183G>C	ENST00000374542.5	-	3	573	c.369C>G	c.(367-369)ctC>ctG	p.L123L	DAXX_ENST00000414083.2_Silent_p.L48L|DAXX_ENST00000266000.6_Silent_p.L123L|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	123	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTAGACATAGAGCTTGGCTG	0.592000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								15	77					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152316581	152316581	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:152316581C>T	ENST00000243326.4	+	25	3506	c.3023C>T	c.(3022-3024)tCa>tTa	p.S1008L	RIF1_ENST00000453091.2_Missense_Mutation_p.S1008L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1008L|RIF1_ENST00000444746.2_Missense_Mutation_p.S1008L|RIF1_ENST00000430328.2_Missense_Mutation_p.S1008L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1008					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAAGAGATTCATTTTTGGCA	0.249000													4	14					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120653741	120653741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:120653741G>A	ENST00000397506.3	-	3	1168	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PXN_ENST00000538144.1_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000228307.7_Intron			P49023	PAXI_HUMAN	paxillin	84					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCGGGCGCTGGGCCTGGGGG	0.627000													6	21					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49464096	49464096	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:49464096C>G	ENST00000293288.8	+	5	399	c.399C>G	c.(397-399)atC>atG	p.I133M	BAX_ENST00000354470.3_Missense_Mutation_p.I84M|BAX_ENST00000539787.1_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.I133M|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000345358.7_Missense_Mutation_p.I133M	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	133					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CGGAACTGATCAGAACCATCA	0.607000													12	65					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387757	30387757	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:30387757G>A	ENST00000322861.7	+	4	267	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	62					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			GCCTCAATGTGAAGAATGAGG	0.582000													7	54					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387149	30387149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:30387149G>C	ENST00000322861.7	+	2	93	c.12G>C	c.(10-12)aaG>aaC	p.K4N		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	4					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			AGGCACCCAAGAGGGCCAAGA	0.577000													5	23					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604467	13604467	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:13604467C>G	ENST00000040738.5	-	10	4192	c.4057G>C	c.(4057-4059)Gat>Cat	p.D1353H		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1353							DNA binding										GCTGGTGTATCTACTGTGAAA	0.443000													11	54					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43504329	43504329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:43504329G>T	ENST00000400427.1	+	3	635	c.239G>T	c.(238-240)cGc>cTc	p.R80L	UMODL1_ENST00000408989.2_Missense_Mutation_p.R152L|UMODL1_ENST00000408910.2_Missense_Mutation_p.R152L|UMODL1_ENST00000400424.1_Missense_Mutation_p.R80L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	152	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGGGGGCGCTACTGCATG	0.652000													15	70					0.00244969	0.00252046	1	1	0
ATF7IP2	80063	broad.mit.edu	37	16	10567815	10567815	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:10567815G>C	ENST00000396560.2	+	10	1745	c.1518G>C	c.(1516-1518)ttG>ttC	p.L506F	ATF7IP2_ENST00000396559.1_Intron|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.L50F|ATF7IP2_ENST00000324570.5_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L506F	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAATTGATTTGACAAAAGAAG	0.299000													4	18					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632382	91632382	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:91632382G>A	ENST00000359028.2	+	9	3412	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1063K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1051K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1063					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATAATGGTGGAAGATAAAGT	0.343000			T	BRAF	papillary thyroid								8	37					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236187491	236187491	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:236187491C>T	ENST00000264187.6	-	9	2089	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	NID1_ENST00000366595.3_Silent_p.Q669Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	669	EGF-like 2.		Q -> R (in dbSNP:rs3738534).		cell-matrix adhesion	basement membrane	calcium ion binding			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)	AGCAGGGATTCTGAAGAGCAT	0.562000													5	32					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208573	58208573	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:58208573C>T	ENST00000377918.3	+	1	1919	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACGGCAACGACGACCACC	0.657000													10	110					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385705	21385705	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:21385705C>T	ENST00000382932.2	-	2	464	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V133M|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	133					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCACGGGCCACGGCGGCGCCA	0.612000													5	29					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74649173	74649173	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:74649173G>C	ENST00000253159.8	+	26	4848	c.4650G>C	c.(4648-4650)tcG>tcC	p.S1550S	ZNF236_ENST00000320610.9_Silent_p.S1552S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1550					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGCCATCTCGACTCAGAACC	0.537000													17	52					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229899	7229899	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:7229899A>T	ENST00000379938.2	+	10	2104	c.1567A>T	c.(1567-1569)Acg>Tcg	p.T523S	RREB1_ENST00000334984.6_Missense_Mutation_p.T523S|RREB1_ENST00000379933.3_Missense_Mutation_p.T523S|RREB1_ENST00000349384.6_Missense_Mutation_p.T523S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCACCTCCACGCCCCCGCC	0.682000													33	177					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24979984	24979984	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:24979984C>T	ENST00000289968.6	-	5	451	c.382G>A	c.(382-384)Gag>Aag	p.E128K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E128K|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E128K|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	128	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCACCCACCTCAGCTATGCCG	0.527000													22	77					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558837	61558837	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:61558837G>C	ENST00000457692.1	+	3	492	c.159G>C	c.(157-159)caG>caC	p.Q53H	SERPINB2_ENST00000299502.4_Missense_Mutation_p.Q53H	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	53					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCGAAGACCAGATGGCCAAGG	0.517000													5	22					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85622333	85622333	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:85622333C>T	ENST00000280245.4	+	8	1194	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	CCDC83_ENST00000376067.1_Missense_Mutation_p.H129Y|CCDC83_ENST00000342404.3_Missense_Mutation_p.H228Y|CCDC83_ENST00000529676.2_3'UTR	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	228										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGTTGCAATTCACAGGAAGGA	0.308000													18	48					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	772527	772527	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:772527C>T	ENST00000305108.4	-	1	418	c.138G>A	c.(136-138)gaG>gaA	p.E46E	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTGATTCCATCTCGCTGCCCT	0.572000													25	100					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135507	55135507	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:55135507G>A	ENST00000314706.3	+	1	148	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACAGAACCCTGAGGGGCAAAA	0.438000													9	46					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32848978	32848978	+	Splice_Site	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:32848978G>A	ENST00000380250.3	+	56	8632		c.e56-1		FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		TTGCCTTGCAGAATATTCAGA	0.388000													8	53					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224468875	224468875	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:224468875C>T	ENST00000281701.6	-	16	2171	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	NVL_ENST00000340871.4_Missense_Mutation_p.E449K|NVL_ENST00000361463.3_Missense_Mutation_p.E532K|NVL_ENST00000482491.1_Missense_Mutation_p.E362K|NVL_ENST00000391875.2_Missense_Mutation_p.E532K|NVL_ENST00000469075.1_Missense_Mutation_p.E547K	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	638						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AGTCCGGACTCATTTGCAACA	0.333000													5	56					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16295298	16295298	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:16295298G>C	ENST00000259727.4	+	9	1033	c.919G>C	c.(919-921)Gat>Cat	p.D307H	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	307					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	p.D307H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CACTATCCTGGATATTCTCGG	0.517000													7	58					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721749	64721749	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:64721749G>A	ENST00000338957.4	+	5	1238	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E380K	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	380							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGGCTGATGAGCTCCGCAT	0.527000													3	2					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152517413	152517413	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:152517413C>G	ENST00000256001.8	+	7	704	c.570C>G	c.(568-570)atC>atG	p.I190M	ACTR3B_ENST00000377776.3_Missense_Mutation_p.I190M|ACTR3B_ENST00000397282.2_Missense_Mutation_p.I102M|ACTR3B_ENST00000537264.1_Missense_Mutation_p.I102M	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	190					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	p.I190M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAAGCTGCATCAAACACATCC	0.502000													6	28					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883790	228883790	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:228883790C>G	ENST00000392056.3	-	7	1826	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E594Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	594						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAAGCCTCAGCTGCAGGC	0.567000													5	45					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43004901	43004901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:43004901C>T	ENST00000428554.2	+	10	1318	c.175C>T	c.(175-177)Cca>Tca	p.P59S	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.P59S|CCDC30_ENST00000340612.4_Missense_Mutation_p.P59S			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	59										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCACAATCTTCCAGGGGAATC	0.318000													11	34					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867415	2867415	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:2867415T>A	ENST00000545496.1	-	7	1150	c.859A>T	c.(859-861)Acg>Tcg	p.T287S	ARSE_ENST00000381134.3_Missense_Mutation_p.T262S|ARSE_ENST00000540563.1_Missense_Mutation_p.T217S			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	262					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGCTCCGTGATGGTGTGG	0.532000													23	18					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065526	145065526	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:145065526C>T	ENST00000313269.5	+	2	413	c.135C>T	c.(133-135)ccC>ccT	p.P45P	GRINA_ENST00000395068.4_Silent_p.P45P	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	45	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCACAGCCCCCTTTCCAGC	0.697000													7	8					0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1972198	1972198	+	Silent	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:1972198G>T	ENST00000381514.3	+	2	109	c.87G>T	c.(85-87)gtG>gtT	p.V29V	MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000397297.3_Silent_p.V29V|MRPL23_ENST00000397294.3_Silent_p.V29V|MRPL23_ENST00000397298.3_Silent_p.V29V|MRPL23_ENST00000381519.1_Silent_p.V29V			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	29					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TTCAGCTGGTGCGGCCCGGTG	0.637000													3	25					0.115264	0.116016	1	1	0
CSNK1D	1453	broad.mit.edu	37	17	80211091	80211091	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:80211091C>G	ENST00000314028.6	-	4	715	c.366G>C	c.(364-366)aaG>aaC	p.K122N	CSNK1D_ENST00000398519.5_Missense_Mutation_p.K122N|CSNK1D_ENST00000392334.2_Missense_Mutation_p.K122N|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	122	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGATGAAGTTCTTTGAATGAA	0.562000													12	152					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502391	186502391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:186502391G>T	ENST00000323963.5	+	3	178	c.114G>T	c.(112-114)atG>atT	p.M38I	EIF4A2_ENST00000440191.2_Missense_Mutation_p.M39I|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	38					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTGATGATATGAATTTAAAGG	0.373000			T	BCL6	NHL								17	104					3.32936e-07	3.52744e-07	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:153906083C>A	ENST00000361217.4	-	20	3624	c.3206G>T	c.(3205-3207)cGc>cTc	p.R1069L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711000													3	20					6.4e-05	6.71927e-05	1	1	0
WBSCR27	155368	broad.mit.edu	37	7	73254795	73254795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:73254795G>A	ENST00000297873.4	-	4	386	c.337C>T	c.(337-339)Cag>Tag	p.Q113*		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	113										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CTGAGGCGCTGATAGAGGCCG	0.692000													3	8					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499827	93499827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:93499827C>T	ENST00000394196.4	+	16	3016	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q650*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	650	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.Q650*(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACCCCTCTTCAGAATTCCCT	0.428000													16	69					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124921812	124921812	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:124921812G>A	ENST00000368865.4	+	6	846	c.637G>A	c.(637-639)Gag>Aag	p.E213K	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000538238.1_Missense_Mutation_p.E133K|BUB3_ENST00000368858.5_Missense_Mutation_p.E213K	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCCAAGCCCTGAGGTACAGAA	0.393000													9	137					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690311	49690311	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:49690311G>C	ENST00000296452.4	+	5	3436	c.3322G>C	c.(3322-3324)Gag>Cag	p.E1108Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1108					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGACGGAGGAGCTGAGGCA	0.647000													18	107					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28304791	28304791	+	Splice_Site	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:28304791C>T	ENST00000380254.2	-	7	889		c.e7-1		RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Splice_Site|FBXO16_ENST00000518734.1_Splice_Site	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16											large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTTTCTTCTTCTGTAAATTGG	0.358000													10	49					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685338	67685338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:67685338C>A	ENST00000334583.6	+	24	2676	c.2348C>A	c.(2347-2349)cCa>cAa	p.P783Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.P747Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	783										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGAAGCTCCCCAAGCCATCAC	0.582000													7	22					0.00198382	0.00204567	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27147796	27147796	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:27147796G>C	ENST00000396352.4	-	3	1269	c.1070C>G	c.(1069-1071)aCc>aGc	p.T357S	HOXA3_ENST00000317201.2_Missense_Mutation_p.T357S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	357					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TATGTGTGGGGTCCCATAGCT	0.677000													3	19					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233340	104233340	+	Silent	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:104233340C>A	ENST00000238936.4	+	8	1176	c.939C>A	c.(937-939)gtC>gtA	p.V313V	TMEM180_ENST00000366277.2_Silent_p.V42V	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	313						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTCCTATGTCGCTCCCCATC	0.632000													36	136					1.07637e-12	1.17537e-12	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46265495	46265495	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:46265495A>G	ENST00000372004.3	+	12	2581	c.2365A>G	c.(2365-2367)Aca>Gca	p.T789A	NCOA3_ENST00000341724.6_Missense_Mutation_p.T799A|NCOA3_ENST00000371998.3_Missense_Mutation_p.T789A|NCOA3_ENST00000371997.3_Missense_Mutation_p.T799A	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	789					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAAGACAGAGACAAGTGAAGA	0.358000													8	40					0	0	1	0	0
RPS15	6209	broad.mit.edu	37	19	1440453	1440453	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:1440453C>G	ENST00000591804.2	+	5	657	c.331C>G	c.(331-333)Ctc>Gtc	p.L111V	RPS15_ENST00000233609.4_Missense_Mutation_p.L117V|RPS15_ENST00000586686.2_Missense_Mutation_p.L144V|RPS15_ENST00000593052.1_Missense_Mutation_p.L151V|RPS15_ENST00000589656.2_Missense_Mutation_p.L140V|RPS15_ENST00000591032.1_Missense_Mutation_p.L111V|RPS15_ENST00000585665.1_Missense_Mutation_p.L111V|RPS15_ENST00000586096.2_3'UTR			P62841	RS15_HUMAN	ribosomal protein S15	144					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCATCCCTCTCAAGTAATG	0.612000													10	35					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101146559	101146559	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:101146559G>A	ENST00000428847.2	-	4	2024	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	570					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGCTGGAGCCGAGTGGCAGCA	0.493000													10	82					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364331	69364331	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:69364331G>A	ENST00000342771.4	+	2	690	c.369G>A	c.(367-369)aaG>aaA	p.K123K	AUTS2_ENST00000406775.2_Silent_p.K123K|AUTS2_ENST00000403018.2_Silent_p.K123K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	123										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCTGACCAAGAAGAAACGAG	0.478000													8	65					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136183796	136183796	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:136183796C>T	ENST00000383202.2	-	13	1496	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	STAG1_ENST00000536929.1_Intron|STAG1_ENST00000434713.2_Missense_Mutation_p.E188K|STAG1_ENST00000236698.5_Missense_Mutation_p.E414K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	414					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAACATTTTCACAGTCTTCA	0.378000													5	23					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169305861	169305861	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:169305861G>C	ENST00000511577.1	-	30	4265	c.4018C>G	c.(4018-4020)Cct>Gct	p.P1340A	DDX60L_ENST00000260184.7_Missense_Mutation_p.P1340A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1340	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTCAGCTCAGGAACACTGGAT	0.502000													3	15					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128796482	128796482	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:128796482C>G	ENST00000280333.6	+	8	845	c.736C>G	c.(736-738)Cta>Gta	p.L246V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	246					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			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)		CCTCATGTCTCTATATGACCC	0.453000													14	112					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36431278	36431278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:36431278G>T	ENST00000405275.2	+	12	1203	c.960G>T	c.(958-960)aaG>aaT	p.K320N	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.K95N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.K347N|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.K160N			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	347					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGAAAAGAAGATCTCCCGGA	0.428000													10	61					1.08611e-07	1.15868e-07	1	1	0
ACTB	60	broad.mit.edu	37	7	5569008	5569008	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:5569008C>T	ENST00000331789.5	-	3	338	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	49					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGAATCCTTCTGACCCATGC	0.627000													12	118					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600251	29600251	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:29600251C>T	ENST00000431530.3	+	1	1504	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	472						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTTTGGTGTTCAATCCTTCTG	0.507000													4	44					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224264	26224264	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:26224264C>T	ENST00000056233.3	+	4	1205	c.946C>T	c.(946-948)Cat>Tat	p.H316Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	316					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGTGAATCTTCATGAGGCCAT	0.413000													11	83					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53693951	53693951	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:53693951G>A	ENST00000267103.5	+	2	286	c.234G>A	c.(232-234)cgG>cgA	p.R78R	RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Silent_p.R54R|C12orf10_ENST00000549488.1_5'UTR	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	78										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGATTGTGCGGACCCGGGATC	0.612000											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	26					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47950794	47950794	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:47950794G>A	ENST00000426837.2	-	10	5255	c.5168C>T	c.(5167-5169)tCa>tTa	p.S1723L	MAP4_ENST00000264724.11_Missense_Mutation_p.S313L|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	587					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CGCCACCTCTGAAGGAGGAGC	0.433000													12	71					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740131	140740131	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:140740131C>T	ENST00000522605.1	+	1	429	c.429C>T	c.(427-429)ggC>ggT	p.G143G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.G143G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTGGCGAATCCACTA	0.373000													6	31					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861116	75861116	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:75861116G>A	ENST00000377636.3	-	21	4055	c.3709C>T	c.(3709-3711)Ctt>Ttt	p.L1237F	TBC1D4_ENST00000425511.1_Missense_Mutation_p.L401F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.L1229F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.L1174F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1237						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTCGTCAAAAGATTTTCCAGG	0.423000													9	54					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541235	2541235	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:2541235C>G	ENST00000288709.6	-	5	541	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	MMEL1_ENST00000378412.3_Missense_Mutation_p.E110Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E110Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	110					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TCACACGGTTCCGTGGTCGGG	0.602000													10	47					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100389787	100389787	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:100389787A>T	ENST00000341170.4	-	2	440	c.58T>A	c.(58-60)Ttt>Att	p.F20I	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	20										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGTCAGAAAATCTTAAAATG	0.383000													25	83					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203928	32203928	+	Splice_Site	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:32203928C>G	ENST00000373658.3	-	18	2987		c.e18-1		BAI2_ENST00000440175.2_Splice_Site|BAI2_ENST00000398542.1_Splice_Site|BAI2_ENST00000398556.3_Splice_Site|BAI2_ENST00000398538.1_Splice_Site|BAI2_ENST00000257070.4_Splice_Site|BAI2_ENST00000398547.1_Splice_Site|BAI2_ENST00000527361.1_Splice_Site|BAI2_ENST00000373655.2_Splice_Site	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGGCATCTCTTGGGTAGGG	0.612000													5	28					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145140309	145140309	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:145140309G>A	ENST00000355091.4	+	10	1499	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	GPAA1_ENST00000361036.6_Missense_Mutation_p.E400K	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	460					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGTGGCAGAGGCTGAGGC	0.632000													5	33					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646914	57646914	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:57646914G>A	ENST00000269834.1	-	5	1176	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGCAGGATGATTTCCAGGA	0.373000													9	82					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854209	40854209	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:40854209A>G	ENST00000255224.3	-	2	553	c.185T>C	c.(184-186)aTt>aCt	p.I62T	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.I44T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	62						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCAGGGTAAATATCAACTCC	0.383000													5	25					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28845984	28845984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:28845984G>A	ENST00000336783.4	+	18	2570	c.2403G>A	c.(2401-2403)atG>atA	p.M801I	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.M801I|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Missense_Mutation_p.M807I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.M801I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.M801I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.M801I|ATXN2L_ENST00000325215.6_Missense_Mutation_p.M801I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	801						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGCCAGCCATGATGCAGCCCA	0.652000													11	114					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242138775	242138775	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:242138775C>T	ENST00000274979.8	+	5	619	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ANO7_ENST00000402430.3_Silent_p.L171L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	172						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACGCCCTCCTCAGCGCCTCCT	0.652000													7	54					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42033559	42033559	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:42033559G>A	ENST00000220809.4	-	14	1897	c.1641C>T	c.(1639-1641)acC>acT	p.T547T	PLAT_ENST00000352041.3_Silent_p.T501T|PLAT_ENST00000524009.1_Silent_p.T458T|PLAT_ENST00000429710.2_Silent_p.T421T|PLAT_ENST00000519510.1_Silent_p.T484T|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000429089.2_Silent_p.T547T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	547	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGTAACCTTGGTGTACACAC	0.562000													4	40					0	0	1	0	0
UQCC2	84300	broad.mit.edu	37	6	33679404	33679404	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:33679404C>G	ENST00000607484.1	-	1	100	c.60G>C	c.(58-60)gaG>gaC	p.E20D	MNF1_ENST00000374214.3_Missense_Mutation_p.E20D	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		20																	CCCGTTTGGTCTCGTCCACTG	0.667000													11	41					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14276273	14276273	+	RNA	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:14276273G>C	ENST00000310358.7	+	0	1625							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGTGACCTATGAGGTGTGTGT	0.592000													6	43					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11024580	11024580	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:11024580G>A	ENST00000327064.4	+	6	887	c.697G>A	c.(697-699)Gac>Aac	p.D233N	CARM1_ENST00000344150.4_Missense_Mutation_p.D233N	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	233					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAACCTGACGGACCGCATCGT	0.612000													9	31					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639851	44639851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:44639851C>T	ENST00000372330.3	+	5	738	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	240	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GAGGGCCGCTCCTACTCTGCC	0.652000													35	150					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938885	938885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:938885C>A	ENST00000265846.5	-	10	1100	c.881G>T	c.(880-882)cGa>cTa	p.R294L	ADAP1_ENST00000449296.2_Missense_Mutation_p.R222L|ADAP1_ENST00000539900.1_Missense_Mutation_p.R305L	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	294	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GACTTCCCCTCGGGCGAAGGC	0.677000													7	80					0.0293803	0.0297011	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41277981	41277981	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:41277981G>C	ENST00000349496.5	+	12	2225	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E649Q|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E642Q|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E649Q|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E649Q	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	649					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCTAGGAATGAAGGTGTGGG	0.468000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				22	60					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898436	75898436	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:75898436G>C	ENST00000377636.3	-	11	2481	c.2135C>G	c.(2134-2136)tCt>tGt	p.S712C	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S712C|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	712	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTTCAGGAAAGAGGGGGCAGT	0.438000													5	39					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436212	11436212	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:11436212C>T	ENST00000222120.3	-	5	782	c.522G>A	c.(520-522)caG>caA	p.Q174Q	RAB3D_ENST00000589655.1_Silent_p.Q174Q|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	174					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCTCGAAGACCTGCTTCACAT	0.572000													15	71					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369411	19369411	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:19369411G>A	ENST00000291481.7	-	4	801	c.738C>T	c.(736-738)aaC>aaT	p.N246N	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	246	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCAGGCCCCCGTTGGCATCAC	0.701000													10	37					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64863289	64863289	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:64863289G>C	ENST00000328747.7	+	4	461	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	ZNF92_ENST00000357512.2_Missense_Mutation_p.E56Q|ZNF92_ENST00000450302.2_Missense_Mutation_p.E19Q|ZNF92_ENST00000431504.1_Missense_Mutation_p.E12Q	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	88						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TGTTTGGCCAGAGCACAGCAT	0.313000													4	26					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52946856	52946856	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:52946856T>C	ENST00000354452.3	-	9	1192	c.581A>G	c.(580-582)tAc>tGc	p.Y194C	TCF4_ENST00000544241.2_Missense_Mutation_p.Y123C|TCF4_ENST00000566279.1_Missense_Mutation_p.Y134C|TCF4_ENST00000561831.3_Missense_Mutation_p.Y34C|TCF4_ENST00000356073.4_Missense_Mutation_p.Y194C|TCF4_ENST00000540999.1_Missense_Mutation_p.Y170C|TCF4_ENST00000568673.1_Missense_Mutation_p.Y170C|TCF4_ENST00000564228.1_Missense_Mutation_p.Y123C|TCF4_ENST00000565018.2_Missense_Mutation_p.Y194C|TCF4_ENST00000567880.1_Missense_Mutation_p.Y134C|TCF4_ENST00000564403.2_Missense_Mutation_p.Y200C|TCF4_ENST00000568740.1_Missense_Mutation_p.Y169C|TCF4_ENST00000537856.3_Missense_Mutation_p.Y64C|TCF4_ENST00000561992.1_Missense_Mutation_p.Y64C|TCF4_ENST00000566286.1_Missense_Mutation_p.Y192C|TCF4_ENST00000570177.2_Missense_Mutation_p.Y64C|TCF4_ENST00000457482.3_Missense_Mutation_p.Y34C|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000543082.1_Missense_Mutation_p.Y152C|TCF4_ENST00000564999.1_Missense_Mutation_p.Y194C|TCF4_ENST00000537578.1_Missense_Mutation_p.Y170C|TCF4_ENST00000398339.1_Missense_Mutation_p.Y296C|TCF4_ENST00000570287.2_Missense_Mutation_p.Y34C	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	194					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTCCCTATTGTAGTCGGCAGT	0.493000													12	53					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371762	19371762	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:19371762C>A	ENST00000291481.7	-	3	407	c.344G>T	c.(343-345)cGg>cTg	p.R115L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	115	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CAGCTCAGCCCGCCCACGGTA	0.662000													11	67					4.68919e-08	5.01408e-08	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48697339	48697339	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:48697339G>A	ENST00000544264.1	-	1	3009	c.2729C>T	c.(2728-2730)tCa>tTa	p.S910L	CELSR3_ENST00000164024.4_Missense_Mutation_p.S910L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	910	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			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)		AATGGCTCCTGAGTCTGCATC	0.532000													11	74					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022685	31022685	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:31022685C>T	ENST00000375687.4	+	13	2594	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	ASXL1_ENST00000306058.5_Silent_p.L719L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	724					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCTGCCTTCTCTGAGAAAGGA	0.562000			"""F, N, Mis"""		"""MDS, CMML"""								3	22					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531917	150531917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:150531917G>T	ENST00000271643.4	+	17	3154	c.2918G>T	c.(2917-2919)cGa>cTa	p.R973L	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R973L|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R996L	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	973	TSP type-1 6.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCAGGACCGATGGTTTTCC	0.657000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	77					0.000673444	0.000702263	1	1	0
BACE1	23621	broad.mit.edu	37	11	117162484	117162484	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:117162484G>A	ENST00000313005.6	-	6	1346	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	BACE1_ENST00000528053.1_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R171C|BACE1_ENST00000513780.1_Missense_Mutation_p.R271C|BACE1_ENST00000445823.2_Missense_Mutation_p.R252C|BACE1_ENST00000428381.2_Missense_Mutation_p.R227C|BACE1_ENST00000392937.6_Missense_Mutation_p.R196C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	296					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TTGGGCAAACGAAGGTTGGTG	0.463000													10	69					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874797	20874797	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:20874797C>G	ENST00000381552.1	+	8	1203	c.835C>G	c.(835-837)Cta>Gta	p.L279V	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.L279V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.L230V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.L161V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.L279V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	279					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GCTTGGCTATCTAATAGCAGG	0.433000													8	29					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373412	140373412	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:140373412C>T	ENST00000072869.4	+	1	460	c.282C>T	c.(280-282)ttC>ttT	p.F94F	ADCK2_ENST00000476491.1_Silent_p.F94F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	94						integral to membrane	ATP binding|protein serine/threonine kinase activity	p.F94F(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCGGCGTCTTCCTGCATCTCC	0.701000													8	79					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551463	125551463	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:125551463G>C	ENST00000373680.2	+	1	314	c.252G>C	c.(250-252)aaG>aaC	p.K84N		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TCGGCCCCAAGATGCTAGTGG	0.582000													10	152					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302580	209302580	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:209302580C>T	ENST00000272847.2	+	4	598	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	129						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCTTCGCTTTCTGCAGCCAGA	0.388000													12	47					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128630742	128630742	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:128630742C>T	ENST00000371122.4	-	12	1740	c.1611G>A	c.(1609-1611)ccG>ccA	p.P537P	SMARCA1_ENST00000371123.1_Silent_p.P537P|SMARCA1_ENST00000371121.3_Silent_p.P537P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	537	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTCTTCATGCGGGGTTTGTC	0.378000													14	30					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122702824	122702824	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:122702824C>T	ENST00000464942.2	-	2	1538	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	DIABLO_ENST00000443649.3_Missense_Mutation_p.E102K|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000413918.1_Intron|DIABLO_ENST00000267169.6_Missense_Mutation_p.E49K|RP11-512M8.5_ENST00000535844.1_3'UTR	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	102					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAGTATATTCAGTAATAGCT	0.393000													10	56					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25043713	25043713	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:25043713C>T	ENST00000260600.5	-	20	3983	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.M631I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1044					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGCCTTTGTTCATGCCTAGGG	0.562000													11	51					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34118948	34118948	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:34118948A>C	ENST00000389232.4	+	84	11310	c.11240A>C	c.(11239-11241)aAc>aCc	p.N3747T	RYR3_ENST00000415757.3_Missense_Mutation_p.N3742T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3747					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		GAGGGACATAACAGTGGTGAG	0.428000													11	88					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689507	49689507	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:49689507G>A	ENST00000296452.4	+	5	2632	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	840					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTGACTGATGAGGATTTCAT	0.617000													6	36					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677996	38677996	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:38677996G>C	ENST00000379931.3	+	3	1613	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	TACC1_ENST00000519416.1_Missense_Mutation_p.E217Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E376Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.E412Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.E428Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E217Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E217Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E367Q			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	412	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCTCTTCTGAGGGCTCCTA	0.507000													29	151					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34647528	34647528	+	Missense_Mutation	SNP	G	G	T	rs111033670		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:34647528G>T	ENST00000378842.3	+	3	334	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	GALT_ENST00000450095.2_Intron|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	98			D -> N (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTTTGACAACGACTTCCCAGC	0.577000									Galactosemia				14	72					1.3612e-06	1.4389e-06	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059574	248059574	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:248059574G>A	ENST00000537741.1	+	3	943	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	OR2W3_ENST00000360358.3_Missense_Mutation_p.R229Q			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTACAAATTCGGTCAGCATCA	0.527000													28	117					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240319	27240319	+	Missense_Mutation	SNP	C	C	T	rs75738889		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:27240319C>T	ENST00000254227.3	-	1	138	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	38					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACATAGGCAGCGGCTACGGGG	0.657000													12	56					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204131252	204131252	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:204131252C>T	ENST00000367195.2	-	2	181	c.138G>A	c.(136-138)ctG>ctA	p.L46L	REN_ENST00000272190.8_Silent_p.L46L			P00797	RENI_HUMAN	renin	46					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTCGTTCCTTCAGGCTTTCTC	0.557000											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728939	167728939	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:167728939G>A	ENST00000230256.3	+	8	1548	c.1373G>A	c.(1372-1374)tGa>tAa	p.*458*	UNC93A_ENST00000366829.2_Silent_p.*416*	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	0						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAAAAATGTGAGAGCAGTGA	0.512000													10	91					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770629	18770629	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:18770629G>C	ENST00000380548.4	+	17	2586	c.2247G>C	c.(2245-2247)caG>caC	p.Q749H		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	749						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGTGTTCAGAAACGTGAGG	0.498000													6	19					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139937485	139937485	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:139937485C>G	ENST00000371600.3	-	1	1059	c.387G>C	c.(385-387)aaG>aaC	p.K129N	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Missense_Mutation_p.K51N			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	51						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TTGCCCGCCTCTTCAGGGCAC	0.692000													5	24					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42731607	42731607	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:42731607G>A	ENST00000263805.4	-	8	4425	c.4099C>T	c.(4099-4101)Cct>Tct	p.P1367S	ZNF106_ENST00000565611.1_Missense_Mutation_p.P552S|ZNF106_ENST00000565380.1_Missense_Mutation_p.P595S	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTATTCTCAGGAACATGGGCA	0.428000													18	121					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013088	75013088	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:75013088G>C	ENST00000379727.3	-	7	1479	c.1281C>G	c.(1279-1281)ttC>ttG	p.F427L	CYP1A1_ENST00000395049.4_Missense_Mutation_p.F398L|CYP1A1_ENST00000395048.2_Missense_Mutation_p.F427L|CYP1A1_ENST00000564596.1_3'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.F427L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	427					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GTTCAGGTAGGAACTCAGATG	0.522000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				8	99					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236228172	236228172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:236228172C>G	ENST00000264187.6	-	1	290	c.208G>C	c.(208-210)Gac>Cac	p.D70H	NID1_ENST00000366595.3_Missense_Mutation_p.D70H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	70					cell-matrix adhesion	basement membrane	calcium ion binding			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)	GCGTCGATGTCGGATCTGTCG	0.726000													3	17					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026404	27026404	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:27026404C>G	ENST00000354760.3	+	6	579	c.544C>G	c.(544-546)Cat>Gat	p.H182D	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	182	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTGGGGCTCTCATGCCCCGAC	0.587000													3	21					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020762	151020762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:151020762G>T	ENST00000368926.5	+	1	547	c.439G>T	c.(439-441)Gaa>Taa	p.E147*		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	147						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGGAGCCTGAAATCAGGCT	0.602000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	71					0.00448238	0.00459147	1	1	0
IQCG	84223	broad.mit.edu	37	3	197639596	197639596	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:197639596C>G	ENST00000265239.6	-	9	1337	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	IQCG_ENST00000455191.1_Missense_Mutation_p.E305Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	305										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTCCGGGCCTCTTCTTCGGTT	0.463000													25	126					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89499345	89499345	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:89499345G>A	ENST00000336596.2	+	15	2740	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E839K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	839	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCTGTAGATGAGGGCTATCG	0.498000										TSP Lung(6;0.00050)			5	36					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406192	103406192	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:103406192C>G	ENST00000361246.2	-	33	4972	c.4684G>C	c.(4684-4686)Gag>Cag	p.E1562Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1562					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1562K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCTCTTCCTCTGGGACCTTG	0.617000													27	243					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813640	123813640	+	Silent	SNP	T	T	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:123813640T>C	ENST00000321252.2	-	1	940	c.906A>G	c.(904-906)agA>agG	p.R302R		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAAGGCTTCTCTCAGTGCTT	0.473000													31	114					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68972947	68972947	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:68972947G>A	ENST00000288368.4	+	11	1549	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	424	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAATTGGAGAGATTCACAGGC	0.368000													9	64					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183536461	183536461	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:183536461G>A	ENST00000413720.1	-	7	872	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	NCF2_ENST00000418089.1_Missense_Mutation_p.H164Y|NCF2_ENST00000367536.1_Missense_Mutation_p.H245Y|NCF2_ENST00000367535.3_Missense_Mutation_p.H245Y	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	245					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCACACGGTGAGCCTCCCCT	0.532000													42	245					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906084	153906084	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:153906084G>A	ENST00000361217.4	-	20	3623	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGAGTGGCGGGAAGGAGTG	0.711000													3	19					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140400126	140400126	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:140400126C>T	ENST00000406427.1	-	14	1749	c.1413G>A	c.(1411-1413)agG>agA	p.R471R	PNPLA7_ENST00000277531.4_Silent_p.R446R|PNPLA7_ENST00000371457.1_Silent_p.R52R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	446				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CATCCGACTTCCTGCTGGCCA	0.602000													8	94					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99792988	99792988	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:99792988C>G	ENST00000426455.1	+	9	1331	c.924C>G	c.(922-924)gtC>gtG	p.V308V	STAG3_ENST00000317296.5_Silent_p.V308V|STAG3_ENST00000394018.2_Silent_p.V250V			Q9UJ98	STAG3_HUMAN	stromal antigen 3	308					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGGGGTGTCTTTGTTCATC	0.493000													9	40					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491460	62491460	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:62491460G>A	ENST00000301785.5	-	3	869	c.677C>T	c.(676-678)tCa>tTa	p.S226L	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.S226L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	226	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGAGACTTTGAGCTATATAT	0.418000													12	56					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70180045	70180045	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:70180045C>G	ENST00000288050.4	+	16	2833	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.L626V|PDPR_ENST00000398122.3_Missense_Mutation_p.L526V|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	626					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGCCCTCAATCTGATTGGCCC	0.488000													38	91					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687491	109687491	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:109687491G>A	ENST00000277225.5	+	3	1587	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	ZNF462_ENST00000457913.1_Missense_Mutation_p.R433K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	433					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTCCATTTAGAAGATTCATG	0.463000													20	70					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729694	41729694	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:41729694C>A	ENST00000242208.4	-	3	1081	c.835G>T	c.(835-837)Gca>Tca	p.A279S	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.A279S|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	279					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A279S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tctgctcctgccccaccttca	0.607000										TSP Lung(11;0.080)			23	55					3.62473e-10	3.93956e-10	1	1	0
NDC80	10403	broad.mit.edu	37	18	2589205	2589205	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:2589205G>A	ENST00000261597.4	+	9	948	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	256	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GTCTCCAGAGGATTTATTTAA	0.373000													12	44					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241621949	241621949	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:241621949G>A	ENST00000407834.3	-	1	368	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	90						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCGGCCATGAGGAACTCCT	0.697000													10	35					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810865	140810865	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:140810865C>T	ENST00000509479.2	-	2	2581	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MAML3_ENST00000398940.1_Missense_Mutation_p.M103I|MAML3_ENST00000327122.5_Missense_Mutation_p.M419I	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	571	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGATCATATTCATGTGATTCT	0.418000													24	279					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299900	145299900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:145299900C>T	ENST00000342960.5	+	6	984	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Nonsense_Mutation_p.Q46*	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	317										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGTCCGG	0.428000													17	132					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070017	57070017	+	Silent	SNP	G	G	A	rs138321958		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:57070017G>A	ENST00000532437.1	-	6	4910	c.4599C>T	c.(4597-4599)agC>agT	p.S1533S	TNKS1BP1_ENST00000358252.3_Silent_p.S1533S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1533	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.S1533S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCCCTGATCGCTCCACCTGG	0.642000													11	20					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491490	107491490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:107491490G>A	ENST00000415149.2	+	11	1249	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	BBX_ENST00000325805.8_Missense_Mutation_p.E308K|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.E308K|BBX_ENST00000402543.1_Missense_Mutation_p.E308K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCTGGCATCAGAAGGGATGAA	0.323000													5	26					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161277071	161277071	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:161277071C>T	ENST00000533357.1	-	2	277	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.E71K|MPZ_ENST00000360451.6_Missense_Mutation_p.E81K	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	71	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCCCCCTTCGGGCTGGTAG	0.552000													13	39					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10100690	10100690	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:10100690G>A	ENST00000382452.2	-	4	585	c.303C>T	c.(301-303)ttC>ttT	p.F101F	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000499869.2_Silent_p.F101F|WDR1_ENST00000502702.1_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	101					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TCTTCCCAGCGAAAGGCTGGT	0.577000													13	61					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868411	22868411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:22868411G>A	ENST00000302097.3	-	2	1796	c.1544C>T	c.(1543-1545)cCt>cTt	p.P515L		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		agaagaCTGAGGGTCAGTGTT	0.423000													5	52					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62396347	62396347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:62396347G>A	ENST00000346178.4	-	18	2155	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q595*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q600*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.Q692*	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	692					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCATTGTGCTGAGATGGTAAC	0.547000													12	113					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531445	43531445	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:43531445C>T	ENST00000220420.5	-	8	1028	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	TGM5_ENST00000349114.4_Missense_Mutation_p.E259K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	341					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATCCAGCACTCATTCCAGACA	0.547000													7	45					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774673	40774673	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:40774673T>C	ENST00000602553.1	-	5	896	c.602A>G	c.(601-603)aAg>aGg	p.K201R	ZNF658_ENST00000377626.3_Missense_Mutation_p.K201R|ZNF658_ENST00000441795.1_Missense_Mutation_p.K199R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGATCTTTCTTATAACTGAA	0.343000													7	28					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139580	75139580	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:75139580C>T	ENST00000539798.1	-	2	972	c.973G>A	c.(973-975)Gag>Aag	p.E325K	KLHL35_ENST00000376292.4_Missense_Mutation_p.E105K	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	105										lung(2)|stomach(1)	3						CGCTGGCTCTCTGGATGGTAG	0.627000													4	40					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141415723	141415723	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:141415723C>T	ENST00000389328.4	-	6	1269	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E312K|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E321K	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	321					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTATGTCTTCAGGGCTAAGG	0.413000													4	32					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86361965	86361965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:86361965C>T	ENST00000254630.7	+	21	1699	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	545						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTCTCAGCTTCAGGTGGCATT	0.458000													7	92					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82895896	82895896	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:82895896C>T	ENST00000298281.4	+	16	5080	c.4628C>T	c.(4627-4629)tCt>tTt	p.S1543F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1543					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAACACCCTCTGAAATTAAA	0.378000													3	11					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553557	39553557	+	Silent	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:39553557G>T	ENST00000251645.2	-	1	287	c.235C>A	c.(235-237)Cgg>Agg	p.R79R		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	79	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCGTTGTCCCGCTCCAGCTGA	0.582000													18	80					6.94344e-10	7.52884e-10	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75230537	75230537	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:75230537C>G	ENST00000325680.7	+	1	469	c.345C>G	c.(343-345)ctC>ctG	p.L115L	YLPM1_ENST00000238571.3_Silent_p.L115L|YLPM1_ENST00000552421.1_Silent_p.L115L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	115	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				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)		GGCCGGCCCTCAGCTATCAGA	0.682000													11	83					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098954	178098954	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:178098954C>T	ENST00000397062.3	-	2	645	c.91G>A	c.(91-93)Gga>Aga	p.G31R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CGACTTACTCCAAGATCTATA	0.358000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	22					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45821717	45821717	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:45821717G>A	ENST00000177694.1	+	4	1136	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	309					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGAATGCCGAGGTGAGGGC	0.592000													5	81					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124181655	124181655	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:124181655C>T	ENST00000303372.5	+	13	1543	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	TCTN2_ENST00000426174.2_Missense_Mutation_p.S471L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	472					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGTGTACATCAGCAACTTTC	0.358000													15	81					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95237074	95237074	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:95237074C>G	ENST00000375544.3	-	2	349	c.106G>C	c.(106-108)Gac>Cac	p.D36H	ASPN_ENST00000395538.3_Missense_Mutation_p.D36H|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Missense_Mutation_p.D8H|ASPN_ENST00000375543.1_Missense_Mutation_p.D36H	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	36	Poly-Asp.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						tcatcTGTGTCTTCCATATCC	0.413000													4	19					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73566132	73566132	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:73566132C>G	ENST00000261973.7	+	8	1059	c.774C>G	c.(772-774)ctC>ctG	p.L258L	RBM25_ENST00000540173.1_Silent_p.L258L|RBM25_ENST00000527432.1_Silent_p.L258L|RBM25_ENST00000526754.1_Silent_p.L258L|RBM25_ENST00000525321.1_Silent_p.L258L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	258					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTTATCCACTCATCACTAAGG	0.348000													8	54					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43214493	43214493	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:43214493G>C	ENST00000431281.1	+	7	871	c.402G>C	c.(400-402)ctG>ctC	p.L134L	ACBD4_ENST00000592162.1_Silent_p.L134L|ACBD4_ENST00000591859.1_Silent_p.L134L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Silent_p.L134L|ACBD4_ENST00000376955.4_Silent_p.L134L|ACBD4_ENST00000321854.8_Silent_p.L134L|ACBD4_ENST00000398322.3_Silent_p.L134L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	134							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						AGACCTTCCTGAGAAGGGTCA	0.607000													5	38					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95849043	95849043	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:95849043G>A	ENST00000371375.1	+	1	192	c.192G>A	c.(190-192)ttG>ttA	p.L64L	PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Silent_p.L64L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGCTGTCTTGAAGGTTGGTT	0.532000													24	112					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215821435	215821435	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:215821435T>C	ENST00000272895.7	-	42	6404	c.6185A>G	c.(6184-6186)tAc>tGc	p.Y2062C	ABCA12_ENST00000389661.4_Missense_Mutation_p.Y1744C|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2062					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTTCACTGTAGAATGCAGG	0.363000													14	39					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33619658	33619658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:33619658C>T	ENST00000265371.4	-	3	751	c.226G>A	c.(226-228)Gat>Aat	p.D76N	NRP1_ENST00000395995.1_Missense_Mutation_p.D76N|NRP1_ENST00000374816.3_Missense_Mutation_p.D76N|NRP1_ENST00000374821.5_Missense_Mutation_p.D76N|NRP1_ENST00000374822.4_Missense_Mutation_p.D76N|NRP1_ENST00000374823.5_Missense_Mutation_p.D76N|NRP1_ENST00000374867.2_Missense_Mutation_p.D76N			O14786	NRP1_HUMAN	neuropilin 1	76	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCCTCCAAATCGAAGTGAGGG	0.488000													3	26					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28998072	28998072	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:28998072G>C	ENST00000524189.1	-	20	2435	c.2397C>G	c.(2395-2397)ctC>ctG	p.L799L	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	799					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCACCCCAATGAGACTGTGAT	0.413000													5	20					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640572	104640572	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:104640572G>C	ENST00000304883.2	-	1	401	c.261C>G	c.(259-261)ctC>ctG	p.L87L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	87						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCAGGGACCAGAGCGCGATGC	0.642000													34	71					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56171335	56171335	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:56171335C>T	ENST00000361673.3	-	11	6288	c.6075G>A	c.(6073-6075)ccG>ccA	p.P2025P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2025	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTAGCATACGGGATATTGT	0.458000													15	122					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39306815	39306815	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:39306815C>T	ENST00000263408.4	-	9	1415	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	440	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTTTTCTTTCAGTTCAAATG	0.393000													9	50					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31099813	31099813	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:31099813G>C	ENST00000318217.5	-	5	916	c.612C>G	c.(610-612)ttC>ttG	p.F204L	MYO1D_ENST00000583621.1_Missense_Mutation_p.F204L|MYO1D_ENST00000394649.4_Missense_Mutation_p.F116L|MYO1D_ENST00000579584.1_Missense_Mutation_p.F204L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	204	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TAACCTGATAGAAAGAATGAA	0.383000													18	93					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657927	657927	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:657927C>T	ENST00000255622.6	+	17	2089	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	PDE6B_ENST00000429163.2_Silent_p.I403I|PDE6B_ENST00000496514.1_Silent_p.I682I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	682					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TTCAGAAGATCGTGGATGAGT	0.607000													13	67					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225957	9225957	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:9225957C>T	ENST00000293614.1	-	1	482	c.483G>A	c.(481-483)ctG>ctA	p.L161L	OR7G1_ENST00000541538.1_Silent_p.L161L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GCAATACCATCAGACTCTGAA	0.478000													6	49					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586538	10586538	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:10586538G>A	ENST00000265012.4	+	1	560	c.316G>A	c.(316-318)Gac>Aac	p.D106N	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	106						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CATCCATAAGGACTTTGACAC	0.473000													14	72					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231177334	231177334	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:231177334G>C	ENST00000392045.3	+	27	2653	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.E787Q|SP140_ENST00000350136.5_Missense_Mutation_p.E716Q|SP140_ENST00000417495.3_Missense_Mutation_p.E733Q|SP140_ENST00000420434.3_Missense_Mutation_p.E820Q	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	847					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTTAGACTGGAGGCTGAGTT	0.378000													15	63					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102839230	102839230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:102839230C>T	ENST00000504592.1	+	11	1463	c.1045C>T	c.(1045-1047)Caa>Taa	p.Q349*	BANK1_ENST00000322953.4_Nonsense_Mutation_p.Q364*|BANK1_ENST00000508653.1_Nonsense_Mutation_p.Q231*|BANK1_ENST00000444316.2_Nonsense_Mutation_p.Q334*|BANK1_ENST00000428908.1_Nonsense_Mutation_p.Q231*			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	364					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCATTTGCTTCAATGTTCAGG	0.403000													5	25					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63223867	63223867	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:63223867G>A	ENST00000263991.5	+	21	3764	c.3282G>A	c.(3280-3282)ctG>ctA	p.L1094L	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Silent_p.L1023L|EHBP1_ENST00000431489.1_Silent_p.L1023L|EHBP1_ENST00000405289.1_Silent_p.L1059L|EHBP1_ENST00000354487.3_Silent_p.L1059L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1094						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTGCCGCGCTGGTGGAGAAGC	0.458000													12	60					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640755	36640755	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:36640755C>G	ENST00000373448.2	-	3	1702	c.1464G>C	c.(1462-1464)ttG>ttC	p.L488F	TTI1_ENST00000373447.3_Missense_Mutation_p.L488F|TTI1_ENST00000449821.1_Missense_Mutation_p.L488F|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	488							binding			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						AAACCTGCCTCAAGAGCATGA	0.438000													17	59					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49952452	49952452	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:49952452C>T	ENST00000550165.1	-	16	1629	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MCRS1_ENST00000343810.4_Missense_Mutation_p.E455K|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.E264K|MCRS1_ENST00000357123.4_Missense_Mutation_p.E468K			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	455					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.E468Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTGGCAGCCTCAGCCCTGATG	0.602000													6	60					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603666	37603666	+	Silent	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:37603666C>A	ENST00000328544.3	-	2	710	c.177G>T	c.(175-177)ctG>ctT	p.L59L	SSTR3_ENST00000402501.1_Silent_p.L59L	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	59					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AGTTACCCAGCAGGCCCACCA	0.662000													16	95					9.16793e-09	9.87151e-09	1	1	0
REN	5972	broad.mit.edu	37	1	204131262	204131262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:204131262C>T	ENST00000367195.2	-	2	171	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	REN_ENST00000272190.8_Missense_Mutation_p.R43Q			P00797	RENI_HUMAN	renin	43					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGGCTTTCTCGGATTGAGGG	0.567000											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	36					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422260	47422260	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:47422260C>G	ENST00000361866.3	+	32	2309	c.2195C>G	c.(2194-2196)tCa>tGa	p.S732*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	732	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			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)	GACGGGCGCTCAGACACTCAG	0.711000													5	17					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145150777	145150777	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:145150777G>A	ENST00000318911.4	+	2	244	c.171G>A	c.(169-171)cgG>cgA	p.R57R		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	57					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGAGGCCGGAAAGTGATGC	0.657000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	83					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643911	64643911	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:64643911G>C	ENST00000371079.1	+	9	2562	c.2187G>C	c.(2185-2187)tgG>tgC	p.W729C	ROR1_ENST00000545203.1_Missense_Mutation_p.W180C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	729	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGAGTGCTGGAATGAGATTC	0.488000													14	47					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201219	71201219	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:71201219G>A	ENST00000273936.4	+	1	522	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	155						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGAGATGCAGAGATCTCAAT	0.413000													9	30					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812189	68812189	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:68812189G>C	ENST00000508048.1	-	2	144	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.L38V|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.L38V|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	38					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AAGTGAACCAGGAGACCTATG	0.398000													9	35					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230733	75230733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:75230733C>T	ENST00000325680.7	+	1	665	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q181*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q181*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	26	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				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)		GACCTCATCTCAGCCCTACCT	0.622000													16	53					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9828902	9828902	+	Silent	SNP	C	C	T	rs142136289		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:9828902C>T	ENST00000343450.2	-	5	1234	c.687G>A	c.(685-687)ctG>ctA	p.L229L	TADA3_ENST00000440161.1_Silent_p.L229L|TADA3_ENST00000301964.2_Silent_p.L229L	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	229					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGTTCGGTCAGTGGCCCCA	0.622000											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	112					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268346	25268346	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:25268346G>C	ENST00000328086.7	-	1	906	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATCCTTCCAGAATGGGCTCT	0.532000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	71					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171289034	171289034	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:171289034G>A	ENST00000367749.3	+	3	400	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	24					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTGTGGATGAGGACCTGGA	0.483000													38	163					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24464291	24464291	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:24464291C>T	ENST00000335125.6	+	3	483	c.357C>T	c.(355-357)gtC>gtT	p.V119V	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Silent_p.V119V|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Silent_p.V18V|DHRS4L2_ENST00000397071.1_Silent_p.V119V|DHRS4L2_ENST00000382755.4_Silent_p.V117V	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ATGCTGCTGTCAACCCTTTCT	0.537000													62	388					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102656399	102656399	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:102656399G>C	ENST00000251808.3	+	13	1896	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Missense_Mutation_p.E504Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	520						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCCCATGGAAGAGGAGTTTGG	0.493000													9	29					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69986996	69986996	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:69986996C>T	ENST00000352241.4	+	3	541	c.378C>T	c.(376-378)ccC>ccT	p.P126P	MITF_ENST00000328528.6_Silent_p.P125P|MITF_ENST00000531774.1_Silent_p.P19P|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000472437.1_Silent_p.P74P|MITF_ENST00000394355.2_Silent_p.P101P|MITF_ENST00000448226.2_Silent_p.P126P|MITF_ENST00000314557.6_Silent_p.P19P|MITF_ENST00000314589.5_Silent_p.P110P|MITF_ENST00000394351.3_Silent_p.P19P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	126					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCGAAAACCCCACCAAGTACC	0.483000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						6	27					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100188902	100188902	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:100188902G>A	ENST00000376387.4	+	5	692	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	168					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTACGATGTTGAAGATGGTCA	0.388000													13	41					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652606	41652606	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:41652606C>G	ENST00000313860.7	+	13	1916	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	LIMCH1_ENST00000503057.1_Missense_Mutation_p.S1006C|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S455C|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S450C|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S455C|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S621C|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S462C|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S462C|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S621C|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S467C|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S621C|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S609C	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	621					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAGCCAAACTCTGTTCCCCAA	0.453000													3	24					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100236	117100236	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:117100236C>G	ENST00000320934.3	-	3	955	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	109					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCCTCCACCTCCAGGGCCGGC	0.662000			T	IGH@	MLCLS								18	60					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126124	8126124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:8126124C>A	ENST00000223145.5	+	8	2157	c.1600C>A	c.(1600-1602)Cag>Aag	p.Q534K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	534										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGGAACTGCAGGGTGAGGA	0.537000													14	256					0.00185496	0.00192566	1	1	0
RUFY4	285180	broad.mit.edu	37	2	218947866	218947866	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:218947866G>C	ENST00000374155.3	+	10	1859	c.1449G>C	c.(1447-1449)caG>caC	p.Q483H	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.Q463H			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	463							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGGCACAGCTGGAGCAGA	0.597000													8	36					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946407	138946407	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:138946407C>G	ENST00000288561.8	+	6	1315	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E	UBN2_ENST00000473989.2_Missense_Mutation_p.Q439E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	439										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTACACTTCTCAGGTTATGCC	0.468000													14	53					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5929939	5929939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:5929939C>G	ENST00000380094.5	-	2	949	c.406G>C	c.(406-408)Gat>Cat	p.D136H	ANKRD16_ENST00000380092.4_Missense_Mutation_p.D136H|ANKRD16_ENST00000191063.8_Missense_Mutation_p.D136H	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	136										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TTCCAGCCATCTTTGTTCTTC	0.552000													8	75					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	446389	446389	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:446389G>A	ENST00000512944.1	+	2	258	c.69G>A	c.(67-69)ccG>ccA	p.P23P	EXOC3_ENST00000315013.5_Silent_p.P23P|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	34					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCAGCGCCCGGACCAGCTGG	0.607000													7	48					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2130194	2130194	+	Silent	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:2130194G>T	ENST00000219476.3	+	30	4056	c.3426G>T	c.(3424-3426)ctG>ctT	p.L1142L	TSC2_ENST00000568454.1_Silent_p.L1109L|TSC2_ENST00000439673.2_Silent_p.L1062L|TSC2_ENST00000401874.2_Silent_p.L1098L|TSC2_ENST00000350773.4_Silent_p.L1142L|TSC2_ENST00000382538.6_Silent_p.L1050L|TSC2_ENST00000353929.4_Silent_p.L1099L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1142					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTGGCGCCCTGGACGTGCCGG	0.622000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				11	187					3.86212e-05	4.064e-05	1	1	0
QRICH2	84074	broad.mit.edu	37	17	74283961	74283961	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:74283961C>T	ENST00000262765.5	-	6	3497	c.3318G>A	c.(3316-3318)agG>agA	p.R1106R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1106							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTTCCAGGATCCTCTGCAGCC	0.562000													24	68					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656906	87656906	+	Silent	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:87656906T>A	ENST00000320005.5	-	9	1046	c.999A>T	c.(997-999)tcA>tcT	p.S333S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	333					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTCAAAAAATGAAGTGTACT	0.264000													7	14					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73206069	73206069	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:73206069C>T	ENST00000245544.4	+	3	350	c.279C>T	c.(277-279)tcC>tcT	p.S93S	NUP85_ENST00000579298.1_Silent_p.S93S|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.S47S	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	93					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTGGAAAATCCAGAAAATCTC	0.393000													5	48					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795746	99795746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:99795746G>A	ENST00000426455.1	+	12	1608	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	STAG3_ENST00000317296.5_Missense_Mutation_p.D401N|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.D343N			Q9UJ98	STAG3_HUMAN	stromal antigen 3	401				D -> S (in Ref. 1; CAB59367).	chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGAGAGTATGATGTGGCAGT	0.478000													7	73					0	0	1	0	0
MMADHC	27249	broad.mit.edu	37	2	150435959	150435959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:150435959C>T	ENST00000428879.1	-	3	862	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	MMADHC_ENST00000303319.5_Missense_Mutation_p.V120M|MMADHC_ENST00000422782.2_Missense_Mutation_p.V120M			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	120						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						AATTCATTCACATATTGTGCC	0.323000													8	26					0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22999962	22999962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:22999962G>A	ENST00000432176.2	-	10	1136	c.904C>T	c.(904-906)Caa>Taa	p.Q302*	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Nonsense_Mutation_p.Q302*	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	302						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATTTCAACTTGAATACACCTT	0.373000													27	89					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832119	44832119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:44832119G>A	ENST00000354340.4	-	4	2242	c.2191C>T	c.(2191-2193)Caa>Taa	p.Q731*	ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q737*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q754*	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGATGACCTTGAAGATATGCT	0.458000													8	144					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522731	97522731	+	Silent	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:97522731T>A	ENST00000375315.2	+	1	666	c.666T>A	c.(664-666)acT>acA	p.T222T	C9orf3_ENST00000297979.5_Silent_p.T222T|C9orf3_ENST00000277198.2_Silent_p.T222T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	222					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCTTTGACACTGACACTTGGA	0.502000													6	25					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39125691	39125691	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:39125691G>C	ENST00000545173.2	+	7	634	c.558G>C	c.(556-558)caG>caC	p.Q186H	EIF3K_ENST00000538434.1_Missense_Mutation_p.Q99H|EIF3K_ENST00000593149.1_Missense_Mutation_p.Q99H|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000592558.1_Missense_Mutation_p.Q160H|EIF3K_ENST00000248342.4_Missense_Mutation_p.Q186H			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	186					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTCGGGGCAGATCTTCATCT	0.547000											OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	82					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136068169	136068169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:136068169C>T	ENST00000383202.2	-	29	3358	c.3102G>A	c.(3100-3102)atG>atA	p.M1034I	STAG1_ENST00000536929.1_Missense_Mutation_p.M618I|STAG1_ENST00000434713.2_Missense_Mutation_p.M774I|STAG1_ENST00000236698.5_Missense_Mutation_p.M1034I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1034					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCTTTCCATCATCTGCTCGG	0.398000													7	43					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349877	31349877	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:31349877G>C	ENST00000336798.7	-	1	1710	c.218C>G	c.(217-219)tCt>tGt	p.S73C	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Missense_Mutation_p.S131C			O75056	SDC3_HUMAN	syndecan 3	131						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCGCTCAGAGGGGAGCTC	0.652000													6	34					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99811374	99811374	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:99811374C>A	ENST00000426455.1	+	33	4021	c.3614C>A	c.(3613-3615)tCt>tAt	p.S1205Y	GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.S1205Y|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S1147Y|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1205					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTAGCTACTCTTCCACCAGT	0.468000													13	97					0.00185496	0.00192566	1	1	0
DLST	1743	broad.mit.edu	37	14	75368921	75368921	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:75368921A>T	ENST00000334220.4	+	15	1311	c.1250A>T	c.(1249-1251)tAc>tTc	p.Y417F	DLST_ENST00000334212.6_Missense_Mutation_p.Y331F	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	417					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CCCATGATGTACGTGGCACTG	0.542000													6	23					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1463777	1463777	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:1463777C>T	ENST00000308219.9	+	5	857	c.471C>T	c.(469-471)atC>atT	p.I157I	BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000382179.1_Silent_p.I203I|BRSK2_ENST00000531197.1_Silent_p.I157I|BRSK2_ENST00000528841.1_Silent_p.I157I|BRSK2_ENST00000528710.1_Silent_p.I97I|BRSK2_ENST00000526678.1_Silent_p.I157I|BRSK2_ENST00000308230.5_Silent_p.I157I	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	157	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACATCCGCATCGCAGACTTTG	0.622000													6	43					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89477703	89477703	+	Missense_Mutation	SNP	C	C	G	rs112883001		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:89477703C>G	ENST00000370481.4	-	7	1096	c.876G>C	c.(874-876)gaG>gaC	p.E292D		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	292						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCACTAGGCTCTCTAGACCTA	0.438000													7	15					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047885	42047885	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:42047885C>T	ENST00000372584.1	-	3	3598	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E862K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E862K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E862K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	862	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E862K(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCAGGCTCCTCAGTTACTAGG	0.622000													15	109					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759712	94759712	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:94759712G>C	ENST00000450979.2	+	1	1291	c.991G>C	c.(991-993)Gag>Cag	p.E331Q		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	331					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CGAGAGTTATGAGCTCTGGAA	0.502000													4	4					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2235650	2235650	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:2235650C>G	ENST00000301364.4	-	8	2388	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	437	Glu-rich.				ribosome assembly	nucleolus	protein binding	p.E437K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCACTACTCTCATCCTGTAGA	0.378000													10	34					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4708950	4708950	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:4708950G>C	ENST00000540757.2	+	8	937	c.777G>C	c.(775-777)caG>caC	p.Q259H	DYRK4_ENST00000010132.5_Missense_Mutation_p.Q259H|DYRK4_ENST00000543431.1_Missense_Mutation_p.Q259H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	259	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATGAACACCAGAAAGGTGAGC	0.443000													5	55					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021236	51021236	+	Silent	SNP	G	G	A	rs11552705		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:51021236G>A	ENST00000599957.1	-	3	1931	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	LRRC4B_ENST00000389201.3_Silent_p.I578I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	578						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGCAGCCGATGATGATTTTGG	0.617000													8	48					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36156570	36156570	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:36156570G>T	ENST00000378660.1	+	10	1437	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	CHDC2_ENST00000313548.4_Missense_Mutation_p.V417L					calponin homology domain containing 2																		TGACTTTGACGTGGAAATACA	0.294000													3	8					2.56e-06	2.69995e-06	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:42047774C>T	ENST00000372584.1	-	3	3709	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622000													11	92					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921539	25921539	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:25921539C>G	ENST00000377850.3	-	4	866	c.342G>C	c.(340-342)ggG>ggC	p.G114G	SLC17A2_ENST00000360488.3_Silent_p.G114G|SLC17A2_ENST00000265425.3_Silent_p.G114G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	114					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAAATATCCCTGCTAAAT	0.448000													4	54					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869259	201869259	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:201869259C>T	ENST00000367288.4	-	2	1128	c.882G>A	c.(880-882)caG>caA	p.Q294Q		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	294					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACTGGGCGTCTGTTTCTCGG	0.512000													5	52					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407485	9407485	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:9407485C>G	ENST00000591998.1	-	6	823	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.E199Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCACACTCATGGCATTCA	0.418000													8	79					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159772521	159772521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:159772521C>T	ENST00000264433.6	+	8	851	c.776C>T	c.(775-777)tCt>tTt	p.S259F	FNIP2_ENST00000379346.3_Missense_Mutation_p.S282F	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	259	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCAAGCTCCTCTACATCTTCT	0.453000													38	180					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844599	106844599	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:106844599G>C	ENST00000276185.4	+	16	3429	c.3429G>C	c.(3427-3429)gaG>gaC	p.E1143D				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1143						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CGCAGCTGGAGAGCACACCCA	0.627000													8	13					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52613604	52613604	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:52613604A>G	ENST00000399231.3	-	37	5071	c.4828T>C	c.(4828-4830)Tac>Cac	p.Y1610H	MYO5A_ENST00000358212.6_Missense_Mutation_p.Y1635H|MYO5A_ENST00000553916.1_Missense_Mutation_p.Y1608H|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y1607H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y1583H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1610	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGCTGCTGGTAGATCTGAATG	0.522000													14	80					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52613643	52613643	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:52613643C>G	ENST00000399231.3	-	37	5032	c.4789G>C	c.(4789-4791)Gag>Cag	p.E1597Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.E1622Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1595Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1594Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1570Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1597	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCCGATACTCAGCCAGGTCA	0.488000													14	83					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32766952	32766952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:32766952G>C	ENST00000328834.5	+	9	1189	c.873G>C	c.(871-873)ttG>ttC	p.L291F	CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000538368.1_Missense_Mutation_p.L63F|CNOT10_ENST00000454516.2_Missense_Mutation_p.L351F|CNOT10_ENST00000331889.6_Missense_Mutation_p.L291F	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	291					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GTGAATGCTTGAGATGCATGT	0.373000													14	86					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203063	32203063	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:32203063C>T	ENST00000373658.3	-	20	3287	c.2946G>A	c.(2944-2946)ctG>ctA	p.L982L	BAI2_ENST00000440175.2_Silent_p.L624L|BAI2_ENST00000398542.1_Silent_p.L915L|BAI2_ENST00000398556.3_Silent_p.L930L|BAI2_ENST00000398538.1_Silent_p.L970L|BAI2_ENST00000257070.4_Silent_p.L982L|BAI2_ENST00000398547.1_Silent_p.L915L|BAI2_ENST00000527361.1_Silent_p.L982L|BAI2_ENST00000373655.2_Silent_p.L982L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	982					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCACGAGGATCAGGATGTTGG	0.612000													8	44					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:61488812C>G	ENST00000335351.3	-	4	1265	c.1173G>C	c.(1171-1173)caG>caC	p.Q391H	TCFL5_ENST00000217162.5_Missense_Mutation_p.Q343H	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572000													26	107					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153937	5153937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:5153937G>C	ENST00000252321.3	+	1	853	c.624G>C	c.(622-624)gaG>gaC	p.E208D		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	208						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGGGGGACGAGGCCATGGAGC	0.622000													11	48					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205241022	205241022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:205241022G>A	ENST00000358024.3	+	5	2289	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.V556M|TMCC2_ENST00000329800.7_Missense_Mutation_p.V394M|TMCC2_ENST00000330675.7_Missense_Mutation_p.V409M	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	634						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTGGAGGGCGTGGAGAATGC	0.647000													22	101					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17549980	17549980	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:17549980G>C	ENST00000253692.7	-	3	1747	c.83C>G	c.(82-84)tCt>tGt	p.S28C	TBC1D5_ENST00000446818.2_Missense_Mutation_p.S28C|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S28C	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	28						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGACTTGTTAGAGTAACTGGA	0.458000													6	86					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474669	42474669	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:42474669C>G	ENST00000545399.1	-	17	2481	c.2328G>C	c.(2326-2328)aaG>aaC	p.K776N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K774N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K733N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K763N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	763					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CAATGGACTTCTTTAGGTTGT	0.617000													8	65					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54675622	54675622	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:54675622C>G	ENST00000605337.1	+	4	698	c.650C>G	c.(649-651)tCt>tGt	p.S217C	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000360840.5_Missense_Mutation_p.S217C|MRPL37_ENST00000336230.6_Splice_Site_p.S86_splice			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	217					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTTTTAGAGTCTCTTCTCCTT	0.507000													11	50					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373447	86373447	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:86373447C>G	ENST00000604798.1	-	8	2261	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	MGAT4C_ENST00000552808.2_Missense_Mutation_p.E353Q|MGAT4C_ENST00000548651.1_Missense_Mutation_p.E353Q|MGAT4C_ENST00000332156.1_Missense_Mutation_p.E353Q|MGAT4C_ENST00000393205.2_Missense_Mutation_p.E382Q|MGAT4C_ENST00000549405.2_Missense_Mutation_p.E353Q			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	353					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			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						TCATAATTTTCAAACACATTC	0.403000													8	21					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945713	43945713	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:43945713G>A	ENST00000389420.3	-	1	11	c.12C>T	c.(10-12)gcC>gcT	p.A4A	ADAMTS20_ENST00000553158.1_Silent_p.A4A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	4						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCCACTTGGCCACCCACA	0.652000													12	44					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761387	96761387	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:96761387C>T	ENST00000295266.4	+	1	149	c.86C>T	c.(85-87)tCa>tTa	p.S29L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	29					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CGTAACTCCTCAAATGACGCT	0.512000													6	37					0	0	1	0	0
APOPT1	84334	broad.mit.edu	37	14	104056517	104056517	+	Splice_Site	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:104056517G>A	ENST00000409074.2	+	5	516		c.e5-1		APOPT1_ENST00000247618.4_Splice_Site|APOPT1_ENST00000556253.2_Splice_Site|APOPT1_ENST00000477116.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Intron	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		TTTCTCTACAGAGATTGGTAC	0.502000													20	103					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689447	49689447	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:49689447G>C	ENST00000296452.4	+	5	2572	c.2458G>C	c.(2458-2460)Gag>Cag	p.E820Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	820					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACAGCAGTGAGGGTGGCCT	0.617000													5	26					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14015691	14015691	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:14015691C>G	ENST00000454313.1	-	2	73	c.15G>C	c.(13-15)aaG>aaC	p.K5N	C19orf57_ENST00000591586.1_Missense_Mutation_p.K5N|C19orf57_ENST00000586783.1_Missense_Mutation_p.K5N|C19orf57_ENST00000346736.2_Missense_Mutation_p.K5N			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	5					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCCGCAGCTTCTTCCTCTTAG	0.408000													16	97					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73317779	73317779	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:73317779G>T	ENST00000392562.1	-	5	1211	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GRB2_ENST00000316804.5_Missense_Mutation_p.N143K|GRB2_ENST00000392564.1_Missense_Mutation_p.N143K|GRB2_ENST00000316615.5_Missense_Mutation_p.N102K|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.N102K|GRB2_ENST00000578961.1_Intron			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	143	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	ATATCTGCTGGTTTCTGGAGA	0.473000													15	52					1.15088e-07	1.22215e-07	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177116677	177116677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:177116677G>A	ENST00000280191.2	-	1	145	c.37C>T	c.(37-39)Cag>Tag	p.Q13*		NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	13					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GCCGCAGTCTGTGTCAAATAC	0.617000													11	43					0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7980948	7980948	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:7980948C>G	ENST00000377507.3	-	8	881	c.715G>C	c.(715-717)Gat>Cat	p.D239H		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	239	Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CTACAGCCATCTTCCTCTTGA	0.353000													23	76					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669540	234669540	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:234669540C>A	ENST00000360418.3	+	1	607	c.607C>A	c.(607-609)Cac>Aac	p.H203N	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.H203N|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		203					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCATTCAGATCACATGACCTT	0.522000													19	141					2.4624e-09	2.65755e-09	1	1	0
C10orf91	170393	broad.mit.edu	37	10	134261464	134261464	+	Missense_Mutation	SNP	G	G	A	rs148042339		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:134261464G>A	ENST00000392630.3	+	3	398	c.337G>A	c.(337-339)Gat>Aat	p.D113N	C10orf91_ENST00000321248.2_Missense_Mutation_p.D113N	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	113										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TCCCGTGGTAGATCAAGCCTC	0.672000													15	109					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210598	37210598	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:37210598C>G	ENST00000585696.1	+	3	2109	c.879C>G	c.(877-879)ctC>ctG	p.L293L	ZNF567_ENST00000360729.4_Silent_p.L293L|ZNF567_ENST00000588311.1_Silent_p.L293L|ZNF567_ENST00000392163.2_Silent_p.L293L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.L324L			Q8N184	ZN567_HUMAN	zinc finger protein 567	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACAGCCCTCACTGATCATC	0.438000													3	25					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537620	28537620	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:28537620G>A	ENST00000401766.2	-	10	1874	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SLC6A4_ENST00000261707.3_Silent_p.F454F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	454					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGACGTGTGGGAACTCATCCA	0.592000													12	89					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573387	136573387	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:136573387C>T	ENST00000446465.2	+	2	713	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.H29Y|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	29						Golgi apparatus|integral to membrane											ATATACTTCTCATTATCCCCA	0.373000													17	95					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44630506	44630506	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:44630506C>T	ENST00000299957.6	+	6	1092	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.L265F	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	265						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AGTTGATGATCTTCCCCCTGG	0.378000													5	16					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2089978	2089978	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:2089978G>A	ENST00000219066.1	-	6	904	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	296					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						GCGTGGCAGCGAGGGTGCACA	0.677000								Base excision repair (BER), DNA glycosylases					10	52					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10132087	10132087	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:10132087G>C	ENST00000591589.1	+	5	942	c.753G>C	c.(751-753)gtG>gtC	p.V251V	RDH8_ENST00000171214.1_Silent_p.V231V			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	231					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TTTGCTCCGTGGGACAGAACC	0.617000													13	74					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47381535	47381535	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:47381535C>T	ENST00000378538.3	-	3	421	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SPI1_ENST00000227163.4_Missense_Mutation_p.E68K|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.E67K	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	67					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E61K(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AAGTTGTTCTCGGCGAAGCTC	0.627000													6	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395885	179395885	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:179395885C>T	ENST00000589042.1	-	358	105681	c.105457G>A	c.(105457-105459)Gat>Aat	p.D35153N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33512N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26213N|TTN_ENST00000342992.6_Missense_Mutation_p.D32585N|TTN_ENST00000342175.6_Missense_Mutation_p.D26280N|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26088N|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33512							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D32583N(1)|p.D26088N(1)|p.D26280N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTCACCATCGGTGTCACAA	0.502000													39	161					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420144	216420144	+	Silent	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:216420144T>A	ENST00000366943.2	-	13	2978	c.2592A>T	c.(2590-2592)tcA>tcT	p.S864S	USH2A_ENST00000366942.3_Silent_p.S864S|USH2A_ENST00000307340.3_Silent_p.S864S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	864	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			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)		ATTGTCCTGTTGATTTGTTAC	0.428000										HNSCC(13;0.011)			26	162					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79441936	79441936	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:79441936C>T	ENST00000507668.2	-	11	1365	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	SERINC5_ENST00000512721.1_Missense_Mutation_p.M405I|SERINC5_ENST00000512972.2_Missense_Mutation_p.M405I|SERINC5_ENST00000509193.1_Missense_Mutation_p.M403I	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	405					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TGACGGTCATCATCACATACA	0.448000													15	68					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14894511	14894511	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:14894511C>G	ENST00000378372.3	+	8	954	c.715C>G	c.(715-717)Cta>Gta	p.L239V		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	239					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGCACAGTATCTAGCTTCTGA	0.358000													9	73					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173234	161173234	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:161173234G>A	ENST00000308192.9	+	18	2276	c.2213G>A	c.(2212-2214)aGa>aAa	p.R738K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	738	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGAATGGAAGAGTCCAATCC	0.473000													9	44					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38707044	38707044	+	Splice_Site	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:38707044C>G	ENST00000416611.1	-	8	854		c.e8-1		DPF1_ENST00000420980.2_Splice_Site|DPF1_ENST00000414789.1_Splice_Site|DPF1_ENST00000355526.4_Splice_Site|DPF1_ENST00000412732.1_Splice_Site|DPF1_ENST00000456296.1_Splice_Site			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1						induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTGTAAAACTCTGGGGTAGGG	0.597000													4	21					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154313436	154313436	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:154313436G>A	ENST00000368489.3	+	13	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E400K	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	400					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCCTAAACGAGGAGCTGGG	0.547000													20	83					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556192	57556192	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:57556192C>G	ENST00000243077.3	+	14	2761	c.2295C>G	c.(2293-2295)gtC>gtG	p.V765V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	765					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGCAGTGTCTACCGCTTGG	0.572000													25	112					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113678	94113678	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:94113678G>C	ENST00000243673.2	-	4	1080	c.909C>G	c.(907-909)ctC>ctG	p.L303L	GPR83_ENST00000539203.2_Silent_p.L261L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	303						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAACCAGCAGAGGGCAAAGA	0.527000													11	72					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38516472	38516472	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:38516472C>G	ENST00000356264.2	-	6	709	c.494G>C	c.(493-495)cGa>cCa	p.R165P	AMPH_ENST00000428293.2_Missense_Mutation_p.R165P|AMPH_ENST00000325590.5_Missense_Mutation_p.R165P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	165	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTAGAGATTCGACTCTCATC	0.473000													7	60					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39047803	39047803	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:39047803C>T	ENST00000331366.5	-	20	1672	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Missense_Mutation_p.D195N|CPNE8_ENST00000360449.3_Missense_Mutation_p.D514N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	526										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GCTAGGACATCTTTAGCCAAT	0.463000													4	28					0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50031867	50031867	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:50031867T>A	ENST00000270645.3	+	2	585	c.138T>A	c.(136-138)gaT>gaA	p.D46E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	46						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CTCCCCATGATGACGCCCACG	0.662000													23	102					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46595734	46595734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:46595734C>T	ENST00000539173.1	+	4	553	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	ADARB1_ENST00000389863.4_Nonsense_Mutation_p.Q40*|ADARB1_ENST00000348831.4_Nonsense_Mutation_p.Q40*|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Nonsense_Mutation_p.Q40*	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	40					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CGAGGGCTCTCAGCTCTCCAA	0.617000													13	168					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212686	113212686	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:113212686T>A	ENST00000261965.3	-	5	558	c.372A>T	c.(370-372)agA>agT	p.R124S	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R124S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	124					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					AGTGGGCATCTCTTGGTAAGG	0.517000													6	40					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62372751	62372751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:62372751G>C	ENST00000266077.2	+	3	362	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	104						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCGGCTGGACGAGGTCATGGC	0.677000													4	42					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344700	21344700	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:21344700C>T	ENST00000215739.8	+	8	1036	c.677C>T	c.(676-678)cCa>cTa	p.P226L	LZTR1_ENST00000389355.3_Missense_Mutation_p.P207L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	226					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAGATCCCCCCATCTTGCTGC	0.582000													21	109					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32929161	32929161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:32929161G>A	ENST00000544455.1	+	14	7398	c.7171G>A	c.(7171-7173)Gaa>Aaa	p.E2391K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2391K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2391	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACAAGAAATGAAAAAATGAG	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	53					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2335497	2335497	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:2335497G>A	ENST00000301732.5	-	23	4129	c.3429C>T	c.(3427-3429)ctC>ctT	p.L1143L	ABCA3_ENST00000382381.3_Silent_p.L1085L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1143					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAGAGCAGAGAGCCAGAAAC	0.627000													6	14					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123476277	123476277	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:123476277G>A	ENST00000373930.3	-	1	471	c.360C>T	c.(358-360)ctC>ctT	p.L120L	MEGF9_ENST00000426959.1_Silent_p.L112L	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	120	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GCGAGGGGCCGAGCGGCGCCT	0.706000													3	15					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14830020	14830020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:14830020C>A	ENST00000292530.6	+	12	1972	c.1881C>A	c.(1879-1881)ttC>ttA	p.F627L	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.F518L	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGAAAGCCTTCAGGCACAGCT	0.483000													20	82					2.39187e-15	2.62426e-15	1	1	0
ZNF396	252884	broad.mit.edu	37	18	32949447	32949447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:32949447C>T	ENST00000306346.1	-	4	871	c.740G>A	c.(739-741)tGg>tAg	p.W247*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.W247*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	247					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTGTTTTTTCCAAGAAGGGTT	0.388000													7	49					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196454	207196454	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:207196454C>T	ENST00000359470.5	-	4	904	c.655G>A	c.(655-657)Gag>Aag	p.E219K	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	219						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCTGGCCCCTCGGGCAGGCTG	0.627000													33	172					0	0	1	0	0
PNPO	55163	broad.mit.edu	37	17	46022060	46022060	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:46022060G>C	ENST00000225573.4	+	3	447	c.342G>C	c.(340-342)gaG>gaC	p.E114D	PNPO_ENST00000534893.1_Missense_Mutation_p.E19D|PNPO_ENST00000544840.1_Missense_Mutation_p.E114D|PNPO_ENST00000434554.2_Missense_Mutation_p.E114D	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	114					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	CTAACTTCGAGAGTCGAAAAG	0.512000													12	115					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132233479	132233479	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:132233479C>G	ENST00000260818.6	+	46	5698	c.5450C>G	c.(5449-5451)tCc>tGc	p.S1817C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1817							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATGGTTTTGTCCAGTTTATTG	0.358000													5	26					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74604834	74604834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:74604834C>G	ENST00000361874.3	-	3	616	c.299G>C	c.(298-300)gGa>gCa	p.G100A	DCTN1_ENST00000409240.1_Missense_Mutation_p.G83A|DCTN1_ENST00000409567.3_Missense_Mutation_p.G100A|DCTN1_ENST00000394003.3_Missense_Mutation_p.G100A|DCTN1_ENST00000409868.1_Missense_Mutation_p.G83A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	100					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTATCTGCTCCATCTTCAAA	0.463000													14	61					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133433209	133433209	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:133433209A>T	ENST00000266880.7	-	11	1173	c.1110T>A	c.(1108-1110)agT>agA	p.S370R	CHFR_ENST00000443047.2_Missense_Mutation_p.S278R|CHFR_ENST00000537522.1_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.S329R|CHFR_ENST00000450056.2_Missense_Mutation_p.S358R|CHFR_ENST00000432561.2_Missense_Mutation_p.S370R|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	370					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTTCACTGCGACTCTTGTCTA	0.512000													14	175					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097617	11097617	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:11097617C>T	ENST00000358026.2	+	5	1081	c.797C>T	c.(796-798)tCg>tTg	p.S266L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.S266L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S266L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S266L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S266L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S266L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S266L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S266L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S266L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	266	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAGGACCCTCGGGCGTGCCC	0.642000			"""F, N, Mis"""		NSCLC								14	58					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281176	15281176	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:15281176G>A	ENST00000263388.2	-	27	5155	c.5080C>T	c.(5080-5082)Cgg>Tgg	p.R1694W		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1694					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGGTTCCCGCCGGCCCTTG	0.667000													5	48					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752732	62752732	+	RNA	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:62752732C>T	ENST00000331425.6	-	0	703					NR_003952.1																						TTGCCACATTCCTCACATCTA	0.403000													4	38					0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	12940438	12940438	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:12940438C>T	ENST00000378839.1	-	7	1368	c.416G>A	c.(415-417)cGc>cAc	p.R139H	CCDC3_ENST00000378825.3_Missense_Mutation_p.R264H			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	264						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GTAGGGGGGGCGCACGGGCCC	0.657000													12	51					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28499514	28499514	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:28499514G>C	ENST00000261609.7	-	20	3130	c.3022C>G	c.(3022-3024)Ctg>Gtg	p.L1008V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1008					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			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)		AGCTGAACCAGAGGCAAACAC	0.393000													5	30					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795436	99795436	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:99795436G>C	ENST00000426455.1	+	11	1508	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L	STAG3_ENST00000317296.5_Silent_p.L367L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Silent_p.L309L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	367	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAAGGCCCTGAAAGGGCTGT	0.547000													10	78					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399750	10399750	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:10399750C>T	ENST00000226207.5	-	34	4867	c.4773G>A	c.(4771-4773)aaG>aaA	p.K1591K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1591						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTTTCTCTTCATCTGGT	0.458000													22	94					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820450	104820450	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:104820450C>T	ENST00000444739.2	-	5	1511	c.601G>A	c.(601-603)Gac>Aac	p.D201N	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.D145N	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	201					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AATGTGCTGTCAGAGGACTTG	0.463000													9	81					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45172503	45172503	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:45172503G>C	ENST00000291565.4	+	8	798	c.615G>C	c.(613-615)caG>caC	p.Q205H	PDXK_ENST00000467908.1_Missense_Mutation_p.Q165H|PDXK_ENST00000468090.1_Missense_Mutation_p.Q177H	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	205					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TGGGGAGTCAGAGGAGGAGTA	0.592000													14	42					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21328844	21328844	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:21328844G>C	ENST00000377191.3	+	18	1821	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	XRN2_ENST00000539513.1_Missense_Mutation_p.E522Q|XRN2_ENST00000430571.2_Missense_Mutation_p.E500Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	576					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCAGACTTTGAAGGCATTGC	0.343000													11	37					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020365	151020365	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:151020365G>A	ENST00000368926.5	+	1	150	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	14						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGCTGCTGAATCTGGGTC	0.697000													3	24					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42033518	42033518	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:42033518C>T	ENST00000220809.4	-	14	1938	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PLAT_ENST00000352041.3_Missense_Mutation_p.R515Q|PLAT_ENST00000524009.1_Missense_Mutation_p.R472Q|PLAT_ENST00000429710.2_Missense_Mutation_p.R435Q|PLAT_ENST00000519510.1_Missense_Mutation_p.R498Q|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000429089.2_Missense_Mutation_p.R561Q	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	561	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGTCACGGTCGCATGTTGTC	0.537000													5	42					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595271	82595271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:82595271C>A	ENST00000423517.2	-	4	4170	c.3833G>T	c.(3832-3834)gGc>gTc	p.G1278V	PCLO_ENST00000333891.8_Missense_Mutation_p.G1278V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1217					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCCACTCTGCCTTCAAGCTT	0.428000													15	81					1.15088e-07	1.22215e-07	1	1	0
SEC24B	10427	broad.mit.edu	37	4	110431255	110431255	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:110431255C>G	ENST00000265175.5	+	8	1819	c.1764C>G	c.(1762-1764)ttC>ttG	p.F588L	SEC24B_ENST00000504968.2_Missense_Mutation_p.F618L|SEC24B_ENST00000399100.2_Missense_Mutation_p.F553L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	588					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	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACATCCCTTCAGAGACCTAA	0.313000													5	25					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16091095	16091095	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:16091095G>A	ENST00000332432.8	-	3	988	c.789C>T	c.(787-789)ctC>ctT	p.L263L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	263						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AGGCTGACCAGAGGAGCCAAG	0.443000													3	18					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953763	56953763	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:56953763C>G	ENST00000504904.3	-	7	1320	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.E201Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.E329Q|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTATTGCATTCATGGCTTTTC	0.383000													9	40					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72877286	72877286	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:72877286C>G	ENST00000339594.4	-	12	3553	c.3215G>C	c.(3214-3216)gGa>gCa	p.G1072A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.G1072A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1072					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCACATATCCAAGTCCTCC	0.403000													18	90					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128630845	128630845	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:128630845G>C	ENST00000371122.4	-	12	1637	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.S503*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.S503*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	503	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAGAACCCTTGAACCTAAAAC	0.373000													9	29					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57960951	57960951	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:57960951G>C	ENST00000455537.2	+	7	818	c.544G>C	c.(544-546)Gat>Cat	p.D182H	KIF5A_ENST00000286452.5_Missense_Mutation_p.D93H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	182	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGAGATTCTGGATGTGATTGA	0.458000													12	58					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940123	68940123	+	Silent	SNP	G	G	A	rs146754105		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:68940123G>A	ENST00000433211.1	-	7	1173	c.999C>T	c.(997-999)aaC>aaT	p.N333N	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.N333N|CTNNA3_ENST00000545309.1_Silent_p.N333N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	333					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.N333N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGCGAATGGCGTTGCATTCTG	0.517000													11	73					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71195412	71195412	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:71195412C>T	ENST00000319023.2	+	15	1562	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	NADSYN1_ENST00000539574.1_Silent_p.F198F|NADSYN1_ENST00000530055.1_Silent_p.F87F|NADSYN1_ENST00000526039.2_3'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	458	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGGCATCTTCAGCCTGGTGA	0.597000													8	44					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75777731	75777731	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:75777731C>G	ENST00000376911.1	+	6	1391	c.509C>G	c.(508-510)tCa>tGa	p.S170*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.S170*			P04083	ANXA1_HUMAN	annexin A1	170					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GACATAACCTCAGACACATCT	0.333000													3	18					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617530	37617530	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:37617530G>C	ENST00000399151.3	+	19	3337	c.3252G>C	c.(3250-3252)ctG>ctC	p.L1084L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1084					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGCGAGCTGAGCGAGGAAG	0.627000													8	50					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799744	38799744	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:38799744G>C	ENST00000308979.2	-	4	982	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	TLR1_ENST00000502213.2_Missense_Mutation_p.L237V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	237					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTTTCGCCAGAATACTTAGG	0.338000													5	25					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109067	54109067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:54109067G>A	ENST00000548263.1	-	10	1351	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.R350*|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.R435*|CALCOCO1_ENST00000550804.1_Nonsense_Mutation_p.R435*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	435					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTCCAATCGAAGTATCTCT	0.532000													5	79					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47163076	47163076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:47163076C>T	ENST00000447411.1	-	14	1641	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G479R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	479					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCTATGAATCCGAAGATGTAT	0.443000													8	42					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111959708	111959708	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:111959708C>T	ENST00000375549.3	+	3	422	c.287C>T	c.(286-288)gCt>gTt	p.A96V	SDHD_ENST00000528182.1_Missense_Mutation_p.A96V|SDHD_ENST00000528021.1_Missense_Mutation_p.A96V|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000525291.1_Missense_Mutation_p.A57V|SDHD_ENST00000532699.1_Missense_Mutation_p.A96V|SDHD_ENST00000526592.1_Missense_Mutation_p.A96V	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	96					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TATTCCCTGGCTGCAGCCCTC	0.463000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				14	69					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113276007	113276007	+	Silent	SNP	A	A	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:113276007A>G	ENST00000297405.5	-	61	9967	c.9723T>C	c.(9721-9723)aaT>aaC	p.N3241N	CSMD3_ENST00000352409.3_Silent_p.N3171N|CSMD3_ENST00000343508.3_Silent_p.N3201N|CSMD3_ENST00000455883.2_Silent_p.N3072N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3241	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGCCTTCCATTAGAGATCT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	71					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44603749	44603749	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:44603749G>A	ENST00000245121.5	+	12	1106	c.912G>A	c.(910-912)atG>atA	p.M304I	RP11-49K24.4_ENST00000592747.1_RNA|KATNAL2_ENST00000356157.7_Missense_Mutation_p.M376I|KATNAL2_ENST00000592005.1_Missense_Mutation_p.M57I	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	376						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCCTGCGGATGAAGACAGAGT	0.512000													9	30					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476097	65476097	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:65476097G>T	ENST00000519389.1	+	17	3162	c.2983G>T	c.(2983-2985)Gca>Tca	p.A995S	HEPH_ENST00000343002.2_Missense_Mutation_p.A941S|HEPH_ENST00000336279.5_Missense_Mutation_p.A674S|HEPH_ENST00000441993.2_Missense_Mutation_p.A944S|HEPH_ENST00000419594.1_Missense_Mutation_p.A752S|HEPH_ENST00000374727.3_Missense_Mutation_p.A944S			Q9BQS7	HEPH_HUMAN	hephaestin	941	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGAAAATGTGGCAACCCATGG	0.433000													13	29					0.00010058	0.000105121	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52394051	52394051	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:52394051G>C	ENST00000420323.2	+	27	4788	c.4527G>C	c.(4525-4527)gaG>gaC	p.E1509D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1509	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAATCCAGGAGAACGTGGTCA	0.622000													14	99					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395470	138395470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:138395470G>T	ENST00000371785.1	+	5	591	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	MRPS2_ENST00000488610.1_3'UTR|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.A128S			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	128					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCTCCAGCTGGCCTTGAACTT	0.572000													4	36					0.150653	0.151307	1	1	0
CPNE1	8904	broad.mit.edu	37	20	34219252	34219252	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr20:34219252C>G	ENST00000317619.3	-	11	1133	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	CPNE1_ENST00000397442.1_Missense_Mutation_p.E247Q|CPNE1_ENST00000317677.5_Missense_Mutation_p.E252Q|CPNE1_ENST00000397445.1_Missense_Mutation_p.E247Q|CPNE1_ENST00000397446.1_Missense_Mutation_p.E247Q|CPNE1_ENST00000397443.1_Missense_Mutation_p.E247Q|CPNE1_ENST00000352393.4_Missense_Mutation_p.E247Q			Q99829	CPNE1_HUMAN	copine I	247					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGCTGCTTCTCAGGGTGGATG	0.468000													21	89					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351143	35351143	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:35351143G>C	ENST00000373347.1	-	7	2118	c.1850C>G	c.(1849-1851)cCt>cGt	p.P617R	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P617R			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	617					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCCTGCCAGGGATGGTCTT	0.726000													3	17					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2924412	2924412	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:2924412C>T	ENST00000261596.4	-	15	2309	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	691	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATTGTCCCATCAATATCAGAA	0.502000													13	76					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522847	55522847	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:55522847C>T	ENST00000436346.1	-	31	6278	c.5437G>A	c.(5437-5439)Gaa>Aaa	p.E1813K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1785K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1812K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1738K|CCDC88A_ENST00000422883.2_Missense_Mutation_p.E314K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1813					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTAGTTCCTTCGGCAGTTGAG	0.418000													17	82					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906767	103906767	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:103906767G>A	ENST00000278070.2	+	9	4057	c.4018G>A	c.(4018-4020)Gct>Act	p.A1340T	PPRC1_ENST00000370012.1_Missense_Mutation_p.A307T|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTTGGGCCCAGCTGCCCCTCC	0.597000													8	30					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379707	204379707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:204379707G>A	ENST00000367188.4	-	1	1212	c.833C>T	c.(832-834)tCg>tTg	p.S278L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	278					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCCCTGCCACGAGGCCGGAAT	0.552000													12	142					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49456118	49456118	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr6:49456118G>C	ENST00000335783.3	+	7	625	c.531G>C	c.(529-531)caG>caC	p.Q177H		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	177					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GGAATATTCAGAGCCTAAAGA	0.318000													4	41					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41541114	41541114	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:41541114G>C	ENST00000402904.2	-	9	1093	c.725C>G	c.(724-726)cCa>cGa	p.P242R	SCMH1_ENST00000456518.2_Missense_Mutation_p.P84R|SCMH1_ENST00000397171.2_Missense_Mutation_p.P181R|SCMH1_ENST00000397174.2_Missense_Mutation_p.P222R|SCMH1_ENST00000372596.1_Missense_Mutation_p.P181R|SCMH1_ENST00000372597.1_Missense_Mutation_p.P195R|SCMH1_ENST00000361705.3_Missense_Mutation_p.P195R|SCMH1_ENST00000361191.5_Missense_Mutation_p.P181R|SCMH1_ENST00000337495.5_Missense_Mutation_p.P252R|SCMH1_ENST00000372595.1_Missense_Mutation_p.P181R|SCMH1_ENST00000326197.7_Missense_Mutation_p.P242R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	242					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GGGATTCTTTGGAATCACAAC	0.507000													9	42					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20843492	20843492	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr22:20843492C>G	ENST00000328879.4	-	2	163	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	3					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCTGCTCCTCTGCCATCCTG	0.597000													8	27					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764406	169764406	+	Silent	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:169764406C>G	ENST00000375363.3	+	5	977	c.885C>G	c.(883-885)ctC>ctG	p.L295L	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	295					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCCGGTTGCTCTGTGCCTTGA	0.478000													16	112					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245861575	245861575	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:245861575G>C	ENST00000366518.4	+	10	4953	c.4849G>C	c.(4849-4851)Gag>Cag	p.E1617Q	KIF26B_ENST00000407071.2_Missense_Mutation_p.E1998Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1998					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGATGACGTGGAGCGCCTGCA	0.647000													4	36					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66351675	66351675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:66351675C>T	ENST00000299608.2	-	11	1100	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	262					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGGTATGTTCAACTGATGTA	0.328000													11	54					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44281915	44281915	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:44281915C>T	ENST00000395749.2	-	10	797	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	CAMK2B_ENST00000502837.2_Missense_Mutation_p.V112I|CAMK2B_ENST00000347193.4_Missense_Mutation_p.V241I|CAMK2B_ENST00000395747.2_Missense_Mutation_p.V241I|CAMK2B_ENST00000358707.3_Missense_Mutation_p.V241I|CAMK2B_ENST00000353625.4_Missense_Mutation_p.V241I|CAMK2B_ENST00000350811.3_Missense_Mutation_p.V241I|CAMK2B_ENST00000457475.1_Missense_Mutation_p.V241I|CAMK2B_ENST00000346990.4_Missense_Mutation_p.V241I|CAMK2B_ENST00000258682.6_Missense_Mutation_p.V241I|CAMK2B_ENST00000440254.2_Missense_Mutation_p.V241I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	241	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			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TCAGGAGTGACGGTGTCCCAC	0.612000													11	83					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52285113	52285113	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:52285113G>A	ENST00000340970.4	+	6	1179	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	ANKRD33_ENST00000538991.1_Missense_Mutation_p.G201R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	270										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGGACAGGCTGGGAACAGGTA	0.557000													6	15					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75070291	75070291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:75070291C>A	ENST00000453279.2	-	5	1032	c.168G>T	c.(166-168)aaG>aaT	p.K56N	POM121C_ENST00000257665.5_Missense_Mutation_p.K298N	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	298	Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGTCCTTTTCTTCTTCTTCT	0.468000													20	173					3.5997e-14	3.9401e-14	1	1	0
GABPA	2551	broad.mit.edu	37	21	27121396	27121396	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr21:27121396C>A	ENST00000354828.3	+	4	799	c.272C>A	c.(271-273)aCt>aAt	p.T91N	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.T91N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	91					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACAGATGGAACTGTACAGCTT	0.303000													5	28					8.12818e-05	8.51437e-05	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11101925	11101925	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:11101925G>A	ENST00000358026.2	+	8	1629	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E449K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E449K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E449K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E449K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E449K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E449K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E449K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E449K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	449					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTCCCTGCGCGAGGCCCGCAT	0.657000			"""F, N, Mis"""		NSCLC								4	15					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9798161	9798161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr3:9798161G>A	ENST00000302036.7	+	5	1097	c.754G>A	c.(754-756)Gac>Aac	p.D252N	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000344629.7_Missense_Mutation_p.D252N|OGG1_ENST00000449570.2_Missense_Mutation_p.D252N|OGG1_ENST00000302003.7_Missense_Mutation_p.D252N|OGG1_ENST00000339511.5_Missense_Mutation_p.D252N|OGG1_ENST00000302008.8_Missense_Mutation_p.D252N|OGG1_ENST00000349503.5_Intron	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	252					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AAAGGTGGCTGACTGCATCTG	0.567000								Base excision repair (BER), DNA glycosylases					11	45					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600259	29600259	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr13:29600259C>T	ENST00000431530.3	+	1	1512	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	475						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCAATCCTTCTGTTGGAGAG	0.512000													4	43					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976807	46976807	+	Silent	SNP	G	G	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:46976807G>T	ENST00000371956.4	+	3	564	c.549G>T	c.(547-549)ctG>ctT	p.L183L	DMBX1_ENST00000360032.3_Silent_p.L178L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	183					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACCTGAGTCTGTCTGAGCAGT	0.662000													5	58					0.184627	0.185027	1	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796460	62796460	+	RNA	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:62796460C>T	ENST00000582986.1	-	0	1460					NR_024386.1																						AGCATCTTCTCATTGTTCCTG	0.532000													4	24					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139064	145139064	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr8:145139064G>A	ENST00000355091.4	+	6	765	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	GPAA1_ENST00000527144.1_Intron|GPAA1_ENST00000361036.6_Missense_Mutation_p.R155Q	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	215					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGGGCCGAGCTGGGGCC	0.637000													11	67					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14711477	14711477	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:14711477C>T	ENST00000437198.2	-	6	499	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PARN_ENST00000420015.2_Missense_Mutation_p.G74R|PARN_ENST00000539279.1_Intron|PARN_ENST00000566021.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.G59R	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	120					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AAATCAAATCCCTGGCTTGCT	0.373000													7	24					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959320	200959320	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:200959320G>A	ENST00000332129.2	-	20	3292	c.2976C>T	c.(2974-2976)atC>atT	p.I992I	KIF21B_ENST00000461742.2_Silent_p.I992I|KIF21B_ENST00000360529.5_Silent_p.I992I|KIF21B_ENST00000422435.2_Silent_p.I992I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	992					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCCGTCATTGATGTAGTCAA	0.652000													5	74					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442860	114442860	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:114442860C>T	ENST00000369569.1	-	5	1060	c.780G>A	c.(778-780)ctG>ctA	p.L260L	AP4B1_ENST00000369566.3_Silent_p.L167L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L92L|AP4B1_ENST00000256658.4_Silent_p.L260L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	260					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAAGATCAGAAAAAGTT	0.483000													7	31					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960101	200960101	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:200960101G>C	ENST00000332129.2	-	18	2947	c.2631C>G	c.(2629-2631)atC>atG	p.I877M	KIF21B_ENST00000461742.2_Missense_Mutation_p.I877M|KIF21B_ENST00000360529.5_Missense_Mutation_p.I877M|KIF21B_ENST00000422435.2_Missense_Mutation_p.I877M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	877					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGAAGTGGTTGATTTTGCGGT	0.637000													9	104					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431077	36431077	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:36431077C>T	ENST00000588831.1	+	3	1804	c.750C>T	c.(748-750)ccC>ccT	p.P250P	LRFN3_ENST00000246529.3_Silent_p.P250P			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	250	LRRCT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGGAACCCCCTGCACTGCA	0.726000													16	73					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523974	55523974	+	Missense_Mutation	SNP	C	C	T	rs138102893		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr12:55523974C>T	ENST00000305377.5	+	1	510	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTTCTCCTGGCGGCCATGGCT	0.498000													15	93					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111078	55111078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:55111078G>A	ENST00000314721.2	+	1	452	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGAACATCATGAATCGACTGG	0.458000													11	108					0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57427024	57427024	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:57427024G>A	ENST00000533682.1	+	2	801	c.76G>A	c.(76-78)Gag>Aag	p.E26K	CLP1_ENST00000529430.1_Missense_Mutation_p.E37K|CLP1_ENST00000302731.4_Missense_Mutation_p.E26K|CLP1_ENST00000525602.1_Missense_Mutation_p.E26K			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	26					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ACTTCGCTTTGAGGTGGAGGC	0.468000													5	44					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57081464	57081464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:57081464G>A	ENST00000436936.1	+	23	3571	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E1116K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1116K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1116K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1116					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCCTCAGTGAGTGTCCTCT	0.627000													3	12					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40886386	40886386	+	Silent	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:40886386G>C	ENST00000291823.2	-	3	1796	c.1512C>G	c.(1510-1512)ctC>ctG	p.L504L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	504						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCAGCCGAATGAGGTTGCTGA	0.662000													12	100					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43192579	43192579	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:43192579C>T	ENST00000322765.5	-	10	1706	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	531	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGTACACAGCCAGGGCCGACA	0.687000													3	7					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:158815707G>A	ENST00000368141.4	+	5	1162	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000													5	41					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	312044	312044	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:312044G>A	ENST00000432829.2	+	6	731	c.415G>A	c.(415-417)Gac>Aac	p.D139N	DOCK8_ENST00000453981.1_Missense_Mutation_p.D207N|DOCK8_ENST00000469391.1_Missense_Mutation_p.D139N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	207					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGCAGCCTGACAAGCGGCT	0.607000													29	132					0	0	1	0	0
CFL2	1073	broad.mit.edu	37	14	35182575	35182575	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:35182575C>T	ENST00000341223.3	-	2	347	c.196G>A	c.(196-198)Gac>Aac	p.D66N	CFL2_ENST00000298159.6_Missense_Mutation_p.D66N|CFL2_ENST00000555765.1_Missense_Mutation_p.D49N|CFL2_ENST00000556161.1_Missense_Mutation_p.D49N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	66	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		GTGTAGGGGTCCTCTACAGTA	0.403000													10	52					0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13386820	13386820	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr10:13386820G>C	ENST00000327347.5	-	2	506	c.131C>G	c.(130-132)tCt>tGt	p.S44C	SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S44C|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S44C	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	44					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTCCTGTAAAGATTCCAGCAA	0.478000													27	111					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54675729	54675729	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr1:54675729C>T	ENST00000605337.1	+	4	805	c.757C>T	c.(757-759)Cta>Tta	p.L253L	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000360840.5_Silent_p.L253L|MRPL37_ENST00000336230.6_Silent_p.L122L			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	253					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAATCATGTTCTAGAGACCTT	0.453000													17	80					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531388	43531388	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:43531388C>T	ENST00000220420.5	-	8	1085	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	TGM5_ENST00000349114.4_Missense_Mutation_p.D278N	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	360					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTGTGGCGTCCAGCACCTGC	0.612000													7	53					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291654	5291654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr18:5291654G>A	ENST00000357006.4	-	4	891	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	ZBTB14_ENST00000400143.3_Nonsense_Mutation_p.Q185*	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CCGTCCTCCTGACTCGGGGGT	0.552000													14	133					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716498	105716498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:105716498C>T	ENST00000463376.2	+	3	1263	c.722C>T	c.(721-723)aCg>aTg	p.T241M	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.T241M|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.T316M|BTBD6_ENST00000392554.3_Missense_Mutation_p.T316M			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	316						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTGTGGTACACGGCCACCAAC	0.607000													9	89					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242141634	242141634	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr2:242141634C>T	ENST00000274979.8	+	8	903	c.800C>T	c.(799-801)cCg>cTg	p.P267L	ANO7_ENST00000402430.3_Missense_Mutation_p.P266L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	267						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCAAGACCCCGTATGGCCAC	0.597000													6	28					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100823149	100823149	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:100823149C>T	ENST00000210444.5	+	2	288	c.218C>T	c.(217-219)tCg>tTg	p.S73L		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	73					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CCATACACCTCGAAGCATTCC	0.522000													11	127					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1616226	1616226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:1616226C>T	ENST00000426508.2	-	16	2200	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	613										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTCTTGAAGTCAAAGACGGTC	0.433000													14	151					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187584663	187584663	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr4:187584663C>G	ENST00000441802.2	-	3	3579	c.3370G>C	c.(3370-3372)Gag>Cag	p.E1124Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1124	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTAGATCTCTATGAACGAT	0.443000										HNSCC(5;0.00058)			13	43					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40631793	40631793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr15:40631793C>T	ENST00000559313.1	-	3	298	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	95										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CCCCCCTGCTCTGCCTGCCGA	0.637000													22	90					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73255478	73255478	+	Silent	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr7:73255478G>A	ENST00000297873.4	-	3	223	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	58										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGGCTTGTGTGAGGCAGTCCA	0.672000													3	12					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387764	30387764	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:30387764G>A	ENST00000322861.7	+	4	274	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	65					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGTGAAGAATGAGGAGTTGGA	0.597000													7	51					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117097941	117097941	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr11:117097941C>T	ENST00000320934.3	-	5	1331	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	234	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGCGATCTCTCCTGCACATCG	0.612000			T	IGH@	MLCLS								19	67					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69353393	69353393	+	Silent	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:69353393C>T	ENST00000254950.11	+	6	723	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-343C2.3_ENST00000570054.2_Silent_p.F213F|VPS4A_ENST00000569775.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	189					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACTCCACCTTCTTCTCTGTGT	0.612000													5	33					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32388633	32388633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr5:32388633C>T	ENST00000265069.8	-	13	2392	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	764					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTG	0.363000													5	42					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475812	120475825	+	Frame_Shift_Del	DEL	GCTTGTCCAGTCTC	GCTTGTCCAGTCTC	-	rs80197996		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr9:120475812_120475825delGCTTGTCCAGTCTC	ENST00000355622.6	+	3	1507_1520	c.1406_1419delGCTTGTCCAGTCTC	c.(1405-1419)gfs	p.GLSSL469fs	TLR4_ENST00000394487.4_Frame_Shift_Del_p.GLSSL429fs|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	469					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.G469G(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						ATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGA	0.425													7	75	---	---	---	---					
INF2	64423	broad.mit.edu	37	14	105179309	105179310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr14:105179309_105179310insT	ENST00000392634.4	+	18	2867_2868	c.2755_2756insT	c.(2755-2757)tttfs	p.F919fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.F919fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	919	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTTCCGGGACCTTTTCCTCCGC	0.663													40	137	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													11	290	---	---	---	---					
TBCD	6904	broad.mit.edu	37	17	80828158	80828158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr17:80828158delG	ENST00000355528.4	+	14	1507	c.1377delG	c.(1375-1377)gtfs	p.V459fs	TBCD_ENST00000539345.2_Frame_Shift_Del_p.V459fs|TBCD_ENST00000397466.2_Frame_Shift_Del_p.V73fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	459					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTGCAGCGTGGGCACCAACG	0.617													14	47	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49002387	49002389	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chr19:49002387_49002389delCCT	ENST00000600059.1	-	11	2164_2166	c.1937_1939delAGG	c.(1936-1941)ggc>g	p.EG646del	LMTK3_ENST00000270238.3_In_Frame_Del_p.EG675del					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGAGCTGCCCTCCTCCTCCTC	0.739													2	4	---	---	---	---					
FRMPD4	9758	broad.mit.edu	37	X	12736252	12736253	+	Frame_Shift_Ins	INS	-	-	A	rs35659462		TCGA-55-A48Y-01A-11D-A24D-08	TCGA-55-A48Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43a5a5ca-7185-4361-86b6-82b9d99f036c	85197715-a775-4ffa-838c-9b9935b3c78e	g.chrX:12736252_12736253insA	ENST00000380682.1	+	16	3813_3814	c.3307_3308insA	c.(3307-3309)aaafs	p.K1103fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1103					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGGATGGCTGAAAAAAGTGGA	0.500													48	62	---	---	---	---