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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	34					0	0	0.000602	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423000													6	38					0	0	0.001168	0	0
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:45929029G>C	ENST00000348697.2	+	6	778	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R			P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637000													8	35					0	0	0.003080	0	0
KLHL4	56062	broad.mit.edu	37	X	86877396	86877396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:86877396C>A	ENST00000373119.4	+	5	1255	c.1110C>A	c.(1108-1110)taC>taA	p.Y370*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	370						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCTTTCTTACATCAGACTGC	0.413000													10	34					0.00010058	0.00010528	0.013537	1	0
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ELN_ENST00000458204.1_Silent_p.V479V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V|ELN_ENST00000380562.4_Silent_p.V495V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	518	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCTGGTGTCGGTGTGGCTC	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	175					0	0	0.009535	0	0
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGGATAATTTAGTTCG	0.264000										HNSCC(35;0.089)			8	75					0	0	0.008291	0	0
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363000													11	87					0.000673444	0.000698386	0.008291	1	0
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:127796911C>T	ENST00000556132.1	-	6	3124	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	754						integral to membrane											GCGTCGCTCTCGGCGTCGCTG	0.701000													11	83					0	0	0.013537	0	0
SETD9	133383	broad.mit.edu	37	5	56207180	56207180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:56207180C>A	ENST00000285947.2	+	2	669	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	95																	AGTTGAACATCAAGGGGTGAA	0.363000													22	20					3.10358e-05	3.27925e-05	0.014323	1	0
MUC17	140453	broad.mit.edu	37	7	100678877	100678877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100678877G>T	ENST00000306151.4	+	3	4244	c.4180G>T	c.(4180-4182)Gga>Tga	p.G1394*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAACCACTCC	0.507000													91	272					4.21773e-46	4.77158e-46	0.014410	1	0
CGNL1	84952	broad.mit.edu	37	15	57730854	57730854	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:57730854C>T	ENST00000281282.5	+	2	735	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	219	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCGTTTATGCAGCTCCGTGG	0.527000													19	127					0	0	0.012319	0	0
NFRKB	4798	broad.mit.edu	37	11	129748208	129748208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:129748208G>A	ENST00000446488.3	-	14	1610	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W|NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	503					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCACACCCGAGGGACAGGT	0.433000													19	20					0	0	0.012319	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597000													9	13					0	0	0.006214	0	0
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CCCCCCCGTCCGCGCATCGCG	0.672000													4	53					0	0	0.000602	0	0
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597000													6	46					0	0	0.001168	0	0
CHST15	51363	broad.mit.edu	37	10	125804104	125804104	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:125804104T>C	ENST00000346248.5	-	3	1520	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CHST15_ENST00000435907.1_Missense_Mutation_p.K293R|CHST15_ENST00000421115.1_Missense_Mutation_p.K293R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACCAAAGCGCTTCCGGGTCCA	0.637000													7	12					0	0	0.001984	0	0
PIPSL	266971	broad.mit.edu	37	10	95718642	95718642	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:95718642G>A	ENST00000480546.1	-	0	2655					NR_002319.2																						ACAGCATTTCGAATGGCTTCA	0.537000													9	36					0	0	0.004482	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607000													16	63					0	0	0.004990	0	0
ZC3H3	23144	broad.mit.edu	37	8	144589967	144589967	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:144589967G>C	ENST00000262577.5	-	4	1695	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667000													32	45					0	0	0.010818	0	0
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				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)	TTGTGTGGCTCCCACACACTG	0.433000													18	93					0	0	0.007413	0	0
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000543509.1_Missense_Mutation_p.S247N|EVI5_ENST00000540033.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308000													8	34					0	0	0.006214	0	0
SCN2A	6326	broad.mit.edu	37	2	166152455	166152455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:166152455G>A	ENST00000357398.3	+	2	412	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375437.2_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	41					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAACAGGAACGCAAGGATGAG	0.473000													9	19					0	0	0.008291	0	0
UBL7	84993	broad.mit.edu	37	15	74740855	74740855	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74740855C>T	ENST00000567435.1	-	10	1432	c.969G>A	c.(967-969)caG>caA	p.Q323Q	UBL7_ENST00000395081.2_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	323							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAAGGGCATGCTGTAGGGCTT	0.542000													23	106					0	0	0.012319	0	0
DGKK	139189	broad.mit.edu	37	X	50119144	50119144	+	RNA	SNP	A	A	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:50119144A>T	ENST00000376025.2	-	0	3351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGCTGGTGGATCTTGCTCAG	0.478000													6	4					0	0	0.001984	0	0
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677000													10	8					0	0	0.008291	0	0
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697000													4	11					0	0	0.009096	0	0
RBBP7	5931	broad.mit.edu	37	X	16887237	16887237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887237C>G	ENST00000380087.2	-	2	483	c.123G>C	c.(121-123)tgG>tgC	p.W41C	RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	41					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TAAGACTGGGCCACTGAAGAG	0.393000													10	27					0	0	0.008291	0	0
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:55106360G>A	ENST00000453777.1	+	4	471	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607000													11	52					0	0	0.008291	0	0
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537000													13	121					9.31168e-06	1.01253e-05	0.001855	1	0
ABCA4	24	broad.mit.edu	37	1	94496611	94496611	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:94496611G>A	ENST00000370225.3	-	28	4280	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1398					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGGTATTCGCCAAAAGGAG	0.512000													6	23					0	0	0.001168	0	0
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308000													9	40					0	0	0.004482	0	0
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:69003203G>A	ENST00000543950.1	+	4	805	c.451G>A	c.(451-453)Gct>Act	p.A151T	CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622000													3	5					0	0	0.004672	0	0
LINC00207	388910	broad.mit.edu	37	22	44967270	44967270	+	RNA	SNP	C	C	T	rs144250545	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:44967270C>T	ENST00000605505.1	+	0	261					NR_028409.1															lung(3)	3						acccactttacggatgaggaa	0.567000													3	12					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179606565C>T	ENST00000589042.1	-	48	11619	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3482			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(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)			GACAAAAGTTCAAGTGTTTCA	0.373000													4	12					0	0	0.009096	0	0
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343000													21	57					0	0	0.008871	0	0
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632000													3	14					0	0	0.004672	0	0
PADI6	353238	broad.mit.edu	37	1	17727771	17727771	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:17727771G>A	ENST00000434762.2	+	0	1973							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGGACCTGCTGCCTGGAA	0.537000													4	38					0	0	0.000602	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000450877.1_Silent_p.A128A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418000													6	48					0	0	0.001984	0	0
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:96121595C>T	ENST00000296754.3	-	13	2097	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413000													4	49					0	0	0.009096	0	0
TUB	7275	broad.mit.edu	37	11	8123160	8123160	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:8123160C>T	ENST00000305253.4	+	13	1921	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	TUB_ENST00000534099.1_Silent_p.C511C|TUB_ENST00000299506.2_Silent_p.C505C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	505					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTGGCGTGCGAGTAGAGGC	0.597000													15	8					0	0	0.002450	0	0
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:45555410G>C	ENST00000544944.2	+	2	873	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562000													4	49					0	0	0.009096	0	0
TRA2B	6434	broad.mit.edu	37	3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGATCTGGAACGCCTGGAATC	0.488000													28	61					0	0	0.007291	0	0
SLC17A5	26503	broad.mit.edu	37	6	74331548	74331548	+	Silent	SNP	G	G	A	rs147732875		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:74331548G>A	ENST00000355773.5	-	7	1225	c.957C>T	c.(955-957)atC>atT	p.I319I	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	319					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAACCTTAGGATCTCCTTCA	0.313000													9	21					0	0	0.004482	0	0
CSF1	1435	broad.mit.edu	37	1	110456910	110456910	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:110456910C>T	ENST00000329608.6	+	2	460	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CSF1_ENST00000420111.2_Silent_p.V23V|CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	23					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTTGTTGGTCTGTCTCCTGG	0.587000													16	29					0	0	0.003163	0	0
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:151857487C>T	ENST00000367290.5	+	2	181	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433000													5	57					0	0	0.001168	0	0
ISLR2	57611	broad.mit.edu	37	15	74426761	74426761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74426761C>T	ENST00000361742.3	+	4	2435	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	556					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTACTGGTTCCGCGGCCTGCG	0.682000													4	9					0	0	0.009096	0	0
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373000													10	58					0	0	0.010729	0	0
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		216						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTTACTGCAGCCAAGAGGACC	0.378000													9	51					0	0	0.008291	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:112900135G>A	ENST00000374530.3	+	8	2491	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		540							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGAGAAGGCGTCTCCAAGTC	0.532000													5	46					0	0	0.000602	0	0
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403000													8	28					1.12685e-05	1.21353e-05	0.004482	1	0
DPPA4	55211	broad.mit.edu	37	3	109049479	109049479	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:109049479T>G	ENST00000335658.6	-	5	625	c.571A>C	c.(571-573)Aca>Cca	p.T191P	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	191						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACCACAACTGTATTAACTCCC	0.562000													43	35					0	0	0.010771	0	0
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTGGTACTGGGGTCCGCGTCG	0.711000													3	23					0	0	0.009096	0	0
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:114499269G>C	ENST00000513154.1	-	2	534	c.208C>G	c.(208-210)Cga>Gga	p.R70G	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453000													5	49					0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:80646578G>A	ENST00000466387.1	+	13	1866	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTAGCTTCGGAAAGCAGTG	0.358000													8	51					0	0	0.003080	0	0
ZNF516	9658	broad.mit.edu	37	18	74154962	74154962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr18:74154962G>A	ENST00000443185.2	-	3	366	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCTGGTGGGGCTGGGGCCT	0.692000													7	4					0	0	0.004482	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667000													7	39					0	0	0.001984	0	0
CHRM3	1131	broad.mit.edu	37	1	240071198	240071198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240071198C>A	ENST00000255380.4	+	5	1226	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	149					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCATTGACTACGTAGCCAGCA	0.473000													27	34					9.86323e-18	1.10468e-17	0.003954	1	0
C9orf170	401535	broad.mit.edu	37	9	89771559	89771559	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:89771559T>C	ENST00000375941.2	+	2	327	c.240T>C	c.(238-240)tcT>tcC	p.S80S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	80										large_intestine(3)|lung(2)|prostate(1)	6						ggagaaagtctgatttaggag	0.393000													4	20					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	80					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627000													4	38					0	0	0.000602	0	0
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000458204.1_Silent_p.G480G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|ELN_ENST00000380562.4_Silent_p.G496G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						16	173					0	0	0.013114	0	0
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					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)	CGGGCTGGCAGCCTGTGGCGT	0.592000													11	51					0	0	0.013537	0	0
ISM1	140862	broad.mit.edu	37	20	13279972	13279972	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:13279972C>T	ENST00000262487.3	+	6	1267	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	421	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTGGACGTCCTGCCCTGGAT	0.622000													5	21					0	0	0.000602	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	63					0	0	0.001168	0	0
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393000													8	77					0	0	0.004482	0	0
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:31635648G>C	ENST00000375880.2	+	3	194	c.76G>C	c.(76-78)Gat>Cat	p.D26H	CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H																							CTGACAGGTGGATGAAGACTA	0.458000													13	20					0	0	0.013537	0	0
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448000													12	50					0	0	0.010729	0	0
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:32017676G>A	ENST00000382151.2	-	4	834	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000439502.2_Silent_p.L173L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602000													5	29					0	0	0.001168	0	0
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:17163638C>T	ENST00000593360.1	-	9	2761	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	80					0	0	0.004007	0	0
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					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)			TCAGTTGTGTGATATAAAATT	0.303000													17	20					0	0	0.004990	0	0
ZFAT	57623	broad.mit.edu	37	8	135620985	135620985	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:135620985T>C	ENST00000520727.1	-	6	1035	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000377838.3_Missense_Mutation_p.M258V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V|ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGACTTCATTGGTTGCTCA	0.483000													52	42					0	0	0.014410	0	0
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403000													11	52					0	0	0.001855	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:67172899G>A	ENST00000312390.5	+	4	311	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000542590.1_Silent_p.P94P|TBC1D10C_ENST00000526387.1_Silent_p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657000													13	38					0	0	0.002450	0	0
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323000													4	52					0	0	0.000602	0	0
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582000													8	37					2.17888e-05	2.32414e-05	0.006214	1	0
ADCK3	56997	broad.mit.edu	37	1	227169739	227169739	+	Missense_Mutation	SNP	G	G	A	rs148376283		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:227169739G>A	ENST00000366779.1	+	11	3513	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.V93M|ADCK3_ENST00000366776.1_Missense_Mutation_p.V173M|ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000433743.2_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	248					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGAAGGCCGTGCTGGGTTC	0.652000													29	36					0	0	0.008361	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:159819580G>A	ENST00000497452.1	-	0	517																											CATCTTGACCGCATTGTGAAG	0.433000													37	154					0	0	0.006230	0	0
PCK1	5105	broad.mit.edu	37	20	56137828	56137828	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:56137828G>A	ENST00000319441.4	+	4	647	c.483G>A	c.(481-483)acG>acA	p.T161T	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.T29T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	161					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCGAGCTGACGGATTCACCCT	0.612000													4	46					0	0	0.009096	0	0
TTC27	55622	broad.mit.edu	37	2	33012122	33012122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:33012122A>G	ENST00000317907.4	+	16	2135	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	635							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGGAAAACTACATCCTCACC	0.393000													11	50					0	0	0.008291	0	0
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567000													8	49					0	0	0.004482	0	0
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318000													4	33					0	0	0.000602	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	32					0	0	0.000602	0	0
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587000													21	90					0	0	0.003330	0	0
HELZ2	85441	broad.mit.edu	37	20	62192986	62192986	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:62192986G>A	ENST00000467148.1	-	12	6873	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S	HELZ2_ENST00000427522.2_Silent_p.S1699S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCTCCCGGGGGCTCTTCCTGA	0.657000													42	62					0	0	0.006230	0	0
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E372G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612000													2	8					0	0	0.004672	0	0
FAM63B	54629	broad.mit.edu	37	15	59064131	59064131	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:59064131C>T	ENST00000559228.1	+	1	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM63B_ENST00000450403.2_Silent_p.F179F			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	179										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTCGTTCTCTAACCTGC	0.647000													11	19					0	0	0.010729	0	0
ANXA9	8416	broad.mit.edu	37	1	150967079	150967079	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:150967079G>A	ENST00000368947.4	+	13	1355	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	293					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|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)			ACCAAGTCCTGATTCGCATCC	0.483000													12	149					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179451387	179451387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179451387C>T	ENST00000589042.1	-	308	64465	c.64241G>A	c.(64240-64242)cGc>cAc	p.R21414H	TTN_ENST00000342175.6_Missense_Mutation_p.R12541H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19773H|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGTCCAGCGATCTGCAGG	0.468000													26	73					0	0	0.003954	0	0
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562000													15	34					0	0	0.004007	0	0
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000458204.1_Silent_p.G478G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|ELN_ENST00000380562.4_Silent_p.G494G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	517	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCTCCTGGTGTCGGTGTGG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						9	175					0	0	0.005443	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677000													13	79					0	0	0.003163	0	0
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398000													5	83					0	0	0.001984	0	0
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:32423392C>T	ENST00000379923.1	+	10	1252	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000309951.5_Missense_Mutation_p.P349L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398000													6	43					0	0	0.001984	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													18	46					0	0	0.006122	0	0
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577000													6	25					0	0	0.003080	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692000													15	23					0	0	0.002450	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:112900135G>A	ENST00000374530.3	+	8	2491	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		540							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGAGAAGGCGTCTCCAAGTC	0.532000													5	46					0	0	0.000602	0	0
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I|RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403000													8	28					1.12685e-05	1.23641e-05	0.004482	1	0
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677000													10	8					0	0	0.008291	0	0
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					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)			TCAGTTGTGTGATATAAAATT	0.303000													17	20					0	0	0.004990	0	0
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697000													4	11					0	0	0.009096	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	14					0	0	0.004672	0	0
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403000													11	52					0	0	0.001855	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:67172899G>A	ENST00000312390.5	+	4	311	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000542590.1_Silent_p.P94P|TBC1D10C_ENST00000526387.1_Silent_p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657000													13	38					0	0	0.002450	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667000													7	39					0	0	0.001984	0	0
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000551923.1_Silent_p.F67F|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323000													4	52					0	0	0.000602	0	0
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582000													8	37					2.17888e-05	2.35796e-05	0.006214	1	0
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537000													13	121					9.31168e-06	1.03609e-05	0.001855	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:159819580G>A	ENST00000497452.1	-	0	517																											CATCTTGACCGCATTGTGAAG	0.433000													37	154					0	0	0.006230	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423000													6	38					0	0	0.001168	0	0
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:114499269G>C	ENST00000513154.1	-	2	534	c.208C>G	c.(208-210)Cga>Gga	p.R70G	TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453000													5	49					0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:80646578G>A	ENST00000466387.1	+	13	1866	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTAGCTTCGGAAAGCAGTG	0.358000													8	51					0	0	0.003080	0	0
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:45929029G>C	ENST00000348697.2	+	6	778	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R			P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637000													8	35					0	0	0.003080	0	0
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308000													9	40					0	0	0.004482	0	0
TTC7A	57217	broad.mit.edu	37	2	47238537	47238537	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:47238537T>C	ENST00000319190.5	+	11	1723	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	452							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCGTGCCCCTGATGGCCGCG	0.637000													3	14					0	0	0.004672	0	0
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567000													8	49					0	0	0.004482	0	0
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448000													12	50					0	0	0.010729	0	0
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587000													21	90					0	0	0.003330	0	0
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													4	68					0.00198382	0.00208962	0.001984	1	0
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000320492.7_Silent_p.V408V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000357036.5_Silent_p.V494V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	518	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCTGGTGTCGGTGTGGCTC	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	175					0	0	0.009535	0	0
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGGATAATTTAGTTCG	0.264000										HNSCC(35;0.089)			8	75					0	0	0.008291	0	0
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:151857487C>T	ENST00000367290.5	+	2	181	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433000													5	57					0	0	0.001168	0	0
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363000													11	87					0.000673444	0.000718947	0.008291	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677000													13	79					0	0	0.003163	0	0
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612000													2	8					0	0	0.004672	0	0
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562000													15	34					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:179606565C>T	ENST00000589042.1	-	48	11619	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3482			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(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)			GACAAAAGTTCAAGTGTTTCA	0.373000													4	12					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	80					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627000													4	38					0	0	0.000602	0	0
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343000													21	57					0	0	0.008871	0	0
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.009096	0	0
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632000													3	14					0	0	0.004672	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418000													6	48					0	0	0.001984	0	0
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000320492.7_Silent_p.G409G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000357036.5_Silent_p.G495G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						16	173					0	0	0.013114	0	0
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:17163638C>T	ENST00000593360.1	-	9	2761	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	80					0	0	0.004007	0	0
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:127796911C>T	ENST00000556132.1	-	6	3124	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	754						integral to membrane											GCGTCGCTCTCGGCGTCGCTG	0.701000													11	83					0	0	0.013537	0	0
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					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)	CGGGCTGGCAGCCTGTGGCGT	0.592000													11	51					0	0	0.013537	0	0
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000320492.7_Silent_p.G407G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000357036.5_Silent_p.G493G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	517	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCTCCTGGTGTCGGTGTGG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						9	175					0	0	0.005443	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	32					0	0	0.004672	0	0
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:32017676G>A	ENST00000382151.2	-	4	834	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L139L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602000													5	29					0	0	0.001168	0	0
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:96121595C>T	ENST00000296754.3	-	13	2097	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413000													4	49					0	0	0.009096	0	0
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CCCCCCCGTCCGCGCATCGCG	0.672000													4	53					0	0	0.000602	0	0
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398000													5	83					0	0	0.001984	0	0
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:32423392C>T	ENST00000379923.1	+	10	1252	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000309951.5_Missense_Mutation_p.P349L|ACO1_ENST00000541043.1_Missense_Mutation_p.P250L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398000													6	43					0	0	0.001984	0	0
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597000													6	46					0	0	0.001168	0	0
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393000													8	77					0	0	0.004482	0	0
IRX1	79192	broad.mit.edu	37	5	3600115	3600115	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:3600115G>A	ENST00000302006.3	+	2	1105	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ccggggcgccgcTGCAACACC	0.721000													5	9					0	0	0.000602	0	0
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:31635648G>C	ENST00000375880.2	+	3	194	c.76G>C	c.(76-78)Gat>Cat	p.D26H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H																							CTGACAGGTGGATGAAGACTA	0.458000													13	20					0	0	0.013537	0	0
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:45555410G>C	ENST00000544944.2	+	2	873	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562000													4	49					0	0	0.009096	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													18	46					0	0	0.006122	0	0
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M|UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318000													4	33					0	0	0.000602	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597000													9	13					0	0	0.006214	0	0
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				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)	TTGTGTGGCTCCCACACACTG	0.433000													18	93					0	0	0.007413	0	0
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308000													8	34					0	0	0.006214	0	0
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTGGTACTGGGGTCCGCGTCG	0.711000													3	23					0	0	0.009096	0	0
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577000													6	25					0	0	0.003080	0	0
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373000													10	58					0	0	0.010729	0	0
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		216						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTTACTGCAGCCAAGAGGACC	0.378000													9	51					0	0	0.008291	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692000													15	23					0	0	0.002450	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084929	32084931	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:32084929_32084931delGAG	ENST00000403528.2	+	3	521_523	c.136_138delGAG	c.(136-138)del	p.E46del	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000373706.5_In_Frame_Del_p.E46del	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	46					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AAAACAGTATGAGTGGGTCCTCA	0.606													27	110	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1424634	1424636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:1424634_1424636delAGA	ENST00000446702.2	+	18	2802_2804	c.2175_2177delAGA	c.(2173-2178)cca>cc	p.PE725del	CNTN6_ENST00000350110.2_In_Frame_Del_p.PE725del|CNTN6_ENST00000539053.1_In_Frame_Del_p.PE653del			Q9UQ52	CNTN6_HUMAN	contactin 6	725	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTCAATTCCAGAAGAACTGCAG	0.384													12	29	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													3	6	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142490160	142490161	+	RNA	INS	-	-	C	rs58308413	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:142490160_142490161insC	ENST00000430863.1	-	0	939					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCTGTGCTTGACCCCCCCCAAG	0.614													5	4	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:446516_446517insCA	ENST00000432829.2	+	44	5839_5840	c.5523_5524insCA	c.(5521-5526)ctatgafs	p.*1842fs	DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910					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)		GGGGAGAGCTGCATGAGCAGTA	0.545													12	51	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttg>tt	p.LHSE510del		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445													8	29	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													27	605	---	---	---	---					
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cafs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652													8	12	---	---	---	---					
LZTS3	9762	broad.mit.edu	37	20	3146179	3146179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:3146179delG	ENST00000329152.3	-	2	2684	c.1287delC	c.(1285-1287)gcfs	p.A429fs	LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs	NM_014731.2	NP_055546.1																					GCAGGAAGTCGGCCTGCTCCT	0.662													20	31	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													3	6	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:446516_446517insCA	ENST00000432829.2	+	44	5839_5840	c.5523_5524insCA	c.(5521-5526)ctatgafs	p.*1842fs	DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910					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)		GGGGAGAGCTGCATGAGCAGTA	0.545													12	51	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttg>tt	p.LHSE510del		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445													8	29	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													27	605	---	---	---	---					
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cafs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652													8	12	---	---	---	---					
