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
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	89					0	0	0.000602214	0	0
TCTN2	79867	broad.mit.edu	37	12	124172678	124172678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:124172678G>C	ENST00000303372.5	+	7	973	c.845G>C	c.(844-846)gGa>gCa	p.G282A	TCTN2_ENST00000426174.2_Missense_Mutation_p.G281A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	282					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TACAAACAAGGAGATCCCATT	0.353000													14	102					0	0	0.000219431	0	0
USP49	25862	broad.mit.edu	37	6	41773790	41773790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:41773790G>A	ENST00000394253.3	-	3	1261	c.932C>T	c.(931-933)tCg>tTg	p.S311L	USP49_ENST00000297229.2_Missense_Mutation_p.S311L|USP49_ENST00000373009.3_Missense_Mutation_p.S311L|USP49_ENST00000373006.1_Missense_Mutation_p.S311L|USP49_ENST00000373010.1_Missense_Mutation_p.S311L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	311					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCGTGGCCGAGCTGTTGGT	0.572000													7	72					0	0	0.000157383	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656522	46656522	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:46656522T>C	ENST00000253255.5	-	1	2697	c.2698A>G	c.(2698-2700)Aat>Gat	p.N900D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	900	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGGGACCATTTGCAGACAGA	0.403000													12	91					0	0	0.00185496	0	0
YIF1B	90522	broad.mit.edu	37	19	38799436	38799436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:38799436C>T	ENST00000392124.3	-	4	756	c.442G>A	c.(442-444)Gat>Aat	p.D148N	YIF1B_ENST00000591755.1_Missense_Mutation_p.D176N|YIF1B_ENST00000592694.1_Missense_Mutation_p.D148N|YIF1B_ENST00000592246.1_Missense_Mutation_p.D113N|YIF1B_ENST00000591784.1_Missense_Mutation_p.D148N|YIF1B_ENST00000339413.6_Missense_Mutation_p.D179N|YIF1B_ENST00000337679.8_Missense_Mutation_p.D176N|YIF1B_ENST00000329420.8_Missense_Mutation_p.D164N	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	179						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTACCTATCCTGGGTCCCC	0.567000													9	248					0	0	0.000673444	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													4	18					0	0	0.00116845	0	0
KIF18B	146909	broad.mit.edu	37	17	43005428	43005428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:43005428C>G	ENST00000587309.1	-	13	2301	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	KIF18B_ENST00000593135.1_Missense_Mutation_p.E748Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.E769Q|KIF18B_ENST00000438933.2_Missense_Mutation_p.E760Q|KIF18B_ENST00000339151.4_Missense_Mutation_p.E751Q	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGCTCAGCTCCTGGGGTATT	0.577000													3	32					0	0	6.4e-05	0	0
RNLS	55328	broad.mit.edu	37	10	90034742	90034742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:90034742C>T	ENST00000371947.3	-	7	2263	c.924G>A	c.(922-924)atG>atA	p.M308I	RNLS_ENST00000437752.1_Missense_Mutation_p.M225I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATCGCCATCATCCAGGGGC	0.448000													6	54					0	0	0.000157383	0	0
TMC8	147138	broad.mit.edu	37	17	76128900	76128900	+	Silent	SNP	G	G	T	rs150261314		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:76128900G>T	ENST00000318430.5	+	5	854	c.480G>T	c.(478-480)ccG>ccT	p.P160P	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	160						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCAGTCCCCGCCTGGCGTTT	0.597000													6	102					0.000157383	0.000907981	0.000157383	1	0
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:102067320G>A	ENST00000549145.1	+	25	2847	c.2747G>A	c.(2746-2748)aGg>aAg	p.R916K	MYBPC1_ENST00000392934.3_Missense_Mutation_p.R872K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R885K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R873K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R866K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R859K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R871K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R786K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R885K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	903	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAGCAGAGAGGAGCCACTCT	0.388000													44	187					0	0	0.000781405	0	0
NUP98	4928	broad.mit.edu	37	11	3697545	3697545	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:3697545A>G	ENST00000324932.7	-	33	5667	c.5247T>C	c.(5245-5247)gaT>gaC	p.D1749D	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1675D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1766					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGAGGTTCTATCAGGAGGAT	0.567000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								12	89					0	0	0.00185496	0	0
AQP7	364	broad.mit.edu	37	9	33385823	33385823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:33385823G>A	ENST00000541274.1	-	5	621	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	AQP7_ENST00000377425.4_Silent_p.I132I|AQP7_ENST00000539936.1_Silent_p.I189I|AQP7_ENST00000537089.1_Silent_p.I97I			O14520	AQP7_HUMAN	aquaporin 7	296					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGGTCCGTGATGGCGAAGA	0.622000													5	74					0	0	0.00116845	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143717	48143717	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:48143717G>A	ENST00000405493.2	-	8	896	c.687C>T	c.(685-687)acC>acT	p.T229T	RAPGEF3_ENST00000449771.2_Silent_p.T271T|RAPGEF3_ENST00000549151.1_Silent_p.T229T|RAPGEF3_ENST00000548919.1_Silent_p.T229T|RAPGEF3_ENST00000171000.4_Silent_p.T229T|RAPGEF3_ENST00000395358.3_Silent_p.T271T|RAPGEF3_ENST00000389212.3_Silent_p.T271T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	229					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACTTACACACGGTCCCTGCCT	0.567000													23	301					0	0	0.00047179	0	0
TRGC1	6966	broad.mit.edu	37	7	38305122	38305122	+	RNA	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr7:38305122C>G	ENST00000443402.2	-	0	157					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					ATCCCAGAATCGTGTTGCTCT	0.418000													6	175					0	0	0.000157383	0	0
ATP2B4	493	broad.mit.edu	37	1	203652440	203652440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:203652440G>A	ENST00000357681.5	+	2	1230	c.107G>A	c.(106-108)cGt>cAt	p.R36H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R36H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	36					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTGCGTTCAAGGGAT	0.522000													10	165					0	0	0.000442599	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962166	26962166	+	Silent	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:26962166C>A	ENST00000528896.2	-	16	2513	c.2439G>T	c.(2437-2439)cgG>cgT	p.R813R	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.R670R|KIAA0100_ENST00000389003.3_Silent_p.R670R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527000													15	144					1.52009e-12	9.50057e-12	0.000308642	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	20					0	0	0.000157383	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	60					0	0	0.000219431	0	0
PRKD1	5587	broad.mit.edu	37	14	30107997	30107997	+	Silent	SNP	C	C	T	rs144272752	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:30107997C>T	ENST00000331968.5	-	5	1039	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PRKD1_ENST00000415220.2_Silent_p.P278P|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAATGTGTGCGGCACTTTAA	0.468000													8	44					0	0	0.000157383	0	0
RGPD4	285190	broad.mit.edu	37	2	108488226	108488226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488226G>A	ENST00000408999.3	+	20	3843	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1256K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1256					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATTTAAGGGAAGATGCTTT	0.453000													67	388					0	0	0.000781405	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	84					0	0	0.00116845	0	0
RIMS2	9699	broad.mit.edu	37	8	104709390	104709390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:104709390C>T	ENST00000406091.3	+	2	253	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	116	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCAAGAACAGAAGGGTGA	0.413000										HNSCC(12;0.0054)			11	78					0	0	0.00136819	0	0
KAT5	10524	broad.mit.edu	37	11	65482118	65482118	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:65482118C>T	ENST00000341318.4	+	7	1077	c.843C>T	c.(841-843)tcC>tcT	p.S281S	KAT5_ENST00000530446.1_Silent_p.S229S|KAT5_ENST00000534650.1_Silent_p.S37S|KAT5_ENST00000377046.3_Silent_p.S248S|KAT5_ENST00000352980.4_Silent_p.S196S	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	248					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGTACTTCTCCCCGTACCCAC	0.562000													25	136					0	0	0.000586117	0	0
FAT4	79633	broad.mit.edu	37	4	126241929	126241929	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:126241929C>G	ENST00000394329.3	+	1	4376	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1455	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATGGTCAACTATCCTACAC	0.393000													5	104					0	0	0.000602214	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19282753	19282753	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:19282753T>G	ENST00000538714.1	+	1	24	c.20T>G	c.(19-21)cTg>cGg	p.L7R	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.L7R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.L7R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L7R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	7							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTGAACCTGGAGTGGATC	0.692000													3	21					0	0	6.4e-05	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	67					0	0	6.4e-05	0	0
FAM13C	220965	broad.mit.edu	37	10	61014170	61014170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:61014170G>A	ENST00000373867.3	-	12	1486	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F	FAM13C_ENST00000435852.2_Missense_Mutation_p.L424F|FAM13C_ENST00000373868.2_Missense_Mutation_p.L424F|FAM13C_ENST00000442566.3_Missense_Mutation_p.L445F|FAM13C_ENST00000277705.6_Missense_Mutation_p.L445F|FAM13C_ENST00000422313.2_Missense_Mutation_p.L424F|FAM13C_ENST00000419214.2_Missense_Mutation_p.L326F|FAM13C_ENST00000468840.2_Missense_Mutation_p.L341F	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	424										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGTCATAAAGCGGCTTTATG	0.348000													7	115					0	0	0.000274275	0	0
KLF1	10661	broad.mit.edu	37	19	12997871	12997871	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:12997871G>A	ENST00000264834.4	-	1	124	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	28	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCACCTTGAGGAAGTCAT	0.622000													7	59					0	0	8.12818e-05	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789871	26789871	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:26789871A>T	ENST00000376236.4	+	5	739	c.284A>T	c.(283-285)cAt>cTt	p.H95L	APBB1IP_ENST00000356785.4_Missense_Mutation_p.H95L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	95					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATCAACATCATTCAGCATCT	0.448000													9	109					0	0	0.000673444	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541833	133541833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:133541833C>T	ENST00000409261.1	-	14	2924	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGAGCTCTCAGTCTTCATG	0.537000													8	142					0	0	0.000157383	0	0
SOS1	6654	broad.mit.edu	37	2	39250272	39250272	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:39250272C>T	ENST00000426016.1	-	11	1383	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	SOS1_ENST00000402219.2_Missense_Mutation_p.E433K|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E433K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	433			E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E433K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTTTCCCTCCCAACCATCA	0.388000									Noonan syndrome				5	78					0	0	0.000602214	0	0
OR4N2	390429	broad.mit.edu	37	14	20296393	20296393	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:20296393C>T	ENST00000315947.1	+	1	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCGCCCCTTCAGGGCTTTCC	0.458000													15	93					0	0	0.000566183	0	0
GLYR1	84656	broad.mit.edu	37	16	4861236	4861236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:4861236G>T	ENST00000321919.9	-	15	1598	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	GLYR1_ENST00000436648.5_Missense_Mutation_p.R427S|GLYR1_ENST00000591451.1_Missense_Mutation_p.R502S|GLYR1_ENST00000381983.3_Missense_Mutation_p.R491S	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	508					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATGGCTAAGCGGAGATCCTTC	0.507000													14	130					1.99824e-07	1.2342e-06	0.000566183	1	0
OFD1	8481	broad.mit.edu	37	X	13762639	13762639	+	Splice_Site	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:13762639G>T	ENST00000380567.1	+	7	969		c.e7+1		OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000380550.3_Splice_Site			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GATTCTCTGGGTAATTATAGC	0.323000													3	11					6.4e-05	0.000377528	6.4e-05	1	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433000													4	62					0	0	0.00024832	0	0
MKRN3	7681	broad.mit.edu	37	15	23811808	23811808	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr15:23811808C>G	ENST00000314520.3	+	1	1355	c.879C>G	c.(877-879)caC>caG	p.H293Q	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	293	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGAAGCACACGAGAAAGATA	0.532000													3	38					0	0	6.4e-05	0	0
GAS8	2622	broad.mit.edu	37	16	90097737	90097737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:90097737G>C	ENST00000268699.4	+	3	243	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	GAS8_ENST00000536122.1_Missense_Mutation_p.E16Q|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	41	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CATCCGGGAGGAGCTGGACCG	0.647000													3	51					0	0	6.4e-05	0	0
TRIM13	10206	broad.mit.edu	37	13	50586806	50586806	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:50586806G>C	ENST00000378182.3	+	2	1468	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TRIM13_ENST00000298772.5_Missense_Mutation_p.E247Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E247Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	244					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATGTGTCAGAACCCATTGT	0.423000													4	53					0	0	0.00024832	0	0
DDX52	11056	broad.mit.edu	37	17	36002253	36002253	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:36002253C>T	ENST00000394367.3	-	0	209				DDX52_ENST00000349699.2_Missense_Mutation_p.V58M			Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCTCCACACACACCTGGGACA	0.413000													12	76					0	0	0.000978159	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386794	20386794	+	RNA	SNP	A	A	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:20386794A>C	ENST00000430523.3	-	0	1718					NR_003563.1																						CCACCCCCAAAAGGCAGGTTG	0.597000													3	15					0	0	6.4e-05	0	0
FLT3	2322	broad.mit.edu	37	13	28578200	28578200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:28578200C>T	ENST00000380982.4	-	24	3061	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000537084.1_Missense_Mutation_p.E950K|FLT3_ENST00000241453.7_Missense_Mutation_p.E991K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	991					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACGAATCTTCGACCTGAGCC	0.453000			"""Mis, O"""		"""AML, ALL"""								7	38					0	0	0.000274275	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253511	48253511	+	Silent	SNP	C	C	G	rs148201586		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:48253511C>G	ENST00000246802.5	+	3	404	c.366C>G	c.(364-366)ctC>ctG	p.L122L	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	122						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACCTCATCCTCGAGAACACAT	0.522000													3	50					0	0	0.00024832	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502717	64502717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:64502717G>C	ENST00000355086.3	+	16	2343	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D544H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D584H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	607	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTAGGAATAGATAATCTCTA	0.443000													12	89					0	0	0.00136819	0	0
TSEN34	79042	broad.mit.edu	37	19	54695773	54695773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:54695773G>A	ENST00000396383.1	+	3	756	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TSEN34_ENST00000302937.4_Missense_Mutation_p.E149K|TSEN34_ENST00000429671.2_Missense_Mutation_p.E149K|TSEN34_ENST00000396388.2_Missense_Mutation_p.E149K			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGGATGAGACCAGTGA	0.597000													16	69					0	0	0.00074312	0	0
MYH11	4629	broad.mit.edu	37	16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:15826519C>T	ENST00000338282.6	-	27	3659	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1192K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1192K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1185K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1185K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1185					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCGTCTCTTCATCCAGGGCC	0.592000			T	CBFB	AML								10	108					0	0	0.000442599	0	0
UBR5	51366	broad.mit.edu	37	8	103358503	103358503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:103358503C>T	ENST00000520539.1	-	7	1303	c.697G>A	c.(697-699)Gat>Aat	p.D233N	UBR5_ENST00000220959.4_Missense_Mutation_p.D233N|UBR5_ENST00000521922.1_Missense_Mutation_p.D233N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	233					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)			TCATCCCCATCATCTCCATCT	0.433000													7	99					0	0	0.000157383	0	0
TAGAP	117289	broad.mit.edu	37	6	159463226	159463226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:159463226G>T	ENST00000367066.3	-	5	530	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.L67I|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCAGGGGAGAGCCTTCTCATG	0.448000													9	217					0.000274275	0.00156516	0.000274275	1	0
RGPD4	285190	broad.mit.edu	37	2	108488225	108488225	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488225G>A	ENST00000408999.3	+	20	3842	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R	RGPD4_ENST00000354986.4_Silent_p.R1255R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1255					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATTTAAGGGAAGATGCTT	0.448000													69	392					0	0	0.000781405	0	0
ENO1	2023	broad.mit.edu	37	1	8928111	8928111	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:8928111C>G	ENST00000234590.4	-	5	365	c.246G>C	c.(244-246)ctG>ctC	p.L82L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	82					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTGACGTTCAGTTTCTACG	0.473000													21	304					0	0	0.00188189	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													3	88					0	0	0.00116845	0	0
PGBD1	84547	broad.mit.edu	37	6	28269233	28269233	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:28269233C>G	ENST00000405948.2	+	7	2022	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	PGBD1_ENST00000259883.3_Silent_p.L534L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	534					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAATTTCCTCTTGTATGCTC	0.353000													3	85					0	0	6.4e-05	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306123	27306123	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:27306123C>G	ENST00000380320.4	+	4	2183	c.1684C>G	c.(1684-1686)Ctc>Gtc	p.L562V		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	562					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGAATCTCACTGCGGC	0.642000													7	51					0	0	8.12818e-05	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698963	29698963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:29698963C>G	ENST00000304863.4	-	2	739	c.317G>C	c.(316-318)aGc>aCc	p.S106T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AGCCTCGCTGCTTTCTCTTGA	0.478000													3	115					0	0	6.4e-05	0	0
LZTS3	9762	broad.mit.edu	37	20	3147473	3147473	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr20:3147473C>T	ENST00000329152.3	-	1	1734	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	LZTS3_ENST00000360342.3_Missense_Mutation_p.G113S|LZTS3_ENST00000337576.5_Missense_Mutation_p.G113S	NM_014731.2	NP_055546.1																					ACCACGTTGCCACAGACATCG	0.652000													5	49					0	0	0.000602214	0	0
MED17	9440	broad.mit.edu	37	11	93528169	93528169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:93528169A>G	ENST00000251871.3	+	6	1242	c.955A>G	c.(955-957)Aaa>Gaa	p.K319E	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	319					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTCAAATTAAATCACAAGT	0.418000													4	114					0	0	0.00024832	0	0
PLCE1	51196	broad.mit.edu	37	10	96028705	96028705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:96028705G>A	ENST00000260766.3	+	17	4935	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1126Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1126Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1434Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1434	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAAGGCTGTCGAAGTGTAGAA	0.488000													10	69					0	0	0.000442599	0	0
MYOM2	9172	broad.mit.edu	37	8	2020522	2020522	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:2020522C>G	ENST00000262113.4	+	9	1032	c.891C>G	c.(889-891)ctC>ctG	p.L297L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	297	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTCACTCTCAAGTGCACCA	0.617000													3	31					0	0	0.00024832	0	0
RBM15B	29890	broad.mit.edu	37	3	51430468	51430468	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:51430468G>A	ENST00000323686.4	+	1	1738	c.1638G>A	c.(1636-1638)ttG>ttA	p.L546L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	546					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACTTTTTTGGAAGGGGACT	0.627000													6	55					0	0	0.000157383	0	0
RGAG1	57529	broad.mit.edu	37	X	109694739	109694739	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:109694739C>G	ENST00000465301.2	+	3	1140	c.894C>G	c.(892-894)ctC>ctG	p.L298L	RGAG1_ENST00000540313.1_Silent_p.L298L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTACCCCGCTCATGTCAGATC	0.488000													3	115					0	0	6.4e-05	0	0
HTRA1	5654	broad.mit.edu	37	10	124273755	124273755	+	Silent	SNP	C	C	A	rs111580234	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:124273755C>A	ENST00000368984.3	+	9	1451	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	441	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.S441S(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACAGTCCGTGGTCTCCG	0.473000													6	273					5.18039e-06	3.09057e-05	0.000157383	1	0
KIF1B	23095	broad.mit.edu	37	1	10357284	10357284	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:10357284C>A	ENST00000377086.1	+	22	2297	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	KIF1B_ENST00000377093.4_Missense_Mutation_p.L653I|KIF1B_ENST00000377083.1_Missense_Mutation_p.L653I|KIF1B_ENST00000263934.6_Missense_Mutation_p.L653I|KIF1B_ENST00000377081.1_Missense_Mutation_p.L699I			O60333	KIF1B_HUMAN	kinesin family member 1B	699					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCAGATCTTCTTTTGGAGCA	0.393000													19	143					2.37509e-13	1.50232e-12	0.00152264	1	0
ARID1B	57492	broad.mit.edu	37	6	157528758	157528758	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:157528758C>T	ENST00000346085.5	+	20	6484	c.6483C>T	c.(6481-6483)agC>agT	p.S2161S	ARID1B_ENST00000275248.4_Silent_p.S2143S|ARID1B_ENST00000350026.5_Silent_p.S2148S|ARID1B_ENST00000367148.1_Silent_p.S2201S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2148					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTTGATAAGCTTCCTAGAGG	0.552000													7	139					0	0	8.12818e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100552150	100552150	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr7:100552150C>G	ENST00000319509.7	+	1	901	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGCTCCTCTCTGACCACAGC	0.468000													11	451					0	0	0.000308642	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058381	152058381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:152058381C>G	ENST00000368806.1	-	3	1841	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	593							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGGGTATCTGGGTTATTA	0.542000													11	181					0	0	0.000673444	0	0
EP300	2033	broad.mit.edu	37	22	41513521	41513521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:41513521G>T	ENST00000263253.7	+	2	1644	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	142					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCACTAGTGGACCAAATCAG	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	40					5.9392e-07	3.62567e-06	0.00116845	1	0
TCHP	84260	broad.mit.edu	37	12	110345367	110345367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345367G>A	ENST00000312777.5	+	6	776	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TCHP_ENST00000405876.4_Missense_Mutation_p.E188K	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	188	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CAAACGGTATGAAAATGAATA	0.507000													8	104					0	0	0.000442599	0	0
KIAA1009	22832	broad.mit.edu	37	6	84872909	84872909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:84872909C>T	ENST00000403245.3	-	19	2580	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	KIAA1009_ENST00000257766.4_Missense_Mutation_p.M746I|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	822					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTTTCTTCATTTTTTCGA	0.333000													13	119					0	0	0.000219431	0	0
NELFB	25920	broad.mit.edu	37	9	140150358	140150358	+	Splice_Site	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:140150358G>C	ENST00000343053.4	+	2	439		c.e2-1			NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GGCTTCCTCAGACAGAGAATG	0.632000													11	113					0	0	0.00185496	0	0
HLA-A	3105	broad.mit.edu	37	6	29912175	29912175	+	Splice_Site	SNP	G	G	T	rs41547331		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:29912175G>T	ENST00000396634.1	+	6	1236		c.e6+1		HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGAGATGGGGTAAGGAGGGA	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	37					8.12818e-05	0.000474144	8.12818e-05	1	0
FXR1	8087	broad.mit.edu	37	3	180685878	180685878	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:180685878C>G	ENST00000357559.4	+	14	1622	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	FXR1_ENST00000491062.1_Missense_Mutation_p.S364C|FXR1_ENST00000468861.1_Missense_Mutation_p.S328C|FXR1_ENST00000445140.2_Missense_Mutation_p.S413C|FXR1_ENST00000480918.1_Missense_Mutation_p.S400C|FXR1_ENST00000305586.7_Missense_Mutation_p.S328C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	413					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GAAACGGAATCTGAGCGTAAA	0.448000													14	83					0	0	0.000308642	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	87					0	0	0.00024832	0	0
SRCAP	10847	broad.mit.edu	37	16	30721369	30721369	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:30721369C>G	ENST00000262518.4	+	8	1439	c.1054C>G	c.(1054-1056)Caa>Gaa	p.Q352E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q352E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q352E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	352	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCTCTCAAACCCCCTC	0.577000													4	29					0	0	0.000602214	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103062954	103062954	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:103062954C>G	ENST00000375735.2	+	47	7813	c.7669C>G	c.(7669-7671)Caa>Gaa	p.Q2557E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2557E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2557					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATCAGTGTTTCAAGGAGATTG	0.338000													4	24					0	0	0.000602214	0	0
TAF7L	54457	broad.mit.edu	37	X	100524182	100524182	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:100524182C>T	ENST00000372907.3	-	13	1399	c.1388G>A	c.(1387-1389)tGa>tAa	p.*463*	TAF7L_ENST00000356784.1_Silent_p.*377*|TAF7L_ENST00000324762.6_Silent_p.*303*|TAF7L_ENST00000372905.2_Silent_p.*303*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	0					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTCTCCTCACTTCTTCAG	0.448000													16	76					0	0	0.00074312	0	0
CNGA2	1260	broad.mit.edu	37	X	150911102	150911102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:150911102C>T	ENST00000329903.4	+	5	610	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCATCCGATTGCGCAC	0.512000													20	57					0	0	0.00188189	0	0
FAT1	2195	broad.mit.edu	37	4	187539417	187539417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:187539417G>A	ENST00000441802.2	-	10	8532	c.8323C>T	c.(8323-8325)Cag>Tag	p.Q2775*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2775	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAAAACTGATACCACTTA	0.453000										HNSCC(5;0.00058)			21	237					0	0	0.00188189	0	0
F13B	2165	broad.mit.edu	37	1	197021931	197021931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:197021931C>G	ENST00000367412.1	-	9	1431	c.1388G>C	c.(1387-1389)aGa>aCa	p.R463T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	463	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATGTTATTTCTGTTCATGTA	0.279000													8	71					0	0	0.000274275	0	0
VIPAS39	63894	broad.mit.edu	37	14	77901690	77901690	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:77901690C>A	ENST00000553888.1	-	14	1469	c.959G>T	c.(958-960)cGa>cTa	p.R320L	VIPAS39_ENST00000327028.4_Missense_Mutation_p.R307L|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R320L|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R346L|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R271L|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R320L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.R320Q(1)									GGGGTGCTTTCGGAAGATCTC	0.463000													9	106					3.07112e-06	1.85326e-05	0.000978159	1	0
SLFN11	91607	broad.mit.edu	37	17	33680115	33680115	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:33680115T>A	ENST00000394566.1	-	7	2238	c.1966A>T	c.(1966-1968)Aga>Tga	p.R656*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.R656*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	656						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTTTTCTCTTAGGAAAGTT	0.398000													11	101					0	0	0.000673444	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	89					0	0	0.000602	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	86					0	0	0.001168	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656522	46656522	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr22:46656522T>C	ENST00000253255.5	-	1	2697	c.2698A>G	c.(2698-2700)Aat>Gat	p.N900D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	900	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGGGACCATTTGCAGACAGA	0.403000													12	91					0	0	0.001855	0	0
YIF1B	90522	broad.mit.edu	37	19	38799436	38799436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:38799436C>T	ENST00000392124.3	-	4	756	c.442G>A	c.(442-444)Gat>Aat	p.D148N	YIF1B_ENST00000591755.1_Missense_Mutation_p.D176N|YIF1B_ENST00000339413.6_Missense_Mutation_p.D179N|YIF1B_ENST00000337679.8_Missense_Mutation_p.D176N|YIF1B_ENST00000329420.8_Missense_Mutation_p.D164N|YIF1B_ENST00000592694.1_Missense_Mutation_p.D148N|YIF1B_ENST00000592246.1_Missense_Mutation_p.D113N|YIF1B_ENST00000591784.1_Missense_Mutation_p.D148N	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	179						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTACCTATCCTGGGTCCCC	0.567000													9	248					0	0	0.008291	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													4	18					0	0	0.001168	0	0
KIF18B	146909	broad.mit.edu	37	17	43005428	43005428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:43005428C>G	ENST00000587309.1	-	13	2301	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	KIF18B_ENST00000339151.4_Missense_Mutation_p.E751Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.E769Q|KIF18B_ENST00000593135.1_Missense_Mutation_p.E748Q|KIF18B_ENST00000438933.2_Missense_Mutation_p.E760Q	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGCTCAGCTCCTGGGGTATT	0.577000													3	32					0	0	0.004672	0	0
MYH11	4629	broad.mit.edu	37	16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr16:15826519C>T	ENST00000338282.6	-	27	3659	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.E1185K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1192K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1192K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1185K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1185					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCGTCTCTTCATCCAGGGCC	0.592000			T	CBFB	AML								10	108					0	0	0.006214	0	0
RNLS	55328	broad.mit.edu	37	10	90034742	90034742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr10:90034742C>T	ENST00000371947.3	-	7	2263	c.924G>A	c.(922-924)atG>atA	p.M308I	RNLS_ENST00000437752.1_Missense_Mutation_p.M225I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATCGCCATCATCCAGGGGC	0.448000													6	54					0	0	0.003080	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:102067320G>A	ENST00000549145.1	+	25	2847	c.2747G>A	c.(2746-2748)aGg>aAg	p.R916K	MYBPC1_ENST00000361466.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R871K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R859K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R885K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R873K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R866K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R885K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R872K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R786K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R910K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	903	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAGCAGAGAGGAGCCACTCT	0.388000													44	187					0	0	0.003610	0	0
AQP7	364	broad.mit.edu	37	9	33385823	33385823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr9:33385823G>A	ENST00000541274.1	-	5	621	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	AQP7_ENST00000537089.1_Silent_p.I97I|AQP7_ENST00000377425.4_Silent_p.I132I|AQP7_ENST00000539936.1_Silent_p.I189I			O14520	AQP7_HUMAN	aquaporin 7	296					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGGTCCGTGATGGCGAAGA	0.622000													5	74					0	0	0.001168	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	57					0	0	0.000248	0	0
TRGC1	6966	broad.mit.edu	37	7	38305122	38305122	+	RNA	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr7:38305122C>G	ENST00000443402.2	-	0	157					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					ATCCCAGAATCGTGTTGCTCT	0.418000													6	175					0	0	0.003080	0	0
ATP2B4	493	broad.mit.edu	37	1	203652440	203652440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:203652440G>A	ENST00000357681.5	+	2	1230	c.107G>A	c.(106-108)cGt>cAt	p.R36H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R36H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	36					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTGCGTTCAAGGGAT	0.522000													10	165					0	0	0.006214	0	0
NUP98	4928	broad.mit.edu	37	11	3697545	3697545	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr11:3697545A>G	ENST00000324932.7	-	33	5667	c.5247T>C	c.(5245-5247)gaT>gaC	p.D1749D	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1675D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1766					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGAGGTTCTATCAGGAGGAT	0.567000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								12	89					0	0	0.001855	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962166	26962166	+	Silent	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:26962166C>A	ENST00000528896.2	-	16	2513	c.2439G>T	c.(2437-2439)cgG>cgT	p.R813R	KIAA0100_ENST00000389003.3_Silent_p.R670R|KIAA0100_ENST00000544884.1_Silent_p.R670R|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527000													15	144					1.52009e-12	6.84041e-12	0.003163	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	20					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	60					0	0	0.002450	0	0
PRKD1	5587	broad.mit.edu	37	14	30107997	30107997	+	Silent	SNP	C	C	T	rs144272752	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr14:30107997C>T	ENST00000331968.5	-	5	1039	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PRKD1_ENST00000415220.2_Silent_p.P278P|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAATGTGTGCGGCACTTTAA	0.468000													8	44					0	0	0.003080	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	84					0	0	0.001168	0	0
RIMS2	9699	broad.mit.edu	37	8	104709390	104709390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr8:104709390C>T	ENST00000406091.3	+	2	253	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	116	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCAAGAACAGAAGGGTGA	0.413000										HNSCC(12;0.0054)			11	78					0	0	0.001368	0	0
KAT5	10524	broad.mit.edu	37	11	65482118	65482118	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr11:65482118C>T	ENST00000341318.4	+	7	1077	c.843C>T	c.(841-843)tcC>tcT	p.S281S	KAT5_ENST00000352980.4_Silent_p.S196S|KAT5_ENST00000530446.1_Silent_p.S229S|KAT5_ENST00000534650.1_Silent_p.S37S|KAT5_ENST00000377046.3_Silent_p.S248S	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	248					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGTACTTCTCCCCGTACCCAC	0.562000													25	136					0	0	0.003954	0	0
FAT4	79633	broad.mit.edu	37	4	126241929	126241929	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr4:126241929C>G	ENST00000394329.3	+	1	4376	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1455	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATGGTCAACTATCCTACAC	0.393000													5	104					0	0	0.000602	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19282753	19282753	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:19282753T>G	ENST00000538714.1	+	1	24	c.20T>G	c.(19-21)cTg>cGg	p.L7R	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.L7R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.L7R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L7R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	7							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTGAACCTGGAGTGGATC	0.692000													3	21					0	0	0.004672	0	0
FAM13C	220965	broad.mit.edu	37	10	61014170	61014170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr10:61014170G>A	ENST00000373867.3	-	12	1486	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F	FAM13C_ENST00000422313.2_Missense_Mutation_p.L424F|FAM13C_ENST00000419214.2_Missense_Mutation_p.L326F|FAM13C_ENST00000442566.3_Missense_Mutation_p.L445F|FAM13C_ENST00000277705.6_Missense_Mutation_p.L445F|FAM13C_ENST00000435852.2_Missense_Mutation_p.L424F|FAM13C_ENST00000373868.2_Missense_Mutation_p.L424F|FAM13C_ENST00000468840.2_Missense_Mutation_p.L341F	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	424										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGTCATAAAGCGGCTTTATG	0.348000													7	115					0	0	0.004482	0	0
KLF1	10661	broad.mit.edu	37	19	12997871	12997871	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:12997871G>A	ENST00000264834.4	-	1	124	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	28	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCACCTTGAGGAAGTCAT	0.622000													7	59					0	0	0.001984	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143717	48143717	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:48143717G>A	ENST00000405493.2	-	8	896	c.687C>T	c.(685-687)acC>acT	p.T229T	RAPGEF3_ENST00000389212.3_Silent_p.T271T|RAPGEF3_ENST00000395358.3_Silent_p.T271T|RAPGEF3_ENST00000549151.1_Silent_p.T229T|RAPGEF3_ENST00000548919.1_Silent_p.T229T|RAPGEF3_ENST00000449771.2_Silent_p.T271T|RAPGEF3_ENST00000171000.4_Silent_p.T229T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	229					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACTTACACACGGTCCCTGCCT	0.567000													23	301					0	0	0.003330	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789871	26789871	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr10:26789871A>T	ENST00000376236.4	+	5	739	c.284A>T	c.(283-285)cAt>cTt	p.H95L	APBB1IP_ENST00000356785.4_Missense_Mutation_p.H95L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	95					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATCAACATCATTCAGCATCT	0.448000													9	109					0	0	0.008291	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541833	133541833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr2:133541833C>T	ENST00000409261.1	-	14	2924	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851K|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGAGCTCTCAGTCTTCATG	0.537000													8	142					0	0	0.003080	0	0
SOS1	6654	broad.mit.edu	37	2	39250272	39250272	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr2:39250272C>T	ENST00000426016.1	-	11	1383	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E433K|SOS1_ENST00000402219.2_Missense_Mutation_p.E433K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	433			E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E433K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTTTCCCTCCCAACCATCA	0.388000									Noonan syndrome				5	78					0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20296393	20296393	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr14:20296393C>T	ENST00000315947.1	+	1	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCGCCCCTTCAGGGCTTTCC	0.458000													15	93					0	0	0.004990	0	0
OFD1	8481	broad.mit.edu	37	X	13762639	13762639	+	Splice_Site	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chrX:13762639G>T	ENST00000380567.1	+	7	969		c.e7+1		OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000380550.3_Splice_Site			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GATTCTCTGGGTAATTATAGC	0.323000													3	11					6.4e-05	0.000278069	0.004672	1	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433000													4	62					0	0	0.000248	0	0
MKRN3	7681	broad.mit.edu	37	15	23811808	23811808	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr15:23811808C>G	ENST00000314520.3	+	1	1355	c.879C>G	c.(877-879)caC>caG	p.H293Q	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	293	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGAAGCACACGAGAAAGATA	0.532000													3	38					0	0	0.004672	0	0
TRIM13	10206	broad.mit.edu	37	13	50586806	50586806	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr13:50586806G>C	ENST00000378182.3	+	2	1468	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TRIM13_ENST00000298772.5_Missense_Mutation_p.E247Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E247Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	244					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATGTGTCAGAACCCATTGT	0.423000													4	53					0	0	0.000248	0	0
DDX52	11056	broad.mit.edu	37	17	36002253	36002253	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:36002253C>T	ENST00000394367.3	-	0	209				DDX52_ENST00000349699.2_Missense_Mutation_p.V58M			Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCTCCACACACACCTGGGACA	0.413000													12	76					0	0	0.000978	0	0
FLT3	2322	broad.mit.edu	37	13	28578200	28578200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr13:28578200C>T	ENST00000380982.4	-	24	3061	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	FLT3_ENST00000537084.1_Missense_Mutation_p.E950K|FLT3_ENST00000241453.7_Missense_Mutation_p.E991K|FLT3_ENST00000469894.1_5'UTR			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	991					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACGAATCTTCGACCTGAGCC	0.453000			"""Mis, O"""		"""AML, ALL"""								7	38					0	0	0.004482	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253511	48253511	+	Silent	SNP	C	C	G	rs148201586		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:48253511C>G	ENST00000246802.5	+	3	404	c.366C>G	c.(364-366)ctC>ctG	p.L122L	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	122						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACCTCATCCTCGAGAACACAT	0.522000													3	50					0	0	0.000248	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502717	64502717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:64502717G>C	ENST00000355086.3	+	16	2343	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D544H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D584H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	607	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTAGGAATAGATAATCTCTA	0.443000													12	89					0	0	0.001368	0	0
TSEN34	79042	broad.mit.edu	37	19	54695773	54695773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:54695773G>A	ENST00000396383.1	+	3	756	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TSEN34_ENST00000396388.2_Missense_Mutation_p.E149K|TSEN34_ENST00000302937.4_Missense_Mutation_p.E149K|TSEN34_ENST00000429671.2_Missense_Mutation_p.E149K			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGGATGAGACCAGTGA	0.597000													16	69					0	0	0.006122	0	0
UBR5	51366	broad.mit.edu	37	8	103358503	103358503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr8:103358503C>T	ENST00000520539.1	-	7	1303	c.697G>A	c.(697-699)Gat>Aat	p.D233N	UBR5_ENST00000521922.1_Missense_Mutation_p.D233N|UBR5_ENST00000220959.4_Missense_Mutation_p.D233N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	233					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)			TCATCCCCATCATCTCCATCT	0.433000													7	99					0	0	0.003080	0	0
TAGAP	117289	broad.mit.edu	37	6	159463226	159463226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr6:159463226G>T	ENST00000367066.3	-	5	530	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.L67I|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCAGGGGAGAGCCTTCTCATG	0.448000													9	217					0.000274275	0.00115196	0.004482	1	0
ENO1	2023	broad.mit.edu	37	1	8928111	8928111	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:8928111C>G	ENST00000234590.4	-	5	365	c.246G>C	c.(244-246)ctG>ctC	p.L82L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	82					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTGACGTTCAGTTTCTACG	0.473000													21	304					0	0	0.001882	0	0
PGBD1	84547	broad.mit.edu	37	6	28269233	28269233	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr6:28269233C>G	ENST00000405948.2	+	7	2022	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	PGBD1_ENST00000259883.3_Silent_p.L534L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	534					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAATTTCCTCTTGTATGCTC	0.353000													3	85					0	0	0.004672	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306123	27306123	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr2:27306123C>G	ENST00000380320.4	+	4	2183	c.1684C>G	c.(1684-1686)Ctc>Gtc	p.L562V		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	562					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGAATCTCACTGCGGC	0.642000													7	51					0	0	0.001984	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698963	29698963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:29698963C>G	ENST00000304863.4	-	2	739	c.317G>C	c.(316-318)aGc>aCc	p.S106T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AGCCTCGCTGCTTTCTCTTGA	0.478000													3	115					0	0	0.004672	0	0
LZTS3	9762	broad.mit.edu	37	20	3147473	3147473	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr20:3147473C>T	ENST00000329152.3	-	1	1734	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	LZTS3_ENST00000360342.3_Missense_Mutation_p.G113S|LZTS3_ENST00000337576.5_Missense_Mutation_p.G113S	NM_014731.2	NP_055546.1																					ACCACGTTGCCACAGACATCG	0.652000													5	49					0	0	0.000602	0	0
MED17	9440	broad.mit.edu	37	11	93528169	93528169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr11:93528169A>G	ENST00000251871.3	+	6	1242	c.955A>G	c.(955-957)Aaa>Gaa	p.K319E	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	319					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTCAAATTAAATCACAAGT	0.418000													4	114					0	0	0.000248	0	0
PLCE1	51196	broad.mit.edu	37	10	96028705	96028705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr10:96028705G>A	ENST00000260766.3	+	17	4935	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.R1434Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1126Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1126Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1434	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAAGGCTGTCGAAGTGTAGAA	0.488000													10	69					0	0	0.006214	0	0
MYOM2	9172	broad.mit.edu	37	8	2020522	2020522	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr8:2020522C>G	ENST00000262113.4	+	9	1032	c.891C>G	c.(889-891)ctC>ctG	p.L297L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	297	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTCACTCTCAAGTGCACCA	0.617000													3	31					0	0	0.000248	0	0
RBM15B	29890	broad.mit.edu	37	3	51430468	51430468	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr3:51430468G>A	ENST00000323686.4	+	1	1738	c.1638G>A	c.(1636-1638)ttG>ttA	p.L546L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	546					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACTTTTTTGGAAGGGGACT	0.627000													6	55					0	0	0.003080	0	0
TCTN2	79867	broad.mit.edu	37	12	124172678	124172678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:124172678G>C	ENST00000303372.5	+	7	973	c.845G>C	c.(844-846)gGa>gCa	p.G282A	TCTN2_ENST00000426174.2_Missense_Mutation_p.G281A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	282					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TACAAACAAGGAGATCCCATT	0.353000													14	102					0	0	0.002450	0	0
RGAG1	57529	broad.mit.edu	37	X	109694739	109694739	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chrX:109694739C>G	ENST00000465301.2	+	3	1140	c.894C>G	c.(892-894)ctC>ctG	p.L298L	RGAG1_ENST00000540313.1_Silent_p.L298L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTACCCCGCTCATGTCAGATC	0.488000													3	115					0	0	0.004672	0	0
HTRA1	5654	broad.mit.edu	37	10	124273755	124273755	+	Silent	SNP	C	C	A	rs111580234	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr10:124273755C>A	ENST00000368984.3	+	9	1451	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	441	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.S441S(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACAGTCCGTGGTCTCCG	0.473000													6	273					5.18039e-06	2.27696e-05	0.003080	1	0
KIF1B	23095	broad.mit.edu	37	1	10357284	10357284	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:10357284C>A	ENST00000377086.1	+	22	2297	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	KIF1B_ENST00000377081.1_Missense_Mutation_p.L699I|KIF1B_ENST00000263934.6_Missense_Mutation_p.L653I|KIF1B_ENST00000377083.1_Missense_Mutation_p.L653I|KIF1B_ENST00000377093.4_Missense_Mutation_p.L653I			O60333	KIF1B_HUMAN	kinesin family member 1B	699					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCAGATCTTCTTTTGGAGCA	0.393000													19	143					2.37509e-13	1.08167e-12	0.001523	1	0
ARID1B	57492	broad.mit.edu	37	6	157528758	157528758	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr6:157528758C>T	ENST00000346085.5	+	20	6484	c.6483C>T	c.(6481-6483)agC>agT	p.S2161S	ARID1B_ENST00000275248.4_Silent_p.S2143S|ARID1B_ENST00000350026.5_Silent_p.S2148S|ARID1B_ENST00000367148.1_Silent_p.S2201S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2148					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTTGATAAGCTTCCTAGAGG	0.552000													7	139					0	0	0.001984	0	0
MUC3A	4584	broad.mit.edu	37	7	100552150	100552150	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr7:100552150C>G	ENST00000319509.7	+	1	901	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGCTCCTCTCTGACCACAGC	0.468000													11	451					0	0	0.003163	0	0
GAS8	2622	broad.mit.edu	37	16	90097737	90097737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr16:90097737G>C	ENST00000268699.4	+	3	243	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	GAS8_ENST00000536122.1_Missense_Mutation_p.E16Q|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	41	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CATCCGGGAGGAGCTGGACCG	0.647000													3	51					0	0	0.004672	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	40					0	0	0.004672	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	87					0	0	0.000248	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058381	152058381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:152058381C>G	ENST00000368806.1	-	3	1841	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	593							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGGGTATCTGGGTTATTA	0.542000													11	181					0	0	0.008291	0	0
EP300	2033	broad.mit.edu	37	22	41513521	41513521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr22:41513521G>T	ENST00000263253.7	+	2	1644	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	142					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCACTAGTGGACCAAATCAG	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	40					5.9392e-07	2.6412e-06	0.001168	1	0
TCHP	84260	broad.mit.edu	37	12	110345367	110345367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:110345367G>A	ENST00000312777.5	+	6	776	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TCHP_ENST00000405876.4_Missense_Mutation_p.E188K	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	188	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CAAACGGTATGAAAATGAATA	0.507000													8	104					0	0	0.006214	0	0
TMC8	147138	broad.mit.edu	37	17	76128900	76128900	+	Silent	SNP	G	G	T	rs150261314		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:76128900G>T	ENST00000318430.5	+	5	854	c.480G>T	c.(478-480)ccG>ccT	p.P160P	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	160						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCAGTCCCCGCCTGGCGTTT	0.597000													6	102					0.000157383	0.000668437	0.003080	1	0
KIAA1009	22832	broad.mit.edu	37	6	84872909	84872909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr6:84872909C>T	ENST00000403245.3	-	19	2580	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.M746I	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	822					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTTTCTTCATTTTTTCGA	0.333000													13	119					0	0	0.002450	0	0
NELFB	25920	broad.mit.edu	37	9	140150358	140150358	+	Splice_Site	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr9:140150358G>C	ENST00000343053.4	+	2	439		c.e2-1			NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GGCTTCCTCAGACAGAGAATG	0.632000													11	113					0	0	0.001855	0	0
ATAD2	29028	broad.mit.edu	37	8	124359425	124359425	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr8:124359425G>T	ENST00000287394.5	-	16	2226	c.2119C>A	c.(2119-2121)Cca>Aca	p.P707T	ATAD2_ENST00000521903.1_Missense_Mutation_p.P25T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCAGGAGTGGTTTCACAACG	0.433000													4	116					0.000602214	0.00250151	0.000602	1	0
HLA-A	3105	broad.mit.edu	37	6	29912175	29912175	+	Splice_Site	SNP	G	G	T	rs41547331		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr6:29912175G>T	ENST00000396634.1	+	6	1236		c.e6+1		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGAGATGGGGTAAGGAGGGA	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	37					8.12818e-05	0.000349142	0.001984	1	0
FXR1	8087	broad.mit.edu	37	3	180685878	180685878	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr3:180685878C>G	ENST00000357559.4	+	14	1622	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	FXR1_ENST00000491062.1_Missense_Mutation_p.S364C|FXR1_ENST00000480918.1_Missense_Mutation_p.S400C|FXR1_ENST00000468861.1_Missense_Mutation_p.S328C|FXR1_ENST00000445140.2_Missense_Mutation_p.S413C|FXR1_ENST00000305586.7_Missense_Mutation_p.S328C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	413					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GAAACGGAATCTGAGCGTAAA	0.448000													14	83					0	0	0.003163	0	0
SRCAP	10847	broad.mit.edu	37	16	30721369	30721369	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr16:30721369C>G	ENST00000262518.4	+	8	1439	c.1054C>G	c.(1054-1056)Caa>Gaa	p.Q352E	SRCAP_ENST00000344771.4_Missense_Mutation_p.Q352E|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q352E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	352	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCTCTCAAACCCCCTC	0.577000													4	29					0	0	0.000602	0	0
TAF7L	54457	broad.mit.edu	37	X	100524182	100524182	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chrX:100524182C>T	ENST00000372907.3	-	13	1399	c.1388G>A	c.(1387-1389)tGa>tAa	p.*463*	TAF7L_ENST00000324762.6_Silent_p.*303*|TAF7L_ENST00000356784.1_Silent_p.*377*|TAF7L_ENST00000372905.2_Silent_p.*303*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	0					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTCTCCTCACTTCTTCAG	0.448000													16	76					0	0	0.006122	0	0
CNGA2	1260	broad.mit.edu	37	X	150911102	150911102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chrX:150911102C>T	ENST00000329903.4	+	5	610	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCATCCGATTGCGCAC	0.512000													20	57					0	0	0.001882	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					5	18					0	0	0.001984	0	0
FAT1	2195	broad.mit.edu	37	4	187539417	187539417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr4:187539417G>A	ENST00000441802.2	-	10	8532	c.8323C>T	c.(8323-8325)Cag>Tag	p.Q2775*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2775	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAAAACTGATACCACTTA	0.453000										HNSCC(5;0.00058)			21	237					0	0	0.001882	0	0
F13B	2165	broad.mit.edu	37	1	197021931	197021931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr1:197021931C>G	ENST00000367412.1	-	9	1431	c.1388G>C	c.(1387-1389)aGa>aCa	p.R463T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	463	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATGTTATTTCTGTTCATGTA	0.279000													8	71					0	0	0.004482	0	0
SLFN11	91607	broad.mit.edu	37	17	33680115	33680115	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:33680115T>A	ENST00000394566.1	-	7	2238	c.1966A>T	c.(1966-1968)Aga>Tga	p.R656*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.R656*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	656						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTTTTCTCTTAGGAAAGTT	0.398000													11	101					0	0	0.008291	0	0
CASP8	841	broad.mit.edu	37	2	202137479	202137481	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:202137479_202137481delACT	ENST00000358485.4	+	4	903_905	c.707_709delACT	c.(706-711)gat>g	p.DY236del	CASP8_ENST00000432109.2_In_Frame_Del_p.DY177del|CASP8_ENST00000392258.3_In_Frame_Del_p.DY177del|CASP8_ENST00000264274.9_In_Frame_Del_p.DY177del|CASP8_ENST00000264275.5_In_Frame_Del_p.DY209del|CASP8_ENST00000392259.2_In_Frame_Del_p.DY177del|CASP8_ENST00000392266.3_In_Frame_Del_p.DY177del|CASP8_ENST00000323492.7_In_Frame_Del_p.DY177del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	177					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATAATCAACGACTATGAAGAATT	0.429										HNSCC(4;0.00038)			28	119	---	---	---	---					
TCHP	84260	broad.mit.edu	37	12	110345379	110345380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345379_110345380insA	ENST00000312777.5	+	6	788_789	c.574_575insA	c.(574-576)aagfs	p.K192fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K192fs	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	192	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AAATGAATATGAAAGGGCCCGA	0.510													8	103	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202137479	202137481	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr2:202137479_202137481delACT	ENST00000358485.4	+	4	903_905	c.707_709delACT	c.(706-711)gat>g	p.DY236del	CASP8_ENST00000323492.7_In_Frame_Del_p.DY177del|CASP8_ENST00000264274.9_In_Frame_Del_p.DY177del|CASP8_ENST00000264275.5_In_Frame_Del_p.DY209del|CASP8_ENST00000432109.2_In_Frame_Del_p.DY177del|CASP8_ENST00000392258.3_In_Frame_Del_p.DY177del|CASP8_ENST00000392259.2_In_Frame_Del_p.DY177del|CASP8_ENST00000392266.3_In_Frame_Del_p.DY177del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	177					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATAATCAACGACTATGAAGAATT	0.429										HNSCC(4;0.00038)			28	119	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	4	---	---	---	---					
TCHP	84260	broad.mit.edu	37	12	110345379	110345380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr12:110345379_110345380insA	ENST00000312777.5	+	6	788_789	c.574_575insA	c.(574-576)aagfs	p.K192fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K192fs	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	192	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AAATGAATATGAAAGGGCCCGA	0.510													8	103	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16344166	16344167	+	RNA	INS	-	-	A	rs149284927		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr17:16344166_16344167insA	ENST00000475953.1	+	0	483				C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA	NR_027667.1																						gactccatctcaaaaaaaaaaa	0.416													3	4	---	---	---	---					
LSR	51599	broad.mit.edu	37	19	35757786	35757811	+	Frame_Shift_Del	DEL	ATGCGGGTCCTGTACTACATGGAGAA	ATGCGGGTCCTGTACTACATGGAGAA	-	rs35205867	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:35757786_35757811delATGCGGGTCCTGTACTACATGGAGAA	ENST00000602122.1	+	7	1631_1656	c.1144_1169delATGCGGGTCCTGTACTACATGGAGAA	c.(1144-1170)gfs	p.MRVLYYMEK382fs	LSR_ENST00000347609.4_Frame_Shift_Del_p.MRVLYYMEK344fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.MRVLYYMEK383fs|LSR_ENST00000361790.3_Frame_Shift_Del_p.MRVLYYMEK402fs|LSR_ENST00000427250.1_Frame_Shift_Del_p.MRVLYYMEK246fs|LSR_ENST00000360798.3_Frame_Shift_Del_p.MRVLYYMEK334fs			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	402					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACGACTCCATGCGGGTCCTGTACTACATGGAGAAGGAGCTGGCC	0.637													14	21	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085917	11085919	+	RNA	DEL	ACT	ACT	-	rs36163140	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr21:11085917_11085919delACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccatcaccactaccaccacca	0.557													2	4	---	---	---	---