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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
PCNXL2	80003	broad.mit.edu	37	1	233363071	233363071	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:233363071C>T	ENST00000258229.8	-	10	2639	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	802						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTAAATTTTCCTTGTGTTGA	0.398													3	47					0	0	1	0	0	T	233363071	C	T	233363071	3	4	1	1	0	0	0	0	1	0	0	0	11639	855	30	3	4108	3	PCNXL2	1	233363071	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		233363071	15887550	1	1											
FMN2	56776	broad.mit.edu	37	1	240370244	240370244	+	Missense_Mutation	SNP	T	T	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:240370244T>A	ENST00000319653.9	+	5	2362	c.2132T>A	c.(2131-2133)cTt>cAt	p.L711H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	711					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATCAAGGGCTTGAGAATGGA	0.488													7	44					0	0	1	0	0	A	240370244	T	A	240370244	3	1	1	1	0	0	0	0	1	0	0	0	5983	1609	56	5	2150	5	FMN2	1	240370244	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	7007173	240370244	8880377	2	2											
ZNF496	84838	broad.mit.edu	37	1	247492595	247492595	+	Silent	SNP	G	G	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:247492595G>T	ENST00000294753.4	-	3	750	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	ZNF496_ENST00000366498.2_Silent_p.R96R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	96	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGATCTCCCGGGGCAGGATG	0.697													5	44					0.00116845	0.00123336	1	1	0	T	247492595	G	T	247492595	2	4	1	1	0	0	0	0	0	0	0	1	18002	1115	39	5		5	ZNF496	1	247492595	Silent	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08	7122351	247492595	1758026	3	3											
TTN	7273	broad.mit.edu	37	2	179454380	179454380	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:179454380C>T	ENST00000589042.1	-	304	62296	c.62072G>A	c.(62071-62073)aGg>aAg	p.R20691K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19050K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19050							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTCAGGCCTCCGCCACTT	0.443													5	188					0	0	1	0	0	T	179454380	C	T	179454380	3	4	1	1	0	0	0	0	1	0	0	0	16797	681	24	3	46143	3	TTN	2	179454380	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		179454380	63744993	4	4											
DOCK3	1795	broad.mit.edu	37	3	51393611	51393611	+	Silent	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr3:51393611C>T	ENST00000266037.9	+	42	4364	c.4341C>T	c.(4339-4341)cgC>cgT	p.R1447R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTTCTATCGCGTCAACAATG	0.483													4	50					0	0	1	0	0	T	51393611	C	T	51393611	2	4	1	1	0	0	0	0	0	0	0	1	4715	755	27	1		1	DOCK3	3	51393611	Silent	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		51393611	146628819	5	5											
UGT2B17	7367	broad.mit.edu	37	4	69416530	69416530	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:69416530C>T	ENST00000317746.2	-	5	1220	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	393					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G393D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CAAGGGAATGCCCACCATAGG	0.458													4	252					0	0	1	0	0	T	69416530	C	T	69416530	3	4	1	1	0	0	0	0	1	0	0	0	17019	739	26	3	422	3	UGT2B17	4	69416530	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		69416530	121737746	6	6											
TRIML1	339976	broad.mit.edu	37	4	189063419	189063419	+	Missense_Mutation	SNP	C	C	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:189063419C>A	ENST00000332517.3	+	3	658	c.518C>A	c.(517-519)aCt>aAt	p.T173N	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	173					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACAAAGACTTGTAAACAG	0.423													8	12					1.12685e-05	1.22344e-05	1	1	0	A	189063419	C	A	189063419	3	1	1	1	0	0	0	0	1	0	0	0	16611	565	20	5	528	5	TRIML1	4	189063419	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08	119646889	189063419	2090857	7	7											
UHRF1BP1	54887	broad.mit.edu	37	6	34826576	34826576	+	Missense_Mutation	SNP	G	G	C			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:34826576G>C	ENST00000192788.5	+	14	2614	c.2443G>C	c.(2443-2445)Gat>Cat	p.D815H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	815										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGATGTAGCAGATGTTCATAT	0.507													7	161					0	0	1	0	0	C	34826576	G	C	34826576	3	2	1	1	0	0	0	0	1	0	0	0	17028	942	33	5	2497	5	UHRF1BP1	6	34826576	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		34826576	136288491	8	8											
TFAP2D	83741	broad.mit.edu	37	6	50696701	50696701	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:50696701T>G	ENST00000008391.3	+	4	959	c.731T>G	c.(730-732)cTc>cGc	p.L244R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	244							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCTGAGTGCCTCAATGCTTCA	0.468													20	61					0	0	1	0	0	G	50696701	T	G	50696701	3	3	1	1	0	0	0	0	1	0	0	0	15850	1551	54	5	745	5	TFAP2D	6	50696701	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	15870125	50696701	120418366	9	9											
GATAD1	57798	broad.mit.edu	37	7	92083921	92083921	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:92083921A>G	ENST00000287957.3	+	4	818	c.541A>G	c.(541-543)Aag>Gag	p.K181E		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	181							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTGCGAGAAGAGTGCAGC	0.443													28	55					0	0	1	0	0	G	92083921	A	G	92083921	3	3	1	1	0	0	0	0	1	0	0	0	6299	247	9	4	555	4	GATAD1	7	92083921	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08		92083921	67054742	10	10											
NUP205	23165	broad.mit.edu	37	7	135289192	135289192	+	Missense_Mutation	SNP	A	A	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:135289192A>T	ENST00000285968.6	+	19	2833	c.2807A>T	c.(2806-2808)gAt>gTt	p.D936V		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	936					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGGTTGGAGATTTCACACAT	0.353													4	67					0	0	1	0	0	T	135289192	A	T	135289192	3	4	1	1	0	0	0	0	1	0	0	0	10807	333	12	5	2881	5	NUP205	7	135289192	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08	43205271	135289192	23849471	11	11											
SSPO	23145	broad.mit.edu	37	7	149510857	149510857	+	RNA	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:149510857G>A	ENST00000378016.2	+	0	10142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGTGCTCGGCTGGCAAGG	0.672													4	40					0	0	1	0	0	A	149510857	G	A	149510857	1	1	1	0	1	0	0	0	0	0	0	0	15245	1116	39	2		2	SSPO	7	149510857	RNA	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08	14221665	149510857	9627806	12	12											
VPS13B	157680	broad.mit.edu	37	8	100874100	100874100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr8:100874100delG	ENST00000358544.2	+	58	11327	c.11216delG	c.(11215-11217)tgfs	p.W3739fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGAGGAGTGGCGGCGGCAG	0.672													2	4	---	---	---	---						-	100874100	G	-	100874100	7	5	1	1	0	1	0	1	0	0	0	0	17250	1357	47	0	11636	0	VPS13B	8	100874100	Frame_Shift_Del	DEL	G	TCGA-P7-A5NX-01A-11D-A35D-08		100874100	45489922	13	13											
AGTPBP1	23287	broad.mit.edu	37	9	88248216	88248216	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr9:88248216G>A	ENST00000357081.3	-	14	1520	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	459					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCTGCCGTAGGAACAACAAT	0.358													8	93					0	0	1	0	0	A	88248216	G	A	88248216	3	1	1	1	0	0	0	0	1	0	0	0	397	1000	35	3	2356	3	AGTPBP1	9	88248216	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		88248216	52965215	14	14											
ADAMTS20	80070	broad.mit.edu	37	12	43846144	43846144	+	Missense_Mutation	SNP	T	T	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:43846144T>A	ENST00000389420.3	-	14	2011	c.2012A>T	c.(2011-2013)gAt>gTt	p.D671V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	671	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCAACCATATCCTTCAATAG	0.338													21	29					0	0	1	0	0	A	43846144	T	A	43846144	3	1	1	1	0	0	0	0	1	0	0	0	265	1435	50	5	3823	5	ADAMTS20	12	43846144	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08		43846144	90005751	15	15											
ANAPC7	51434	broad.mit.edu	37	12	110834213	110834213	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:110834213T>G	ENST00000455511.3	-	2	248	c.248A>C	c.(247-249)cAt>cCt	p.H83P	ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGAATCTGCATGATACACCAA	0.393													10	39					0	0	1	0	0	G	110834213	T	G	110834213	3	3	1	1	0	0	0	0	1	0	0	0	602	1464	51	5	1595	5	ANAPC7	12	110834213	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	66988069	110834213	23017682	16	16											
IPO5	3843	broad.mit.edu	37	13	98658492	98658492	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr13:98658492C>T	ENST00000261574.5	+	17	1840	c.1660C>T	c.(1660-1662)Cca>Tca	p.P554S	IPO5_ENST00000539640.1_Missense_Mutation_p.P411S|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.P536S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	536					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTATTTATGCCATCACTGAA	0.408													4	117					0	0	1	0	0	T	98658492	C	T	98658492	3	4	1	1	0	0	0	0	1	0	0	0	7840	739	26	3	1718	3	IPO5	13	98658492	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		98658492	16511386	17	17											
PER1	5187	broad.mit.edu	37	17	8045151	8045151	+	Missense_Mutation	SNP	C	C	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:8045151C>G	ENST00000317276.4	-	22	3809	c.3572G>C	c.(3571-3573)gGc>gCc	p.G1191A	PER1_ENST00000581082.1_Missense_Mutation_p.G1168A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1191	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCAGTTGGCCCTTCCGGAC	0.577			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					5	111					0	0	1	0	0	G	8045151	C	G	8045151	3	3	1	1	0	0	0	0	1	0	0	0	11776	739	26	5	308	5	PER1	17	8045151	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		8045151	73150059	18	18											
SDF2	6388	broad.mit.edu	37	17	26976014	26976014	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:26976014T>G	ENST00000247020.4	-	3	927	c.629A>C	c.(628-630)gAg>gCg	p.E210A	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	210					protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GATTCACAGCTCTGCATGGTG	0.527													6	76					0	0	1	0	0	G	26976014	T	G	26976014	3	3	1	1	0	0	0	0	1	0	0	0	14014	1551	54	5	10	5	SDF2	17	26976014	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	18930863	26976014	54219196	19	19											
MYO5B	4645	broad.mit.edu	37	18	47488727	47488727	+	Missense_Mutation	SNP	C	C	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr18:47488727C>G	ENST00000285039.7	-	12	1753	c.1454G>C	c.(1453-1455)tGg>tCg	p.W485S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	485	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AATCAGGGTCCAAGGGATCTG	0.423													10	50					0	0	1	0	0	G	47488727	C	G	47488727	3	3	1	1	0	0	0	0	1	0	0	0	10127	595	21	5	4208	5	MYO5B	18	47488727	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		47488727	30588521	20	20											
MED26	9441	broad.mit.edu	37	19	16687787	16687787	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:16687787G>A	ENST00000263390.3	-	3	1116	c.854C>T	c.(853-855)gCc>gTc	p.A285V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	285	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGCTGCCGGGCAAAGGAGCC	0.672													3	35					0	0	1	0	0	A	16687787	G	A	16687787	3	1	1	1	0	0	0	0	1	0	0	0	9494	1203	42	3	952	3	MED26	19	16687787	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		16687787	42441196	21	21											
HRC	3270	broad.mit.edu	37	19	49656694	49656694	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:49656694A>G	ENST00000252825.4	-	1	1987	c.1801T>C	c.(1801-1803)Tcc>Ccc	p.S601P	HRC_ENST00000595625.1_Missense_Mutation_p.S601P	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	601					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCGCTGGAGGCACCTCCA	0.642													9	18					0	0	1	0	0	G	49656694	A	G	49656694	3	3	1	1	0	0	0	0	1	0	0	0	7393	304	11	4	322	4	HRC	19	49656694	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08	32968907	49656694	9472289	22	22											
MAGEE1	57692	broad.mit.edu	37	X	75651040	75651040	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:75651040G>A	ENST00000361470.2	+	1	2995	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	906	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTAGAGCCCGTTTGGAAACC	0.483													4	81					0	0	1	0	0	A	75651040	G	A	75651040	3	1	1	1	0	0	0	0	1	0	0	0	9235	1145	40	1	2719	1	MAGEE1	23	75651040	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		75651040	79619520	23	23											
STAG2	10735	broad.mit.edu	37	X	123215265	123215265	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:123215265delT	ENST00000371160.1	+	28	3101	c.2811delT	c.(2809-2811)aafs	p.N937fs	STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	937					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGGCTATAATTTTGATAGAT	0.308													31	62	---	---	---	---						-	123215265	T	-	123215265	7	5	1	1	0	1	0	1	0	0	0	0	15299	1490	52	0	2913	0	STAG2	23	123215265	Frame_Shift_Del	DEL	T	TCGA-P7-A5NX-01A-11D-A35D-08	47564225	123215265	32055295	24	24											
PHF6	84295	broad.mit.edu	37	X	133549219	133549219	+	Silent	SNP	C	C	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:133549219C>G	ENST00000370800.4	+	8	1047	c.906C>G	c.(904-906)ccC>ccG	p.P302P	PHF6_ENST00000370803.3_Intron|PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000394292.1_Intron|PHF6_ENST00000332070.3_Intron	NM_032335.3	NP_115711.2	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GAGTACATCCCAAATTTATCC	0.284			"F, N, Splice, Mis"		ETP ALL								6	157					0	0	1	0	0	G	133549219	C	G	133549219	2	3	1	1	0	0	0	0	0	0	0	1	11886	581	21	5		5	PHF6	23	133549219	Silent	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08	10333954	133549219	21721341	25	25											
GPR128	84873	broad.mit.edu	37	3	100328717	100328717	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:100328717C>T	ENST00000273352.3	+	1	285	c.17C>T	c.(16-18)gCc>gTc	p.A6V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	6					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCCTGCCGTGCCTGGAACCTT	0.483													4	45					0	0	1	0	0	T	100328717	C	T	100328717	3	4	2	1	0	0	0	0	1	0	0	0	6681	739	26	3	19	3	GPR128	3	100328717	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		100328717	97693713	1	26											
KBTBD12	166348	broad.mit.edu	37	3	127646684	127646684	+	Missense_Mutation	SNP	T	T	C			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:127646684T>C	ENST00000405109.1	+	3	1615	c.1148T>C	c.(1147-1149)aTt>aCt	p.I383T	KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	383										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGGGCAGTATTCATAATGAC	0.373													5	99					0	0	1	0	0	C	127646684	T	C	127646684	3	2	2	1	0	0	0	0	1	0	0	0	8035	1493	52	4	1154	4	KBTBD12	3	127646684	Missense_Mutation	SNP	T	TCGA-P7-A5NY-01A-12D-A35D-08	27317967	127646684	70375746	2	27											
ZKSCAN1	7586	broad.mit.edu	37	7	99621184	99621184	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr7:99621184G>A	ENST00000324306.6	+	2	289	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	19					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E19K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCTGCACAGGAGAAGGATGG	0.557													4	49					0	0	1	0	0	A	99621184	G	A	99621184	3	1	2	1	0	0	0	0	1	0	0	0	17744	1175	41	3	57	3	ZKSCAN1	7	99621184	Missense_Mutation	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		99621184	59517479	3	28											
VPS28	51160	broad.mit.edu	37	8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr8:145649475C>T	ENST00000377348.2	-	9	586	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692													3	45					0	0	1	0	0	T	145649475	C	T	145649475	3	4	2	1	0	0	0	0	1	0	0	0	17259	768	27	1	290	1	VPS28	8	145649475	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		145649475	714547	4	29											
IRAK4	51135	broad.mit.edu	37	12	44171441	44171441	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr12:44171441A>G	ENST00000431837.1	+	6	661	c.353A>G	c.(352-354)cAt>cGt	p.H118R	IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R|IRAK4_ENST00000448290.2_Missense_Mutation_p.H242R|IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	242					innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AGGTGTCAACATGAAAACTTA	0.303													16	27					0	0	1	0	0	G	44171441	A	G	44171441	3	3	2	1	0	0	0	0	1	0	0	0	7869	217	8	4	747	4	IRAK4	12	44171441	Missense_Mutation	SNP	A	TCGA-P7-A5NY-01A-12D-A35D-08		44171441	89680454	5	30											
LMO7	4008	broad.mit.edu	37	13	76375012	76375012	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr13:76375012C>T	ENST00000357063.3	+	8	2071	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C|LMO7_ENST00000341547.4_Missense_Mutation_p.R271C			Q8WWI1	LMO7_HUMAN	LIM domain 7	271						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGAGGGGGGCGTGAAGGTGT	0.448													4	144					0	0	1	0	0	T	76375012	C	T	76375012	3	4	2	1	0	0	0	0	1	0	0	0	8896	768	27	1	841	1	LMO7	13	76375012	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		76375012	38794866	6	31											
TUBB3	10381	broad.mit.edu	37	16	90002016	90002016	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr16:90002016C>T	ENST00000304984.5	+	3	3236	c.941C>T	c.(940-942)aCg>aTg	p.T314M	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.T386M|TUBB3_ENST00000556922.1_Missense_Mutation_p.T733M|TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	386					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGCAGTTCACGGCCATGTTC	0.622													4	148					0	0	1	0	0	T	90002016	C	T	90002016	3	4	2	1	0	0	0	0	1	0	0	0	16819	536	19	1	1171	1	TUBB3	16	90002016	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		90002016	352737	7	32											
DNAH9	1770	broad.mit.edu	37	17	11642318	11642318	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr17:11642318G>A	ENST00000262442.3	+	29	6004	c.5936G>A	c.(5935-5937)cGc>cAc	p.R1979H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1979	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGCTGGCCGCACAGAGCTG	0.478													3	46					0	0	1	0	0	A	11642318	G	A	11642318	3	1	2	1	0	0	0	0	1	0	0	0	4635	1087	38	1	6050	1	DNAH9	17	11642318	Missense_Mutation	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		11642318	69552892	8	33											
HCN2	610	broad.mit.edu	37	19	605212	605212	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:605212A>G	ENST00000251287.2	+	3	1261	c.1208A>G	c.(1207-1209)aAt>aGt	p.N403S		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	403					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCATCAATGGCATGGTG	0.647													8	35					0	0	1	0	0	G	605212	A	G	605212	3	3	2	1	0	0	0	0	1	0	0	0	7038	101	4	4	1218	4	HCN2	19	605212	Missense_Mutation	SNP	A	TCGA-P7-A5NY-01A-12D-A35D-08		605212	58523771	9	34											
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388													6	209					0	0	1	0	0	T	40581529	C	T	40581529	3	4	2	1	0	0	0	0	1	0	0	0	18201	478	17	3	1236	3	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08	39976317	40581529	18547454	10	35											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	97					0	0	1	0	0	A	150156360	G	A	150156360	2	1	2	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		150156360	5114200	11	36											
CSMD2	114784	broad.mit.edu	37	1	34090179	34090179	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:34090179C>T	ENST00000373381.4	-	35	5741	c.5565G>A	c.(5563-5565)ccG>ccA	p.P1855P	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1815	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTGAGGTACGGCTCTGGGA	0.662													3	45					0	0	1	0	0	T	34090179	C	T	34090179	2	4	3	1	0	0	0	0	0	0	0	1	3970	523	19	1		1	CSMD2	1	34090179	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		34090179	215160442	1	37											
ARNT	0	broad.mit.edu	37	1	150812108	150812108	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:150812108G>A	ENST00000358595.5	-	6	495	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	99	Poly-Arg.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCGCCGCCGTTCAATTTCA	0.493			T	ETV6	AML								3	10					0	0	1	0	0	A	150812108	G	A	150812108	3	1	3	1	0	0	0	0	1	0	0	0	964	1144	40	1	2142	1	ARNT	1	150812108	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08	116721929	150812108	98438513	2	38											
HLX	3142	broad.mit.edu	37	1	221053618	221053618	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:221053618C>T	ENST00000366903.6	+	1	1920	c.419C>T	c.(418-420)cCt>cTt	p.P140L		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	140	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cagcCTCCGCCTCCGCCCCGG	0.711													4	18					0	0	1	0	0	T	221053618	C	T	221053618	3	4	3	1	0	0	0	0	1	0	0	0	7257	681	24	3	421	3	HLX	1	221053618	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	70241510	221053618	28197003	3	39											
EDAR	10913	broad.mit.edu	37	2	109545753	109545753	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:109545753A>G	ENST00000409271.1	-	5	700	c.257T>C	c.(256-258)aTa>aCa	p.I86T	EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000258443.2_Missense_Mutation_p.I86T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	86					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACGCCTGCATATCTGGTAGCC	0.607													3	31					0	0	1	0	0	G	109545753	A	G	109545753	3	3	3	1	0	0	0	0	1	0	0	0	4931	449	16	4	1125	4	EDAR	2	109545753	Missense_Mutation	SNP	A	TCGA-P8-A5KC-01A-11D-A35D-08		109545753	133653620	4	40											
FN1	2335	broad.mit.edu	37	2	216273109	216273109	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:216273109C>T	ENST00000354785.4	-	16	2709	c.2340G>A	c.(2338-2340)ctG>ctA	p.L780L	FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L			P02751	FINC_HUMAN	fibronectin 1	780	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAGGAAGCAGGTCAGGGA	0.423													13	36					0	0	1	0	0	T	216273109	C	T	216273109	2	4	3	1	0	0	0	0	0	0	0	1	5995	697	25	3		3	FN1	2	216273109	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	106727356	216273109	26926264	5	41											
INPP5D	3635	broad.mit.edu	37	2	234102471	234102471	+	Silent	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:234102471T>C	ENST00000359570.5	+	25	2424	c.2424T>C	c.(2422-2424)atT>atC	p.I808I	INPP5D_ENST00000450745.1_Silent_p.I572I|INPP5D_ENST00000455936.2_Silent_p.I572I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	820					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGGCTGCATTGCCCTTCGGT	0.582													24	53					0	0	1	0	0	C	234102471	T	C	234102471	2	2	3	1	0	0	0	0	0	0	0	1	7800	1800	63	4		4	INPP5D	2	234102471	Silent	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	17829362	234102471	9096902	6	42											
PTPN3	0	broad.mit.edu	37	9	112185069	112185069	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185069C>T	ENST00000412145.1	-	8	3225	c.672G>A	c.(670-672)cgG>cgA	p.R224R	PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.R355R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAAGGATCTCCGCATGGCTG	0.453													4	107					0	0	1	0	0	T	112185069	C	T	112185069	2	4	3	1	0	0	0	0	0	0	0	1	12841	842	30	3		3	PTPN3	9	112185069	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		112185069	29028362	7	43	1	2									
PTPN3	0	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185070C>A	ENST00000412145.1	-	8	3224	c.671G>T	c.(670-672)cGg>cTg	p.R224L	PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453													4	104					0.00909568	0.00940932	1	1	0	A	112185070	C	A	112185070	3	1	3	1	0	0	0	0	1	0	0	0	12841	652	23	5	1733	5	PTPN3	9	112185070	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	1	112185070	29028361	8	44	1	2									
OR8J3	81168	broad.mit.edu	37	11	55905035	55905035	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:55905035G>C	ENST00000301529.1	-	1	159	c.160C>G	c.(160-162)Cga>Gga	p.R54G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTGAAGTCGAGAGTCAACA	0.473													5	71					0	0	1	0	0	C	55905035	G	C	55905035	3	2	3	1	0	0	0	0	1	0	0	0	11289	1066	37	5	789	5	OR8J3	11	55905035	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		55905035	79101481	9	45											
ADAMTS8	11095	broad.mit.edu	37	11	130278724	130278724	+	Missense_Mutation	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:130278724T>C	ENST00000257359.6	-	7	2568	c.1862A>G	c.(1861-1863)gAc>gGc	p.D621G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	621	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTGCAGCGGTCCCGGGGGGA	0.577													23	87					0	0	1	0	0	C	130278724	T	C	130278724	3	2	3	1	0	0	0	0	1	0	0	0	271	1667	58	4	819	4	ADAMTS8	11	130278724	Missense_Mutation	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	74373689	130278724	4727792	10	46											
JAM3	83700	broad.mit.edu	37	11	134014247	134014247	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:134014247G>A	ENST00000299106.4	+	4	527	c.368G>A	c.(367-369)cGc>cAc	p.R123H	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	123	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CGAAATGACCGCAAGGAAATT	0.488													3	53					0	0	1	0	0	A	134014247	G	A	134014247	3	1	3	1	0	0	0	0	1	0	0	0	7988	1087	38	1	517	1	JAM3	11	134014247	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08	3735523	134014247	992269	11	47											
STAB2	55576	broad.mit.edu	37	12	104140440	104140440	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:104140440G>C	ENST00000388887.2	+	58	6406	c.6202G>C	c.(6202-6204)Gag>Cag	p.E2068Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2068	EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAACACGTGTGAGTGTAACCT	0.502													33	150					0	0	1	0	0	C	104140440	G	C	104140440	3	2	3	1	0	0	0	0	1	0	0	0	15294	1291	45	5	6432	5	STAB2	12	104140440	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		104140440	29711455	12	48											
SVOP	55530	broad.mit.edu	37	12	109332604	109332604	+	Splice_Site	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:109332604T>C	ENST00000299134.5	-	7	699	c.701_splice	c.e7+1	p.R234_splice		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						GGCACTGACCTGTCTGGAGAT	0.542													5	194					0	0	1	0	0	C	109332604	T	C	109332604	5	2	3	1	0	0	0	0	0	0	1	0	15479	1594	55	4	782	4	SVOP	12	109332604	Splice_Site	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	5192164	109332604	24519291	13	49											
NAA30	122830	broad.mit.edu	37	14	57858352	57858352	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr14:57858352A>G	ENST00000556492.1	+	2	831	c.677A>G	c.(676-678)gAt>gGt	p.D226G	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	226	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CAAATGCCCGATATCATGAGA	0.488													5	169					0	0	1	0	0	G	57858352	A	G	57858352	3	3	3	1	0	0	0	0	1	0	0	0	10170	333	12	4	679	4	NAA30	14	57858352	Missense_Mutation	SNP	A	TCGA-P8-A5KC-01A-11D-A35D-08		57858352	49491188	14	50											
MYO5A	4644	broad.mit.edu	37	15	52646099	52646099	+	Missense_Mutation	SNP	T	T	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr15:52646099T>G	ENST00000399231.3	-	26	3779	c.3536A>C	c.(3535-3537)aAg>aCg	p.K1179T	MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1179					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCTCCTCCTTGCGGTCCAG	0.562													9	75					0	0	1	0	0	G	52646099	T	G	52646099	3	3	3	1	0	0	0	0	1	0	0	0	10126	1609	56	5	2095	5	MYO5A	15	52646099	Missense_Mutation	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08		52646099	49885293	15	51											
TNRC6A	27327	broad.mit.edu	37	16	24817584	24817584	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr16:24817584C>T	ENST00000395799.3	+	16	4438	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1437					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGGGAACCGGCCGCAGCA	0.498													6	34					0	0	1	0	0	T	24817584	C	T	24817584	3	4	3	1	0	0	0	0	1	0	0	0	16400	643	23	2	4371	2	TNRC6A	16	24817584	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		24817584	65537169	16	52											
STAT3	6774	broad.mit.edu	37	17	40478180	40478180	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr17:40478180G>A	ENST00000264657.5	-	15	1631	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	440					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGTCTCAAAGGTGATCAGGTG	0.532									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	30					0	0	1	0	0	A	40478180	G	A	40478180	3	1	3	1	0	0	0	0	1	0	0	0	15322	1261	44	3	1033	3	STAT3	17	40478180	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		40478180	40717030	17	53											
MAGED1	9500	broad.mit.edu	37	X	51637809	51637809	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chrX:51637809C>T	ENST00000375695.2	+	3	285	c.132C>T	c.(130-132)tgC>tgT	p.C44C	MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000326587.7_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.C44C(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCACTCTGTGCGACCCCCCTT	0.602										Multiple Myeloma(10;0.10)			5	10					0	0	1	0	0	T	51637809	C	T	51637809	2	4	3	1	0	0	0	0	0	0	0	1	9233	776	27	1		1	MAGED1	23	51637809	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		51637809	103632751	18	54											
NBPF14	25832	broad.mit.edu	37	1	148004602	148004602	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr1:148004602C>A	ENST00000369219.1	-	22	2728	c.2712G>T	c.(2710-2712)ttG>ttT	p.L904F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	904	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTGTCACCGTCAAAGTAAAAA	0.468													19	212					1.75199e-13	2.29106e-13	1	1	0	A	148004602	C	A	148004602	3	1	4	1	0	0	0	0	1	0	0	0	10242	825	29	5	57	5	NBPF14	1	148004602	Missense_Mutation	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		148004602	101246019	1	55											
PRG4	10216	broad.mit.edu	37	1	186274011	186274012	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr1:186274011_186274012insAA	ENST00000445192.2	+	6	600_601	c.555_556insAA	c.(553-558)tcaaaafs	p.SK185fs	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.SK144fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.SK144fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	185	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCAAGTCTTCCAAAAATTCAGC	0.337													38	65	---	---	---	---						AA	186274012	-	AA	186274011	7	5	4	1	0	1	1	0	0	0	0	0	12533	581	21	0	573	0	PRG4	1	186274011	Frame_Shift_Ins	INS	-	TCGA-P8-A5KD-01A-11D-A35D-08	38269409	186274011	62976610	2	56											
SSFA2	6744	broad.mit.edu	37	2	182784164	182784164	+	Silent	SNP	C	C	T			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr2:182784164C>T	ENST00000431877.2	+	14	3314	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000409136.1_Silent_p.S554S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1045						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCGCTCCTCCGCACTCATGG	0.527													4	116					0	0	1	0	0	T	182784164	C	T	182784164	2	4	4	1	0	0	0	0	0	0	0	1	15239	639	23	2		2	SSFA2	2	182784164	Silent	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		182784164	60415209	3	57											
SLC11A1	6556	broad.mit.edu	37	2	219247721	219247721	+	Missense_Mutation	SNP	G	G	T			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr2:219247721G>T	ENST00000233202.6	+	2	386	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	16	Pro/Ser-rich.				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAGCTATGGTTCCATCTc	0.597													3	29					6.4e-05	7.25333e-05	1	1	0	T	219247721	G	T	219247721	3	4	4	1	0	0	0	0	1	0	0	0	14435	1348	47	5	52	5	SLC11A1	2	219247721	Missense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08	36463557	219247721	23951652	4	58											
NISCH	11188	broad.mit.edu	37	3	52521842	52521842	+	Silent	SNP	G	G	T	rs150301138		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr3:52521842G>T	ENST00000345716.4	+	16	2468	c.2334G>T	c.(2332-2334)ctG>ctT	p.L778L	NISCH_ENST00000479054.1_Silent_p.L778L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	778	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGCCGGAGCTGTGTCTGGTGC	0.597													11	23					0.0809354	0.0859938	1	1	0	T	52521842	G	T	52521842	2	4	4	1	0	0	0	0	0	0	0	1	10479	1364	48	5		5	NISCH	3	52521842	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		52521842	145500588	5	59											
ACOT12	134526	broad.mit.edu	37	5	80643655	80643655	+	Silent	SNP	G	G	A	rs149420016		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr5:80643655G>A	ENST00000307624.3	-	6	619	c.591C>T	c.(589-591)caC>caT	p.H197H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	197	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATGTATTTCCGTGATGGTTTG	0.488													82	146					0	0	1	0	0	A	80643655	G	A	80643655	2	1	4	1	0	0	0	0	0	0	0	1	150	1136	40	1		1	ACOT12	5	80643655	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		80643655	100271605	6	60											
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	d985c4ed-4c78-44f0-9254-35266677f568	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													2	4	---	---	---	---						-	90556398	T	-	90556398	6	5	4	0	1	1	0	1	0	0	0	0	2696	1624	56	0		0	CASP8AP2	6	90556398	RNA	DEL	T	TCGA-P8-A5KD-01A-11D-A35D-08		90556398	80558669	7	61											
TBC1D2	55357	broad.mit.edu	37	9	100961724	100961724	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr9:100961724G>C	ENST00000375066.5	-	13	2784	c.2693C>G	c.(2692-2694)tCc>tGc	p.S898C	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	909						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCTGCGCCGGGATGCCCGCCT	0.677													6	97					0	0	1	0	0	C	100961724	G	C	100961724	3	2	4	1	0	0	0	0	1	0	0	0	15665	1174	41	5	64	5	TBC1D2	9	100961724	Missense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		100961724	40251707	8	62											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			47	49					0	0	1	0	0	C	533874	T	C	533874	3	2	4	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-P8-A5KD-01A-11D-A35D-08		533874	134472642	9	63											
JPH4	84502	broad.mit.edu	37	14	24046493	24046493	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr14:24046493delC	ENST00000397118.3	-	3	1072	c.170delG	c.(169-171)gcfs	p.G58fs	JPH4_ENST00000356300.4_Frame_Shift_Del_p.G58fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	58					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTGTGTCCGCCGGGCCCCGT	0.731													2	4	---	---	---	---						-	24046493	C	-	24046493	7	5	4	1	0	1	0	1	0	0	0	0	8007	739	26	0	1736	0	JPH4	14	24046493	Frame_Shift_Del	DEL	C	TCGA-P8-A5KD-01A-11D-A35D-08		24046493	83303047	10	64											
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													7	219					0	0	1	0	0	T	3293588	C	T	3293588	2	4	4	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		3293588	87061165	11	65											
NKD1	85407	broad.mit.edu	37	16	50664747	50664747	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr16:50664747delC	ENST00000268459.3	+	8	845	c.621delC	c.(619-621)agfs	p.S207fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	207					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACCTGCAGAGCGCAAGGCCCC	0.652													2	4	---	---	---	---						-	50664747	C	-	50664747	7	5	4	1	0	1	0	1	0	0	0	0	10488	767	27	0	651	0	NKD1	16	50664747	Frame_Shift_Del	DEL	C	TCGA-P8-A5KD-01A-11D-A35D-08	47371159	50664747	39690006	12	66											
DNAH17	8632	broad.mit.edu	37	17	76457712	76457712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr17:76457712G>A	ENST00000389840.5	-	58	9335	c.9211C>T	c.(9211-9213)Cag>Tag	p.Q3071*	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q3080*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGACCACCTGGATCAGTTGG	0.527													5	12					0	0	1	0	0	A	76457712	G	A	76457712	4	1	4	1	0	0	0	0	0	1	0	0	4629	1357	47	3	4231	3	DNAH17	17	76457712	Nonsense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		76457712	4737498	13	67											
WDR18	57418	broad.mit.edu	37	19	990349	990349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr19:990349delG	ENST00000251289.5	+	4	605	c.582delG	c.(580-582)ctfs	p.L194fs	WDR18_ENST00000587001.2_Frame_Shift_Del_p.L194fs	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	194										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTCACTGGACCAGACGG	0.701													3	5	---	---	---	---						-	990349	G	-	990349	7	5	4	1	0	1	0	1	0	0	0	0	17338	1335	47	0	596	0	WDR18	19	990349	Frame_Shift_Del	DEL	G	TCGA-P8-A5KD-01A-11D-A35D-08		990349	58138634	14	68											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	77					0	0	1	0	0	A	150156360	G	A	150156360	2	1	4	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		150156360	5114200	15	69											
MYOM3	127294	broad.mit.edu	37	1	24392434	24392434	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:24392434G>A	ENST00000330966.7	-	29	3652	c.3490C>T	c.(3490-3492)Cca>Tca	p.P1164S	MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1161S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S			Q5VTT5	MYOM3_HUMAN	myomesin 3	1161	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGACCATCTGGCATCTCTGCC	0.542													37	98					0	0	1	0	0	A	24392434	G	A	24392434	3	1	5	1	0	0	0	0	1	0	0	0	10141	1203	42	3	868	3	MYOM3	1	24392434	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		24392434	224858187	1	70											
CD5L	922	broad.mit.edu	37	1	157805895	157805895	+	Missense_Mutation	SNP	G	G	A	rs145458344		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:157805895G>A	ENST00000368174.4	-	3	202	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	36	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.R36W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTCCACCCGCCCTTCACAG	0.632													25	47					0	0	1	0	0	A	157805895	G	A	157805895	3	1	5	1	0	0	0	0	1	0	0	0	3049	1086	38	1	953	1	CD5L	1	157805895	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	133413461	157805895	91444726	2	71											
RAB3GAP2	25782	broad.mit.edu	37	1	220346011	220346011	+	Missense_Mutation	SNP	T	T	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:220346011T>A	ENST00000358951.2	-	22	2500	c.2384A>T	c.(2383-2385)cAt>cTt	p.H795L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	795					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGCATGGTATGAAGACAGCA	0.383													5	30					0	0	1	0	0	A	220346011	T	A	220346011	3	1	5	1	0	0	0	0	1	0	0	0	12988	1464	51	5	1853	5	RAB3GAP2	1	220346011	Missense_Mutation	SNP	T	TCGA-P8-A6RX-01A-11D-A35D-08	62540116	220346011	28904610	3	72											
ABCA12	26154	broad.mit.edu	37	2	215847076	215847076	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr2:215847076G>A	ENST00000272895.7	-	30	4633	c.4414C>T	c.(4414-4416)Cgt>Tgt	p.R1472C	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1472	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTATGACGATGGCTATAT	0.343													23	41					0	0	1	0	0	A	215847076	G	A	215847076	3	1	5	1	0	0	0	0	1	0	0	0	30	1058	37	2	3469	2	ABCA12	2	215847076	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		215847076	27352297	4	73											
ENC1	8507	broad.mit.edu	37	5	73931637	73931637	+	Missense_Mutation	SNP	C	C	T	rs61758147		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr5:73931637C>T	ENST00000302351.4	-	2	1804	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ENC1_ENST00000537006.1_Missense_Mutation_p.R225H|ENC1_ENST00000510316.1_Missense_Mutation_p.R152H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	225					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.R225H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTAGCAATAGCGCTTCTTCAG	0.493													13	40					0	0	1	0	0	T	73931637	C	T	73931637	3	4	5	1	0	0	0	0	1	0	0	0	5141	768	27	1	1099	1	ENC1	5	73931637	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		73931637	106983623	5	74											
CUL1	8454	broad.mit.edu	37	7	148427298	148427298	+	Missense_Mutation	SNP	C	C	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr7:148427298C>G	ENST00000325222.4	+	2	363	c.84C>G	c.(82-84)atC>atG	p.I28M	CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547													6	90					0	0	1	0	0	G	148427298	C	G	148427298	3	3	5	1	0	0	0	0	1	0	0	0	4077	845	30	5	86	5	CUL1	7	148427298	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		148427298	10711365	6	75											
BMP1	649	broad.mit.edu	37	8	22067192	22067192	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:22067192G>A	ENST00000306385.5	+	19	3480	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	937	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGCTGGGGCGCTACTGTGGC	0.657													40	53					0	0	1	0	0	A	22067192	G	A	22067192	3	1	5	1	0	0	0	0	1	0	0	0	1455	1087	38	1	2974	1	BMP1	8	22067192	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		22067192	124296830	7	76											
SDC2	6383	broad.mit.edu	37	8	97621721	97621721	+	Missense_Mutation	SNP	G	G	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:97621721G>T	ENST00000302190.4	+	5	1472	c.551G>T	c.(550-552)cGc>cTc	p.R184L	SDC2_ENST00000519914.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000522911.1_Missense_Mutation_p.R155L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	184						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTTGGAGAACGCAAACCATCC	0.413													31	41					2.08457e-15	2.21485e-15	1	1	0	T	97621721	G	T	97621721	3	4	5	1	0	0	0	0	1	0	0	0	14006	1087	38	5	569	5	SDC2	8	97621721	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	75554529	97621721	48742301	8	77											
CYP11B2	1585	broad.mit.edu	37	8	143994109	143994109	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:143994109C>T	ENST00000323110.2	-	8	1237	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGGCATTGCGACCCAGCGA	0.602									Familial Hyperaldosteronism type I				3	51					0	0	1	0	0	T	143994109	C	T	143994109	3	4	5	1	0	0	0	0	1	0	0	0	4169	768	27	1	284	1	CYP11B2	8	143994109	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	46372388	143994109	2369913	9	78											
APBA1	320	broad.mit.edu	37	9	72056012	72056012	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:72056012C>T	ENST00000265381.4	-	11	2423	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	734	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTTGACTCGGGACTGATT	0.473													23	43					0	0	1	0	0	T	72056012	C	T	72056012	3	4	5	1	0	0	0	0	1	0	0	0	752	884	31	2	324	2	APBA1	9	72056012	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		72056012	69157419	10	79											
PSAT1	29968	broad.mit.edu	37	9	80923397	80923397	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:80923397G>A	ENST00000376588.3	+	6	706	c.638G>A	c.(637-639)cGt>cAt	p.R213H	PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	213					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTGATTGTCCGTGATGACCTG	0.522													21	40					0	0	1	0	0	A	80923397	G	A	80923397	3	1	5	1	0	0	0	0	1	0	0	0	12693	1145	40	1	660	1	PSAT1	9	80923397	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	8867385	80923397	60290034	11	80											
PRB2	653247	broad.mit.edu	37	12	11546415	11546415	+	Silent	SNP	T	T	C			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:11546415T>C	ENST00000389362.4	-	3	632	c.597A>G	c.(595-597)ggA>ggG	p.G199G	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGCTTTCCTGGAGGAG	0.597													54	120					0	0	1	0	0	C	11546415	T	C	11546415	2	2	5	1	0	0	0	0	0	0	0	1	12495	1770	62	4		4	PRB2	12	11546415	Silent	SNP	T	TCGA-P8-A6RX-01A-11D-A35D-08		11546415	122305480	12	81											
CNTN1	1272	broad.mit.edu	37	12	41333285	41333285	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:41333285C>A	ENST00000551295.2	+	12	1494	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	459	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAATAGCAGCAGGTCAGTGC	0.353													11	12					2.80697e-09	2.89203e-09	1	1	0	A	41333285	C	A	41333285	3	1	5	1	0	0	0	0	1	0	0	0	3663	709	25	5	1419	5	CNTN1	12	41333285	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	29786870	41333285	92518610	13	82											
USP15	9958	broad.mit.edu	37	12	62785104	62785104	+	Nonsense_Mutation	SNP	C	C	T	rs149953550		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:62785104C>T	ENST00000280377.5	+	16	2186	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*|USP15_ENST00000353364.3_Nonsense_Mutation_p.R681*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	710					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACACAAAAAACGATTGTTTAC	0.373													20	32					0	0	1	0	0	T	62785104	C	T	62785104	4	4	5	1	0	0	0	0	0	1	0	0	17106	528	19	1	2099	1	USP15	12	62785104	Nonsense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	21451819	62785104	71066791	14	83											
KDM6B	23135	broad.mit.edu	37	17	7752181	7752181	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:7752181G>A	ENST00000254846.5	+	11	2964	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	KDM6B_ENST00000448097.2_Missense_Mutation_p.G859S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	859	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TAGCGCCCAGGGCTCCCCACA	0.721													20	38					0	0	1	0	0	A	7752181	G	A	7752181	3	1	5	1	0	0	0	0	1	0	0	0	8181	1232	43	3	2605	3	KDM6B	17	7752181	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		7752181	73443029	15	84											
CRHR1	1394	broad.mit.edu	37	17	43912060	43912060	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:43912060G>A	ENST00000314537.5	+	13	1403	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R422H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	422					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CGAGTGGCCCGTGCCATGTCC	0.627													16	36					0	0	1	0	0	A	43912060	G	A	43912060	3	1	5	1	0	0	0	0	1	0	0	0	3894	1145	40	1	1319	1	CRHR1	17	43912060	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	36159879	43912060	37283150	16	85											
TEX14	56155	broad.mit.edu	37	17	56699053	56699053	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:56699053C>T	ENST00000389934.3	-	5	629	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	TEX14_ENST00000240361.8_Missense_Mutation_p.R171Q|TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	171						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAGACAAGCCGCTGCGGGGA	0.587													12	28					0	0	1	0	0	T	56699053	C	T	56699053	3	4	5	1	0	0	0	0	1	0	0	0	15837	652	23	2	4079	2	TEX14	17	56699053	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	12786993	56699053	24496157	17	86											
TSHZ1	10194	broad.mit.edu	37	18	72998961	72998961	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr18:72998961C>G	ENST00000322038.5	+	2	2048	c.1464C>G	c.(1462-1464)taC>taG	p.Y488*	TSHZ1_ENST00000580243.1_Nonsense_Mutation_p.Y533*	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	533						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCACCCTGTACCCGTACCTGC	0.587													29	54					0	0	1	0	0	G	72998961	C	G	72998961	4	3	5	1	0	0	0	0	0	1	0	0	16684	518	18	5	1466	5	TSHZ1	18	72998961	Nonsense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		72998961	5078287	18	87											
PSG2	5670	broad.mit.edu	37	19	43575927	43575927	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr19:43575927C>T	ENST00000406487.1	-	4	987	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	297	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACATAGAGCCCGCTATGCTTT	0.468													4	203					0	0	1	0	0	T	43575927	C	T	43575927	3	4	5	1	0	0	0	0	1	0	0	0	12704	652	23	2	126	2	PSG2	19	43575927	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		43575927	15553056	19	88											
TPX2	22974	broad.mit.edu	37	20	30366768	30366768	+	Missense_Mutation	SNP	G	G	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr20:30366768G>T	ENST00000340513.4	+	10	1563	c.1035G>T	c.(1033-1035)agG>agT	p.R345S	TPX2_ENST00000300403.6_Missense_Mutation_p.R345S			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	345					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCATTTGAGGAGCAAGAAGG	0.398													9	56					0.335167	0.335167	1	1	0	T	30366768	G	T	30366768	3	4	5	1	0	0	0	0	1	0	0	0	16493	1165	41	5	1065	5	TPX2	20	30366768	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		30366768	32658752	20	89											
OGT	8473	broad.mit.edu	37	X	70767856	70767856	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:70767856A>G	ENST00000373719.3	+	5	848	c.631A>G	c.(631-633)Att>Gtt	p.I211V	OGT_ENST00000373701.3_Missense_Mutation_p.I201V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	211					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTGGCTTGCAATTCATCACTT	0.353													47	17					0	0	1	0	0	G	70767856	A	G	70767856	3	3	5	1	0	0	0	0	1	0	0	0	10895	101	4	4	649	4	OGT	23	70767856	Missense_Mutation	SNP	A	TCGA-P8-A6RX-01A-11D-A35D-08		70767856	84502704	21	90											
AMMECR1	9949	broad.mit.edu	37	X	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)del	p.S31del	AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del|AMMECR1_ENST00000372057.1_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68													3	3	---	---	---	---						-	109561209	GGA	-	109561207	7	5	5	1	0	1	0	1	0	0	0	0	574	1219	43	0	932	0	AMMECR1	23	109561207	In_Frame_Del	DEL	GGA	TCGA-P8-A6RX-01A-11D-A35D-08	38793351	109561207	45709353	22	91											
OR6K3	391114	broad.mit.edu	37	1	158687537	158687537	+	Silent	SNP	G	G	A			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr1:158687537G>A	ENST00000368146.1	-	1	416	c.417C>T	c.(415-417)taC>taT	p.Y139Y	OR6K3_ENST00000368145.1_Silent_p.Y123Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGATGGCAACGTATCTGTCAA	0.507													4	81					0	0	1	0	0	A	158687537	G	A	158687537	2	1	6	1	0	0	0	0	0	0	0	1	11250	1140	40	1		1	OR6K3	1	158687537	Silent	SNP	G	TCGA-P8-A6RY-01A-12D-A35D-08		158687537	90563084	1	92											
ARHGAP22	58504	broad.mit.edu	37	10	49667823	49667823	+	Missense_Mutation	SNP	A	A	T			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr10:49667823A>T	ENST00000249601.4	-	5	859	c.563T>A	c.(562-564)cTc>cAc	p.L188H	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.L98H|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.L98H|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.L194H|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.L79H|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L204H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	188	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCTCAGTGAGCCCGCGCTC	0.642													52	69					0	0	1	0	0	T	49667823	A	T	49667823	3	4	6	1	0	0	0	0	1	0	0	0	869	304	11	5	1557	5	ARHGAP22	10	49667823	Missense_Mutation	SNP	A	TCGA-P8-A6RY-01A-12D-A35D-08		49667823	85866924	2	93											
SEMA4G	57715	broad.mit.edu	37	10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr10:102743064_102743066delCCA	ENST00000210633.3	+	14	1786_1788	c.1708_1710delCCA	c.(1708-1710)del	p.P573del	MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616													2	4	---	---	---	---						-	102743066	CCA	-	102743064	7	5	6	1	0	1	0	1	0	0	0	0	14090	739	26	0	1762	0	SEMA4G	10	102743064	In_Frame_Del	DEL	CCA	TCGA-P8-A6RY-01A-12D-A35D-08	53075241	102743064	32791683	3	94											
HMGA2	8091	broad.mit.edu	37	12	66221789	66221789	+	Silent	SNP	C	C	T			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr12:66221789C>T	ENST00000541363.1	+	2	493	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								18	24					0	0	1	0	0	T	66221789	C	T	66221789	2	4	6	1	0	0	0	0	0	0	0	1	7265	639	23	2		2	HMGA2	12	66221789	Silent	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08		66221789	67630106	4	95											
ELANE	1991	broad.mit.edu	37	19	853364	853364	+	Silent	SNP	C	C	T			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:853364C>T	ENST00000590230.1	+	4	468	c.327C>T	c.(325-327)taC>taT	p.Y109Y	ELANE_ENST00000263621.1_Silent_p.Y109Y			P08246	ELNE_HUMAN	elastase, neutrophil expressed	109	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAAACGGCTACGACCCCGTAA	0.706													8	14					0	0	1	0	0	T	853364	C	T	853364	2	4	6	1	0	0	0	0	0	0	0	1	5076	547	19	1		1	ELANE	19	853364	Silent	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08		853364	58275619	5	96											
LONP1	9361	broad.mit.edu	37	19	5692054	5692054	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:5692054C>A	ENST00000360614.3	-	18	3026	c.2869G>T	c.(2869-2871)Gtg>Ttg	p.V957L	LONP1_ENST00000540670.2_Missense_Mutation_p.V761L|LONP1_ENST00000593119.1_Missense_Mutation_p.V893L|LONP1_ENST00000590729.1_Missense_Mutation_p.V827L|LONP1_ENST00000585374.1_Missense_Mutation_p.V843L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	957					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCGTTCCACGGCCAGCGCC	0.687													29	34					2.49675e-24	2.74642e-24	1	1	0	A	5692054	C	A	5692054	3	1	6	1	0	0	0	0	1	0	0	0	8937	536	19	5	14	5	LONP1	19	5692054	Missense_Mutation	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08	4838690	5692054	53436929	6	97											
OPA3	80207	broad.mit.edu	37	19	46032458	46032458	+	Silent	SNP	G	G	A			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:46032458G>A	ENST00000323060.3	-	2	476	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	133					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAACTCCTCGAGCGCCAGCC	0.697													13	13					0	0	1	0	0	A	46032458	G	A	46032458	2	1	6	1	0	0	0	0	0	0	0	1	10920	1045	37	2		2	OPA3	19	46032458	Silent	SNP	G	TCGA-P8-A6RY-01A-12D-A35D-08	40340404	46032458	13096525	7	98											
PLXNB3	5365	broad.mit.edu	37	X	153044463	153044463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chrX:153044463delC	ENST00000538966.1	+	37	6039	c.5768delC	c.(5767-5769)gcfs	p.A1923fs	PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.A1900fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.A1553fs|SRPK3_ENST00000489426.1_5'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1900					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTCGCCGCCCTGGTGGAA	0.647													2	4	---	---	---	---						-	153044463	C	-	153044463	7	5	6	1	0	1	0	1	0	0	0	0	12173	739	26	0	5955	0	PLXNB3	23	153044463	Frame_Shift_Del	DEL	C	TCGA-P8-A6RY-01A-12D-A35D-08		153044463	2226097	8	99											
AGRN	375790	broad.mit.edu	37	1	980571	980571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:980571delC	ENST00000379370.2	+	13	2335	c.2285delC	c.(2284-2286)gcfs	p.A762fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	762					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCCTGTGGCCCCCTTACAC	0.672													2	4	---	---	---	---						-	980571	C	-	980571	7	5	7	1	0	1	0	1	0	0	0	0	394	739	26	0	2335	0	AGRN	1	980571	Frame_Shift_Del	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		980571	248270050	1	100											
INSRR	3645	broad.mit.edu	37	1	156816315	156816315	+	Silent	SNP	A	A	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:156816315A>T	ENST00000368195.3	-	8	2202	c.1806T>A	c.(1804-1806)ccT>ccA	p.P602P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	602					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTACCTGCAGGCAGCGTTC	0.582													6	4					0	0	1	0	0	T	156816315	A	T	156816315	2	4	7	1	0	0	0	0	0	0	0	1	7818	175	7	5		5	INSRR	1	156816315	Silent	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	155835744	156816315	92434306	2	101											
FAM49A	81553	broad.mit.edu	37	2	16734239	16734239	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:16734239A>G	ENST00000381323.3	-	12	1157	c.937T>C	c.(937-939)Tca>Cca	p.S313P	FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	313						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGGAAGTTGATTCATCGTTC	0.418													31	34					0	0	1	0	0	G	16734239	A	G	16734239	3	3	7	1	0	0	0	0	1	0	0	0	5611	333	12	4	38	4	FAM49A	2	16734239	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		16734239	226465134	3	102											
STON1	11037	broad.mit.edu	37	2	48809015	48809015	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:48809015A>G	ENST00000309835.3	+	1	1253	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	STON1_ENST00000406226.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V|STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGCAAGAAATTTCCTTGGA	0.393													30	43					0	0	1	0	0	G	48809015	A	G	48809015	3	3	7	1	0	0	0	0	1	0	0	0	15372	101	4	4	1245	4	STON1	2	48809015	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	32074776	48809015	194390358	4	103											
SCN5A	6331	broad.mit.edu	37	3	38655531	38655531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:38655531delC	ENST00000413689.1	-	6	831	c.638delG	c.(637-639)gcfs	p.G213fs	SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	213					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGACAAATTGCCTAGTTTTAT	0.463													2	4	---	---	---	---						-	38655531	C	-	38655531	7	5	7	1	0	1	0	1	0	0	0	0	13976	739	26	0	5600	0	SCN5A	3	38655531	Frame_Shift_Del	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		38655531	159366899	5	104											
ZBTB47	92999	broad.mit.edu	37	3	42703080	42703080	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:42703080A>G	ENST00000457842.3	+	3	1858	c.449A>G	c.(448-450)gAg>gGg	p.E150G	ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G|ZBTB47_ENST00000232974.6_Missense_Mutation_p.E526G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GAGATCTGTGAGAAGAAGTTC	0.517													3	31					0	0	1	0	0	G	42703080	A	G	42703080	3	3	7	1	0	0	0	0	1	0	0	0	17607	304	11	4	1583	4	ZBTB47	3	42703080	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	4047549	42703080	155319350	6	105											
ZNF80	7634	broad.mit.edu	37	3	113955352	113955352	+	Silent	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:113955352C>T	ENST00000482457.2	-	1	1073	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCACTGCACTTGCAGGGCT	0.478													47	75					0	0	1	0	0	T	113955352	C	T	113955352	2	4	7	1	0	0	0	0	0	0	0	1	18217	564	20	3		3	ZNF80	3	113955352	Silent	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08	71252272	113955352	84067078	7	106											
BDH1	622	broad.mit.edu	37	3	197273266	197273266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:197273266delT	ENST00000392379.1	-	3	450	c.49delA	c.(49-51)ccfs	p.T17fs	BDH1_ENST00000441275.1_Intron|BDH1_ENST00000392378.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	17					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCACTTAGGGTTTTTCCTGGG	0.552													33	50	---	---	---	---						-	197273266	T	-	197273266	7	5	7	1	0	1	0	1	0	0	0	0	1388	1725	60	0	1006	0	BDH1	3	197273266	Frame_Shift_Del	DEL	T	TCGA-PR-A5PF-01A-11D-A35D-08	83317914	197273266	749164	8	107											
RUFY3	22902	broad.mit.edu	37	4	71634293	71634293	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr4:71634293A>G	ENST00000226328.4	+	5	1174	c.611A>G	c.(610-612)gAa>gGa	p.E204G	RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G|RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	204	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATGGAAGAAGAAGGAGCCATA	0.413													51	67					0	0	1	0	0	G	71634293	A	G	71634293	3	3	7	1	0	0	0	0	1	0	0	0	13792	246	9	4	991	4	RUFY3	4	71634293	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		71634293	119519983	9	108											
AGXT2	64902	broad.mit.edu	37	5	35039553	35039553	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr5:35039553C>T	ENST00000231420.6	-	3	438	c.238G>A	c.(238-240)Gca>Aca	p.A80T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	80					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGGAAATATGCCGTCACCACA	0.473													4	74					0	0	1	0	0	T	35039553	C	T	35039553	3	4	7	1	0	0	0	0	1	0	0	0	402	739	26	3	1354	3	AGXT2	5	35039553	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		35039553	145875707	10	109											
TNXB	7148	broad.mit.edu	37	6	32053641	32053641	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:32053641C>T	ENST00000375244.3	-	7	3235	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I			P22105	TENX_HUMAN	tenascin XB	1099	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTGGCGGACGTCCCCTGGC	0.657													25	41					0	0	1	0	0	T	32053641	C	T	32053641	3	4	7	1	0	0	0	0	1	0	0	0	16406	536	19	1	11831	1	TNXB	6	32053641	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		32053641	139061426	11	110											
EYS	346007	broad.mit.edu	37	6	66204999	66204999	+	Missense_Mutation	SNP	T	T	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:66204999T>A	ENST00000503581.1	-	4	842	c.305A>T	c.(304-306)aAt>aTt	p.N102I	EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I|EYS_ENST00000370618.3_Missense_Mutation_p.N102I|EYS_ENST00000370621.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	102					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCATCAAATTTATTTCTGG	0.378													8	51					0	0	1	0	0	A	66204999	T	A	66204999	3	1	7	1	0	0	0	0	1	0	0	0	5360	1493	52	5	9251	5	EYS	6	66204999	Missense_Mutation	SNP	T	TCGA-PR-A5PF-01A-11D-A35D-08	34151358	66204999	104910068	12	111											
AKAP9	10142	broad.mit.edu	37	7	91715671	91715671	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr7:91715671C>G	ENST00000359028.2	+	37	9391	c.9166C>G	c.(9166-9168)Cta>Gta	p.L3056V	AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3056					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGACAGCTCTAGGTACTAC	0.388			T	BRAF	papillary thyroid								8	195					0	0	1	0	0	G	91715671	C	G	91715671	3	3	7	1	0	0	0	0	1	0	0	0	456	912	32	5	9300	5	AKAP9	7	91715671	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		91715671	67422992	13	112											
MCPH1	79648	broad.mit.edu	37	8	6264189	6264189	+	Translation_Start_Site	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr8:6264189A>G	ENST00000344683.5	+	1	77	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	MCPH1_ENST00000519480.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000522905.1_Start_Codon_SNP_p.M1V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	1	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GCCGTCTGTCATGGCGGCCCC	0.726													3	3					0	0	1	0	0	G	6264189	A	G	6264189	1	3	7	1	0	0	0	0	0	0	0	0	9448	217	8	4		4	MCPH1	8	6264189	Translation_Start_Site	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		6264189	140099833	14	113											
ZFP41	286128	broad.mit.edu	37	8	144332586	144332586	+	Silent	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr8:144332586A>G	ENST00000330701.4	+	2	942	c.573A>G	c.(571-573)aaA>aaG	p.K191K	ZFP41_ENST00000520584.1_Silent_p.K191K|ZFP41_ENST00000522452.1_Silent_p.K191K	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	191					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCATCAGAAACGCCACCCTC	0.642													12	75					0	0	1	0	0	G	144332586	A	G	144332586	2	3	7	1	0	0	0	0	0	0	0	1	17707	40	2	4		4	ZFP41	8	144332586	Silent	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	138068397	144332586	2031436	15	114											
NLRP6	171389	broad.mit.edu	37	11	284621	284621	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:284621G>A	ENST00000534750.1	+	7	2721	c.2516G>A	c.(2515-2517)gGa>gAa	p.G839E	NLRP6_ENST00000312165.5_Missense_Mutation_p.G840E	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	840						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCACCAGGGATGCGGCCTG	0.692													3	17					0	0	1	0	0	A	284621	G	A	284621	3	1	7	1	0	0	0	0	1	0	0	0	10528	1174	41	3	2545	3	NLRP6	11	284621	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		284621	134721895	16	115											
B4GALNT4	338707	broad.mit.edu	37	11	375706	375706	+	Silent	SNP	G	G	C			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:375706G>C	ENST00000329962.6	+	10	918	c.918G>C	c.(916-918)ggG>ggC	p.G306G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	306						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGGGGGGGCGTCCGCCGC	0.677													6	27					0	0	1	0	0	C	375706	G	C	375706	2	2	7	1	0	0	0	0	0	0	0	1	1267	1190	42	5		5	B4GALNT4	11	375706	Silent	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	91085	375706	134630810	17	116											
EMG1	10436	broad.mit.edu	37	12	7084784	7084784	+	RNA	DEL	T	T	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr12:7084784delT	ENST00000546220.1	+	0	651				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCAGCCATAGTTTTCCTGCCC	0.438													9	17	---	---	---	---						-	7084784	T	-	7084784	6	5	7	0	1	1	0	1	0	0	0	0	5118	1740	60	0		0	EMG1	12	7084784	RNA	DEL	T	TCGA-PR-A5PF-01A-11D-A35D-08		7084784	126767111	18	117											
KRT72	140807	broad.mit.edu	37	12	52981542	52981542	+	Missense_Mutation	SNP	C	C	T	rs145882334	byFrequency	TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr12:52981542C>T	ENST00000293745.2	-	7	1268	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	KRT72_ENST00000537672.2_Missense_Mutation_p.A395T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	395	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGCAGGGCGCCCTCCAGC	0.662													37	50					0	0	1	0	0	T	52981542	C	T	52981542	3	4	7	1	0	0	0	0	1	0	0	0	8528	768	27	1	364	1	KRT72	12	52981542	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08	45896758	52981542	80870353	19	118											
PPP1R14D	54866	broad.mit.edu	37	15	41120792	41120792	+	Silent	SNP	C	C	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr15:41120792C>A	ENST00000299174.5	-	1	115	c.48G>T	c.(46-48)ggG>ggT	p.G16G	PPP1R14D_ENST00000427255.2_Silent_p.G16G	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	16					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGGTTCTCCCCATCTGGGC	0.557													9	34					1.76689e-08	1.82044e-08	1	1	0	A	41120792	C	A	41120792	2	1	7	1	0	0	0	0	0	0	0	1	12411	610	22	5		5	PPP1R14D	15	41120792	Silent	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		41120792	61410600	20	119											
CCDC64B	146439	broad.mit.edu	37	16	3085362	3085362	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:3085362C>G	ENST00000572449.1	-	2	198	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	46										breast(1)|endometrium(2)|large_intestine(1)	4						TCCTCGGGCTCCTCAGGCCCT	0.662													6	3					0	0	1	0	0	G	3085362	C	G	3085362	3	3	7	1	0	0	0	0	1	0	0	0	2856	864	30	5	1426	5	CCDC64B	16	3085362	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		3085362	87269391	21	120											
ACSM2B	348158	broad.mit.edu	37	16	20565160	20565160	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:20565160G>A	ENST00000329697.6	-	5	847	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F	ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	227					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTGGGAAGACCACTGGTC	0.512													11	27					0	0	1	0	0	A	20565160	G	A	20565160	3	1	7	1	0	0	0	0	1	0	0	0	184	942	33	3	1094	3	ACSM2B	16	20565160	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	17479798	20565160	69789593	22	121											
TBC1D10B	26000	broad.mit.edu	37	16	30369824	30369824	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:30369824T>C	ENST00000409939.3	-	9	1948	c.1868A>G	c.(1867-1869)gAa>gGa	p.E623G		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	623						cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCCCCGCGTTTCCCGCCACTT	0.647													8	2					0	0	1	0	0	C	30369824	T	C	30369824	3	2	7	1	0	0	0	0	1	0	0	0	15656	1783	62	4	562	4	TBC1D10B	16	30369824	Missense_Mutation	SNP	T	TCGA-PR-A5PF-01A-11D-A35D-08	9804664	30369824	59984929	23	122											
MINK1	50488	broad.mit.edu	37	17	4788820	4788820	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr17:4788820G>A	ENST00000355280.6	+	7	747	c.551G>A	c.(550-552)aGa>aAa	p.R184K	MINK1_ENST00000347992.7_Missense_Mutation_p.R184K|MINK1_ENST00000453408.3_Missense_Mutation_p.R184K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	184	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCGTGGGCAGACGGAACACT	0.567													29	58					0	0	1	0	0	A	4788820	G	A	4788820	3	1	7	1	0	0	0	0	1	0	0	0	9635	942	33	3	316	3	MINK1	17	4788820	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		4788820	76406390	24	123											
ADAMTS10	81794	broad.mit.edu	37	19	8654799	8654799	+	Missense_Mutation	SNP	A	A	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr19:8654799A>T	ENST00000270328.4	-	15	2140	c.1874T>A	c.(1873-1875)tTc>tAc	p.F625Y	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.F625Y|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	625	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACTTGTAGAATTTCCCACG	0.577													31	33					0	0	1	0	0	T	8654799	A	T	8654799	3	4	7	1	0	0	0	0	1	0	0	0	255	246	9	5	1481	5	ADAMTS10	19	8654799	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		8654799	50474184	25	124											
RALGAPB	57148	broad.mit.edu	37	20	37179720	37179720	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:37179720G>A	ENST00000262879.6	+	21	3300	c.3016G>A	c.(3016-3018)Gta>Ata	p.V1006I	RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1006					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGCTTTTTGTACCTGAACC	0.388													5	153					0	0	1	0	0	A	37179720	G	A	37179720	3	1	7	1	0	0	0	0	1	0	0	0	13067	1377	48	3	3094	3	RALGAPB	20	37179720	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		37179720	25845800	26	125											
RBM38	55544	broad.mit.edu	37	20	55982660	55982660	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:55982660G>A	ENST00000356208.5	+	4	653	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	RBM38_ENST00000371219.2_Missense_Mutation_p.A79T|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	160					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GATCCCAGCCGCCCCTGTCCC	0.662													3	32					0	0	1	0	0	A	55982660	G	A	55982660	3	1	7	1	0	0	0	0	1	0	0	0	13184	1087	38	1	251	1	RBM38	20	55982660	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	18802940	55982660	7042860	27	126											
ZC3H7B	23264	broad.mit.edu	37	22	41721866	41721866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:41721866delC	ENST00000352645.4	+	4	486	c.229delC	c.(229-231)ccfs	p.P77fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	77					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGTGGCCCTGCCCCGGGAGCT	0.592													2	4	---	---	---	---						-	41721866	C	-	41721866	7	5	7	1	0	1	0	1	0	0	0	0	17632	739	26	0	239	0	ZC3H7B	22	41721866	Frame_Shift_Del	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		41721866	9582700	28	127											
TUBGCP6	85378	broad.mit.edu	37	22	50657281	50657281	+	Missense_Mutation	SNP	G	G	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:50657281G>T	ENST00000248846.5	-	21	4776	c.4672C>A	c.(4672-4674)Ctg>Atg	p.L1558M	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1558					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACAGAGTTCAGCACCAGCGGG	0.637													15	7					9.7654e-05	9.7654e-05	1	1	0	T	50657281	G	T	50657281	3	4	7	1	0	0	0	0	1	0	0	0	16832	962	34	5	807	5	TUBGCP6	22	50657281	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	8935415	50657281	647285	29	128											
TMCO4	255104	broad.mit.edu	37	1	20067293	20067293	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:20067293G>A	ENST00000294543.6	-	11	1260	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	340						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTACTTTAGGGCCTCCTGGGC	0.577													21	6					0	0	1	0	0	A	20067293	G	A	20067293	3	1	8	1	0	0	0	0	1	0	0	0	16058	1203	42	3	909	3	TMCO4	1	20067293	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08		20067293	229183328	1	129											
CACHD1	57685	broad.mit.edu	37	1	65124466	65124466	+	Missense_Mutation	SNP	A	A	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:65124466A>C	ENST00000371073.2	+	13	1861	c.1861A>C	c.(1861-1863)Act>Cct	p.T621P	CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	621					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAACCTCAACACTGTTCCCAG	0.463													11	8					0	0	1	0	0	C	65124466	A	C	65124466	3	2	8	1	0	0	0	0	1	0	0	0	2555	159	6	5	1758	5	CACHD1	1	65124466	Missense_Mutation	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08	45057173	65124466	184126155	2	130											
ITGA10	8515	broad.mit.edu	37	1	145538808	145538808	+	Splice_Site	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:145538808G>A	ENST00000369304.3	+	24	3094	c.2919_splice	c.e24+1	p.R973_splice	ITGA10_ENST00000539363.1_Splice_Site_p.R830_splice|ITGA10_ENST00000538811.1_Splice_Site_p.R842_splice	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	973					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R973S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCACTCTCAGGGTGAGAAGCT	0.522													16	26					0	0	1	0	0	A	145538808	G	A	145538808	5	1	8	1	0	0	0	0	0	0	1	0	7917	1246	43	3	3013	3	ITGA10	1	145538808	Splice_Site	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	80414342	145538808	103711813	3	131											
CACNA1D	776	broad.mit.edu	37	3	53839013	53839013	+	Silent	SNP	A	A	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr3:53839013A>G	ENST00000288139.3	+	46	5767	c.5649A>G	c.(5647-5649)caA>caG	p.Q1883Q	CACNA1D_ENST00000544977.1_Silent_p.Q242Q|CACNA1D_ENST00000350061.5_Silent_p.Q1863Q|CACNA1D_ENST00000422281.2_Silent_p.Q1839Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1863					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTCCAGGCAAAACTATGGCT	0.552													28	33					0	0	1	0	0	G	53839013	A	G	53839013	2	3	8	1	0	0	0	0	0	0	0	1	2559	11	1	4		4	CACNA1D	3	53839013	Silent	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08		53839013	144183417	4	132											
KIAA1984	84960	broad.mit.edu	37	9	139694454	139694455	+	Splice_Site	INS	-	-	AAGA			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr9:139694454_139694455insAAGA	ENST00000338005.6	+	4	306_307	c.270_splice	c.e4-1	p.G91_splice	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	91										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCCGACCCAGGTGGTGCGGGAG	0.688													2	4	---	---	---	---						AAGA	139694455	-	AAGA	139694454	8	5	8	1	0	1	1	0	0	0	1	0	8308	1275	44	0	285	0	KIAA1984	9	139694454	Splice_Site	INS	-	TCGA-PR-A5PG-01A-11D-A35D-08		139694454	1518977	5	133											
FAM53B	9679	broad.mit.edu	37	10	126370689	126370689	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr10:126370689C>G	ENST00000337318.3	-	4	604	c.393G>C	c.(391-393)agG>agC	p.R131S	FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	131										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCCCAAGGGCCTCCATGATG	0.612													6	12					0	0	1	0	0	G	126370689	C	G	126370689	3	3	8	1	0	0	0	0	1	0	0	0	5616	738	26	5	883	5	FAM53B	10	126370689	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		126370689	9164058	6	134											
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			31	21					0	0	1	0	0	G	534286	C	G	534286	3	3	8	1	0	0	0	0	1	0	0	0	7389	652	23	5	615	5	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		534286	134472230	7	135											
MUC5B	727897	broad.mit.edu	37	11	1270623	1270623	+	Silent	SNP	C	C	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:1270623C>A	ENST00000447027.1	+	31	12580	c.12522C>A	c.(12520-12522)ggC>ggA	p.G4174G	MUC5B_ENST00000529681.1_Silent_p.G4171G|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4171	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCCCTGGGCCTCGAGTGCC	0.682													25	76					4.62619e-21	4.96469e-21	1	1	0	A	1270623	C	A	1270623	2	1	8	1	0	0	0	0	0	0	0	1	10027	726	26	5		5	MUC5B	11	1270623	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	736337	1270623	133735893	8	136											
PPP1R14B	26472	broad.mit.edu	37	11	64014017	64014017	+	Silent	SNP	C	C	G	rs1063811		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.5_ENST00000544553.1_RNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721													3	20					0	0	1	0	0	G	64014017	C	G	64014017	2	3	8	1	0	0	0	0	0	0	0	1	12409	610	22	5		5	PPP1R14B	11	64014017	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	62743394	64014017	70992499	9	137											
TTC12	54970	broad.mit.edu	37	11	113212566	113212566	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:113212566T>C	ENST00000393020.1	+	12	1309	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	TTC12_ENST00000483239.2_Missense_Mutation_p.S308P|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.S302P			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	302							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TAGGTGTTTTTCCACAGCAGG	0.423													32	58					0	0	1	0	0	C	113212566	T	C	113212566	3	2	8	1	0	0	0	0	1	0	0	0	16741	1783	62	4	946	4	TTC12	11	113212566	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08	49198549	113212566	21793950	10	138											
KRT3	3850	broad.mit.edu	37	12	53189646	53189646	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr12:53189646C>T	ENST00000417996.2	-	1	255	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	KRT3_ENST00000309505.3_Missense_Mutation_p.G61S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGTTGCCGCCCAGGTTGTAG	0.667													39	84					0	0	1	0	0	T	53189646	C	T	53189646	3	4	8	1	0	0	0	0	1	0	0	0	8509	623	22	3	1741	3	KRT3	12	53189646	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		53189646	80662249	11	139											
BRCA2	675	broad.mit.edu	37	13	32972852	32972852	+	Missense_Mutation	SNP	C	C	T	rs55853199		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr13:32972852C>T	ENST00000544455.1	+	27	10429	c.10202C>T	c.(10201-10203)aCg>aTg	p.T3401M	BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3401					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGGCCAGTACGGAAGAATGT	0.398			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	55					0	0	1	0	0	T	32972852	C	T	32972852	3	4	8	1	0	0	0	0	1	0	0	0	1501	536	19	1	10304	1	BRCA2	13	32972852	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		32972852	82197026	12	140											
CSPG4	1464	broad.mit.edu	37	15	75982728	75982728	+	Silent	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607													3	46					0	0	1	0	0	C	75982728	T	C	75982728	2	2	8	1	0	0	0	0	0	0	0	1	3985	1509	53	4		4	CSPG4	15	75982728	Silent	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08		75982728	26548664	13	141											
C16orf71	146562	broad.mit.edu	37	16	4787829	4787829	+	Missense_Mutation	SNP	T	T	A	rs141702834		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr16:4787829T>A	ENST00000299320.5	+	3	636	c.158T>A	c.(157-159)aTc>aAc	p.I53N	C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	53										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAGCTGTTCATCTTCCAGCGA	0.602													6	65					0	0	1	0	0	A	4787829	T	A	4787829	3	1	8	1	0	0	0	0	1	0	0	0	1837	1435	50	5	164	5	C16orf71	16	4787829	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08		4787829	85566924	14	142											
CDC27	996	broad.mit.edu	37	17	45219308	45219308	+	Silent	SNP	A	A	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:45219308A>G	ENST00000066544.3	-	12	1555	c.1462T>C	c.(1462-1464)Ttg>Ctg	p.L488L	CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000527547.1_Silent_p.L487L|CDC27_ENST00000531206.1_Silent_p.L494L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	488					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGATGGCTCAAAATATTTATA	0.383													73	220					0	0	1	0	0	G	45219308	A	G	45219308	2	3	8	1	0	0	0	0	0	0	0	1	3088	11	1	4		4	CDC27	17	45219308	Silent	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08		45219308	35975902	15	143											
BPTF	2186	broad.mit.edu	37	17	65944414	65944414	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:65944414G>A	ENST00000321892.4	+	25	8357	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K	BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2766					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGCAAATTGAAGTGCAGGT	0.443													5	25					0	0	1	0	0	A	65944414	G	A	65944414	3	1	8	1	0	0	0	0	1	0	0	0	1497	1291	45	3	8394	3	BPTF	17	65944414	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	20725106	65944414	15250796	16	144											
SLC2A10	81031	broad.mit.edu	37	20	45354641	45354641	+	Silent	SNP	C	C	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:45354641C>A	ENST00000359271.2	+	2	1216	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	322						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGCCGTGCCCATGGACTCAG	0.657													20	22					1.56452e-12	1.63903e-12	1	1	0	A	45354641	C	A	45354641	2	1	8	1	0	0	0	0	0	0	0	1	14594	581	21	5		5	SLC2A10	20	45354641	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		45354641	17670879	17	145											
KCNB1	3745	broad.mit.edu	37	20	47991070	47991070	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:47991070T>C	ENST00000371741.4	-	2	1193	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	343					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGAAGATCATAATGCCCATG	0.537													17	32					0	0	1	0	0	C	47991070	T	C	47991070	3	2	8	1	0	0	0	0	1	0	0	0	8056	1406	49	4	1553	4	KCNB1	20	47991070	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08	2636429	47991070	15034450	18	146											
PCMTD2	55251	broad.mit.edu	37	20	62904858	62904858	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:62904858C>T	ENST00000308824.6	+	6	1118	c.991C>T	c.(991-993)Cca>Tca	p.P331S	PCMTD2_ENST00000369758.3_Missense_Mutation_p.P304S|PCMTD2_ENST00000266078.6_Missense_Mutation_p.P107S|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	331						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAACAAAGCCAGACCCCCC	0.507													52	78					0	0	1	0	0	T	62904858	C	T	62904858	3	4	8	1	0	0	0	0	1	0	0	0	11634	739	26	3	1009	3	PCMTD2	20	62904858	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	14913788	62904858	120662	19	147											
CENPI	2491	broad.mit.edu	37	X	100356051	100356051	+	Translation_Start_Site	SNP	T	T	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:100356051T>A	ENST00000372927.1	+	0	269				CENPI_ENST00000218507.5_De_novo_Start_OutOfFrame|CENPI_ENST00000372926.1_De_novo_Start_OutOfFrame|CENPI_ENST00000423383.1_De_novo_Start_OutOfFrame	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTGTAGAACATATGCAGTAAT	0.393													5	123					0	0	1	0	0	A	100356051	T	A	100356051	1	1	8	1	0	0	0	0	0	0	0	0	3255	1421	49	5		5	CENPI	23	100356051	Translation_Start_Site	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08		100356051	54914509	20	148											
LONRF3	79836	broad.mit.edu	37	X	118143095	118143095	+	Missense_Mutation	SNP	G	G	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:118143095G>T	ENST00000365713.2	+	6	1577	c.1414G>T	c.(1414-1416)Gca>Tca	p.A472S	LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.A513S|LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	513					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTAGTGCTTGGCATCAAGAAA	0.378													38	104					3.09479e-21	3.40427e-21	1	1	0	T	118143095	G	T	118143095	3	4	8	1	0	0	0	0	1	0	0	0	8941	1203	42	5	1563	5	LONRF3	23	118143095	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	17787044	118143095	37127465	21	149											
GPR50	9248	broad.mit.edu	37	X	150345211	150345211	+	Silent	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:150345211G>A	ENST00000218316.3	+	1	87	c.18G>A	c.(16-18)gcG>gcA	p.A6A	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	6					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTAGCGGTTCCCACCC	0.557													4	112					0	0	1	0	0	A	150345211	G	A	150345211	2	1	8	1	0	0	0	0	0	0	0	1	6737	1103	39	2		2	GPR50	23	150345211	Silent	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	32202116	150345211	4925349	22	150											
F8	2157	broad.mit.edu	37	X	154159643	154159643	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:154159643C>T	ENST00000360256.4	-	14	2622	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	808	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCAACAAATCACTAGAGGAG	0.413													67	90					0	0	1	0	0	T	154159643	C	T	154159643	3	4	8	1	0	0	0	0	1	0	0	0	5378	826	29	3	4713	3	F8	23	154159643	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	3814432	154159643	1110917	23	151											
COL9A2	1298	broad.mit.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927	by1000genomes	TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649													3	3	---	---	---	---						GGAG	40768484	-	GGAG	40768483	8	5	9	1	0	1	1	0	0	0	1	0	3731	1594	55	0	479	0	COL9A2	1	40768483	Splice_Site	INS	-	TCGA-PR-A5PH-01A-11D-A35D-08		40768483	208482138	1	152											
CDKN2C	1031	broad.mit.edu	37	1	51439844	51439844	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:51439844G>A	ENST00000262662.1	+	4	2443	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	137					cell cycle arrest|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|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GAACCATAAGGGGGACACCGC	0.577			D		"glioma, MM"								10	13					0	0	1	0	0	A	51439844	G	A	51439844	3	1	9	1	0	0	0	0	1	0	0	0	3187	1232	43	3	415	3	CDKN2C	1	51439844	Missense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	10671361	51439844	197810777	2	153											
LMNA	4000	broad.mit.edu	37	1	156106111	156106111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:156106111G>T	ENST00000368300.4	+	7	1476	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	422	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCGCAAACTGGAGTCCACTGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				14	31					9.05144e-12	9.39957e-12	1	1	0	T	156106111	G	T	156106111	4	4	9	1	0	0	0	0	0	1	0	0	8889	1175	41	5	1290	5	LMNA	1	156106111	Nonsense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	104666267	156106111	93144510	3	154											
DGUOK	1716	broad.mit.edu	37	2	74154050	74154050	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:74154050C>T	ENST00000264093.4	+	1	98	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C|DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	5					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GGCCGCGGGCCGCCTCTTTCT	0.657													13	23					0	0	1	0	0	T	74154050	C	T	74154050	3	4	9	1	0	0	0	0	1	0	0	0	4503	652	23	2	15	2	DGUOK	2	74154050	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		74154050	169045323	4	155											
ACTR1B	10120	broad.mit.edu	37	2	98275013	98275013	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:98275013G>A	ENST00000289228.5	-	6	750	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	178						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCATGATGGAGTGAGGCATGG	0.602													27	42					0	0	1	0	0	A	98275013	G	A	98275013	2	1	9	1	0	0	0	0	0	0	0	1	210	1020	36	3		3	ACTR1B	2	98275013	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	24120963	98275013	144924360	5	156											
MERTK	10461	broad.mit.edu	37	2	112755020	112755020	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:112755020C>T	ENST00000295408.4	+	10	1828	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	MERTK_ENST00000421804.2_Missense_Mutation_p.A524V|MERTK_ENST00000409780.1_Missense_Mutation_p.A348V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	524					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATCTCCTTGGCCATCAGAAAA	0.433													4	85					0	0	1	0	0	T	112755020	C	T	112755020	3	4	9	1	0	0	0	0	1	0	0	0	9529	739	26	3	1609	3	MERTK	2	112755020	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08	14480007	112755020	130444353	6	157											
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:123383036G>A	ENST00000360772.3	-	24	4279	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627													4	114					0	0	1	0	0	A	123383036	G	A	123383036	3	1	9	1	0	0	0	0	1	0	0	0	10104	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		123383036	74639394	7	158											
ATP13A4	84239	broad.mit.edu	37	3	193183900	193183900	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:193183900T>C	ENST00000342695.4	-	11	1508	c.1186A>G	c.(1186-1188)Agg>Ggg	p.R396G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	396					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGGCATCCCTGTACAACTGA	0.478													81	126					0	0	1	0	0	C	193183900	T	C	193183900	3	2	9	1	0	0	0	0	1	0	0	0	1125	1579	55	4	2484	4	ATP13A4	3	193183900	Missense_Mutation	SNP	T	TCGA-PR-A5PH-01A-11D-A35D-08	69800864	193183900	4838530	8	159											
PTPN13	0	broad.mit.edu	37	4	87701607	87701607	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr4:87701607A>G	ENST00000436978.1	+	36	6439	c.5959A>G	c.(5959-5961)Aag>Gag	p.K1987E	PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000411767.2_Missense_Mutation_p.K1982E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1982						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAGCTCCAAAGTCAaccaa	0.403													6	15					0	0	1	0	0	G	87701607	A	G	87701607	3	3	9	1	0	0	0	0	1	0	0	0	12832	15	1	4	6097	4	PTPN13	4	87701607	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		87701607	103452669	9	160											
FAM105B	90268	broad.mit.edu	37	5	14690382	14690382	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr5:14690382C>G	ENST00000284274.4	+	6	907	c.829C>G	c.(829-831)Ctc>Gtc	p.L277V		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	277										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GAGGAACCACCTCAACCAGGT	0.423													20	44					0	0	1	0	0	G	14690382	C	G	14690382	3	3	9	1	0	0	0	0	1	0	0	0	5419	681	24	5	851	5	FAM105B	5	14690382	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		14690382	166224878	10	161											
FAM162B	221303	broad.mit.edu	37	6	117086577	117086577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr6:117086577delG	ENST00000368557.4	-	1	309	c.163delC	c.(163-165)aafs	p.Q55fs		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	55						integral to membrane				large_intestine(2)|lung(4)	6						CCGTGACCTTGGGGCCCAGAA	0.766													2	4	---	---	---	---						-	117086577	G	-	117086577	7	5	9	1	0	1	0	1	0	0	0	0	5505	1357	47	0	341	0	FAM162B	6	117086577	Frame_Shift_Del	DEL	G	TCGA-PR-A5PH-01A-11D-A35D-08		117086577	54028490	11	162											
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													7	11					0	0	1	0	0	C	134218293	A	C	134218293	3	2	9	1	0	0	0	0	1	0	0	0	12898	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		134218293	1316454	12	163											
OR8J3	81168	broad.mit.edu	37	11	55904696	55904696	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr11:55904696A>G	ENST00000301529.1	-	1	498	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCAATAAGACACAGAGAAT	0.413													4	62					0	0	1	0	0	G	55904696	A	G	55904696	3	3	9	1	0	0	0	0	1	0	0	0	11289	275	10	4	450	4	OR8J3	11	55904696	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		55904696	79101820	13	164											
DOCK9	23348	broad.mit.edu	37	13	99538837	99538837	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr13:99538837G>A	ENST00000376460.1	-	19	2165	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	DOCK9_ENST00000448493.2_Silent_p.S707S|DOCK9_ENST00000442173.1_Silent_p.S695S|DOCK9_ENST00000339416.2_Silent_p.S696S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	696	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAAAGGCGCTTCTTGTGA	0.383													15	20					0	0	1	0	0	A	99538837	G	A	99538837	2	1	9	1	0	0	0	0	0	0	0	1	4721	1078	38	1		1	DOCK9	13	99538837	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		99538837	15631041	14	165											
IGDCC4	57722	broad.mit.edu	37	15	65689295	65689295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr15:65689295delG	ENST00000352385.2	-	6	1083	c.874delC	c.(874-876)tgfs	p.L292fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	292	Ig-like C2-type 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGCGGCCCAGGACGATGACA	0.652													2	4	---	---	---	---						-	65689295	G	-	65689295	7	5	9	1	0	1	0	1	0	0	0	0	7613	991	35	0	2938	0	IGDCC4	15	65689295	Frame_Shift_Del	DEL	G	TCGA-PR-A5PH-01A-11D-A35D-08		65689295	36842097	15	166											
SLC46A1	113235	broad.mit.edu	37	17	26731690	26731690	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr17:26731690T>C	ENST00000440501.1	-	2	1120	c.1025A>G	c.(1024-1026)aAc>aGc	p.N342S	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	342					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	CCCCAGGATGTTGAAGGCCAG	0.597													8	13					0	0	1	0	0	C	26731690	T	C	26731690	3	2	9	1	0	0	0	0	1	0	0	0	14699	1725	60	4	371	4	SLC46A1	17	26731690	Missense_Mutation	SNP	T	TCGA-PR-A5PH-01A-11D-A35D-08		26731690	54463520	16	167											
ZNF574	64763	broad.mit.edu	37	19	42584207	42584207	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr19:42584207G>A	ENST00000600245.1	+	2	2104	c.1449G>A	c.(1447-1449)cgG>cgA	p.R483R	ZNF574_ENST00000359044.4_Silent_p.R483R|ZNF574_ENST00000222339.7_Silent_p.R573R|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCTGACCCGGCACCAACGTT	0.597													4	105					0	0	1	0	0	A	42584207	G	A	42584207	2	1	9	1	0	0	0	0	0	0	0	1	18063	1190	42	3		3	ZNF574	19	42584207	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		42584207	16544776	17	168											
PCDH11Y	83259	broad.mit.edu	37	Y	4968046	4968046	+	Silent	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chrY:4968046C>T	ENST00000333703.4	+	5	2907	c.2394C>T	c.(2392-2394)acC>acT	p.T798T	PCDH11Y_ENST00000362095.5_Silent_p.T809T|PCDH11Y_ENST00000215473.6_Silent_p.T809T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	809	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGTGACCAATGCTACAC	0.423													4	73					0	0	1	0	0	T	4968046	C	T	4968046	2	4	9	1	0	0	0	0	0	0	0	1	11556	581	21	3		3	PCDH11Y	24	4968046	Silent	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		4968046	54405520	18	169											
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)			6	76					0	0	1	0	0	A	189582120	G	A	189582120	3	1	10	1	0	0	0	0	1	0	0	0	16453	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		189582120	8440310	1	170											
LETM1	3954	broad.mit.edu	37	4	1816225	1816225	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:1816225T>C	ENST00000302787.2	-	14	2442	c.2146A>G	c.(2146-2148)Aaa>Gaa	p.K716E		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	716					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ttctcctCTTTTTCCAGTGTT	0.542													4	32					0	0	1	0	0	C	1816225	T	C	1816225	3	2	10	1	0	0	0	0	1	0	0	0	8773	1850	64	4	77	4	LETM1	4	1816225	Missense_Mutation	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		1816225	189338051	2	171											
STIM2	57620	broad.mit.edu	37	4	27024340	27024340	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:27024340G>A	ENST00000382009.3	+	13	2515	c.2248G>A	c.(2248-2250)Ggt>Agt	p.G750S	STIM2_ENST00000467087.1_Missense_Mutation_p.G655S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000467011.1_3'UTR	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	655					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGACTGTGTAGGTCTGACAGA	0.483													4	120					0	0	1	0	0	A	27024340	G	A	27024340	3	1	10	1	0	0	0	0	1	0	0	0	15340	1000	35	3	2078	3	STIM2	4	27024340	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08	25208115	27024340	164129936	3	172											
ZNF425	155054	broad.mit.edu	37	7	148802161	148802162	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr7:148802161_148802162insGA	ENST00000378061.2	-	4	933_934	c.801_802insTC	c.(799-804)gtacacfs	p.VH267fs		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	267					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGCCGGTGTGGACAACCTGAT	0.619													17	67	---	---	---	---						GA	148802162	-	GA	148802161	7	5	10	1	0	1	1	0	0	0	0	0	17956	1348	47	0	1460	0	ZNF425	7	148802161	Frame_Shift_Ins	INS	-	TCGA-QR-A6GO-01A-11D-A35D-08		148802161	10336502	4	173											
ASPH	444	broad.mit.edu	37	8	62596684	62596684	+	Missense_Mutation	SNP	G	G	A	rs149440176		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr8:62596684G>A	ENST00000541428.1	-	2	240	c.80C>T	c.(79-81)aCg>aTg	p.T27M	ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000379454.4_Missense_Mutation_p.T56M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	56	Ser-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATAAACCACGTGAAGAATGA	0.403													9	113					0	0	1	0	0	A	62596684	G	A	62596684	3	1	10	1	0	0	0	0	1	0	0	0	1052	1145	40	1	2921	1	ASPH	8	62596684	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		62596684	83767338	5	174											
TSPAN32	10077	broad.mit.edu	37	11	2337870	2337870	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:2337870G>A	ENST00000182290.4	+	8	829	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	231					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCTTGGACCGCAAGGGCAAA	0.667													4	81					0	0	1	0	0	A	2337870	G	A	2337870	3	1	10	1	0	0	0	0	1	0	0	0	16708	1087	38	1	722	1	TSPAN32	11	2337870	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		2337870	132668646	6	175											
CCDC86	79080	broad.mit.edu	37	11	60615402	60615402	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:60615402C>T	ENST00000227520.5	+	2	818	c.764C>T	c.(763-765)tCc>tTc	p.S255F	CCDC86_ENST00000545580.1_5'UTR|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	255					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TTCAGATTCTCCCAGATGCTT	0.617													15	192					0	0	1	0	0	T	60615402	C	T	60615402	3	4	10	1	0	0	0	0	1	0	0	0	2881	855	30	3	770	3	CCDC86	11	60615402	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08	58277532	60615402	74391114	7	176											
P2RY6	0	broad.mit.edu	37	11	73008374	73008374	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:73008374G>A	ENST00000393590.2	+	2	1110	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	271					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GACGCCGGGCGTCCCCTGCAC	0.627													5	79					0	0	1	0	0	A	73008374	G	A	73008374	3	1	10	1	0	0	0	0	1	0	0	0	11401	1145	40	1	813	1	P2RY6	11	73008374	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08	12392972	73008374	61998142	8	177											
AKAP11	11215	broad.mit.edu	37	13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368													4	122					0	0	1	0	0	T	42876661	C	T	42876661	3	4	10	1	0	0	0	0	1	0	0	0	444	768	27	1	3801	1	AKAP11	13	42876661	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		42876661	72293217	9	178											
LTBP2	4053	broad.mit.edu	37	14	74968293	74968293	+	Splice_Site	SNP	T	T	G			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr14:74968293T>G	ENST00000261978.4	-	35	5557	c.5170_splice	c.e35-1	p.E1724_splice	LTBP2_ENST00000556690.1_Splice_Site_p.E1680_splice	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1724					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTGGGGGCTCTGGGAGGAG	0.647											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	39					0	0	1	0	0	G	74968293	T	G	74968293	5	3	10	1	0	0	0	0	0	0	1	0	9119	1565	54	5	302	5	LTBP2	14	74968293	Splice_Site	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		74968293	32381247	10	179											
ONECUT1	3175	broad.mit.edu	37	15	53081412	53081412	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr15:53081412C>T	ENST00000305901.5	-	1	797	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	224					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCGAGCATGGCCGGGTGGTGG	0.701													7	74					0	0	1	0	0	T	53081412	C	T	53081412	3	4	10	1	0	0	0	0	1	0	0	0	10916	739	26	3	735	3	ONECUT1	15	53081412	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		53081412	49449980	11	180											
USP32	84669	broad.mit.edu	37	17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	rs17405746		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443													4	134					0	0	1	0	0	T	58257980	C	T	58257980	3	4	10	1	0	0	0	0	1	0	0	0	17123	623	22	3	255	3	USP32	17	58257980	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		58257980	22937230	12	181											
CACNA1A	773	broad.mit.edu	37	19	13341013	13341013	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr19:13341013A>C	ENST00000360228.5	-	36	5410	c.5411T>G	c.(5410-5412)cTc>cGc	p.L1804R	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCGACAAAGAGATTCAGCAT	0.577													12	19					0	0	1	0	0	C	13341013	A	C	13341013	3	2	10	1	0	0	0	0	1	0	0	0	2556	304	11	5	2258	5	CACNA1A	19	13341013	Missense_Mutation	SNP	A	TCGA-QR-A6GO-01A-11D-A35D-08		13341013	45787970	13	182											
BCOR	54880	broad.mit.edu	37	X	39937137	39937137	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chrX:39937137T>G	ENST00000342274.4	-	2	408	c.46A>C	c.(46-48)Aac>Cac	p.N16H	BCOR_ENST00000397354.3_Missense_Mutation_p.N16H|BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000378444.4_Missense_Mutation_p.N16H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	16					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTCTCGCTGTTCATCCAGCTG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						37	16					0	0	1	0	0	G	39937137	T	G	39937137	3	3	10	1	0	0	0	0	1	0	0	0	1384	1783	62	5	5277	5	BCOR	23	39937137	Missense_Mutation	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		39937137	115333423	14	183											
BRE	9577	broad.mit.edu	37	2	28550178	28550178	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:28550178G>A	ENST00000344773.2	+	12	1264	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGTGGGAGCAAGTCCT	0.617													25	44					0	0	1	0	0	A	28550178	G	A	28550178	3	1	11	1	0	0	0	0	1	0	0	0	1511	1175	41	3	1215	3	BRE	2	28550178	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		28550178	214649195	1	184											
MAL	4118	broad.mit.edu	37	2	95713828	95713828	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713828A>G	ENST00000309988.4	+	2	327	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	MAL_ENST00000353004.3_Missense_Mutation_p.Y73C|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	73	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ATCATCCTGTACATAATTGGA	0.622													10	31					0	0	1	0	0	G	95713828	A	G	95713828	3	3	11	1	0	0	0	0	1	0	0	0	9249	391	14	4	224	4	MAL	2	95713828	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	67163650	95713828	147485545	2	185	2	2									
MAL	4118	broad.mit.edu	37	2	95713830	95713830	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713830A>G	ENST00000309988.4	+	2	329	c.220A>G	c.(220-222)Ata>Gta	p.I74V	MAL_ENST00000353004.3_Missense_Mutation_p.I74V|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	74	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.I74V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CATCCTGTACATAATTGGAGC	0.622													9	31					0	0	1	0	0	G	95713830	A	G	95713830	3	3	11	1	0	0	0	0	1	0	0	0	9249	217	8	4	226	4	MAL	2	95713830	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	2	95713830	147485543	3	186	2	2									
XIRP2	129446	broad.mit.edu	37	2	168115434	168115434	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:168115434T>A	ENST00000409728.1	+	11	2566	c.2477T>A	c.(2476-2478)gTg>gAg	p.V826E	XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAGTCCTGTGCAGCCTGCT	0.443													15	27					0	0	1	0	0	A	168115434	T	A	168115434	3	1	11	1	0	0	0	0	1	0	0	0	17490	1696	59	5	11795	5	XIRP2	2	168115434	Missense_Mutation	SNP	T	TCGA-QR-A6GR-01A-11D-A35D-08	72401604	168115434	75083939	4	187											
SNRK	54861	broad.mit.edu	37	3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr3:43389775C>T	ENST00000296088.7	+	7	2328	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	675					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498													7	54					0	0	1	0	0	T	43389775	C	T	43389775	3	4	11	1	0	0	0	0	1	0	0	0	14905	855	30	3	2042	3	SNRK	3	43389775	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		43389775	154632655	5	188											
SH3TC1	54436	broad.mit.edu	37	4	8207347	8207347	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr4:8207347G>C	ENST00000382521.3	+	3	326	c.256G>C	c.(256-258)Gca>Cca	p.A86P	SH3TC1_ENST00000539824.1_Intron|SH3TC1_ENST00000245105.3_Intron			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	446							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AACAAAACTGGCAAAGAACGA	0.567													8	18					0	0	1	0	0	C	8207347	G	C	8207347	3	2	11	1	0	0	0	0	1	0	0	0	14316	1218	42	5		5	SH3TC1	4	8207347	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		8207347	182946929	6	189											
DNAH8	1769	broad.mit.edu	37	6	38881624	38881624	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:38881624G>A	ENST00000359357.3	+	65	9462		c.e65-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8									p.?(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGTAAAGGTCTTGATAA	0.358													11	34					0	0	1	0	0	A	38881624	G	A	38881624	5	1	11	1	0	0	0	0	0	0	1	0	4634	1014	35	3	9458	3	DNAH8	6	38881624	Splice_Site	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		38881624	132233443	7	190											
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:168281192G>T	ENST00000366806.2	+	6	1034	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL								24	65					1.10923e-09	1.20167e-09	1	1	0	T	168281192	G	T	168281192	3	4	11	1	0	0	0	0	1	0	0	0	9677	1087	38	5	914	5	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08	129399568	168281192	2833875	8	191											
POTEA	340441	broad.mit.edu	37	8	43147783	43147783	+	RNA	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:43147783C>T	ENST00000522175.2	+	0	158							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGACGACAGCGCCTTCACGG	0.607													23	50					0	0	1	0	0	T	43147783	C	T	43147783	1	4	11	0	1	0	0	0	0	0	0	0	12309	767	27	1		1	POTEA	8	43147783	RNA	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		43147783	103216239	9	192											
WWP1	11059	broad.mit.edu	37	8	87470169	87470169	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:87470169A>G	ENST00000517970.1	+	22	2721	c.2414A>G	c.(2413-2415)cAg>cGg	p.Q805R	WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R|WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	805	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGGCATGCAGGAGGTTGAC	0.373													29	43					0	0	1	0	0	G	87470169	A	G	87470169	3	3	11	1	0	0	0	0	1	0	0	0	17475	188	7	4	2492	4	WWP1	8	87470169	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	44322386	87470169	58893853	10	193											
FBXO18	84893	broad.mit.edu	37	10	5960389	5960389	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:5960389C>T	ENST00000379999.5	+	14	2305	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.A683V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	683					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTCCGGGGTGCGGTCAACGCC	0.537													4	105					0	0	1	0	0	T	5960389	C	T	5960389	3	4	11	1	0	0	0	0	1	0	0	0	5764	768	27	1	2260	1	FBXO18	10	5960389	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		5960389	129574358	11	194											
CKAP5	9793	broad.mit.edu	37	11	46765604	46765604	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:46765604C>A	ENST00000529230.1	-	44	6114	c.6068G>T	c.(6067-6069)aGa>aTa	p.R2023I	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2023					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTCCAGTCTTTTTTTCAA	0.473													6	61					0.00307968	0.00307968	1	1	0	A	46765604	C	A	46765604	3	1	11	1	0	0	0	0	1	0	0	0	3468	913	32	5	34	5	CKAP5	11	46765604	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		46765604	88240912	12	195											
GANC	2595	broad.mit.edu	37	15	42614135	42614135	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:42614135G>A	ENST00000318010.8	+	11	1450	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	404					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GCACACTGAGGGCAAGAGGTA	0.463													9	13					0	0	1	0	0	A	42614135	G	A	42614135	3	1	11	1	0	0	0	0	1	0	0	0	6274	1232	43	3	1252	3	GANC	15	42614135	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		42614135	59917257	13	196											
TGM5	9333	broad.mit.edu	37	15	43527804	43527804	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:43527804A>G	ENST00000220420.5	-	10	1584	c.1577T>C	c.(1576-1578)gTc>gCc	p.V526A	TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	526					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCAGCAGGACAAAGCATAT	0.567													11	20					0	0	1	0	0	G	43527804	A	G	43527804	3	3	11	1	0	0	0	0	1	0	0	0	15893	275	10	4	601	4	TGM5	15	43527804	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	913669	43527804	59003588	14	197											
SMAD6	4091	broad.mit.edu	37	15	66996088	66996090	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:66996088_66996090delGCT	ENST00000288840.5	+	1	1523_1525	c.492_494delGCT	c.(490-495)cgg>cg	p.RL164del	SMAD6_ENST00000457357.2_In_Frame_Del_p.RL164del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	164	MH1.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CGCGCTCGCGGCTGCTGCTGCTG	0.759													2	4	---	---	---	---						-	66996090	GCT	-	66996088	7	5	11	1	0	1	0	1	0	0	0	0	14816	1190	42	0	494	0	SMAD6	15	66996088	In_Frame_Del	DEL	GCT	TCGA-QR-A6GR-01A-11D-A35D-08	23468284	66996088	35535304	15	198											
SLFN11	91607	broad.mit.edu	37	17	33679950	33679950	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:33679950C>G	ENST00000394566.1	-	7	2403	c.2131G>C	c.(2131-2133)Gat>Cat	p.D711H	SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	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	711						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)		CCACTGCAATCCAAGTGGCTG	0.483													48	65					0	0	1	0	0	G	33679950	C	G	33679950	3	3	11	1	0	0	0	0	1	0	0	0	14788	855	30	5	578	5	SLFN11	17	33679950	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		33679950	47515260	16	199											
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582													4	32					0	0	1	0	0	G	36453192	T	G	36453192	3	3	11	1	0	0	0	0	1	0	0	0	9858	1725	60	5		5	MRPL45	17	36453192	Missense_Mutation	SNP	T	TCGA-QR-A6GR-01A-11D-A35D-08	2773242	36453192	44742018	17	200											
RALGAPB	57148	broad.mit.edu	37	20	37153542	37153542	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr20:37153542G>A	ENST00000262879.6	+	11	2025	c.1741G>A	c.(1741-1743)Gtg>Atg	p.V581M	RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	581					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATTGATGTTGTGGTTCCTTA	0.408													51	99					0	0	1	0	0	A	37153542	G	A	37153542	3	1	11	1	0	0	0	0	1	0	0	0	13067	1377	48	3	1779	3	RALGAPB	20	37153542	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		37153542	25871978	18	201											
ITSN1	6453	broad.mit.edu	37	21	35154325	35154325	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:35154325C>G	ENST00000381318.3	+	16	2000	c.1712C>G	c.(1711-1713)gCc>gGc	p.A571G	ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	571	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTAAAAGAGCCTTAGAAGCA	0.348													13	26					0	0	1	0	0	G	35154325	C	G	35154325	3	3	11	1	0	0	0	0	1	0	0	0	7970	739	26	5	1770	5	ITSN1	21	35154325	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		35154325	12975570	19	202											
CXorf23	256643	broad.mit.edu	37	X	19983717	19983717	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:19983717G>T	ENST00000379687.3	-	3	752	c.719C>A	c.(718-720)cCt>cAt	p.P240H	CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H|CXorf23_ENST00000379682.4_Missense_Mutation_p.P240H	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	240						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATGCTCAGGCTTCCACTT	0.502													4	95					0.000602214	0.000626303	1	1	0	T	19983717	G	T	19983717	3	4	11	1	0	0	0	0	1	0	0	0	4126	1000	35	5	1365	5	CXorf23	23	19983717	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		19983717	135286843	20	203											
MTMR8	55613	broad.mit.edu	37	X	63445429	63445429	+	Silent	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:63445429C>T	ENST00000453546.1	-	10	1316	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ASB12_ENST00000396130.2_Silent_p.E25E|ASB12_ENST00000362002.2_Silent_p.E34E			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTGCTTCTCCTCTGTGTCAG	0.493													3	19					0	0	1	0	0	T	63445429	C	T	63445429	2	4	11	1	0	0	0	0	0	0	0	1	9997	680	24	3		3	MTMR8	23	63445429	Silent	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08	43461712	63445429	91825131	21	204											
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													7	310					0	0	1	0	0	A	152327955	G	A	152327955	2	1	12	1	0	0	0	0	0	0	0	1	5956	962	34	3		3	FLG2	1	152327955	Silent	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		152327955	96922666	1	205											
HMCN1	83872	broad.mit.edu	37	1	185892705	185892705	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:185892705T>G	ENST00000271588.4	+	8	1434	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	402					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGCTTTCTTTCTCAAAGTA	0.353													9	67					0	0	1	0	0	G	185892705	T	G	185892705	3	3	12	1	0	0	0	0	1	0	0	0	7261	1841	64	5	1235	5	HMCN1	1	185892705	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08	33564750	185892705	63357916	2	206											
PTPN14	5784	broad.mit.edu	37	1	214546172	214546172	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:214546172C>G	ENST00000366956.5	-	16	3112	c.2918G>C	c.(2917-2919)gGc>gCc	p.G973A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	973	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTGCCCCGCCAACCACCAC	0.527													4	41					0	0	1	0	0	G	214546172	C	G	214546172	3	3	12	1	0	0	0	0	1	0	0	0	12833	739	26	5	661	5	PTPN14	1	214546172	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	28653467	214546172	34704449	3	207											
TTN	7273	broad.mit.edu	37	2	179398050	179398050	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr2:179398050G>A	ENST00000589042.1	-	358	103516	c.103292C>T	c.(103291-103293)aCg>aTg	p.T34431M	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32790M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32790							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATAACCCGTGTCTTCAGG	0.488													4	58					0	0	1	0	0	A	179398050	G	A	179398050	3	1	12	1	0	0	0	0	1	0	0	0	16797	1145	40	1	4707	1	TTN	2	179398050	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		179398050	63801323	4	208											
SH3TC1	54436	broad.mit.edu	37	4	8242527	8242527	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:8242527A>G	ENST00000539824.1	+	18	4002	c.3628A>G	c.(3628-3630)Atc>Gtc	p.I1210V	SH3TC1_ENST00000245105.3_Missense_Mutation_p.I1286V			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1286							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGCCACCATCTACCACAA	0.612													5	34					0	0	1	0	0	G	8242527	A	G	8242527	3	3	12	1	0	0	0	0	1	0	0	0	14316	217	8	4	3922	4	SH3TC1	4	8242527	Missense_Mutation	SNP	A	TCGA-QR-A6GS-01A-11D-A35D-08		8242527	182911749	5	209											
RBM47	54502	broad.mit.edu	37	4	40440293	40440293	+	Silent	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:40440293C>T	ENST00000319592.4	-	4	1327	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A|RBM47_ENST00000381793.2_Silent_p.A206A|RBM47_ENST00000295971.7_Silent_p.A206A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCATGGCAGCCGCGCGGTGGC	0.672													4	37					0	0	1	0	0	T	40440293	C	T	40440293	2	4	12	1	0	0	0	0	0	0	0	1	13193	639	23	2		2	RBM47	4	40440293	Silent	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	32197766	40440293	150713983	6	210											
AMBN	258	broad.mit.edu	37	4	71467156	71467156	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:71467156C>T	ENST00000322937.6	+	6	419	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	AMBN_ENST00000449493.2_Intron	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	106					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTGCCTGTGCATCCCCCACC	0.488											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	108					0	0	1	0	0	T	71467156	C	T	71467156	3	4	12	1	0	0	0	0	1	0	0	0	559	710	25	3	338	3	AMBN	4	71467156	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	31026863	71467156	119687120	7	211											
PDE4D	5144	broad.mit.edu	37	5	58273098	58273098	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr5:58273098G>T	ENST00000340635.6	-	12	1802	c.1627C>A	c.(1627-1629)Ctt>Att	p.L543I	PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	543					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCTTCCTGAAGCAATTTAAAG	0.368													8	67					0.335167	0.335167	1	1	0	T	58273098	G	T	58273098	3	4	12	1	0	0	0	0	1	0	0	0	11689	971	34	5	818	5	PDE4D	5	58273098	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		58273098	122642162	8	212											
CASP8AP2	9994	broad.mit.edu	37	6	90556397	90556398	+	RNA	INS	-	-	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr6:90556397_90556398insT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCTAAtttccttttttttttt	0.421													2	4	---	---	---	---						T	90556398	-	T	90556397	6	5	12	0	1	1	1	0	0	0	0	0	2696	696	24	0		0	CASP8AP2	6	90556397	RNA	INS	-	TCGA-QR-A6GS-01A-11D-A35D-08		90556397	80558670	9	213											
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)del	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													4	6	---	---	---	---						-	6662748	CAG	-	6662746	7	5	12	1	0	1	0	1	0	0	0	0	4310	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-QR-A6GS-01A-11D-A35D-08		6662746	128343770	10	214											
KRT83	3889	broad.mit.edu	37	12	52714802	52714802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr12:52714802G>T	ENST00000293670.3	-	1	380	c.318C>A	c.(316-318)tgC>tgA	p.C106*		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	106	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGCGCGT	0.617													5	159					3.59834e-05	3.8465e-05	1	1	0	T	52714802	G	T	52714802	4	4	12	1	0	0	0	0	0	1	0	0	8540	1079	38	5	1199	5	KRT83	12	52714802	Nonsense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		52714802	81137093	11	215											
GCHFR	2644	broad.mit.edu	37	15	41059517	41059517	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:41059517G>C	ENST00000558467.1	+	2	396	c.174G>C	c.(172-174)caG>caC	p.Q58H	GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000260447.4_Missense_Mutation_p.Q75H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	75					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGGTGGGCCAGACGCTGGTGT	0.602													29	48					0	0	1	0	0	C	41059517	G	C	41059517	3	2	12	1	0	0	0	0	1	0	0	0	6332	933	33	5	235	5	GCHFR	15	41059517	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		41059517	61471875	12	216											
CEP152	22995	broad.mit.edu	37	15	49033855	49033855	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:49033855C>T	ENST00000380950.2	-	26	4223	c.4036G>A	c.(4036-4038)Gca>Aca	p.A1346T	CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T|CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1290					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGTAATTTTGCCATTGTAGCA	0.353													4	94					0	0	1	0	0	T	49033855	C	T	49033855	3	4	12	1	0	0	0	0	1	0	0	0	3270	739	26	3	1104	3	CEP152	15	49033855	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	7974338	49033855	53497537	13	217											
NF1	4763	broad.mit.edu	37	17	29541604	29541604	+	Splice_Site	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:29541604G>T	ENST00000358273.4	+	13	1910		c.e13+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTGCTTTGTGTAAGTATTTT	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	4					2.17888e-05	2.41233e-05	1	1	0	T	29541604	G	T	29541604	5	4	12	1	0	0	0	0	0	0	1	0	10403	1391	48	5	1578	5	NF1	17	29541604	Splice_Site	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		29541604	51653606	14	218											
AATK	9625	broad.mit.edu	37	17	79104882	79104882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:79104882delC	ENST00000326724.4	-	3	337	c.313delG	c.(313-315)ccfs	p.A105fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	105						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCTGCTTGGCCATGGGCAAG	0.711													2	4	---	---	---	---						-	79104882	C	-	79104882	7	5	12	1	0	1	0	1	0	0	0	0	26	739	26	0	3859	0	AATK	17	79104882	Frame_Shift_Del	DEL	C	TCGA-QR-A6GS-01A-11D-A35D-08	49563278	79104882	2090328	15	219											
ZNF324B	388569	broad.mit.edu	37	19	58963019	58963019	+	Translation_Start_Site	SNP	G	G	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr19:58963019G>A	ENST00000391696.1	+	0	6				ZNF324B_ENST00000594214.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000545523.1_De_novo_Start_InFrame|ZNF324B_ENST00000336614.4_De_novo_Start_OutOfFrame			Q6AW86	Z324B_HUMAN	zinc finger protein 324B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGCCACACCGGTGGTCTGGG	0.706													8	31					0	0	1	0	0	A	58963019	G	A	58963019	1	1	12	1	0	0	0	0	0	0	0	0	17902	1131	39	2		2	ZNF324B	19	58963019	Translation_Start_Site	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		58963019	165964	16	220											
NAPB	63908	broad.mit.edu	37	20	23375633	23375633	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr20:23375633T>A	ENST00000377026.4	-	5	431	c.346A>T	c.(346-348)Agg>Tgg	p.R116W	NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	116					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					ATTGTAAACCTTCCCTAGGGG	0.413													18	24					0	0	1	0	0	A	23375633	T	A	23375633	3	1	12	1	0	0	0	0	1	0	0	0	10210	1608	56	5	578	5	NAPB	20	23375633	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08		23375633	39649887	17	221											
SCUBE1	80274	broad.mit.edu	37	22	43606947	43606947	+	Silent	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr22:43606947G>T	ENST00000360835.3	-	18	2490	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	788					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGTGACGTTGGTGGAGCCAT	0.642													15	32					3.52763e-06	4.05024e-06	1	1	0	T	43606947	G	T	43606947	2	4	12	1	0	0	0	0	0	0	0	1	13998	1335	47	5		5	SCUBE1	22	43606947	Silent	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		43606947	7697619	18	222											
GPR64	10149	broad.mit.edu	37	X	19027845	19027845	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chrX:19027845T>C	ENST00000354791.3	-	17	1514	c.1273A>G	c.(1273-1275)Ata>Gta	p.I425V	GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V|GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000379869.3_Missense_Mutation_p.I441V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	441					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTTAGACTTATAGTCGTGTTT	0.393													3	81					0	0	1	0	0	C	19027845	T	C	19027845	3	2	12	1	0	0	0	0	1	0	0	0	6745	1406	49	4	1780	4	GPR64	23	19027845	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08		19027845	136242715	19	223											
INSRR	3645	broad.mit.edu	37	1	156815542	156815542	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:156815542G>A	ENST00000368195.3	-	10	2439	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	681	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCATCTCGGCCTCAGGAT	0.637													10	43					0	0	1	0	0	A	156815542	G	A	156815542	2	1	13	1	0	0	0	0	0	0	0	1	7818	1103	39	2		2	INSRR	1	156815542	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		156815542	92435079	1	224											
FAM129A	116496	broad.mit.edu	37	1	184764710	184764710	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:184764710T>G	ENST00000367511.3	-	14	2381	c.2188A>C	c.(2188-2190)Atg>Ctg	p.M730L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	730	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTCTTCCATCACTGGAGCA	0.542													28	88					0	0	1	0	0	G	184764710	T	G	184764710	3	3	13	1	0	0	0	0	1	0	0	0	5467	1435	50	5	602	5	FAM129A	1	184764710	Missense_Mutation	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08	27949168	184764710	64485911	2	225											
RPS27A	6233	broad.mit.edu	37	2	55460001	55460001	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:55460001C>T	ENST00000272317.6	+	2	365	c.41C>T	c.(40-42)aCc>aTc	p.T14I	RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	14	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						AAGACCATCACCCTCGAGGTA	0.537													4	8					0	0	1	0	0	T	55460001	C	T	55460001	3	4	13	1	0	0	0	0	1	0	0	0	13691	507	18	3	43	3	RPS27A	2	55460001	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		55460001	187739372	3	226											
PNO1	56902	broad.mit.edu	37	2	68400518	68400518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:68400518delG	ENST00000263657.2	+	6	751	c.660delG	c.(658-660)atfs	p.M220fs		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	220	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						ATATCAAGATGGCAAGAACTG	0.403													33	62	---	---	---	---						-	68400518	G	-	68400518	7	5	13	1	0	1	0	1	0	0	0	0	12209	1348	47	0	682	0	PNO1	2	68400518	Frame_Shift_Del	DEL	G	TCGA-QR-A6GT-01A-11D-A35D-08	12940517	68400518	174798855	4	227											
TTC31	64427	broad.mit.edu	37	2	74718668	74718668	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:74718668C>A	ENST00000410003.1	+	8	754	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T|TTC31_ENST00000233623.5_Missense_Mutation_p.P249T			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	249							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGGGGATTGGCCCCTCAGTGC	0.562													5	197					1.23904e-05	1.31192e-05	1	1	0	A	74718668	C	A	74718668	3	1	13	1	0	0	0	0	1	0	0	0	16762	739	26	5	775	5	TTC31	2	74718668	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	6318150	74718668	168480705	5	228											
TMEFF2	23671	broad.mit.edu	37	2	193059174	193059175	+	In_Frame_Ins	INS	-	-	GCAGCA			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:193059174_193059175insGCAGCA	ENST00000409056.3	-	1	75_76	c.76_77insTGCTGC	c.(76-78)cgt>TGCTGCcgt	p.25_26insCC	TMEFF2_ENST00000272771.5_In_Frame_Ins_p.25_26insCC|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insCC			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	25						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TAGCATGACGGGCAGCAGCAGC	0.599													10	30	---	---	---	---						GCAGCA	193059175	-	GCAGCA	193059174	7	5	13	1	0	1	1	0	0	0	0	0	16074	1232	43	0	1087	0	TMEFF2	2	193059174	In_Frame_Ins	INS	-	TCGA-QR-A6GT-01A-11D-A35D-08	118340506	193059174	50140199	6	229											
NEK4	6787	broad.mit.edu	37	3	52773447	52773447	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr3:52773447G>A	ENST00000233027.5	-	14	2499	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEK4_ENST00000535191.1_Missense_Mutation_p.S677L|NEK4_ENST00000383721.4_Missense_Mutation_p.S720L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	766					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTGATCACCTGAAGGTAGCTC	0.428													34	41					0	0	1	0	0	A	52773447	G	A	52773447	3	1	13	1	0	0	0	0	1	0	0	0	10373	1294	45	3	240	3	NEK4	3	52773447	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		52773447	145248983	7	230											
SRP72	6731	broad.mit.edu	37	4	57350934	57350934	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:57350934A>T	ENST00000342756.5	+	10	1711	c.990A>T	c.(988-990)ttA>ttT	p.L330F	SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	330					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCAGTTTACAGTCCCAAA	0.428													36	76					0	0	1	0	0	T	57350934	A	T	57350934	3	4	13	1	0	0	0	0	1	0	0	0	15213	388	14	5	1028	5	SRP72	4	57350934	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		57350934	133803342	8	231											
LPHN3	23284	broad.mit.edu	37	4	62903516	62903516	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:62903516T>C	ENST00000512091.1	+	23	4202	c.3455T>C	c.(3454-3456)aTt>aCt	p.I1152T	LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514591.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1130					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.I1152N(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGAGTTCCATTGGTTCAGGG	0.403													5	62					0	0	1	0	0	C	62903516	T	C	62903516	3	2	13	1	0	0	0	0	1	0	0	0	8962	1493	52	4	3537	4	LPHN3	4	62903516	Missense_Mutation	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08	5552582	62903516	128250760	9	232											
UNC5A	90249	broad.mit.edu	37	5	176304658	176304658	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr5:176304658G>T	ENST00000329542.4	+	10	1863	c.1589G>T	c.(1588-1590)aGc>aTc	p.S530I	UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	530	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCTGACAGCTGGAGCCTG	0.647													10	25					1.11149e-13	1.20041e-13	1	1	0	T	176304658	G	T	176304658	3	4	13	1	0	0	0	0	1	0	0	0	17051	971	34	5	1627	5	UNC5A	5	176304658	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		176304658	4610602	10	233											
F13A1	2162	broad.mit.edu	37	6	6266931	6266931	+	Missense_Mutation	SNP	C	C	T	rs142954620	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:6266931C>T	ENST00000264870.3	-	4	696	c.431G>A	c.(430-432)cGg>cAg	p.R144Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R144Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGACAGCCGCACAGACCT	0.512													15	50					0	0	1	0	0	T	6266931	C	T	6266931	3	4	13	1	0	0	0	0	1	0	0	0	5368	652	23	2	1815	2	F13A1	6	6266931	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		6266931	164848136	11	234											
PPT2	9374	broad.mit.edu	37	6	32130673	32130673	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:32130673C>T	ENST00000324816.6	+	9	1423	c.855C>T	c.(853-855)gcC>gcT	p.A285A	PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2_ENST00000375137.2_Silent_p.A285A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	285					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CCCACACAGCCTGGCACTCCA	0.547													51	135					0	0	1	0	0	T	32130673	C	T	32130673	2	4	13	1	0	0	0	0	0	0	0	1	12461	668	24	3		3	PPT2	6	32130673	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	25863742	32130673	138984394	12	235											
BZW2	28969	broad.mit.edu	37	7	16734587	16734587	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:16734587G>A	ENST00000433922.2	+	8	958	c.780G>A	c.(778-780)aaG>aaA	p.K260K	BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.K66K|BZW2_ENST00000258761.3_Silent_p.K260K|BZW2_ENST00000405202.1_Silent_p.K184K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	260	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AACTGCAGAAGGAGCTCCAGG	0.522													3	37					0	0	1	0	0	A	16734587	G	A	16734587	2	1	13	1	0	0	0	0	0	0	0	1	1582	991	35	3		3	BZW2	7	16734587	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		16734587	142404076	13	236											
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:77469597A>G	ENST00000416283.2	+	1	151	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318													9	34					0	0	1	0	0	G	77469597	A	G	77469597	3	3	13	1	0	0	0	0	1	0	0	0	11911	449	16	4	27	4	PHTF2	7	77469597	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08	60735010	77469597	81669066	14	237											
PPP1R3B	79660	broad.mit.edu	37	8	8998550	8998550	+	Silent	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:8998550A>G	ENST00000310455.3	-	2	762	c.612T>C	c.(610-612)tcT>tcC	p.S204S	PPP1R3B_ENST00000519699.1_Silent_p.S204S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	204	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TTCTTTCATAAGACTGAATCT	0.483													3	38					0	0	1	0	0	G	8998550	A	G	8998550	2	3	13	1	0	0	0	0	0	0	0	1	12421	59	3	4		4	PPP1R3B	8	8998550	Silent	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		8998550	137365472	15	238											
IPPK	64768	broad.mit.edu	37	9	95418813	95418813	+	Silent	SNP	T	T	C	rs145725375	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:95418813T>C	ENST00000287996.3	-	3	426	c.150A>G	c.(148-150)caA>caG	p.Q50Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	50					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCTGCAGGTGTTGAAATATCT	0.458													32	63					0	0	1	0	0	C	95418813	T	C	95418813	2	2	13	1	0	0	0	0	0	0	0	1	7845	1722	60	4		4	IPPK	9	95418813	Silent	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08		95418813	45794618	16	239											
RABEPK	10244	broad.mit.edu	37	9	127975673	127975673	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:127975673C>T	ENST00000373544.1	+	5	402	c.236C>T	c.(235-237)aCc>aTc	p.T79I	RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373538.3_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	79					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GACTTAGATACCTGCAAGGGC	0.488													6	85					0	0	1	0	0	T	127975673	C	T	127975673	3	4	13	1	0	0	0	0	1	0	0	0	13015	507	18	3	246	3	RABEPK	9	127975673	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	32556860	127975673	13237758	17	240											
NSUN6	221078	broad.mit.edu	37	10	18840857	18840857	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr10:18840857C>T	ENST00000377304.4	-	9	1384	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	322							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGGTGCATCCAGAAGAATTC	0.398													4	48					0	0	1	0	0	T	18840857	C	T	18840857	2	4	13	1	0	0	0	0	0	0	0	1	10730	581	21	3		3	NSUN6	10	18840857	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		18840857	116693890	18	241											
TUB	7275	broad.mit.edu	37	11	8111173	8111173	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:8111173G>A	ENST00000305253.4	+	3	461	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	TUB_ENST00000534099.1_Missense_Mutation_p.G25S|TUB_ENST00000299506.2_Missense_Mutation_p.G19S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	19					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGATGATGAGGGCAGAAACCT	0.602													15	48					0	0	1	0	0	A	8111173	G	A	8111173	3	1	13	1	0	0	0	0	1	0	0	0	16804	1232	43	3	272	3	TUB	11	8111173	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		8111173	126895343	19	242											
MRGPRX3	117195	broad.mit.edu	37	11	18159635	18159635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:18159635C>T	ENST00000396275.2	+	3	1247	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGGGCTCTGCAGGACACGCC	0.552													22	46					0	0	1	0	0	T	18159635	C	T	18159635	4	4	13	1	0	0	0	0	0	1	0	0	9817	711	25	3	888	3	MRGPRX3	11	18159635	Nonsense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	10048462	18159635	116846881	20	243											
SUPT16H	11198	broad.mit.edu	37	14	21825383	21825383	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr14:21825383G>A	ENST00000216297.2	-	22	2971	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433													4	28					0	0	1	0	0	A	21825383	G	A	21825383	3	1	13	1	0	0	0	0	1	0	0	0	15452	942	33	3	530	3	SUPT16H	14	21825383	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		21825383	85524157	21	244											
TMC7	79905	broad.mit.edu	37	16	19056299	19056299	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:19056299C>T	ENST00000421369.3	+	10	1659	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TMC7_ENST00000569532.1_Silent_p.C477C|TMC7_ENST00000304381.5_Silent_p.C477C	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	477						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGACCTTTGCGGCTACAACC	0.562													4	126					0	0	1	0	0	T	19056299	C	T	19056299	2	4	13	1	0	0	0	0	0	0	0	1	16050	776	27	1		1	TMC7	16	19056299	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		19056299	71298454	22	245											
ATP2A1	487	broad.mit.edu	37	16	28909395	28909395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:28909395C>A	ENST00000395503.4	+	13	1678	c.1494C>A	c.(1492-1494)tgC>tgA	p.C498*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.C498*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	498					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTCTATTGCTCCCCAGCCA	0.542													37	74					3.93418e-24	4.33563e-24	1	1	0	A	28909395	C	A	28909395	4	1	13	1	0	0	0	0	0	1	0	0	1135	805	28	5	1544	5	ATP2A1	16	28909395	Nonsense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	9853096	28909395	61445358	23	246											
ZZEF1	23140	broad.mit.edu	37	17	3990757	3990757	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:3990757G>C	ENST00000381638.2	-	14	2437	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	771							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAAAATTCCAGAAGATCTGCA	0.308													15	42					0	0	1	0	0	C	3990757	G	C	3990757	3	2	13	1	0	0	0	0	1	0	0	0	18295	933	33	5	6740	5	ZZEF1	17	3990757	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		3990757	77204453	24	247											
DSC2	1824	broad.mit.edu	37	18	28672206	28672206	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:28672206A>C	ENST00000280904.6	-	3	655	c.212T>G	c.(211-213)tTc>tGc	p.F71C	DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	71					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAAATTTGGAAGTCAGGATC	0.338													5	46					0	0	1	0	0	C	28672206	A	C	28672206	3	2	13	1	0	0	0	0	1	0	0	0	4792	246	9	5	2589	5	DSC2	18	28672206	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		28672206	49405042	25	248											
ZNF407	55628	broad.mit.edu	37	18	72775248	72775248	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:72775248G>A	ENST00000299687.5	+	8	5571	c.5571G>A	c.(5569-5571)gcG>gcA	p.A1857A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGCCAGCGCCGCCCCCTG	0.682													21	55					0	0	1	0	0	A	72775248	G	A	72775248	2	1	13	1	0	0	0	0	0	0	0	1	17944	1074	38	1		1	ZNF407	18	72775248	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	44103042	72775248	5302000	26	249											
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	120					0	0	1	0	0	A	39421234	G	A	39421234	3	1	13	1	0	0	0	0	1	0	0	0	13898	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		39421234	19707749	27	250											
RRBP1	6238	broad.mit.edu	37	20	17614233	17614233	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:17614233G>A	ENST00000377813.1	-	8	2785	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	828					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTCCTGCCGAAGCTTGGCC	0.592													10	30					0	0	1	0	0	A	17614233	G	A	17614233	3	1	13	1	0	0	0	0	1	0	0	0	13730	1057	37	2	1822	2	RRBP1	20	17614233	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		17614233	45411287	28	251											
MAGEB1	4112	broad.mit.edu	37	X	30268674	30268674	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:30268674A>T	ENST00000378981.3	+	4	385	c.64A>T	c.(64-66)Acc>Tcc	p.T22S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	22										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCGAGAGGAGACCCAGGGTCT	0.592													3	10					0	0	1	0	0	T	30268674	A	T	30268674	3	4	13	1	0	0	0	0	1	0	0	0	9222	275	10	5	66	5	MAGEB1	23	30268674	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		30268674	125001886	29	252											
ATRX	546	broad.mit.edu	37	X	76939263	76939263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:76939263delT	ENST00000373344.5	-	9	1699	c.1485delA	c.(1483-1485)aafs	p.K495fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	495					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTATCAGATTTCTTATGTT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						114	172	---	---	---	---						-	76939263	T	-	76939263	7	5	13	1	0	1	0	1	0	0	0	0	1206	1490	52	0	6101	0	ATRX	23	76939263	Frame_Shift_Del	DEL	T	TCGA-QR-A6GT-01A-11D-A35D-08	46670589	76939263	78331297	30	253											
XPNPEP2	7512	broad.mit.edu	37	X	128887218	128887218	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:128887218C>T	ENST00000371106.3	+	11	1293	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	367					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCCTCAAGGCCAGCCACGTAA	0.547													30	30					0	0	1	0	0	T	128887218	C	T	128887218	2	4	13	1	0	0	0	0	0	0	0	1	17503	581	21	3		3	XPNPEP2	23	128887218	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	51947955	128887218	26383342	31	254											
FAM122C	159091	broad.mit.edu	37	X	133948879	133948879	+	Translation_Start_Site	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:133948879G>A	ENST00000445123.1	+	0	353				FAM122C_ENST00000370784.4_Splice_Site_p.L63_splice|FAM122C_ENST00000414371.2_Splice_Site_p.L99_splice|FAM122C_ENST00000370785.3_Splice_Site_p.L63_splice			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GACGCTCTCTGGTAAGGAAAT	0.383													39	35					0	0	1	0	0	A	133948879	G	A	133948879	1	1	13	1	0	0	0	0	0	0	0	0	5452	1362	47	3		3	FAM122C	23	133948879	Translation_Start_Site	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	5061661	133948879	21321681	32	255											
TMEM53	79639	broad.mit.edu	37	1	45120685	45120685	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:45120685A>T	ENST00000372237.3	-	3	543	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	127						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACGGGTCTGCAGGAGCTCCAG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0	0	1	0	0	T	45120685	A	T	45120685	3	4	14	1	0	0	0	0	1	0	0	0	16239	188	7	5	457	5	TMEM53	1	45120685	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		45120685	204129936	1	256											
SIPA1L2	57568	broad.mit.edu	37	1	232600987	232600987	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:232600987C>G	ENST00000366630.1	-	8	2777	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	807	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCAAGTACTCCTGCCTCGTT	0.478													6	167					0	0	1	0	0	G	232600987	C	G	232600987	3	3	14	1	0	0	0	0	1	0	0	0	14385	864	30	5	2809	5	SIPA1L2	1	232600987	Missense_Mutation	SNP	C	TCGA-QR-A6GU-01A-11D-A35D-08	187480302	232600987	16649634	2	257											
CHRM3	1131	broad.mit.edu	37	1	240072244	240072244	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:240072244T>G	ENST00000255380.4	+	5	2272	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	498					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GCGATCTTGCTTGCCTTCATC	0.493													34	80					0	0	1	0	0	G	240072244	T	G	240072244	3	3	14	1	0	0	0	0	1	0	0	0	3400	1609	56	5	1495	5	CHRM3	1	240072244	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08	7471257	240072244	9178377	3	258											
DTNB	1838	broad.mit.edu	37	2	25705699	25705699	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:25705699G>A	ENST00000406818.3	-	10	1294	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y|DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	349						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGACATGTGGCTAACCATG	0.483													3	59					0	0	1	0	0	A	25705699	G	A	25705699	3	1	14	1	0	0	0	0	1	0	0	0	4815	1348	47	3	882	3	DTNB	2	25705699	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		25705699	217493674	4	259											
DNAJC5G	285126	broad.mit.edu	37	2	27500634	27500634	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:27500634G>T	ENST00000296097.3	+	4	544	c.126G>T	c.(124-126)ttG>ttT	p.L42F	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	42	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCGCATTGCTTCCCCACC	0.488													26	106					6.04164e-23	6.8366e-23	1	1	0	T	27500634	G	T	27500634	3	4	14	1	0	0	0	0	1	0	0	0	4679	1310	46	5	132	5	DNAJC5G	2	27500634	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	1794935	27500634	215698739	5	260											
NAGK	55577	broad.mit.edu	37	2	71305537	71305537	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:71305537G>T	ENST00000418807.3	+	9	945	c.781G>T	c.(781-783)Gct>Tct	p.A261S	NAGK_ENST00000244204.5_Missense_Mutation_p.A312S|NAGK_ENST00000455662.2_Missense_Mutation_p.A358S			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	312					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCACTCCTCCGCTCTGGGTGG	0.582													6	28					0.00198382	0.00203105	1	1	0	T	71305537	G	T	71305537	3	4	14	1	0	0	0	0	1	0	0	0	10190	1087	38	5	1110	5	NAGK	2	71305537	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	43804903	71305537	171893836	6	261	3	2									
NAGK	55577	broad.mit.edu	37	2	71305538	71305538	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:71305538C>T	ENST00000418807.3	+	9	946	c.782C>T	c.(781-783)gCt>gTt	p.A261V	NAGK_ENST00000244204.5_Missense_Mutation_p.A312V|NAGK_ENST00000455662.2_Missense_Mutation_p.A358V			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	312					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CACTCCTCCGCTCTGGGTGGG	0.582													5	29					0	0	1	0	0	T	71305538	C	T	71305538	3	4	14	1	0	0	0	0	1	0	0	0	10190	797	28	3	1111	3	NAGK	2	71305538	Missense_Mutation	SNP	C	TCGA-QR-A6GU-01A-11D-A35D-08	1	71305538	171893835	7	262	3	2									
IL18RAP	8807	broad.mit.edu	37	2	103040356	103040356	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:103040356G>T	ENST00000264260.2	+	4	745	c.156G>T	c.(154-156)caG>caT	p.Q52H	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	52					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGAGCCACAGAAATCACATT	0.408													7	53					5.18039e-06	5.56892e-06	1	1	0	T	103040356	G	T	103040356	3	4	14	1	0	0	0	0	1	0	0	0	7692	933	33	5	162	5	IL18RAP	2	103040356	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	31734818	103040356	140159017	8	263											
ZEB2	9839	broad.mit.edu	37	2	145157124	145157124	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:145157124T>C	ENST00000558170.2	-	8	2814	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A|ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A|ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	544						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTCAGTAGTCAAGCTCTGG	0.388													17	85					0	0	1	0	0	C	145157124	T	C	145157124	3	2	14	1	0	0	0	0	1	0	0	0	17682	1667	58	4	2026	4	ZEB2	2	145157124	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08	42116768	145157124	98042249	9	264											
GAK	2580	broad.mit.edu	37	4	843541	843541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr4:843541G>A	ENST00000314167.4	-	28	3966	c.3856C>T	c.(3856-3858)Cag>Tag	p.Q1286*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207*|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1286	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTGGCGTGCTGCTCGTACGGC	0.677													4	45					0	0	1	0	0	A	843541	G	A	843541	4	1	14	1	0	0	0	0	0	1	0	0	6235	1328	46	3	83	3	GAK	4	843541	Nonsense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		843541	190310735	10	265											
SLC1A3	6507	broad.mit.edu	37	5	36629602	36629602	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr5:36629602G>T	ENST00000265113.4	+	3	708	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	78					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CTACCGGGAAGTCAAGTACTT	0.398													13	117					4.3838e-07	4.83342e-07	1	1	0	T	36629602	G	T	36629602	3	4	14	1	0	0	0	0	1	0	0	0	14488	1029	36	5	255	5	SLC1A3	5	36629602	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		36629602	144285658	11	266											
CDK19	23097	broad.mit.edu	37	6	110942543	110942543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:110942543G>A	ENST00000368911.3	-	12	1320	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	381	Gln-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTGTGGGCTGCTGATGCTGG	0.542													15	205					0	0	1	0	0	A	110942543	G	A	110942543	4	1	14	1	0	0	0	0	0	1	0	0	3157	1328	46	3	375	3	CDK19	6	110942543	Nonsense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		110942543	60172524	12	267											
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	335	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AACCTGTGCCGCCATGTCTAC	0.418													4	81					0	0	1	0	0	A	116265543	G	A	116265543	3	1	14	1	0	0	0	0	1	0	0	0	6083	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	5323000	116265543	54849524	13	268											
SLC26A3	1811	broad.mit.edu	37	7	107432375	107432375	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:107432375A>T	ENST00000340010.5	-	4	466	c.282T>A	c.(280-282)ttT>ttA	p.F94L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	94					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGCAGAGCAAATGCTAAAC	0.443													7	54					0	0	1	0	0	T	107432375	A	T	107432375	3	4	14	1	0	0	0	0	1	0	0	0	14573	127	5	5	2084	5	SLC26A3	7	107432375	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		107432375	51706288	14	269											
SSPO	23145	broad.mit.edu	37	7	149505750	149505751	+	RNA	DEL	CT	CT	-			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:149505750_149505751delCT	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGTGAGAGCTGGGACTGAGG	0.594													2	4	---	---	---	---						-	149505751	CT	-	149505750	6	5	14	0	1	1	0	1	0	0	0	0	15245	812	28	0		0	SSPO	7	149505750	RNA	DEL	CT	TCGA-QR-A6GU-01A-11D-A35D-08	42073375	149505750	9632913	15	270											
C9orf84	158401	broad.mit.edu	37	9	114484733	114484733	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr9:114484733A>G	ENST00000394779.3	-	11	2022	c.1778T>C	c.(1777-1779)cTc>cCc	p.L593P	C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000318737.4_Missense_Mutation_p.L632P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	632										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCCTTTAAGAGAAACCTTGT	0.348													20	75					0	0	1	0	0	G	114484733	A	G	114484733	3	3	14	1	0	0	0	0	1	0	0	0	2518	304	11	4	2495	4	C9orf84	9	114484733	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		114484733	26728698	16	271											
NAALADL1	10004	broad.mit.edu	37	11	64822094	64822094	+	Silent	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr11:64822094G>T	ENST00000358658.3	-	5	747	c.720C>A	c.(718-720)ccC>ccA	p.P240P	NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P|NAALADL1_ENST00000339885.2_Silent_p.P240P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	240					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTCCTGAGGGGGGCAGGTACC	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	3	13					0.004672	0.004672	1	1	0	T	64822094	G	T	64822094	2	4	14	1	0	0	0	0	0	0	0	1	10177	1219	43	5		5	NAALADL1	11	64822094	Silent	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		64822094	70184422	17	272											
NRXN3	9369	broad.mit.edu	37	14	79175617	79175617	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr14:79175617G>A	ENST00000554719.1	+	4	651	c.160G>A	c.(160-162)Gac>Aac	p.D54N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCGGATTGCGGACACCAAGAT	0.463													5	92					0	0	1	0	0	A	79175617	G	A	79175617	3	1	14	1	0	0	0	0	1	0	0	0	10715	1174	41	3	166	3	NRXN3	14	79175617	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		79175617	28173923	18	273											
MEF2A	0	broad.mit.edu	37	15	100211551	100211551	+	Missense_Mutation	SNP	T	T	A	rs1135555		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr15:100211551T>A	ENST00000338042.6	+	4	601	c.282T>A	c.(280-282)aaT>aaA	p.N94K	MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K|MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.N94K			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	94					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGGCCTTAATGGTTGTGAGA	0.353													32	122					0	0	1	0	0	A	100211551	T	A	100211551	3	1	14	1	0	0	0	0	1	0	0	0	9505	1461	51	5	292	5	MEF2A	15	100211551	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08		100211551	2319841	19	274											
CPNE2	221184	broad.mit.edu	37	16	57155597	57155597	+	Silent	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr16:57155597G>A	ENST00000535318.2	+	10	1153	c.792G>A	c.(790-792)gaG>gaA	p.E264E	CPNE2_ENST00000537605.1_Silent_p.E162E|CPNE2_ENST00000565874.1_Silent_p.E264E|CPNE2_ENST00000290776.8_Silent_p.E264E			Q96FN4	CPNE2_HUMAN	copine II	264										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGGAGTTCGAGTGCATCAACC	0.527													21	125					0	0	1	0	0	A	57155597	G	A	57155597	2	1	14	1	0	0	0	0	0	0	0	1	3835	1020	36	3		3	CPNE2	16	57155597	Silent	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		57155597	33199156	20	275											
TBX2	6909	broad.mit.edu	37	17	59477559	59477559	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr17:59477559G>C	ENST00000240328.3	+	1	303	c.22G>C	c.(22-24)Gcc>Ccc	p.A8P	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	8					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GGCGCTGGCGGCCAGCGCCAT	0.796													6	29					0	0	1	0	0	C	59477559	G	C	59477559	3	2	14	1	0	0	0	0	1	0	0	0	15715	1203	42	5	24	5	TBX2	17	59477559	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		59477559	21717651	21	276											
LAMA3	3909	broad.mit.edu	37	18	21329485	21329485	+	Missense_Mutation	SNP	G	G	A	rs150204820	by1000genomes	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr18:21329485G>A	ENST00000313654.9	+	4	900	c.659G>A	c.(658-660)cGt>cAt	p.R220H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	220	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R220H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAATATTCCCGTATTGTACCT	0.393													7	37					0	0	1	0	0	A	21329485	G	A	21329485	3	1	14	1	0	0	0	0	1	0	0	0	8646	1145	40	1	673	1	LAMA3	18	21329485	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		21329485	56747763	22	277											
PPAN-P2RY11	0	broad.mit.edu	37	19	10220329	10220329	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:10220329G>A	ENST00000428358.1	+	6	708	c.536G>A	c.(535-537)cGc>cAc	p.R179H	PPAN_ENST00000556468.1_Missense_Mutation_p.R179H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN_ENST00000253107.7_Missense_Mutation_p.R179H	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		179	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			ACCATCAAGCGCTGCCTCCTC	0.597													5	328					0	0	1	0	0	A	10220329	G	A	10220329	3	1	14	1	0	0	0	0	1	0	0	0	12334	1087	38	1	558	1	PPAN-P2RY11	19	10220329	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		10220329	48908654	23	278											
ZSWIM4	65249	broad.mit.edu	37	19	13910696	13910696	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:13910696C>G	ENST00000254323.2	+	2	505	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	106							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGGGCTGCACCTGCTCCAGAG	0.642													5	52					0	0	1	0	0	G	13910696	C	G	13910696	3	3	14	1	0	0	0	0	1	0	0	0	18283	680	24	5	322	5	ZSWIM4	19	13910696	Missense_Mutation	SNP	C	TCGA-QR-A6GU-01A-11D-A35D-08	3690367	13910696	45218287	24	279											
CDC42BPA	8476	broad.mit.edu	37	1	227333333	227333333	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr1:227333333T>C	ENST00000366769.3	-	8	2291	c.1000A>G	c.(1000-1002)Ata>Gta	p.I334V	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	334	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGTCTTCTATTCCATTTTGA	0.393													58	89					0	0	1	0	0	C	227333333	T	C	227333333	3	2	15	1	0	0	0	0	1	0	0	0	3094	1493	52	4	4275	4	CDC42BPA	1	227333333	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		227333333	21917288	1	280											
THUMPD2	80745	broad.mit.edu	37	2	39997221	39997221	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:39997221C>A	ENST00000505747.1	-	3	328	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289													6	57					3.59834e-05	4.02167e-05	1	1	0	A	39997221	C	A	39997221	3	1	15	1	0	0	0	0	1	0	0	0	15943	913	32	5	1242	5	THUMPD2	2	39997221	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08		39997221	203202152	2	281											
RANBP2	5903	broad.mit.edu	37	2	109384207	109384207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:109384207G>A	ENST00000283195.6	+	20	7338	c.7212G>A	c.(7210-7212)tgG>tgA	p.W2404*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2404	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATGGTTGTGGACTGCATGTG	0.368													50	831					0	0	1	0	0	A	109384207	G	A	109384207	4	1	15	1	0	0	0	0	0	1	0	0	13080	1183	41	3	7290	3	RANBP2	2	109384207	Nonsense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	69386986	109384207	133815166	3	282											
GOLGA4	2803	broad.mit.edu	37	3	37366507	37366507	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr3:37366507A>T	ENST00000361924.2	+	14	3504	c.3130A>T	c.(3130-3132)Ata>Tta	p.I1044L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1044	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAATGATGTCATATCAATCTG	0.378													21	15					0	0	1	0	0	T	37366507	A	T	37366507	3	4	15	1	0	0	0	0	1	0	0	0	6597	217	8	5	3254	5	GOLGA4	3	37366507	Missense_Mutation	SNP	A	TCGA-QR-A6GW-01A-11D-A35D-08		37366507	160655923	4	283											
MLLT3	4300	broad.mit.edu	37	9	20414331	20414331	+	Silent	SNP	G	G	A	rs10964556		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:20414331G>A	ENST00000380338.4	-	5	799	c.513C>T	c.(511-513)agC>agT	p.S171S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	171	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		tgctgctgctgctgctgctgc	0.537			T	MLL	ALL								5	71					0	0	1	0	0	A	20414331	G	A	20414331	2	1	15	1	0	0	0	0	0	0	0	1	9676	1310	46	3		3	MLLT3	9	20414331	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		20414331	120799100	5	284											
RNF20	56254	broad.mit.edu	37	9	104307131	104307133	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:104307131_104307133delTCT	ENST00000389120.3	+	6	801_803	c.711_713delTCT	c.(709-714)gat>ga	p.DL237del		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	237					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTGACAGATCTTCTTCAGGAA	0.458													54	93	---	---	---	---						-	104307133	TCT	-	104307131	7	5	15	1	0	1	0	1	0	0	0	0	13525	1432	50	0	729	0	RNF20	9	104307131	In_Frame_Del	DEL	TCT	TCGA-QR-A6GW-01A-11D-A35D-08	83892800	104307131	36906300	6	285											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			52	58					0	0	1	0	0	C	533874	T	C	533874	3	2	15	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		533874	134472642	7	286											
CUX2	23316	broad.mit.edu	37	12	111729283	111729283	+	Silent	SNP	T	T	C			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr12:111729283T>C	ENST00000261726.6	+	5	517	c.363T>C	c.(361-363)ttT>ttC	p.F121F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCCAGCTTTGACCCCAGTG	0.627													4	75					0	0	1	0	0	C	111729283	T	C	111729283	2	2	15	1	0	0	0	0	0	0	0	1	4088	1809	63	4		4	CUX2	12	111729283	Silent	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		111729283	22122612	8	287											
LATS2	26524	broad.mit.edu	37	13	21555612	21555612	+	Silent	SNP	G	G	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr13:21555612G>T	ENST00000382592.4	-	6	3063	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L	LATS2_ENST00000542899.1_Silent_p.L886L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	886	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TACCTTTGCGGAGGAGCACCT	0.607													13	28					7.07596e-05	7.68247e-05	1	1	0	T	21555612	G	T	21555612	2	4	15	1	0	0	0	0	0	0	0	1	8686	1161	41	5		5	LATS2	13	21555612	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		21555612	93614266	9	288											
BCL2L2	599	broad.mit.edu	37	14	23778132	23778132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr14:23778132delG	ENST00000250405.5	+	4	769	c.540delG	c.(538-540)ctfs	p.L180fs	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTGGCACTGGGGGCCCTGG	0.652													16	74	---	---	---	---						-	23778132	G	-	23778132	7	5	15	1	0	1	0	1	0	0	0	0	1372	1335	47	0	546	0	BCL2L2	14	23778132	Frame_Shift_Del	DEL	G	TCGA-QR-A6GW-01A-11D-A35D-08		23778132	83571408	10	289											
TMEM208	29100	broad.mit.edu	37	16	67262480	67262480	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:67262480A>G	ENST00000563953.1	+	4	461	c.35A>G	c.(34-36)gAt>gGt	p.D12G	TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000304800.9_Missense_Mutation_p.D82G			Q9BTX3	TM208_HUMAN	transmembrane protein 208	82						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTCTCTGAGGATGGGGCCCTG	0.622													15	14					0	0	1	0	0	G	67262480	A	G	67262480	3	3	15	1	0	0	0	0	1	0	0	0	16193	333	12	4	259	4	TMEM208	16	67262480	Missense_Mutation	SNP	A	TCGA-QR-A6GW-01A-11D-A35D-08		67262480	23092273	11	290											
ADAMTS18	170692	broad.mit.edu	37	16	77331217	77331217	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:77331217T>G	ENST00000282849.5	-	18	3188	c.2770A>C	c.(2770-2772)Aaa>Caa	p.K924Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	924					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCAGATTTTGGGCTCAGTT	0.398													4	97					0	0	1	0	0	G	77331217	T	G	77331217	3	3	15	1	0	0	0	0	1	0	0	0	262	1821	63	5	919	5	ADAMTS18	16	77331217	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08	10068737	77331217	13023536	12	291											
ZNF516	9658	broad.mit.edu	37	18	74091638	74091638	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr18:74091638G>A	ENST00000443185.2	-	4	2749	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCCGCTCCGGGAAAGGAAAAC	0.612													29	30					0	0	1	0	0	A	74091638	G	A	74091638	3	1	15	1	0	0	0	0	1	0	0	0	18017	1174	41	3	1076	3	ZNF516	18	74091638	Missense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		74091638	3985610	13	292											
MUC16	94025	broad.mit.edu	37	19	9076861	9076861	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:9076861C>T	ENST00000397910.4	-	3	10788	c.10585G>A	c.(10585-10587)Gac>Aac	p.D3529N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3530	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTACGTCCAGGATGCTC	0.517													46	173					0	0	1	0	0	T	9076861	C	T	9076861	3	4	15	1	0	0	0	0	1	0	0	0	10021	855	30	3	33266	3	MUC16	19	9076861	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08		9076861	50052122	14	293											
ZNF613	79898	broad.mit.edu	37	19	52448551	52448551	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:52448551T>G	ENST00000293471.6	+	6	2094	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGGTCTCATTAACCACCAG	0.423													40	53					0	0	1	0	0	G	52448551	T	G	52448551	3	3	15	1	0	0	0	0	1	0	0	0	18095	1493	52	5	1429	5	ZNF613	19	52448551	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08	43371690	52448551	6680432	15	294											
BCAS1	8537	broad.mit.edu	37	20	52558052	52558052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr20:52558052delT	ENST00000371440.3	-	12	2127	c.1790delA	c.(1789-1791)agfs	p.K597fs	AC005220.3_ENST00000450473.1_RNA			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	0						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAAGACACACTTCCCTGTGTA	0.403													2	4	---	---	---	---						-	52558052	T	-	52558052	7	5	15	1	0	1	0	1	0	0	0	0	1348	1624	56	0		0	BCAS1	20	52558052	Frame_Shift_Del	DEL	T	TCGA-QR-A6GW-01A-11D-A35D-08		52558052	10467468	16	295											
FRMPD4	9758	broad.mit.edu	37	X	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	rs148666498		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:12712508G>A	ENST00000380682.1	+	9	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413													30	83					0	0	1	0	0	A	12712508	G	A	12712508	3	1	15	1	0	0	0	0	1	0	0	0	6094	1145	40	1	902	1	FRMPD4	23	12712508	Missense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		12712508	142558052	17	296											
PHKA2	5256	broad.mit.edu	37	X	18915370	18915370	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:18915370C>T	ENST00000379942.4	-	30	3858	c.3193G>A	c.(3193-3195)Ggc>Agc	p.G1065S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1065	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCACTGGCCCTGCCGCTCA	0.622													6	122					0	0	1	0	0	T	18915370	C	T	18915370	3	4	15	1	0	0	0	0	1	0	0	0	11892	623	22	3	530	3	PHKA2	23	18915370	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08	6202862	18915370	136355190	18	297											
CACNA1F	778	broad.mit.edu	37	X	49071913	49071913	+	Silent	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:49071913G>A	ENST00000376265.2	-	28	3421	c.3360C>T	c.(3358-3360)taC>taT	p.Y1120Y	CACNA1F_ENST00000376251.1_Silent_p.Y1055Y|CACNA1F_ENST00000323022.5_Silent_p.Y1109Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1120	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGATGATGATGTAGACAATGA	0.493													16	22					0	0	1	0	0	A	49071913	G	A	49071913	2	1	15	1	0	0	0	0	0	0	0	1	2561	1372	48	3		3	CACNA1F	23	49071913	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	30156543	49071913	106198647	19	298											
ZNF275	10838	broad.mit.edu	37	X	152613127	152613127	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:152613127G>T	ENST00000421401.3	+	4	1161	c.984G>T	c.(982-984)aaG>aaT	p.K328N	ZNF275_ENST00000440091.1_Missense_Mutation_p.K358N|ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_Missense_Mutation_p.K275N	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	244						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCGGCAAGGCCTTCCGCC	0.692													7	39					0.000274275	0.000281688	1	1	0	T	152613127	G	T	152613127	3	4	15	1	0	0	0	0	1	0	0	0	17868	1015	35	5		5	ZNF275	23	152613127	Missense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	103541214	152613127	2657433	20	299											
MTOR	2475	broad.mit.edu	37	1	11169377	11169377	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:11169377T>A	ENST00000361445.4	-	56	7574	c.7498A>T	c.(7498-7500)Att>Ttt	p.I2500F	MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2500	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTGTTAATAATCTGGATAGCT	0.408													16	52					0	0	1	0	0	A	11169377	T	A	11169377	3	1	16	1	0	0	0	0	1	0	0	0	10002	1435	50	5	163	5	MTOR	1	11169377	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		11169377	238081244	1	300											
HSPG2	3339	broad.mit.edu	37	1	22199255	22199255	+	Splice_Site	DEL	T	T	-			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:22199255delT	ENST00000374695.3	-	32	3968		c.e32-2			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACCTGGGCCTGGGTAGACGG	0.682													2	4	---	---	---	---						-	22199255	T	-	22199255	8	5	16	1	0	1	0	1	0	0	1	0	7474	1594	55	0	9552	0	HSPG2	1	22199255	Splice_Site	DEL	T	TCGA-QR-A6GX-01A-11D-A35D-08	11029878	22199255	227051366	2	301											
FER1L5	90342	broad.mit.edu	37	2	97361186	97361186	+	RNA	DEL	G	G	-			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr2:97361186delG	ENST00000457909.1	+	0	3185							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTCTGGCCAGGACCCCATTA	0.632													2	4	---	---	---	---						-	97361186	G	-	97361186	6	5	16	0	1	1	0	1	0	0	0	0	5847	1015	35	0		0	FER1L5	2	97361186	RNA	DEL	G	TCGA-QR-A6GX-01A-11D-A35D-08		97361186	145838187	3	302											
FAM194A	131831	broad.mit.edu	37	3	150377880	150377880	+	Silent	SNP	C	C	T			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:150377880C>T	ENST00000295910.6	-	14	1843	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	FAM194A_ENST00000491361.1_Silent_p.L451L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	597										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTAAACTGGCCAGCAGAAGAA	0.438													22	66					0	0	1	0	0	T	150377880	C	T	150377880	2	4	16	1	0	0	0	0	0	0	0	1	5558	581	21	3		3	FAM194A	3	150377880	Silent	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		150377880	47644550	4	303											
SMC4	10051	broad.mit.edu	37	3	160142806	160142806	+	Splice_Site	SNP	A	A	G			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:160142806A>G	ENST00000357388.3	+	16	2928	c.2478_splice	c.e16+1	p.Q826_splice	SMC4_ENST00000462787.1_Splice_Site_p.Q826_splice|SMC4_ENST00000344722.5_Splice_Site_p.Q826_splice|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Splice_Site_p.Q801_splice|SMC4_ENST00000360111.2_Splice_Site_p.Q826_splice	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	826					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAAGCATCCAGgtatgtgtg	0.363													3	16					0	0	1	0	0	G	160142806	A	G	160142806	5	3	16	1	0	0	0	0	0	0	1	0	14839	202	7	4	2535	4	SMC4	3	160142806	Splice_Site	SNP	A	TCGA-QR-A6GX-01A-11D-A35D-08	9764926	160142806	37879624	5	304											
AFAP1L1	134265	broad.mit.edu	37	5	148679174	148679174	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr5:148679174T>C	ENST00000296721.4	+	2	217	c.119T>C	c.(118-120)aTc>aCc	p.I40T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	40							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTCCATCCTGCAGAGC	0.602													6	42					0	0	1	0	0	C	148679174	T	C	148679174	3	2	16	1	0	0	0	0	1	0	0	0	353	1435	50	4	125	4	AFAP1L1	5	148679174	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		148679174	32236086	6	305											
GMPR	2766	broad.mit.edu	37	6	16274725	16274725	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr6:16274725C>T	ENST00000259727.4	+	5	659	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	182					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GGAGTTGGACCAGGTAAGACT	0.512													7	39					0	0	1	0	0	T	16274725	C	T	16274725	3	4	16	1	0	0	0	0	1	0	0	0	6538	594	21	3	563	3	GMPR	6	16274725	Missense_Mutation	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		16274725	154840342	7	306											
ABCB5	340273	broad.mit.edu	37	7	20698192	20698192	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:20698192G>A	ENST00000404938.2	+	14	2252	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T|ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T|ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	89	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGAGGATCGCAATTGCTCG	0.433													10	34					0	0	1	0	0	A	20698192	G	A	20698192	3	1	16	1	0	0	0	0	1	0	0	0	44	1087	38	1	1650	1	ABCB5	7	20698192	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		20698192	138440471	8	307											
SAMD9L	219285	broad.mit.edu	37	7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:92763379G>A	ENST00000318238.4	-	5	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398													4	121					0	0	1	0	0	A	92763379	G	A	92763379	3	1	16	1	0	0	0	0	1	0	0	0	13879	1203	42	3	2852	3	SAMD9L	7	92763379	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08	72065187	92763379	66375284	9	308											
LLPH	84298	broad.mit.edu	37	12	66517700	66517700	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr12:66517700T>C	ENST00000266604.2	-	3	380	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.R104G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	104	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTTCAGCCTTTTTCTTTGC	0.408													5	135					0	0	1	0	0	C	66517700	T	C	66517700	3	2	16	1	0	0	0	0	1	0	0	0	8876	1608	56	4	83	4	LLPH	12	66517700	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		66517700	67334195	10	309											
ZNF319	0	broad.mit.edu	37	16	58032116	58032116	+	Silent	SNP	T	T	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:58032116T>A	ENST00000299237.2	-	2	676	c.54A>T	c.(52-54)ccA>ccT	p.P18P		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	18	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GAGGCTGCGGTGGCTGTGGCT	0.637													11	44					0	0	1	0	0	A	58032116	T	A	58032116	2	1	16	1	0	0	0	0	0	0	0	1	17894	1683	59	5		5	ZNF319	16	58032116	Silent	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		58032116	32322637	11	310											
DPEP1	1800	broad.mit.edu	37	16	89702399	89702399	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:89702399G>A	ENST00000393092.3	+	3	479	c.188G>A	c.(187-189)gGc>gAc	p.G63D	DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D|DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	63					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCTTGGCCGGCACACACACC	0.637													3	19					0	0	1	0	0	A	89702399	G	A	89702399	3	1	16	1	0	0	0	0	1	0	0	0	4740	1203	42	3	194	3	DPEP1	16	89702399	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08	31670283	89702399	652354	12	311											
GAS2L2	246176	broad.mit.edu	37	17	34072885	34072885	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:34072885T>C	ENST00000254466.6	-	6	1658	c.1631A>G	c.(1630-1632)gAc>gGc	p.D544G	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	544					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGCCAGGTCCACAGTGAC	0.617													3	27					0	0	1	0	0	C	34072885	T	C	34072885	3	2	16	1	0	0	0	0	1	0	0	0	6287	1667	58	4	1015	4	GAS2L2	17	34072885	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		34072885	47122325	13	312											
BZRAP1	9256	broad.mit.edu	37	17	56386005	56386005	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:56386005T>C	ENST00000355701.3	-	22	5498	c.4628A>G	c.(4627-4629)aAt>aGt	p.N1543S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1543						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCCTGAATTGGCCTTCGG	0.677													8	14					0	0	1	0	0	C	56386005	T	C	56386005	3	2	16	1	0	0	0	0	1	0	0	0	1580	1493	52	4	985	4	BZRAP1	17	56386005	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08	22313120	56386005	24809205	14	313											
MYOM1	8736	broad.mit.edu	37	18	3188963	3188963	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr18:3188963G>A	ENST00000356443.4	-	4	887	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	185	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			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						CTTGGATGCCGTGGACTGTTT	0.507													4	73					0	0	1	0	0	A	3188963	G	A	3188963	3	1	16	1	0	0	0	0	1	0	0	0	10139	1145	40	1	4643	1	MYOM1	18	3188963	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		3188963	74888285	15	314											
COL5A3	50509	broad.mit.edu	37	19	10089840	10089840	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr19:10089840G>A	ENST00000264828.3	-	39	2927	c.2842C>T	c.(2842-2844)Ctt>Ttt	p.L948F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	948	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCCAGGAAGACCTTGTTCA	0.567													8	36					0	0	1	0	0	A	10089840	G	A	10089840	3	1	16	1	0	0	0	0	1	0	0	0	3721	942	33	3	2511	3	COL5A3	19	10089840	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		10089840	49039143	16	315											
BCOR	54880	broad.mit.edu	37	X	39911406	39911406	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chrX:39911406C>G	ENST00000342274.4	-	15	5484	c.5122G>C	c.(5122-5124)Gag>Cag	p.E1708Q	BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q|BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000378444.4_Missense_Mutation_p.E1742Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1742					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGAGCCACTCTACAGAGGAG	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	26					0	0	1	0	0	G	39911406	C	G	39911406	3	3	16	1	0	0	0	0	1	0	0	0	1384	922	32	5	47	5	BCOR	23	39911406	Missense_Mutation	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		39911406	115359154	17	316											
FLG	2312	broad.mit.edu	37	1	152279816	152279816	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:152279816G>C	ENST00000368799.1	-	3	7581	c.7546C>G	c.(7546-7548)Caa>Gaa	p.Q2516E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2516	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTTGCA	0.567									Ichthyosis				5	468					0	0	1	0	0	C	152279816	G	C	152279816	3	2	17	1	0	0	0	0	1	0	0	0	5955	1386	48	5	4643	5	FLG	1	152279816	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		152279816	96970805	1	317											
ATP8A1	10396	broad.mit.edu	37	4	42629113	42629113	+	Silent	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:42629113T>A	ENST00000381668.5	-	2	294	c.63A>T	c.(61-63)acA>acT	p.T21T	ATP8A1_ENST00000510289.1_Silent_p.T21T|ATP8A1_ENST00000264449.10_Silent_p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	21					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAACATCATCTGTCTTCTCAT	0.368													3	33					0	0	1	0	0	A	42629113	T	A	42629113	2	1	17	1	0	0	0	0	0	0	0	1	1190	1567	55	5		5	ATP8A1	4	42629113	Silent	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		42629113	148525163	2	318											
FAT1	2195	broad.mit.edu	37	4	187630130	187630130	+	Silent	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:187630130A>G	ENST00000441802.2	-	2	1061	c.852T>C	c.(850-852)ggT>ggC	p.G284G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	284					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						CACCATTGGCACCCTGATCGC	0.483										HNSCC(5;0.00058)			9	263					0	0	1	0	0	G	187630130	A	G	187630130	2	3	17	1	0	0	0	0	0	0	0	1	5722	146	6	4		4	FAT1	4	187630130	Silent	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	145001017	187630130	3524146	3	319											
VCAN	1462	broad.mit.edu	37	5	82835161	82835163	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:82835161_82835163delAAC	ENST00000265077.3	+	8	6904_6906	c.6339_6341delAAC	c.(6337-6342)gaa>ga	p.ET2113del	VCAN_ENST00000343200.5_In_Frame_Del_p.ET1126del|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2113	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGAAAGTGAAACAACATCAGAG	0.379													20	56	---	---	---	---						-	82835163	AAC	-	82835161	7	5	17	1	0	1	0	1	0	0	0	0	17198	11	1	0	6365	0	VCAN	5	82835161	In_Frame_Del	DEL	AAC	TCGA-QR-A6GY-01A-11D-A35D-08		82835161	98080099	4	320											
SLC26A2	1836	broad.mit.edu	37	5	149360408	149360408	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:149360408A>G	ENST00000286298.4	+	3	1520	c.1252A>G	c.(1252-1254)Atg>Gtg	p.M418V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	418						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACCAGGAAATGTATGCCAT	0.388													5	83					0	0	1	0	0	G	149360408	A	G	149360408	3	3	17	1	0	0	0	0	1	0	0	0	14572	101	4	4	1258	4	SLC26A2	5	149360408	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	66525247	149360408	31554852	5	321											
AQP7	364	broad.mit.edu	37	9	33395149	33395149	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:33395149T>C	ENST00000539936.1	-	3	309	c.71A>G	c.(70-72)aAg>aGg	p.K24R	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	24					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)		TTCCTGGATCTTTGCTATCAC	0.557													3	35					0	0	1	0	0	C	33395149	T	C	33395149	3	2	17	1	0	0	0	0	1	0	0	0	828	1609	56	4	981	4	AQP7	9	33395149	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		33395149	107818282	6	322											
OR51V1	283111	broad.mit.edu	37	11	5221718	5221718	+	Silent	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:5221718G>A	ENST00000321255.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGTAAAACA	0.527													27	46					0	0	1	0	0	A	5221718	G	A	5221718	2	1	17	1	0	0	0	0	0	0	0	1	11155	1165	41	3		3	OR51V1	11	5221718	Silent	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		5221718	129784798	7	323											
ANO3	63982	broad.mit.edu	37	11	26529704	26529704	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:26529704G>C	ENST00000256737.3	+	5	1338	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	162				K -> R (in Ref. 1; CAC32454).		chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGCAAAAAGAGAATTGATT	0.348													19	22					0	0	1	0	0	C	26529704	G	C	26529704	3	2	17	1	0	0	0	0	1	0	0	0	692	933	33	5	504	5	ANO3	11	26529704	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08	21307986	26529704	108476812	8	324											
AP4E1	23431	broad.mit.edu	37	15	51285806	51285806	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr15:51285806A>G	ENST00000261842.5	+	17	2436	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	777					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTAGGATCAGAAAGTACAATC	0.378													32	61					0	0	1	0	0	G	51285806	A	G	51285806	3	3	17	1	0	0	0	0	1	0	0	0	748	246	9	4	2396	4	AP4E1	15	51285806	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08		51285806	51245586	9	325											
CORO7	79585	broad.mit.edu	37	16	4412682	4412682	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:4412682C>A	ENST00000251166.4	-	15	1478	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	CORO7_ENST00000423908.2_Missense_Mutation_p.G277W|CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGTGAGGGCCCCAGGCTGGAG	0.667													3	40					0.004672	0.004672	1	1	0	A	4412682	C	A	4412682	3	1	17	1	0	0	0	0	1	0	0	0	3782	623	22	5	1500	5	CORO7	16	4412682	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		4412682	85942071	10	326											
CDH5	1003	broad.mit.edu	37	16	66437025	66437025	+	Silent	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:66437025C>T	ENST00000341529.3	+	12	2456	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	CDH5_ENST00000539168.1_Silent_p.L209L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GTTTAAGATGCTGGCTGAGCT	0.632													3	18					0	0	1	0	0	T	66437025	C	T	66437025	2	4	17	1	0	0	0	0	0	0	0	1	3135	796	28	3		3	CDH5	16	66437025	Silent	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08	62024343	66437025	23917728	11	327											
PRPF8	10594	broad.mit.edu	37	17	1554459	1554459	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:1554459G>A	ENST00000572621.1	-	41	7061	c.6796C>T	c.(6796-6798)Cgt>Tgt	p.R2266C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2266						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAGGAAACGGTCCGACAGC	0.572													3	29					0	0	1	0	0	A	1554459	G	A	1554459	3	1	17	1	0	0	0	0	1	0	0	0	12627	1116	39	2	219	2	PRPF8	17	1554459	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		1554459	79640751	12	328											
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:7577084T>A	ENST00000420246.2	-	8	986	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000269305.4_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000455263.2_Missense_Mutation_p.E285V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		ATTCTCTTCCTCTGTGCGCCG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	5					0	0	1	0	0	A	7577084	T	A	7577084	3	1	17	1	0	0	0	0	1	0	0	0	16442	1551	54	5	432	5	TP53	17	7577084	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	6022625	7577084	73618126	13	329											
TTC39C	125488	broad.mit.edu	37	18	21710341	21710341	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:21710341C>T	ENST00000540918.2	+	7	912	c.662C>T	c.(661-663)gCc>gTc	p.A221V	TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	528							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAGCCGTATGCCTGTTATGAA	0.313													5	139					0	0	1	0	0	T	21710341	C	T	21710341	3	4	17	1	0	0	0	0	1	0	0	0	16771	739	26	3	1629	3	TTC39C	18	21710341	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		21710341	56366907	14	330											
NOL4	8715	broad.mit.edu	37	18	31432959	31432959	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:31432959G>C	ENST00000261592.5	-	11	2061	c.1764C>G	c.(1762-1764)agC>agG	p.S588R	NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	588						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGATCCTGAGCTAGTCGCCA	0.443													5	58					0	0	1	0	0	C	31432959	G	C	31432959	3	2	17	1	0	0	0	0	1	0	0	0	10571	962	34	5	156	5	NOL4	18	31432959	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08	9722618	31432959	46644289	15	331											
VAV1	7409	broad.mit.edu	37	19	6833230	6833230	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:6833230G>A	ENST00000304076.2	+	16	1638	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000602142.1_Missense_Mutation_p.G515E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	515					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCGCCAACGGGCATGACTTC	0.468													18	24					0	0	1	0	0	A	6833230	G	A	6833230	3	1	17	1	0	0	0	0	1	0	0	0	17191	1232	43	3	1606	3	VAV1	19	6833230	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		6833230	52295753	16	332											
ZNF676	163223	broad.mit.edu	37	19	22363510	22363510	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:22363510A>G	ENST00000397121.2	-	3	1326	c.1009T>C	c.(1009-1011)Tac>Cac	p.Y337H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.413													14	142					0	0	1	0	0	G	22363510	A	G	22363510	3	3	17	1	0	0	0	0	1	0	0	0	18140	420	15	4	761	4	ZNF676	19	22363510	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	15530280	22363510	36765473	17	333											
CYP2B6	1555	broad.mit.edu	37	19	41516036	41516036	+	Silent	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:41516036T>C	ENST00000324071.4	+	6	967	c.960T>C	c.(958-960)gtT>gtC	p.V320V	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	320					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCTCATGTTGCAGGTGGGC	0.572													8	52					0	0	1	0	0	C	41516036	T	C	41516036	2	2	17	1	0	0	0	0	0	0	0	1	4187	1799	63	4		4	CYP2B6	19	41516036	Silent	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	19152526	41516036	17612947	18	334											
SLC5A1	6523	broad.mit.edu	37	22	32480635	32480635	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr22:32480635T>A	ENST00000266088.4	+	8	1124	c.874T>A	c.(874-876)Tgc>Agc	p.C292S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	292					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGGTACTGGTGCACAGATCA	0.567													3	39					0	0	1	0	0	A	32480635	T	A	32480635	3	1	17	1	0	0	0	0	1	0	0	0	14716	1696	59	5	904	5	SLC5A1	22	32480635	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		32480635	18823931	19	335											
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647													4	69					0	0	1	0	0	T	34149314	C	T	34149314	3	4	17	1	0	0	0	0	1	0	0	0	5605	536	19	1	1297	1	FAM47A	23	34149314	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		34149314	121121246	20	336											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	159					0	0	1	0	0	G	37028425	A	G	37028425	3	3	17	1	0	0	0	0	1	0	0	0	5607	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	2879111	37028425	118242135	21	337											
LPAR4	2846	broad.mit.edu	37	X	78010713	78010713	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:78010713C>T	ENST00000435339.2	+	2	752	c.347C>T	c.(346-348)aCt>aTt	p.T116I	LPAR4_ENST00000373301.2_Missense_Mutation_p.T116I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	116						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCTGGAACTGCATTCCTT	0.423													33	113					0	0	1	0	0	T	78010713	C	T	78010713	3	4	17	1	0	0	0	0	1	0	0	0	8952	565	20	3	349	3	LPAR4	23	78010713	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08	40982288	78010713	77259847	22	338											
ENOX2	10495	broad.mit.edu	37	X	129803980	129803980	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:129803980T>G	ENST00000338144.3	-	8	1157	c.740A>C	c.(739-741)tAt>tCt	p.Y247S	ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	247					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATGATCTGAATAGTGGACCAC	0.428													37	60					0	0	1	0	0	G	129803980	T	G	129803980	3	3	17	1	0	0	0	0	1	0	0	0	5155	1406	49	5	1128	5	ENOX2	23	129803980	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	51793267	129803980	25466580	23	339											
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	219	---	---	---	---						-	149984526	GTG	-	149984524	7	5	17	1	0	1	0	1	0	0	0	0	3073	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-QR-A6GY-01A-11D-A35D-08	20180544	149984524	5286036	24	340											
EPHB2	2048	broad.mit.edu	37	1	23235625	23235625	+	Silent	SNP	C	C	T			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr1:23235625C>T	ENST00000400191.3	+	13	2481	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	EPHB2_ENST00000374627.1_Silent_p.S816S|EPHB2_ENST00000374632.3_Silent_p.S822S|EPHB2_ENST00000374630.3_Silent_p.S821S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	821	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGTGATGTCCTATGGGGAGC	0.597													13	37					0	0	1	0	0	T	23235625	C	T	23235625	2	4	18	1	0	0	0	0	0	0	0	1	5203	668	24	3		3	EPHB2	1	23235625	Silent	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		23235625	226014996	1	341											
GULP1	51454	broad.mit.edu	37	2	189342446	189342446	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr2:189342446G>A	ENST00000409580.1	+	4	731	c.17G>A	c.(16-18)aGc>aAc	p.S6N	GULP1_ENST00000409637.3_Missense_Mutation_p.S6N|GULP1_ENST00000410051.1_Missense_Mutation_p.S6N|GULP1_ENST00000409609.1_Missense_Mutation_p.S6N|GULP1_ENST00000409843.1_Missense_Mutation_p.S6N|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409805.1_Missense_Mutation_p.S6N|GULP1_ENST00000409830.1_Missense_Mutation_p.S6N|GULP1_ENST00000359135.3_Missense_Mutation_p.S6N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	6					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CGTGCTTTTAGCAGGAAGAAA	0.348													4	74					0	0	1	0	0	A	189342446	G	A	189342446	3	1	18	1	0	0	0	0	1	0	0	0	6942	971	34	3	19	3	GULP1	2	189342446	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		189342446	53856927	2	342											
AQP12A	375318	broad.mit.edu	37	2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr2:241631584G>T	ENST00000429564.1	+	2	316	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F	AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667													4	66					0.00307968	0.00307968	1	1	0	T	241631584	G	T	241631584	3	4	18	1	0	0	0	0	1	0	0	0	821	1261	44	5	223	5	AQP12A	2	241631584	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08	52289138	241631584	1567789	3	343											
SLC33A1	9197	broad.mit.edu	37	3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr3:155571395G>A	ENST00000392845.2	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	131					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438													3	36					0	0	1	0	0	A	155571395	G	A	155571395	3	1	18	1	0	0	0	0	1	0	0	0	14621	1087	38	1	1281	1	SLC33A1	3	155571395	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		155571395	42451035	4	344											
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	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	0.632													3	19					0	0	1	0	0	A	60241050	G	A	60241050	1	1	18	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		60241050	120674210	5	345											
THEMIS	387357	broad.mit.edu	37	6	128134119	128134119	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr6:128134119C>T	ENST00000368250.1	-	5	1928	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	THEMIS_ENST00000537166.1_Missense_Mutation_p.R521H|THEMIS_ENST00000543064.1_Missense_Mutation_p.R556H|THEMIS_ENST00000368248.2_Missense_Mutation_p.R556H			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	556	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTCGGAGGGCGAGGTGGGGG	0.493													4	106					0	0	1	0	0	T	128134119	C	T	128134119	3	4	18	1	0	0	0	0	1	0	0	0	15920	768	27	1	391	1	THEMIS	6	128134119	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		128134119	42980948	6	346											
WNK2	65268	broad.mit.edu	37	9	96002081	96002081	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr9:96002081delG	ENST00000297954.4	+	6	1365	c.1365delG	c.(1363-1365)gafs	p.E455fs	WNK2_ENST00000427277.2_Frame_Shift_Del_p.E67fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.E441fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.E455fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.E67fs|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	455					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCTTCGCAGAGGACACAGGCG	0.647													2	4	---	---	---	---						-	96002081	G	-	96002081	7	5	18	1	0	1	0	1	0	0	0	0	17438	991	35	0	1387	0	WNK2	9	96002081	Frame_Shift_Del	DEL	G	TCGA-QR-A6GZ-01A-11D-A35D-08		96002081	45211350	7	347											
OR10A5	144124	broad.mit.edu	37	11	6867636	6867636	+	Silent	SNP	G	G	A			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr11:6867636G>A	ENST00000299454.4	+	1	754	c.723G>A	c.(721-723)acG>acA	p.T241T	OR10A5_ENST00000379831.2_Silent_p.T245T			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTCTCTACGTGCTCCTCAC	0.443													4	107					0	0	1	0	0	A	6867636	G	A	6867636	2	1	18	1	0	0	0	0	0	0	0	1	10941	1132	40	1		1	OR10A5	11	6867636	Silent	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		6867636	128138880	8	348											
PTPRCAP	5790	broad.mit.edu	37	11	67203697	67203699	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr11:67203697_67203699delAGC	ENST00000326294.3	-	2	573_575	c.126_128delGCT	c.(124-129)ctc>ct	p.LL44del		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	44					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			cagcagtaggagcagcagcagca	0.714													2	4	---	---	---	---						-	67203699	AGC	-	67203697	7	5	18	1	0	1	0	1	0	0	0	0	12850	304	11	0	496	0	PTPRCAP	11	67203697	In_Frame_Del	DEL	AGC	TCGA-QR-A6GZ-01A-11D-A35D-08	60336061	67203697	67802819	9	349											
MMP19	4327	broad.mit.edu	37	12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr12:56230872C>T	ENST00000394182.1	-	4	616	c.617G>A	c.(616-618)gGc>gAc	p.G206D	MMP19_ENST00000548629.1_Missense_Mutation_p.G469D|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.G492D			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	492					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAAGGTTATGCCCGTACCTGA	0.507													4	156					0	0	1	0	0	T	56230872	C	T	56230872	3	4	18	1	0	0	0	0	1	0	0	0	9705	739	26	3	55	3	MMP19	12	56230872	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		56230872	77621023	10	350											
TPCN1	53373	broad.mit.edu	37	12	113714812	113714812	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr12:113714812A>G	ENST00000550785.1	+	12	1416	c.1247A>G	c.(1246-1248)cAt>cGt	p.H416R	TPCN1_ENST00000541517.1_Missense_Mutation_p.H416R|TPCN1_ENST00000392569.4_Missense_Mutation_p.H276R|TPCN1_ENST00000335509.6_Missense_Mutation_p.H344R	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	344						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GCTATCCAGCATGCCTACCGC	0.567													63	159					0	0	1	0	0	G	113714812	A	G	113714812	3	3	18	1	0	0	0	0	1	0	0	0	16456	217	8	4	1289	4	TPCN1	12	113714812	Missense_Mutation	SNP	A	TCGA-QR-A6GZ-01A-11D-A35D-08	57483940	113714812	20137083	11	351											
SALL1	6299	broad.mit.edu	37	16	51173041	51173041	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr16:51173041C>T	ENST00000440970.1	-	2	3232	c.2801G>A	c.(2800-2802)tGc>tAc	p.C934Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C1031Y|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1031					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAAACTGTGCAAATAAATGG	0.423													8	36					0	0	1	0	0	T	51173041	C	T	51173041	3	4	18	1	0	0	0	0	1	0	0	0	13862	710	25	3	890	3	SALL1	16	51173041	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		51173041	39181712	12	352											
CDH20	28316	broad.mit.edu	37	18	59221533	59221533	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr18:59221533G>A	ENST00000262717.4	+	12	2409	c.2011G>A	c.(2011-2013)Ggc>Agc	p.G671S	CDH20_ENST00000536675.2_Missense_Mutation_p.G671S|CDH20_ENST00000538374.1_Missense_Mutation_p.G671S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	671					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGAGGGCGGCGGCGAGGAGGA	0.652													29	96					0	0	1	0	0	A	59221533	G	A	59221533	3	1	18	1	0	0	0	0	1	0	0	0	3128	1116	39	2	2053	2	CDH20	18	59221533	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		59221533	18855715	13	353											
TCHH	7062	broad.mit.edu	37	1	152082552	152082552	+	Silent	SNP	C	C	T			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr1:152082552C>T	ENST00000368804.1	-	2	3140	c.3141G>A	c.(3139-3141)gaG>gaA	p.E1047E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1047	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATATTGCCTCTCCCGCTCCT	0.582													4	105					0	0	1	0	0	T	152082552	C	T	152082552	2	4	19	1	0	0	0	0	0	0	0	1	15760	912	32	3		3	TCHH	1	152082552	Silent	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		152082552	97168069	1	354											
SLC25A44	9673	broad.mit.edu	37	1	156177746	156177746	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr1:156177746C>T	ENST00000359511.4	+	3	867	c.695C>T	c.(694-696)gCt>gTt	p.A232V	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.A209V	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	232					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGGCCCCTGGCTGCAGCCACT	0.557													9	41					0	0	1	0	0	T	156177746	C	T	156177746	3	4	19	1	0	0	0	0	1	0	0	0	14564	797	28	3	701	3	SLC25A44	1	156177746	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08	4095194	156177746	93072875	2	355											
MED12L	116931	broad.mit.edu	37	3	151067935	151067935	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr3:151067935A>C	ENST00000474524.1	+	15	2272	c.2234A>C	c.(2233-2235)aAg>aCg	p.K745T	MED12L_ENST00000273432.4_Missense_Mutation_p.K605T|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	745					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCAGCTGAAGAAGATTACC	0.418													4	88					0	0	1	0	0	C	151067935	A	C	151067935	3	2	19	1	0	0	0	0	1	0	0	0	9479	72	3	5	2292	5	MED12L	3	151067935	Missense_Mutation	SNP	A	TCGA-QR-A6H0-01A-11D-A35D-08		151067935	46954495	3	356											
NLGN1	22871	broad.mit.edu	37	3	173322724	173322724	+	Silent	SNP	A	A	G			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr3:173322724A>G	ENST00000457714.1	+	3	765	c.336A>G	c.(334-336)caA>caG	p.Q112Q	NLGN1_ENST00000545397.1_Silent_p.Q112Q|NLGN1_ENST00000401917.3_Silent_p.Q112Q|NLGN1_ENST00000361589.4_Silent_p.Q112Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	112					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGCCACTCAATTTGCTCCTG	0.463													18	69					0	0	1	0	0	G	173322724	A	G	173322724	2	3	19	1	0	0	0	0	0	0	0	1	10508	98	4	4		4	NLGN1	3	173322724	Silent	SNP	A	TCGA-QR-A6H0-01A-11D-A35D-08	22254789	173322724	24699706	4	357											
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537													4	22					0	0	1	0	0	T	140811108	C	T	140811108	2	4	19	1	0	0	0	0	0	0	0	1	9257	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		140811108	50343168	5	358											
TRIML1	339976	broad.mit.edu	37	4	189060901	189060901	+	Silent	SNP	G	G	A	rs147444946	byFrequency	TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													7	73					0	0	1	0	0	A	189060901	G	A	189060901	2	1	19	1	0	0	0	0	0	0	0	1	16611	1074	38	1		1	TRIML1	4	189060901	Silent	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08	48249793	189060901	2093375	6	359											
TULP1	7287	broad.mit.edu	37	6	35473863	35473863	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:35473863G>A	ENST00000229771.6	-	10	995	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	TULP1_ENST00000322263.4_Missense_Mutation_p.R253C	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	306					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGCAGCGCACCGTGCGG	0.677													14	42					0	0	1	0	0	A	35473863	G	A	35473863	3	1	19	1	0	0	0	0	1	0	0	0	16835	1087	38	1	736	1	TULP1	6	35473863	Missense_Mutation	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08		35473863	135641204	7	360											
LCA5	167691	broad.mit.edu	37	6	80201370	80201370	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:80201370G>A	ENST00000392959.1	-	7	1644	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	LCA5_ENST00000467898.2_Missense_Mutation_p.P345S|LCA5_ENST00000369846.4_Missense_Mutation_p.P345S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	345					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGAGTTAAAGGATATTCTTCT	0.373													21	111					0	0	1	0	0	A	80201370	G	A	80201370	3	1	19	1	0	0	0	0	1	0	0	0	8695	1174	41	3	1072	3	LCA5	6	80201370	Missense_Mutation	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08	44727507	80201370	90913697	8	361											
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	SNP	T	T	C	rs35128811		TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:152539540T>C	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)			4	131					0	0	1	0	0	C	152539540	T	C	152539540	5	2	19	1	0	0	0	0	0	0	1	0	15502	1623	56	4	4527	4	SYNE1	6	152539540	Splice_Site	SNP	T	TCGA-QR-A6H0-01A-11D-A35D-08	72338170	152539540	18575527	9	362											
ARMC3	219681	broad.mit.edu	37	10	23248052	23248052	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr10:23248052C>G	ENST00000298032.5	+	5	430	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q116E|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q116E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	116							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATTGCCCAGCTCGCTCC	0.284													9	73					0	0	1	0	0	G	23248052	C	G	23248052	3	3	19	1	0	0	0	0	1	0	0	0	951	595	21	5	360	5	ARMC3	10	23248052	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		23248052	112286695	10	363											
TRUB1	142940	broad.mit.edu	37	10	116698250	116698250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr10:116698250delC	ENST00000298746.3	+	1	299	c.238delC	c.(238-240)ccfs	p.P80fs	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	80					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GCCCAAAGGGCCCACTTCAGC	0.657													2	4	---	---	---	---						-	116698250	C	-	116698250	7	5	19	1	0	1	0	1	0	0	0	0	16663	739	26	0	240	0	TRUB1	10	116698250	Frame_Shift_Del	DEL	C	TCGA-QR-A6H0-01A-11D-A35D-08	93450198	116698250	18836497	11	364											
APOA1	335	broad.mit.edu	37	11	116706628	116706628	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr11:116706628C>T	ENST00000236850.4	-	4	1065	c.700G>A	c.(700-702)Gcg>Acg	p.A234T	APOA1_ENST00000375320.1_Missense_Mutation_p.A234T|APOA1_ENST00000375329.2_Missense_Mutation_p.A212T|APOA1_ENST00000375323.1_Missense_Mutation_p.A234T|APOA1_ENST00000359492.2_Missense_Mutation_p.A234T	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	234	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCTCGAGCGCGGGCTTGGCC	0.642													3	54					0	0	1	0	0	T	116706628	C	T	116706628	3	4	19	1	0	0	0	0	1	0	0	0	777	768	27	1	107	1	APOA1	11	116706628	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		116706628	18299888	12	365											
CCDC137	339230	broad.mit.edu	37	17	79639622	79639622	+	Frame_Shift_Del	DEL	A	A	-	rs35963091		TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr17:79639622delA	ENST00000329214.8	+	6	1161	c.758delA	c.(757-759)ggfs	p.E254fs		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	254										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATTGTGGAGGAGGAGAGAGAG	0.672													2	4	---	---	---	---						-	79639622	A	-	79639622	7	5	19	1	0	1	0	1	0	0	0	0	2789	304	11	0	780	0	CCDC137	17	79639622	Frame_Shift_Del	DEL	A	TCGA-QR-A6H0-01A-11D-A35D-08		79639622	1555588	13	366											
EFNB1	1947	broad.mit.edu	37	X	68058545	68058545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chrX:68058545delC	ENST00000204961.4	+	2	994	c.214delC	c.(214-216)ccfs	p.P72fs		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	72					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCAGGGCGGCCCTATGAGTA	0.572													2	4	---	---	---	---						-	68058545	C	-	68058545	7	5	19	1	0	1	0	1	0	0	0	0	4981	739	26	0	220	0	EFNB1	23	68058545	Frame_Shift_Del	DEL	C	TCGA-QR-A6H0-01A-11D-A35D-08		68058545	87212015	14	367											
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458													5	68					0	0	1	0	0	C	12907458	T	C	12907458	3	2	20	1	0	0	0	0	1	0	0	0	7304	1464	51	4	198	4	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		12907458	236343163	1	368											
SOX13	9580	broad.mit.edu	37	1	204083473	204083473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:204083473delG	ENST00000367204.1	+	3	353	c.244delG	c.(244-246)ggfs	p.G82fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	82					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGGGTAATGGGTCCCCAGA	0.552													2	4	---	---	---	---						-	204083473	G	-	204083473	7	5	20	1	0	1	0	1	0	0	0	0	14998	1348	47	0	250	0	SOX13	1	204083473	Frame_Shift_Del	DEL	G	TCGA-QR-A6H1-01A-11D-A35D-08	191176015	204083473	45167148	2	369											
COG2	22796	broad.mit.edu	37	1	230825896	230825896	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:230825896A>G	ENST00000534989.1	+	16	2089	c.1754A>G	c.(1753-1755)cAt>cGt	p.H585R	COG2_ENST00000366668.3_Missense_Mutation_p.H643R|COG2_ENST00000366669.4_Missense_Mutation_p.H644R|COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	644					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAAAGCACTCATAAGTAAGTA	0.473													34	47					0	0	1	0	0	G	230825896	A	G	230825896	3	3	20	1	0	0	0	0	1	0	0	0	3681	217	8	4	1993	4	COG2	1	230825896	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	26742423	230825896	18424725	3	370											
SMC6	79677	broad.mit.edu	37	2	17883154	17883154	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:17883154G>A	ENST00000448223.2	-	20	2434	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	SMC6_ENST00000381272.4_Missense_Mutation_p.S748F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F|SMC6_ENST00000402989.1_Missense_Mutation_p.S722F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	722					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCGAATTTCAGAAATATTTTT	0.249													12	26					0	0	1	0	0	A	17883154	G	A	17883154	3	1	20	1	0	0	0	0	1	0	0	0	14841	942	33	3	1146	3	SMC6	2	17883154	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		17883154	225316219	4	371											
XDH	7498	broad.mit.edu	37	2	31628832	31628832	+	Splice_Site	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:31628832T>C	ENST00000379416.3	-	2	91		c.e2-2			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCACCACCTATTAAAATAA	0.383													17	40					0	0	1	0	0	C	31628832	T	C	31628832	5	2	20	1	0	0	0	0	0	0	1	0	17486	1536	53	4	4100	4	XDH	2	31628832	Splice_Site	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08	13745678	31628832	211570541	5	372											
LRP1B	53353	broad.mit.edu	37	2	141092044	141092044	+	Silent	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:141092044T>C	ENST00000389484.3	-	79	13172	c.12201A>G	c.(12199-12201)caA>caG	p.Q4067Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4067					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAAGTTCTTTTGTACTAAAA	0.398										TSP Lung(27;0.18)			22	33					0	0	1	0	0	C	141092044	T	C	141092044	2	2	20	1	0	0	0	0	0	0	0	1	9000	1838	64	4		4	LRP1B	2	141092044	Silent	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08	109463212	141092044	102107329	6	373											
NCKAP1	10787	broad.mit.edu	37	2	183832016	183832016	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:183832016A>G	ENST00000360982.2	-	17	2332	c.1574T>C	c.(1573-1575)aTa>aCa	p.I525T	NCKAP1_ENST00000361354.3_Missense_Mutation_p.I519T	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	519					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAAAAATTATTGTATTCAT	0.333													41	53					0	0	1	0	0	G	183832016	A	G	183832016	3	3	20	1	0	0	0	0	1	0	0	0	10268	449	16	4	1894	4	NCKAP1	2	183832016	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	42739972	183832016	59367357	7	374											
P4HTM	54681	broad.mit.edu	37	3	49027893	49027894	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr3:49027893_49027894insCA	ENST00000343546.4	+	1	572_573	c.204_205insCA	c.(202-207)gtacctfs	p.P69fs	P4HTM_ENST00000383729.4_Frame_Shift_Ins_p.P69fs	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	69						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGGTGTTCGTGCACCTGTACCT	0.693													7	34	---	---	---	---						CA	49027894	-	CA	49027893	7	5	20	1	0	1	1	0	0	0	0	0	11407	1306	46	0	206	0	P4HTM	3	49027893	Frame_Shift_Ins	INS	-	TCGA-QR-A6H1-01A-11D-A35D-08		49027893	148994537	8	375											
EVC	2121	broad.mit.edu	37	4	5720980	5720980	+	Silent	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr4:5720980C>T	ENST00000382674.2	+	2	364	c.180C>T	c.(178-180)gaC>gaT	p.D60D	EVC_ENST00000509451.1_Silent_p.D60D|EVC_ENST00000264956.6_Silent_p.D60D			P57679	EVC_HUMAN	Ellis van Creveld syndrome	60					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTTAGAAAGACGACACTCAAA	0.522													44	70					0	0	1	0	0	T	5720980	C	T	5720980	2	4	20	1	0	0	0	0	0	0	0	1	5313	535	19	1		1	EVC	4	5720980	Silent	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		5720980	185433296	9	376											
PCDHA10	0	broad.mit.edu	37	5	140236490	140236490	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr5:140236490C>T	ENST00000307360.5	+	1	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCCCACCCACGATAAGA	0.358													25	4					0	0	1	0	0	T	140236490	C	T	140236490	3	4	20	1	0	0	0	0	1	0	0	0	11567	623	22	3	859	3	PCDHA10	5	140236490	Missense_Mutation	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		140236490	40678770	10	377											
C1GALT1	56913	broad.mit.edu	37	7	7283232	7283232	+	Silent	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:7283232C>T	ENST00000436587.2	+	4	1189	c.966C>T	c.(964-966)ctC>ctT	p.L322L	C1GALT1_ENST00000223122.2_Silent_p.L322L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	322					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGAATACCTCGTTTATCATC	0.353													4	152					0	0	1	0	0	T	7283232	C	T	7283232	2	4	20	1	0	0	0	0	0	0	0	1	1965	871	31	2		2	C1GALT1	7	7283232	Silent	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		7283232	151855431	11	378											
ZAN	7455	broad.mit.edu	37	7	100363053	100363053	+	RNA	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:100363053G>A	ENST00000542585.1	+	0	4494				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGATTCTCCGGCATGTTCTGC	0.617													3	31					0	0	1	0	0	A	100363053	G	A	100363053	1	1	20	0	1	0	0	0	0	0	0	0	17573	1203	42	3		3	ZAN	7	100363053	RNA	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08	93079821	100363053	58775610	12	379											
IPPK	64768	broad.mit.edu	37	9	95414857	95414857	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:95414857G>C	ENST00000287996.3	-	4	566	c.290C>G	c.(289-291)cCa>cGa	p.P97R		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	97					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACCCTTACCTGGTCTTTCAGA	0.313													40	61					0	0	1	0	0	C	95414857	G	C	95414857	3	2	20	1	0	0	0	0	1	0	0	0	7845	1348	47	5	1225	5	IPPK	9	95414857	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		95414857	45798574	13	380											
ZNF367	195828	broad.mit.edu	37	9	99180259	99180261	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:99180259_99180261delGGC	ENST00000375256.4	-	1	350_352	c.54_56delGCC	c.(52-57)ccc>cc	p.PP18del		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	18	Pro-rich.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAGATGACGggcggcggcggcg	0.749													2	4	---	---	---	---						-	99180261	GGC	-	99180259	7	5	20	1	0	1	0	1	0	0	0	0	17928	1232	43	0	1016	0	ZNF367	9	99180259	In_Frame_Del	DEL	GGC	TCGA-QR-A6H1-01A-11D-A35D-08	3765402	99180259	42033172	14	381											
ZNF462	58499	broad.mit.edu	37	9	109688235	109688235	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:109688235A>G	ENST00000277225.5	+	3	2331	c.2042A>G	c.(2041-2043)aAt>aGt	p.N681S	ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	681					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGCTCGCCAATGACTTTCCT	0.448													18	145					0	0	1	0	0	G	109688235	A	G	109688235	3	3	20	1	0	0	0	0	1	0	0	0	17983	101	4	4	2048	4	ZNF462	9	109688235	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	10507976	109688235	31525196	15	382											
COX15	1355	broad.mit.edu	37	10	101473220	101473220	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr10:101473220T>C	ENST00000370483.5	-	9	1168	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	0					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		aaaagtaaagttgaataagac	0.358													10	37					0	0	1	0	0	C	101473220	T	C	101473220	3	2	20	1	0	0	0	0	1	0	0	0	3787	1725	60	4	52	4	COX15	10	101473220	Missense_Mutation	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		101473220	34061527	16	383											
AHNAK	79026	broad.mit.edu	37	11	62295869	62295869	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr11:62295869A>T	ENST00000378024.4	-	5	6294	c.6020T>A	c.(6019-6021)aTg>aAg	p.M2007K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2007					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGACACATCCATATCCCCTTT	0.483													5	353					0	0	1	0	0	T	62295869	A	T	62295869	3	4	20	1	0	0	0	0	1	0	0	0	411	217	8	5	11772	5	AHNAK	11	62295869	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08		62295869	72710647	17	384											
RFC5	5985	broad.mit.edu	37	12	118463630	118463630	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr12:118463630G>T	ENST00000392542.2	+	8	1130	c.597G>T	c.(595-597)ttG>ttT	p.L199F	RFC5_ENST00000229043.3_Missense_Mutation_p.L135F|RFC5_ENST00000454402.2_Missense_Mutation_p.L220F	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	220					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAACATTTTGCAGGTATGGT	0.418													4	60					2.56e-06	2.73655e-06	1	1	0	T	118463630	G	T	118463630	3	4	20	1	0	0	0	0	1	0	0	0	13300	1310	46	5	692	5	RFC5	12	118463630	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		118463630	15388265	18	385											
ZNF629	23361	broad.mit.edu	37	16	30793592	30793592	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr16:30793592T>C	ENST00000262525.4	-	3	2264	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGCTTTTCGTTGCCGTGGGT	0.572													3	14					0	0	1	0	0	C	30793592	T	C	30793592	3	2	20	1	0	0	0	0	1	0	0	0	18110	1725	60	4	556	4	ZNF629	16	30793592	Missense_Mutation	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		30793592	59561161	19	386											
KRT14	3861	broad.mit.edu	37	17	39740077	39740077	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr17:39740077G>A	ENST00000167586.6	-	4	948	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	288	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTC	0.557													4	123					0	0	1	0	0	A	39740077	G	A	39740077	3	1	20	1	0	0	0	0	1	0	0	0	8494	1087	38	1	576	1	KRT14	17	39740077	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		39740077	41455133	20	387											
MAN2B1	4125	broad.mit.edu	37	19	12758270	12758271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:12758270_12758271insT	ENST00000456935.2	-	22	2846_2847	c.2806_2807insA	c.(2806-2808)cttfs	p.L936fs	CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.S122fs|MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.L935fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	936					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAGTTCAAGGTAACGGGGGCG	0.579													52	80	---	---	---	---						T	12758271	-	T	12758270	7	5	20	1	0	1	1	0	0	0	0	0	9266	1261	44	0	240	0	MAN2B1	19	12758270	Frame_Shift_Ins	INS	-	TCGA-QR-A6H1-01A-11D-A35D-08		12758270	46370713	21	388											
CC2D1A	54862	broad.mit.edu	37	19	14031583	14031583	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:14031583C>A	ENST00000318003.7	+	14	1730	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	497					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGCCTTCCTAGAGGGCCG	0.647													12	11					6.40141e-05	6.61479e-05	1	1	0	A	14031583	C	A	14031583	3	1	20	1	0	0	0	0	1	0	0	0	2744	680	24	5	1543	5	CC2D1A	19	14031583	Missense_Mutation	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08	1273313	14031583	45097400	22	389											
FCAR	2204	broad.mit.edu	37	19	55401054	55401054	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:55401054G>A	ENST00000355524.3	+	5	699	c.689G>A	c.(688-690)cGc>cAc	p.R230H	FCAR_ENST00000391726.3_Missense_Mutation_p.R122H|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	230					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.R230H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACTTGATCCGCATGGCCGTG	0.532													5	355					0	0	1	0	0	A	55401054	G	A	55401054	3	1	20	1	0	0	0	0	1	0	0	0	5806	1087	38	1	778	1	FCAR	19	55401054	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08	41369471	55401054	3727929	23	390											
PLP1	5354	broad.mit.edu	37	X	103040511	103040511	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chrX:103040511G>A	ENST00000418604.1	+	3	285	c.4_splice	c.e3-1	p.G2_splice	PLP1_ENST00000361621.2_Splice_Site_p.G2_splice|PLP1_ENST00000303958.2_Splice_Site_p.G2_splice	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	2					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCTTCCCCAGGCTTGTTAGAG	0.562													65	19					0	0	1	0	0	A	103040511	G	A	103040511	5	1	20	1	0	0	0	0	0	0	1	0	12152	1217	42	3	11	3	PLP1	23	103040511	Splice_Site	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		103040511	52230049	24	391											
WDR52	55779	broad.mit.edu	37	3	113145101	113145101	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr3:113145101C>A	ENST00000393845.2	-	4	343	c.277G>T	c.(277-279)Gct>Tct	p.A93S	WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.A93S	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	93										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCTTCCACAGCTGGAGCAGGG	0.398													4	84					0.00909568	0.00952881	1	1	0	A	113145101	C	A	113145101	3	1	21	1	0	0	0	0	1	0	0	0	17364	797	28	5	5430	5	WDR52	3	113145101	Missense_Mutation	SNP	C	TCGA-QR-A6H2-01A-11D-A35D-08		113145101	84877329	1	392											
MEPE	56955	broad.mit.edu	37	4	88767438	88767438	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr4:88767438C>A	ENST00000497649.2	+	6	1724	c.1346C>A	c.(1345-1347)cCc>cAc	p.P449H	MEPE_ENST00000424957.3_Missense_Mutation_p.P473H|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000395102.4_Missense_Mutation_p.P504H|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	473					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CATTATGTACCCCACAGACAA	0.413													6	45					3.59834e-05	3.95817e-05	1	1	0	A	88767438	C	A	88767438	3	1	21	1	0	0	0	0	1	0	0	0	9528	623	22	5	1428	5	MEPE	4	88767438	Missense_Mutation	SNP	C	TCGA-QR-A6H2-01A-11D-A35D-08		88767438	102386838	2	393											
ZFPM2	23414	broad.mit.edu	37	8	106815687	106815687	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr8:106815687T>C	ENST00000407775.2	+	8	3627	c.3377T>C	c.(3376-3378)aTc>aCc	p.I1126T	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1126					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTATGTGATATCCAGTTCAAC	0.418													3	19					0	0	1	0	0	C	106815687	T	C	106815687	3	2	21	1	0	0	0	0	1	0	0	0	17716	1435	50	4	3407	4	ZFPM2	8	106815687	Missense_Mutation	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		106815687	39548335	3	394											
FAM188A	80013	broad.mit.edu	37	10	15883458	15883458	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:15883458G>A	ENST00000277632.3	-	4	596	c.376C>T	c.(376-378)Cct>Tct	p.P126S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	126					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACTCTGCAGGACTCCCAGAA	0.348													5	36					0	0	1	0	0	A	15883458	G	A	15883458	3	1	21	1	0	0	0	0	1	0	0	0	5545	1174	41	3	1009	3	FAM188A	10	15883458	Missense_Mutation	SNP	G	TCGA-QR-A6H2-01A-11D-A35D-08		15883458	119651289	4	395											
MORN4	118812	broad.mit.edu	37	10	99376082	99376082	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:99376082A>C	ENST00000335628.3	-	4	552	c.553T>G	c.(553-555)Tgt>Ggt	p.C185G	MORN4_ENST00000307450.6_Missense_Mutation_p.C127G|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	127										large_intestine(1)|lung(1)|stomach(2)	4						ATGGCAGAACACTTCTCACGT	0.542													9	17					0	0	1	0	0	C	99376082	A	C	99376082	3	2	21	1	0	0	0	0	1	0	0	0	9759	159	6	5	65	5	MORN4	10	99376082	Missense_Mutation	SNP	A	TCGA-QR-A6H2-01A-11D-A35D-08	83492624	99376082	36158665	5	396											
CUL4A	8451	broad.mit.edu	37	13	113888241	113888241	+	Silent	SNP	T	T	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr13:113888241T>C	ENST00000451881.1	+	7	655	c.406T>C	c.(406-408)Ttg>Ctg	p.L136L	CUL4A_ENST00000326335.4_Silent_p.L136L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000375440.4_Silent_p.L236L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	236					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACTGAAATTTTTGGAAGAGAC	0.403													5	46					0	0	1	0	0	C	113888241	T	C	113888241	2	2	21	1	0	0	0	0	0	0	0	1	4080	1838	64	4		4	CUL4A	13	113888241	Silent	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		113888241	1281637	6	397											
MAP4K5	11183	broad.mit.edu	37	14	50904710	50904710	+	Silent	SNP	G	G	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr14:50904710G>C	ENST00000013125.4	-	24	2043	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	575	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGTGAGAGTAGAGCTGAAAGG	0.348													3	39					0	0	1	0	0	C	50904710	G	C	50904710	2	2	21	1	0	0	0	0	0	0	0	1	9313	929	33	5		5	MAP4K5	14	50904710	Silent	SNP	G	TCGA-QR-A6H2-01A-11D-A35D-08		50904710	56444830	7	398											
AGBL1	123624	broad.mit.edu	37	15	86810268	86810268	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr15:86810268T>G	ENST00000441037.2	+	12	1756	c.1661T>G	c.(1660-1662)tTt>tGt	p.F554C	AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C|AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	554					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTCCAAATTTGAGTCAGGA	0.408													4	1					0	0	1	0	0	G	86810268	T	G	86810268	3	3	21	1	0	0	0	0	1	0	0	0	372	1841	64	5	1703	5	AGBL1	15	86810268	Missense_Mutation	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		86810268	15721124	8	399											
ZNF519	162655	broad.mit.edu	37	18	14106297	14106297	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr18:14106297A>G	ENST00000590202.1	-	3	394	c.242T>C	c.(241-243)tTa>tCa	p.L81S	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTTTTTCCATAAGCATATATT	0.353													17	19					0	0	1	0	0	G	14106297	A	G	14106297	3	3	21	1	0	0	0	0	1	0	0	0	18021	372	13	4	1384	4	ZNF519	18	14106297	Missense_Mutation	SNP	A	TCGA-QR-A6H2-01A-11D-A35D-08		14106297	63970951	9	400											
MED25	81857	broad.mit.edu	37	19	50338834	50338834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr19:50338834delA	ENST00000312865.6	+	15	1771	c.1718delA	c.(1717-1719)ggfs	p.E573fs	MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	573	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCATTCTGGAGGACCAAGCC	0.667													2	4	---	---	---	---						-	50338834	A	-	50338834	7	5	21	1	0	1	0	1	0	0	0	0	9493	304	11	0	1776	0	MED25	19	50338834	Frame_Shift_Del	DEL	A	TCGA-QR-A6H2-01A-11D-A35D-08		50338834	8790149	10	401											
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctg>c	p.LV6del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	6					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													3	5	---	---	---	---						-	21857871	TGG	-	21857869	7	5	21	1	0	1	0	1	0	0	0	0	9412	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-QR-A6H2-01A-11D-A35D-08		21857869	133412691	11	402											
PCYT1B	9468	broad.mit.edu	37	X	24637194	24637195	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:24637194_24637195delGT	ENST00000379145.1	-	2	114_115	c.70_71delAC	c.(70-72)tfs	p.T24fs	PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.T42fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	42						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCAGGTGCAGTCAGGGTCTAG	0.48													10	2	---	---	---	---						-	24637195	GT	-	24637194	7	5	21	1	0	1	0	1	0	0	0	0	11658	1029	36	0	1049	0	PCYT1B	23	24637194	Frame_Shift_Del	DEL	GT	TCGA-QR-A6H2-01A-11D-A35D-08	2779325	24637194	130633366	12	403											
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr1:201982405G>A	ENST00000359651.3	+	6	3976	c.784G>A	c.(784-786)Gag>Aag	p.E262K	ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632													10	30					0	0	1	0	0	A	201982405	G	A	201982405	3	1	22	1	0	0	0	0	1	0	0	0	5083	1059	37	2	806	2	ELF3	1	201982405	Missense_Mutation	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		201982405	47268216	1	404											
EIF2AK1	27102	broad.mit.edu	37	7	6085711	6085711	+	Silent	SNP	A	A	C			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr7:6085711A>C	ENST00000199389.6	-	6	767	c.621T>G	c.(619-621)gtT>gtG	p.V207V	EIF2AK1_ENST00000536084.1_Silent_p.V83V|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	207	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CCTTCATGCAAACTGTTTTAG	0.254													6	18					0	0	1	0	0	C	6085711	A	C	6085711	2	2	22	1	0	0	0	0	0	0	0	1	5022	1	1	5		5	EIF2AK1	7	6085711	Silent	SNP	A	TCGA-QR-A6H3-01A-11D-A35D-08		6085711	153052952	2	405											
RP1	6101	broad.mit.edu	37	8	55541350	55541350	+	Silent	SNP	C	C	T			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:55541350C>T	ENST00000220676.1	+	4	5056	c.4908C>T	c.(4906-4908)taC>taT	p.Y1636Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1636					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAACTGTACGGTAAAGCAG	0.373													5	96					0	0	1	0	0	T	55541350	C	T	55541350	2	4	22	1	0	0	0	0	0	0	0	1	13584	547	19	1		1	RP1	8	55541350	Silent	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		55541350	90822672	3	406											
C8orf33	65265	broad.mit.edu	37	8	146278159	146278159	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:146278159G>A	ENST00000331434.6	+	2	308	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	65										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GATGAAGGCGGCACAGCGTCG	0.557													3	55					0	0	1	0	0	A	146278159	G	A	146278159	3	1	22	1	0	0	0	0	1	0	0	0	2438	1203	42	3	200	3	C8orf33	8	146278159	Missense_Mutation	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08	90736809	146278159	85863	4	407											
STXBP1	6812	broad.mit.edu	37	9	130434339	130434339	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr9:130434339C>T	ENST00000373302.3	+	12	1112	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R325W|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	325					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GACCACCATGCGGGACCTGTC	0.502													3	52					0	0	1	0	0	T	130434339	C	T	130434339	3	4	22	1	0	0	0	0	1	0	0	0	15408	759	27	1	1019	1	STXBP1	9	130434339	Missense_Mutation	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		130434339	10779092	5	408											
DLG5	9231	broad.mit.edu	37	10	79580907	79580907	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr10:79580907C>A	ENST00000372391.2	-	15	3340	c.3335G>T	c.(3334-3336)cGg>cTg	p.R1112L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1112					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGATTTTGGCCGGCGACGCTT	0.602													7	36					1.12685e-05	1.19728e-05	1	1	0	A	79580907	C	A	79580907	3	1	22	1	0	0	0	0	1	0	0	0	4586	652	23	5	2496	5	DLG5	10	79580907	Missense_Mutation	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		79580907	55953840	6	409											
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587													8	409					0	0	1	0	0	A	105409427	G	A	105409427	2	1	22	1	0	0	0	0	0	0	0	1	412	991	35	3		3	AHNAK2	14	105409427	Silent	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		105409427	1940113	7	410											
KRTAP1-1	81851	broad.mit.edu	37	17	39197281	39197281	+	Silent	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:39197281G>A	ENST00000306271.4	-	1	432	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	123						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCTCCACACGGCAGTCTGGGC	0.677													7	26					0	0	1	0	0	A	39197281	G	A	39197281	2	1	22	1	0	0	0	0	0	0	0	1	8545	1195	42	3		3	KRTAP1-1	17	39197281	Silent	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		39197281	41997929	8	411											
BPTF	2186	broad.mit.edu	37	17	65916168	65916168	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:65916168T>G	ENST00000321892.4	+	15	5905	c.5844T>G	c.(5842-5844)atT>atG	p.I1948M	BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1948					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAATAATTAAGAGGAGAG	0.333													4	101					0	0	1	0	0	G	65916168	T	G	65916168	3	3	22	1	0	0	0	0	1	0	0	0	1497	1742	61	5	5902	5	BPTF	17	65916168	Missense_Mutation	SNP	T	TCGA-QR-A6H3-01A-11D-A35D-08	26718887	65916168	15279042	9	412											
LILRB5	0	broad.mit.edu	37	19	54760448	54760448	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr19:54760448A>T	ENST00000450632.1	-	3	336	c.259T>A	c.(259-261)Tcc>Acc	p.S87T	LILRB5_ENST00000316219.5_Missense_Mutation_p.S87T|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TACACCGTGGATGGAATGTGG	0.607													53	208					0	0	1	0	0	T	54760448	A	T	54760448	3	4	22	1	0	0	0	0	1	0	0	0	8834	333	12	5	1560	5	LILRB5	19	54760448	Missense_Mutation	SNP	A	TCGA-QR-A6H3-01A-11D-A35D-08		54760448	4368535	10	413											
GATAD2B	57459	broad.mit.edu	37	1	153784291	153784291	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr1:153784291T>C	ENST00000368655.4	-	10	1807	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	522						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGTGGGTATGCCACGCTGG	0.517													17	17					0	0	1	0	0	C	153784291	T	C	153784291	3	2	23	1	0	0	0	0	1	0	0	0	6301	1464	51	4	225	4	GATAD2B	1	153784291	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		153784291	95466330	1	414											
SEC16B	89866	broad.mit.edu	37	1	177928060	177928060	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr1:177928060G>T	ENST00000308284.6	-	9	1138	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.A351D|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	350					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGCTCTGAGCTGCTTTCTG	0.483													3	29					1	1	1	1	0	T	177928060	G	T	177928060	3	4	23	1	0	0	0	0	1	0	0	0	14041	971	34	5	2205	5	SEC16B	1	177928060	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	24143769	177928060	71322561	2	415											
USP34	9736	broad.mit.edu	37	2	61544839	61544839	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr2:61544839T>A	ENST00000398571.2	-	23	3308	c.3232A>T	c.(3232-3234)Aac>Tac	p.N1078Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1078					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CGAGCCAAGTTACAGAGATGC	0.398													25	53					0	0	1	0	0	A	61544839	T	A	61544839	3	1	23	1	0	0	0	0	1	0	0	0	17125	1754	61	5	7640	5	USP34	2	61544839	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		61544839	181654534	3	416											
HPS3	84343	broad.mit.edu	37	3	148868448	148868448	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr3:148868448A>G	ENST00000296051.2	+	6	1366	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	HPS3_ENST00000460120.1_Missense_Mutation_p.Y244C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	409						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGACCCGTACATGGACACC	0.517									Hermansky-Pudlak syndrome				24	28					0	0	1	0	0	G	148868448	A	G	148868448	3	3	23	1	0	0	0	0	1	0	0	0	7381	391	14	4	1248	4	HPS3	3	148868448	Missense_Mutation	SNP	A	TCGA-QR-A6H4-01A-11D-A35D-08		148868448	49153982	4	417											
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512													88	102					0	0	1	0	0	T	5239326	C	T	5239326	2	4	23	1	0	0	0	0	0	0	0	1	260	535	19	1		1	ADAMTS16	5	5239326	Silent	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		5239326	175675934	5	418											
PTPRK	5796	broad.mit.edu	37	6	128643275	128643275	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr6:128643275G>A	ENST00000368227.3	-	3	770	c.404C>T	c.(403-405)gCc>gTc	p.A135V	PTPRK_ENST00000368207.3_Missense_Mutation_p.A135V|PTPRK_ENST00000525459.1_Missense_Mutation_p.A135V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.A135V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A135V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A135V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A135V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	135	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AATTGGATTGGCAAGAGGTCC	0.433													4	64					0	0	1	0	0	A	128643275	G	A	128643275	3	1	23	1	0	0	0	0	1	0	0	0	12857	1203	42	3	4052	3	PTPRK	6	128643275	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		128643275	42471792	6	419											
MRPL13	28998	broad.mit.edu	37	8	121432125	121432125	+	Silent	SNP	T	T	G			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr8:121432125T>G	ENST00000306185.3	-	5	651	c.360A>C	c.(358-360)acA>acC	p.T120T		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	120					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTCCATCATTGTTCTTCTGT	0.323													11	23					0	0	1	0	0	G	121432125	T	G	121432125	2	3	23	1	0	0	0	0	0	0	0	1	9827	1799	63	5		5	MRPL13	8	121432125	Silent	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		121432125	24931897	7	420											
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	C	T			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	8					0	0	1	0	0	T	139395286	C	T	139395286	2	4	23	1	0	0	0	0	0	0	0	1	10594	755	27	1		1	NOTCH1	9	139395286	Silent	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		139395286	1818145	8	421											
TACC2	10579	broad.mit.edu	37	10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr10:123810032C>T	ENST00000369005.1	+	3	453	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M|TACC2_ENST00000334433.3_Missense_Mutation_p.T38M|TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.T38M(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577													6	36					0	0	1	0	0	T	123810032	C	T	123810032	3	4	23	1	0	0	0	0	1	0	0	0	15559	536	19	1	119	1	TACC2	10	123810032	Missense_Mutation	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		123810032	11724715	9	422											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			28	58					0	0	1	0	0	C	533874	T	C	533874	3	2	23	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		533874	134472642	10	423											
TMEM45B	120224	broad.mit.edu	37	11	129728510	129728510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr11:129728510delT	ENST00000281441.3	+	6	846	c.758delT	c.(757-759)atfs	p.I253fs	TMEM45B_ENST00000524567.1_Frame_Shift_Del_p.I253fs	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	253						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGAGAAATCATTGGAATTCAG	0.478													2	4	---	---	---	---						-	129728510	T	-	129728510	7	5	23	1	0	1	0	1	0	0	0	0	16230	1493	52	0	776	0	TMEM45B	11	129728510	Frame_Shift_Del	DEL	T	TCGA-QR-A6H4-01A-11D-A35D-08	129194636	129728510	5278006	11	424											
AHNAK2	113146	broad.mit.edu	37	14	105406664	105406664	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr14:105406664G>C	ENST00000333244.5	-	7	15243	c.15124C>G	c.(15124-15126)Cag>Gag	p.Q5042E	AHNAK2_ENST00000557457.1_Missense_Mutation_p.Q40E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5042						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCTCTCTGTGGCAGGCTG	0.552													36	54					0	0	1	0	0	C	105406664	G	C	105406664	3	2	23	1	0	0	0	0	1	0	0	0	412	1386	48	5	2267	5	AHNAK2	14	105406664	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		105406664	1942876	12	425											
GDE1	51573	broad.mit.edu	37	16	19533268	19533268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr16:19533268delG	ENST00000353258.3	-	1	199	c.19delC	c.(19-21)agfs	p.Q7fs		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	7					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGCCGCCCTGGTCCTCCCAC	0.706													2	4	---	---	---	---						-	19533268	G	-	19533268	7	5	23	1	0	1	0	1	0	0	0	0	6351	1357	47	0	1000	0	GDE1	16	19533268	Frame_Shift_Del	DEL	G	TCGA-QR-A6H4-01A-11D-A35D-08		19533268	70821485	13	426											
RAI1	10743	broad.mit.edu	37	17	17696337	17696350	+	Frame_Shift_Del	DEL	ACGCCTAGAGAATT	ACGCCTAGAGAATT	-	rs139160898		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr17:17696337_17696350delACGCCTAGAGAATT	ENST00000353383.1	+	3	544_557	c.75_88delACGCCTAGAGAATT	c.(73-90)tcacfs	p.SRLENY25fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.SRLENY25fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	25						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAAACATCACGCCTAGAGAATTACAGGCAGCC	0.556													11	7	---	---	---	---						-	17696350	ACGCCTAGAGAATT	-	17696337	7	5	23	1	0	1	0	1	0	0	0	0	13059	146	6	0	77	0	RAI1	17	17696337	Frame_Shift_Del	DEL	ACGCCTAGAGAATT	TCGA-QR-A6H4-01A-11D-A35D-08		17696337	63498873	14	427											
HNRNPM	4670	broad.mit.edu	37	19	8550556	8550556	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:8550556G>A	ENST00000348943.3	+	15	1359	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	HNRNPM_ENST00000325495.4_Missense_Mutation_p.G415D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	415					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGGGGTGCCGGCATGGAGCGC	0.672													4	167					0	0	1	0	0	A	8550556	G	A	8550556	3	1	23	1	0	0	0	0	1	0	0	0	7312	1203	42	3	1298	3	HNRNPM	19	8550556	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		8550556	50578427	15	428											
OR10H2	26538	broad.mit.edu	37	19	15839173	15839173	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:15839173T>C	ENST00000305899.3	+	1	340	c.320T>C	c.(319-321)tTc>tCc	p.F107S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTTCAGCTTCGGCTTCACC	0.642													22	22					0	0	1	0	0	C	15839173	T	C	15839173	3	2	23	1	0	0	0	0	1	0	0	0	10954	1783	62	4	322	4	OR10H2	19	15839173	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08	7288617	15839173	43289810	16	429											
PRMT1	0	broad.mit.edu	37	19	50189933	50189933	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:50189933G>T	ENST00000532489.1	+	10	1350	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	PRMT1_ENST00000391851.4_Missense_Mutation_p.G310C|PRMT1_ENST00000454376.2_Missense_Mutation_p.G328C			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	309						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGTGAAGACGGGCGAGGAGAT	0.682													20	23					6.12954e-19	7.11817e-19	1	1	0	T	50189933	G	T	50189933	3	4	23	1	0	0	0	0	1	0	0	0	12587	1232	43	5	1020	5	PRMT1	19	50189933	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	34350760	50189933	8939050	17	430											
LILRB1	0	broad.mit.edu	37	19	55144196	55144196	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:55144196G>A	ENST00000396331.1	+	7	1300	c.943G>A	c.(943-945)Gac>Aac	p.D315N	LILRB1_ENST00000434867.2_Missense_Mutation_p.D315N|LILRB1_ENST00000448689.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396332.4_Missense_Mutation_p.D315N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D351N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D315N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D315N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D315N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D315N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D315N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	315	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGACCCCCTGGACATCCTGAT	0.677										HNSCC(37;0.09)			4	60					0	0	1	0	0	A	55144196	G	A	55144196	3	1	23	1	0	0	0	0	1	0	0	0	8830	1174	41	3	961	3	LILRB1	19	55144196	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	4954263	55144196	3984787	18	431											
ALMS1	7840	broad.mit.edu	37	2	73675507	73675507	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr2:73675507C>T	ENST00000264448.6	+	8	1961	c.1850C>T	c.(1849-1851)aCc>aTc	p.T617I	ALMS1_ENST00000409009.1_Missense_Mutation_p.T575I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T617I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	617	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACTCTAACCTCTACTTCC	0.463													28	117					0	0	1	0	0	T	73675507	C	T	73675507	3	4	24	1	0	0	0	0	1	0	0	0	531	507	18	3	1880	3	ALMS1	2	73675507	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		73675507	169523866	1	432											
VHL	7428	broad.mit.edu	37	3	10191489	10191489	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr3:10191489G>A	ENST00000256474.2	+	3	1322	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	VHL_ENST00000345392.2_Missense_Mutation_p.R120Q|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.R161P(4)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*12(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGAAAGAGCGATGCCTCCAG	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				10	19					0	0	1	0	0	A	10191489	G	A	10191489	3	1	24	1	0	0	0	0	1	0	0	0	17222	1058	37	2	492	2	VHL	3	10191489	Missense_Mutation	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08		10191489	187830941	2	433											
COL11A2	1302	broad.mit.edu	37	6	33147561	33147561	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr6:33147561C>G	ENST00000341947.2	-	13	1608	c.1381G>C	c.(1381-1383)Ggt>Cgt	p.G461R	COL11A2_ENST00000374713.1_Missense_Mutation_p.G414R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G435R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G375R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G354R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G401R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G440R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G380R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	461	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTGTCACCCCCACCACTG	0.637													3	43					0	0	1	0	0	G	33147561	C	G	33147561	3	3	24	1	0	0	0	0	1	0	0	0	3691	623	22	5	4045	5	COL11A2	6	33147561	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		33147561	137967506	3	434											
SMARCC2	6601	broad.mit.edu	37	12	56578857	56578857	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr12:56578857C>T	ENST00000394023.3	-	4	461	c.356G>A	c.(355-357)cGc>cAc	p.R119H	SMARCC2_ENST00000347471.4_Missense_Mutation_p.R119H|SMARCC2_ENST00000550164.1_Missense_Mutation_p.R119H|SMARCC2_ENST00000267064.4_Missense_Mutation_p.R119H|SMARCC2_ENST00000550859.1_5'UTR|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	119					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCCACATTGCGGTCCATGCG	0.468													4	143					0	0	1	0	0	T	56578857	C	T	56578857	3	4	24	1	0	0	0	0	1	0	0	0	14830	768	27	1	3485	1	SMARCC2	12	56578857	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		56578857	77273038	4	435											
FEM1B	10116	broad.mit.edu	37	15	68581943	68581943	+	Splice_Site	SNP	A	A	G	rs111343207		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr15:68581943A>G	ENST00000306917.4	+	2	863		c.e2-1			NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)						apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTTCATGTGTAGGTATGTCAT	0.453													7	25					0	0	1	0	0	G	68581943	A	G	68581943	5	3	24	1	0	0	0	0	0	0	1	0	5843	434	15	4	253	4	FEM1B	15	68581943	Splice_Site	SNP	A	TCGA-QR-A6H5-01A-11D-A35D-08		68581943	33949449	5	436											
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													6	117					0	0	1	0	0	T	16285491	C	T	16285491	2	4	24	1	0	0	0	0	0	0	0	1	16902	610	22	3		3	UBB	17	16285491	Silent	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		16285491	64909719	6	437											
C20orf85	128602	broad.mit.edu	37	20	56730543	56730543	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr20:56730543A>G	ENST00000371168.3	+	3	231	c.170A>G	c.(169-171)gAt>gGt	p.D57G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	57										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TGTGAAGAAGATCTCCCCACC	0.493													8	44					0	0	1	0	0	G	56730543	A	G	56730543	3	3	24	1	0	0	0	0	1	0	0	0	2134	333	12	4	180	4	C20orf85	20	56730543	Missense_Mutation	SNP	A	TCGA-QR-A6H5-01A-11D-A35D-08		56730543	6294977	7	438											
CXADR	1525	broad.mit.edu	37	21	18937753	18937753	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr21:18937753G>A	ENST00000284878.7	+	7	1589	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	CXADR_ENST00000400165.1_Missense_Mutation_p.M141I|CXADR_ENST00000356275.6_Missense_Mutation_p.C73Y|CXADR_ENST00000400169.1_Missense_Mutation_p.V281M|CXADR_ENST00000400166.1_Missense_Mutation_p.M193I|CXADR_ENST00000306618.10_Missense_Mutation_p.V240M	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	281					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CAGGGAAGATGTGCCACCTCC	0.438													13	52					0	0	1	0	0	A	18937753	G	A	18937753	3	1	24	1	0	0	0	0	1	0	0	0	4099	1377	48	3	867	3	CXADR	21	18937753	Missense_Mutation	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08		18937753	29192142	8	439											
SIK1	150094	broad.mit.edu	37	21	44837473	44837473	+	Silent	SNP	G	G	A			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr21:44837473G>A	ENST00000270162.6	-	13	2058	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	642					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCCGGCTGCCGGCTGCGCCGC	0.756													4	7					0	0	1	0	0	A	44837473	G	A	44837473	2	1	24	1	0	0	0	0	0	0	0	1	14372	1103	39	2		2	SIK1	21	44837473	Silent	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08	25899720	44837473	3292422	9	440											
SPANXN2	494119	broad.mit.edu	37	X	142795397	142795397	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chrX:142795397C>A	ENST00000370498.1	-	2	1034	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	94								p.G94V(1)|p.I76I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGCTGA	0.502													7	471					5.18039e-06	5.75599e-06	1	1	0	A	142795397	C	A	142795397	3	1	24	1	0	0	0	0	1	0	0	0	15047	855	30	5	265	5	SPANXN2	23	142795397	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		142795397	12475163	10	441											
HRNR	388697	broad.mit.edu	37	1	152192788	152192788	+	Silent	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617													4	131					0	0	1	0	0	A	152192788	G	A	152192788	2	1	25	1	0	0	0	0	0	0	0	1	7400	1103	39	2		2	HRNR	1	152192788	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		152192788	97057833	1	442											
SHC1	6464	broad.mit.edu	37	1	154940727	154940727	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:154940727C>T	ENST00000448116.2	-	5	977	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	SHC1_ENST00000368453.4_Missense_Mutation_p.A143T|SHC1_ENST00000368445.5_Missense_Mutation_p.A253T|SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000368450.1_Missense_Mutation_p.A143T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	253	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGTTGGCGATGATCTGA	0.567													5	279					0	0	1	0	0	T	154940727	C	T	154940727	3	4	25	1	0	0	0	0	1	0	0	0	14325	768	27	1	1029	1	SHC1	1	154940727	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08	2747939	154940727	94309894	2	443											
STK11IP	114790	broad.mit.edu	37	2	220466101	220466101	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr2:220466101C>T	ENST00000456909.1	+	3	296	c.206C>T	c.(205-207)tCc>tTc	p.S69F	STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	80					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCGACTCCCCTGTTATT	0.567													5	37					0	0	1	0	0	T	220466101	C	T	220466101	3	4	25	1	0	0	0	0	1	0	0	0	15344	855	30	3	249	3	STK11IP	2	220466101	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		220466101	22733272	3	444											
RASL11B	65997	broad.mit.edu	37	4	53731672	53731672	+	Silent	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr4:53731672C>T	ENST00000248706.3	+	4	665	c.447C>T	c.(445-447)gtC>gtT	p.V149V	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	149	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTGTGGTGGTCGTGGCCAACA	0.547													5	138					0	0	1	0	0	T	53731672	C	T	53731672	2	4	25	1	0	0	0	0	0	0	0	1	13134	871	31	2		2	RASL11B	4	53731672	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		53731672	137422604	4	445											
COL21A1	0	broad.mit.edu	37	6	56044743	56044743	+	Silent	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453													9	22					0	0	1	0	0	A	56044743	G	A	56044743	2	1	25	1	0	0	0	0	0	0	0	1	3703	1045	37	2		2	COL21A1	6	56044743	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		56044743	115070324	5	446											
WBSCR17	64409	broad.mit.edu	37	7	71142222	71142222	+	Silent	SNP	C	C	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr7:71142222C>A	ENST00000333538.5	+	9	2065	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	477	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAAAGACGTCTGCTTGGACC	0.542													5	262					2.0095e-06	2.08127e-06	1	1	0	A	71142222	C	A	71142222	2	1	25	1	0	0	0	0	0	0	0	1	17324	900	32	5		5	WBSCR17	7	71142222	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		71142222	87996441	6	447											
CDKN2A	1029	broad.mit.edu	37	9	21970988	21970988	+	Missense_Mutation	SNP	G	G	A	rs34170727		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:21970988G>A	ENST00000304494.5	-	2	640	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	124			R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).		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.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(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)		GCGACATCGCGATGGCCCAGC	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	21					0	0	1	0	0	A	21970988	G	A	21970988	3	1	25	1	0	0	0	0	1	0	0	0	3183	1058	37	2	108	2	CDKN2A	9	21970988	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		21970988	119242443	7	448											
GOLGA1	2800	broad.mit.edu	37	9	127674230	127674230	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:127674230G>C	ENST00000373555.4	-	11	1252	c.919C>G	c.(919-921)Cta>Gta	p.L307V		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	307						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCTGTTCTAGTCTCTTCTCC	0.453													7	66					0	0	1	0	0	C	127674230	G	C	127674230	3	2	25	1	0	0	0	0	1	0	0	0	6593	1020	36	5	1436	5	GOLGA1	9	127674230	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08	105703242	127674230	13539201	8	449											
NUMA1	0	broad.mit.edu	37	11	71715362	71715362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:71715362delG	ENST00000393695.3	-	25	6363	c.6032delC	c.(6031-6033)cafs	p.P2011fs	NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2011					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CATGGGGCGTGGGAAACAGCT	0.542			T	RARA	APL								21	49	---	---	---	---						-	71715362	G	-	71715362	7	5	25	1	0	1	0	1	0	0	0	0	10798	1348	47	0	327	0	NUMA1	11	71715362	Frame_Shift_Del	DEL	G	TCGA-QR-A6H6-01A-11D-A35D-08		71715362	63291154	9	450											
OR6T1	219874	broad.mit.edu	37	11	123814297	123814297	+	Silent	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:123814297G>A	ENST00000321252.2	-	1	283	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGATGACGACAAGCATCT	0.507													4	75					0	0	1	0	0	A	123814297	G	A	123814297	2	1	25	1	0	0	0	0	0	0	0	1	11257	1045	37	2		2	OR6T1	11	123814297	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08	52098935	123814297	11192219	10	451											
TEAD4	7004	broad.mit.edu	37	12	3131089	3131089	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr12:3131089G>A	ENST00000359864.2	+	10	993	c.803G>A	c.(802-804)cGc>cAc	p.R268H	TEAD4_ENST00000397122.2_Missense_Mutation_p.R139H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	268					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTGGACATCCGCCAAATCTAT	0.527													5	151					0	0	1	0	0	A	3131089	G	A	3131089	3	1	25	1	0	0	0	0	1	0	0	0	15800	1087	38	1	833	1	TEAD4	12	3131089	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		3131089	130720806	11	452											
DIS3L	115752	broad.mit.edu	37	15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr15:66607419G>A	ENST00000319194.5	+	7	872	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	287					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTCGAAACCGCTCAATTCAT	0.478													4	100					0	0	1	0	0	A	66607419	G	A	66607419	3	1	25	1	0	0	0	0	1	0	0	0	4564	1087	38	1	886	1	DIS3L	15	66607419	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		66607419	35923973	12	453											
FKBP8	23770	broad.mit.edu	37	19	18648510	18648510	+	Silent	SNP	C	C	T	rs146804732	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr19:18648510C>T	ENST00000597960.2	-	6	966	c.846G>A	c.(844-846)tcG>tcA	p.S282S	FKBP8_ENST00000222308.3_Silent_p.S282S|FKBP8_ENST00000544835.2_Silent_p.S122S|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000596558.1_Silent_p.S281S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	281					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTTCAGCTGCGAGGCCGCCA	0.617													22	62					0	0	1	0	0	T	18648510	C	T	18648510	2	4	25	1	0	0	0	0	0	0	0	1	5947	755	27	1		1	FKBP8	19	18648510	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		18648510	40480473	13	454											
PREX1	57580	broad.mit.edu	37	20	47444201	47444201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr20:47444201delC	ENST00000396220.1	-	1	219	c.197delG	c.(196-198)gcfs	p.G66fs	PREX1_ENST00000371941.3_Frame_Shift_Del_p.G66fs			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	66	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGCAAGGTGCCCACGTAGTC	0.716													2	4	---	---	---	---						-	47444201	C	-	47444201	7	5	25	1	0	1	0	1	0	0	0	0	12528	739	26	0	4942	0	PREX1	20	47444201	Frame_Shift_Del	DEL	C	TCGA-QR-A6H6-01A-11D-A35D-08		47444201	15581319	14	455											
DNASE2B	58511	broad.mit.edu	37	1	84878060	84878060	+	Silent	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:84878060C>T	ENST00000370665.3	+	5	609	c.576C>T	c.(574-576)aaC>aaT	p.N192N	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	192					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCAACCCCAACGTCTATAGCT	0.478													15	34					0	0	1	0	0	T	84878060	C	T	84878060	2	4	26	1	0	0	0	0	0	0	0	1	4692	535	19	1		1	DNASE2B	1	84878060	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		84878060	164372561	1	456											
RGS8	85397	broad.mit.edu	37	1	182635109	182635109	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:182635109T>C	ENST00000483095.2	-	5	445	c.188A>G	c.(187-189)cAt>cGt	p.H63R	RGS8_ENST00000367556.1_Missense_Mutation_p.H63R|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	63	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTTACACTTATGAGAGAGAAG	0.393													4	112					0	0	1	0	0	C	182635109	T	C	182635109	3	2	26	1	0	0	0	0	1	0	0	0	13362	1464	51	4	366	4	RGS8	1	182635109	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08	97757049	182635109	66615512	2	457											
ALK	238	broad.mit.edu	37	2	29551323	29551323	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr2:29551323G>A	ENST00000389048.3	-	6	2213	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	436					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A436V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTCTGCAGGGCCATCTTGGA	0.592			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	31					0	0	1	0	0	A	29551323	G	A	29551323	3	1	26	1	0	0	0	0	1	0	0	0	521	1203	42	3	3651	3	ALK	2	29551323	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08		29551323	213648050	3	458											
CACNA2D3	55799	broad.mit.edu	37	3	54871235	54871235	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:54871235T>C	ENST00000474759.1	+	15	1496	c.1448T>C	c.(1447-1449)gTg>gCg	p.V483A	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	483	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCCATGCCTGTGTTTAGTAAG	0.542													4	76					0	0	1	0	0	C	54871235	T	C	54871235	3	2	26	1	0	0	0	0	1	0	0	0	2568	1696	59	4	1506	4	CACNA2D3	3	54871235	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		54871235	143151195	4	459											
YEATS2	55689	broad.mit.edu	37	3	183504057	183504057	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:183504057G>A	ENST00000305135.5	+	20	3076	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	961					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCCCCTGCCGTGGCCCTCTC	0.517													3	31					0	0	1	0	0	A	183504057	G	A	183504057	3	1	26	1	0	0	0	0	1	0	0	0	17532	1145	40	1	2955	1	YEATS2	3	183504057	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08	128632822	183504057	14518373	5	460											
PRMT10	90826	broad.mit.edu	37	4	148575325	148575325	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr4:148575325C>T	ENST00000322396.6	-	9	1965	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	575						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATGTTCTGTACAGTATTACTC	0.448													5	52					0	0	1	0	0	T	148575325	C	T	148575325	3	4	26	1	0	0	0	0	1	0	0	0	12588	478	17	3	830	3	PRMT10	4	148575325	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		148575325	42578951	6	461											
PCDHB4	0	broad.mit.edu	37	5	140501812	140501812	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:140501812C>T	ENST00000194152.1	+	1	232	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCTGGATCGTCAGACTGG	0.552													19	26					0	0	1	0	0	T	140501812	C	T	140501812	3	4	26	1	0	0	0	0	1	0	0	0	11591	884	31	2	234	2	PCDHB4	5	140501812	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		140501812	40413448	7	462											
MXD3	83463	broad.mit.edu	37	5	176737513	176737513	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:176737513G>A	ENST00000427908.2	-	4	302	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	MXD3_ENST00000439742.2_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000513063.1_Missense_Mutation_p.R79W	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	79	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCAGCCGCTCCAGGCAC	0.692													5	9					0	0	1	0	0	A	176737513	G	A	176737513	3	1	26	1	0	0	0	0	1	0	0	0	10048	1086	38	1	478	1	MXD3	5	176737513	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08	36235701	176737513	4177747	8	463											
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr6:123786033delA	ENST00000546248.1	-	9	1022	c.889delT	c.(889-891)ctfs	p.S297fs	RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388													2	4	---	---	---	---						-	123786033	A	-	123786033	7	5	26	1	0	1	0	1	0	0	0	0	16529	261	9	0		0	TRDN	6	123786033	Frame_Shift_Del	DEL	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		123786033	47329034	9	464											
PAPSS2	9060	broad.mit.edu	37	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473													4	131					0	0	1	0	0	T	89472868	C	T	89472868	3	4	26	1	0	0	0	0	1	0	0	0	11482	739	26	3	192	3	PAPSS2	10	89472868	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		89472868	46061879	10	465											
MMS19	64210	broad.mit.edu	37	10	99220451	99220451	+	Splice_Site	DEL	C	C	-			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:99220451delC	ENST00000438925.2	-	25	2805		c.e25+1		MMS19_ENST00000327238.10_Splice_Site|MMS19_ENST00000355839.6_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000370782.2_Splice_Site	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAAGGACGTACCCGGGCTGTA	0.493								Direct reversal of damage					2	4	---	---	---	---						-	99220451	C	-	99220451	8	5	26	1	0	1	0	1	0	0	1	0	9721	521	18	0	650	0	MMS19	10	99220451	Splice_Site	DEL	C	TCGA-QR-A6ZZ-01A-11D-A35D-08	9747583	99220451	36314296	11	466											
DENND5A	23258	broad.mit.edu	37	11	9225671	9225671	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:9225671T>C	ENST00000328194.3	-	4	805	c.485A>G	c.(484-486)gAt>gGt	p.D162G	DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	162										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTAGGACATCATACTCAGC	0.507													3	25					0	0	1	0	0	C	9225671	T	C	9225671	3	2	26	1	0	0	0	0	1	0	0	0	4464	1435	50	4	3458	4	DENND5A	11	9225671	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		9225671	125780845	12	467											
PC	5091	broad.mit.edu	37	11	66638898	66638898	+	Silent	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:66638898C>T	ENST00000393960.1	-	6	656	c.375G>A	c.(373-375)gcG>gcA	p.A125A	PC_ENST00000393955.2_Silent_p.A125A|PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393958.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	125	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCGAAGTCCGCTCGCTCAG	0.632													17	72					0	0	1	0	0	T	66638898	C	T	66638898	2	4	26	1	0	0	0	0	0	0	0	1	11544	639	23	2		2	PC	11	66638898	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08	57413227	66638898	68367618	13	468											
VEZT	55591	broad.mit.edu	37	12	95660174	95660174	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr12:95660174T>G	ENST00000436874.1	+	5	581	c.476T>G	c.(475-477)aTg>aGg	p.M159R	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.M111R	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	159						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTGCTCGTTATGCTTCCCACT	0.408													96	106					0	0	1	0	0	G	95660174	T	G	95660174	3	3	26	1	0	0	0	0	1	0	0	0	17216	1464	51	5	494	5	VEZT	12	95660174	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		95660174	38191721	14	469											
POTEG	404785	broad.mit.edu	37	14	19553785	19553785	+	Silent	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:19553785C>T	ENST00000409832.3	+	1	421	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	123										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGAGACTACGACGACAGCG	0.592													5	576					0	0	1	0	0	T	19553785	C	T	19553785	2	4	26	1	0	0	0	0	0	0	0	1	12313	547	19	1		1	POTEG	14	19553785	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		19553785	87795755	15	470											
C14orf28	122525	broad.mit.edu	37	14	45369991	45369991	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:45369991A>G	ENST00000325192.3	+	2	628	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	118										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAACAGCAATACAAATCTGAA	0.323													3	40					0	0	1	0	0	G	45369991	A	G	45369991	3	3	26	1	0	0	0	0	1	0	0	0	1776	391	14	4	355	4	C14orf28	14	45369991	Missense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08	25816206	45369991	61979549	16	471											
OR4F6	390648	broad.mit.edu	37	15	102346304	102346304	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr15:102346304A>T	ENST00000328882.4	+	1	403	c.382A>T	c.(382-384)Aag>Tag	p.K128*		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGCCATATGTAAGCCTCTCCA	0.448													51	138					0	0	1	0	0	T	102346304	A	T	102346304	4	4	26	1	0	0	0	0	0	1	0	0	11114	363	13	5	384	5	OR4F6	15	102346304	Nonsense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		102346304	185088	17	472											
ACACA	31	broad.mit.edu	37	17	35627724	35627724	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr17:35627724A>G	ENST00000353139.5	-	10	1518	c.1037T>C	c.(1036-1038)aTg>aCg	p.M346T	ACACA_ENST00000394406.2_Missense_Mutation_p.M309T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000335166.5_Missense_Mutation_p.M231T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCCTTGATCATTACTGGATA	0.398													12	85					0	0	1	0	0	G	35627724	A	G	35627724	3	3	26	1	0	0	0	0	1	0	0	0	106	217	8	4	6302	4	ACACA	17	35627724	Missense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		35627724	45567486	18	473											
CXorf22	170063	broad.mit.edu	37	X	35989875	35989875	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:35989875T>A	ENST00000297866.5	+	12	2209	c.2143T>A	c.(2143-2145)Tct>Act	p.S715T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	715										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGAGGAAGAGTCTGTGAGAAG	0.383													18	27					0	0	1	0	0	A	35989875	T	A	35989875	3	1	26	1	0	0	0	0	1	0	0	0	4125	1667	58	5	2189	5	CXorf22	23	35989875	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		35989875	119280685	19	474											
KDM5C	8242	broad.mit.edu	37	X	53231143	53231143	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:53231143T>C	ENST00000452825.3	-	11	2090	c.1558A>G	c.(1558-1560)Aac>Gac	p.N520D	KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.N587D	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	587	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCACACTGGTTTGTGCGGACA	0.478			"N, F, S"		clear cell renal carcinoma								10	36					0	0	1	0	0	C	53231143	T	C	53231143	3	2	26	1	0	0	0	0	1	0	0	0	8178	1841	64	4	3077	4	KDM5C	23	53231143	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08	17241268	53231143	102039417	20	475											
ARHGEF10L	55160	broad.mit.edu	37	1	17930054	17930054	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:17930054T>G	ENST00000361221.3	+	6	560	c.401T>G	c.(400-402)gTc>gGc	p.V134G	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	134					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TATGACGACGTCCCCTGCGAG	0.617													9	13					0	0	1	0	0	G	17930054	T	G	17930054	3	3	27	1	0	0	0	0	1	0	0	0	892	1667	58	5	419	5	ARHGEF10L	1	17930054	Missense_Mutation	SNP	T	TCGA-QR-A702-01A-11D-A35D-08		17930054	231320567	1	476											
PQLC2	54896	broad.mit.edu	37	1	19644309	19644309	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:19644309T>G	ENST00000375153.3	+	2	778	c.138T>G	c.(136-138)atT>atG	p.I46M	PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M|PQLC2_ENST00000400548.2_Intron	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	46	PQ-loop 1.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCTCCATTCTCTGCTTTG	0.617													27	153					0	0	1	0	0	G	19644309	T	G	19644309	3	3	27	1	0	0	0	0	1	0	0	0	12468	1771	62	5	140	5	PQLC2	1	19644309	Missense_Mutation	SNP	T	TCGA-QR-A702-01A-11D-A35D-08	1714255	19644309	229606312	2	477											
ZNF131	7690	broad.mit.edu	37	5	43174694	43174694	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr5:43174694A>G	ENST00000509634.1	+	7	1685	c.1229A>G	c.(1228-1230)aAt>aGt	p.N410S	ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N444S			P52739	ZN131_HUMAN	zinc finger protein 131	444						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GATGCTCACAATATTTCAGAG	0.378													3	54					0	0	1	0	0	G	43174694	A	G	43174694	3	3	27	1	0	0	0	0	1	0	0	0	17779	101	4	4	1255	4	ZNF131	5	43174694	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		43174694	137740566	3	478											
EIF3B	8662	broad.mit.edu	37	7	2412395	2412395	+	Missense_Mutation	SNP	A	A	G	rs150678614		TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:2412395A>G	ENST00000360876.4	+	12	1831	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	592					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGTCTTTCTACCACGTCAAA	0.483													4	30					0	0	1	0	0	G	2412395	A	G	2412395	3	3	27	1	0	0	0	0	1	0	0	0	5039	391	14	4	1821	4	EIF3B	7	2412395	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		2412395	156726268	4	479											
CRHR2	1395	broad.mit.edu	37	7	30695314	30695314	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:30695314G>C	ENST00000471646.1	-	10	1352	c.935C>G	c.(934-936)aCc>aGc	p.T312S	CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S|CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	312					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCACCAGGGTGGCCTTCAC	0.622													47	66					0	0	1	0	0	C	30695314	G	C	30695314	3	2	27	1	0	0	0	0	1	0	0	0	3895	1261	44	5	312	5	CRHR2	7	30695314	Missense_Mutation	SNP	G	TCGA-QR-A702-01A-11D-A35D-08	28282919	30695314	128443349	5	480											
MGAM	8972	broad.mit.edu	37	7	141764301	141764301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:141764301delC	ENST00000475668.2	+	37	4517	c.4463delC	c.(4462-4464)tcfs	p.S1488fs	MGAM_ENST00000549489.2_Frame_Shift_Del_p.S1488fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1488	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGGGTGGTCCCAGACCAGA	0.552													2	4	---	---	---	---						-	141764301	C	-	141764301	7	5	27	1	0	1	0	1	0	0	0	0	9591	855	30	0	4605	0	MGAM	7	141764301	Frame_Shift_Del	DEL	C	TCGA-QR-A702-01A-11D-A35D-08	111068987	141764301	17374362	6	481											
PIK3C2A	5286	broad.mit.edu	37	11	17170220	17170220	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr11:17170220A>C	ENST00000265970.7	-	4	1441	c.1442T>G	c.(1441-1443)cTg>cGg	p.L481R	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	481					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTACTTCTGCAGCACTTCCTC	0.323													3	28					0	0	1	0	0	C	17170220	A	C	17170220	3	2	27	1	0	0	0	0	1	0	0	0	11957	188	7	5	3734	5	PIK3C2A	11	17170220	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		17170220	117836296	7	482											
SPTB	6710	broad.mit.edu	37	14	65220494	65220494	+	Silent	SNP	C	C	T			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr14:65220494C>T	ENST00000389722.3	-	32	6416	c.6363G>A	c.(6361-6363)acG>acA	p.T2121T	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Silent_p.T2121T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTGAGGCCACGTTCCCTCTT	0.592													4	55					0	0	1	0	0	T	65220494	C	T	65220494	2	4	27	1	0	0	0	0	0	0	0	1	15174	523	19	1		1	SPTB	14	65220494	Silent	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		65220494	42129046	8	483											
BCAR1	9564	broad.mit.edu	37	16	75263909	75263909	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr16:75263909C>T	ENST00000546196.1	-	7	3678	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K|BCAR1_ENST00000162330.5_Missense_Mutation_p.E705K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667													20	19					0	0	1	0	0	T	75263909	C	T	75263909	3	4	27	1	0	0	0	0	1	0	0	0	1346	835	29	3	503	3	BCAR1	16	75263909	Missense_Mutation	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		75263909	15090844	9	484											
RTN4RL1	146760	broad.mit.edu	37	17	1839884	1839884	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:1839884C>T	ENST00000331238.5	-	2	1250	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	411					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCTGGGGGCACGGATGGGGGT	0.672													3	1					0	0	1	0	0	T	1839884	C	T	1839884	3	4	27	1	0	0	0	0	1	0	0	0	13783	536	19	1	97	1	RTN4RL1	17	1839884	Missense_Mutation	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		1839884	79355326	10	485											
NF1	4763	broad.mit.edu	37	17	29552214	29552215	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:29552214_29552215insG	ENST00000358273.4	+	17	2330_2331	c.1947_1948insG	c.(1945-1950)gatactfs	p.DT649fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.DT649fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	649					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATGAAGAATTACTACGTAC	0.421			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			45	12	---	---	---	---						G	29552215	-	G	29552214	7	5	27	1	0	1	1	0	0	0	0	0	10403	98	4	0	2074	0	NF1	17	29552214	Frame_Shift_Ins	INS	-	TCGA-QR-A702-01A-11D-A35D-08	27712330	29552214	51642996	11	486											
MXRA5	25878	broad.mit.edu	37	X	3238548	3238548	+	Silent	SNP	G	G	A			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chrX:3238548G>A	ENST00000217939.6	-	5	5332	c.5178C>T	c.(5176-5178)tcC>tcT	p.S1726S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1726						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCTTCCATTGGAATAATGAG	0.463													13	26					0	0	1	0	0	A	3238548	G	A	3238548	2	1	27	1	0	0	0	0	0	0	0	1	10051	1335	47	3		3	MXRA5	23	3238548	Silent	SNP	G	TCGA-QR-A702-01A-11D-A35D-08		3238548	152032012	12	487											
PTCH2	8643	broad.mit.edu	37	1	45288335	45288335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:45288335G>A	ENST00000447098.2	-	22	3375	c.3364C>T	c.(3364-3366)Cag>Tag	p.Q1122*	PTCH2_ENST00000372192.3_Nonsense_Mutation_p.Q1122*	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1122					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTGTACATCTGTATCACCTGT	0.622									Basal Cell Nevus syndrome				4	82					0	0	1	0	0	A	45288335	G	A	45288335	4	1	28	1	0	0	0	0	0	1	0	0	12780	1386	48	3	271	3	PTCH2	1	45288335	Nonsense_Mutation	SNP	G	TCGA-QR-A703-01A-11D-A35D-08		45288335	203962286	1	488											
NASP	4678	broad.mit.edu	37	1	46073584	46073584	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:46073584T>G	ENST00000350030.3	+	6	1088	c.1001T>G	c.(1000-1002)gTa>gGa	p.V334G	NASP_ENST00000537798.1_Missense_Mutation_p.V270G|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.V336G	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	334	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAACAACTGGTAGGTCAAGAA	0.542													3	41					0	0	1	0	0	G	46073584	T	G	46073584	3	3	28	1	0	0	0	0	1	0	0	0	10220	1638	57	5	1100	5	NASP	1	46073584	Missense_Mutation	SNP	T	TCGA-QR-A703-01A-11D-A35D-08	785249	46073584	203177037	2	489											
ZC3H6	376940	broad.mit.edu	37	2	113089358	113089358	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr2:113089358G>A	ENST00000409871.1	+	12	3264	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	955							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGACTCACACGGTTCAGGAGC	0.393													3	25					0	0	1	0	0	A	113089358	G	A	113089358	3	1	28	1	0	0	0	0	1	0	0	0	17630	1116	39	2	2909	2	ZC3H6	2	113089358	Missense_Mutation	SNP	G	TCGA-QR-A703-01A-11D-A35D-08		113089358	130110015	3	490											
AGBL2	79841	broad.mit.edu	37	11	47712201	47712201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:47712201C>T	ENST00000525123.1	-	10	1343	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	353					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCTCTCCTCCAGCCAATATT	0.453													22	20					0	0	1	0	0	T	47712201	C	T	47712201	4	4	28	1	0	0	0	0	0	1	0	0	373	595	21	3	1690	3	AGBL2	11	47712201	Nonsense_Mutation	SNP	C	TCGA-QR-A703-01A-11D-A35D-08		47712201	87294315	4	491											
SPTBN2	6712	broad.mit.edu	37	11	66475224	66475224	+	Silent	SNP	C	C	T	rs145249947	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:66475224C>T	ENST00000533211.1	-	13	1747	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	472					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACGATGTCCGTCTCAATGG	0.672													5	67					0	0	1	0	0	T	66475224	C	T	66475224	2	4	28	1	0	0	0	0	0	0	0	1	15176	639	23	2		2	SPTBN2	11	66475224	Silent	SNP	C	TCGA-QR-A703-01A-11D-A35D-08	18763023	66475224	68531292	5	492											
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453													3	27					0	0	1	0	0	C	89392753	A	C	89392753	1	2	28	0	1	0	0	0	0	0	0	0	6013	203	7	5		5	FOLH1B	11	89392753	RNA	SNP	A	TCGA-QR-A703-01A-11D-A35D-08	22917529	89392753	45613763	6	493											
PABPN1	8106	broad.mit.edu	37	14	23791016	23791016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr14:23791016delC	ENST00000397276.2	+	1	351	c.338delC	c.(337-339)gcfs	p.A113fs	BCL2L2-PABPN1_ENST00000557008.1_Intron|PABPN1_ENST00000556821.1_5'UTR|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.A113fs					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGACGGCGCCATTGAGGAC	0.771													2	4	---	---	---	---						-	23791016	C	-	23791016	7	5	28	1	0	1	0	1	0	0	0	0	11415	739	26	0	340	0	PABPN1	14	23791016	Frame_Shift_Del	DEL	C	TCGA-QR-A703-01A-11D-A35D-08		23791016	83558524	7	494											
HOMER3	0	broad.mit.edu	37	19	19042905	19042906	+	Frame_Shift_Del	DEL	GA	GA	-	rs80104014	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr19:19042905_19042906delGA	ENST00000539827.1	-	6	1221_1222	c.569_570delTC	c.(568-570)tfs	p.F190fs	HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	190					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CCTGCAGTGCGAAAAACTCGGC	0.688													2	4	---	---	---	---						-	19042906	GA	-	19042905	7	5	28	1	0	1	0	1	0	0	0	0	7321	1049	37	0	531	0	HOMER3	19	19042905	Frame_Shift_Del	DEL	GA	TCGA-QR-A703-01A-11D-A35D-08		19042905	40086078	8	495											
SSTR3	0	broad.mit.edu	37	22	37602845	37602845	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr22:37602845C>T	ENST00000328544.3	-	2	1531	c.998G>A	c.(997-999)cGc>cAc	p.R333H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	333					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.R333H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCGCACACGGCGGGAGGGCCG	0.667													5	43					0	0	1	0	0	T	37602845	C	T	37602845	3	4	28	1	0	0	0	0	1	0	0	0	15255	768	27	1	262	1	SSTR3	22	37602845	Missense_Mutation	SNP	C	TCGA-QR-A703-01A-11D-A35D-08		37602845	13701721	9	496											
PLCL1	5334	broad.mit.edu	37	2	198948751	198948751	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr2:198948751A>G	ENST00000428675.1	+	2	908	c.510A>G	c.(508-510)aaA>aaG	p.K170K	PLCL1_ENST00000437704.2_Silent_p.K72K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	170	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACTGGGGAAAAACACGGAAA	0.463													5	65					0	0	1	0	0	G	198948751	A	G	198948751	2	3	29	1	0	0	0	0	0	0	0	1	12087	11	1	4		4	PLCL1	2	198948751	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		198948751	44250622	1	497											
APEH	327	broad.mit.edu	37	3	49717042	49717042	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr3:49717042A>G	ENST00000296456.5	+	13	1575	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	APEH_ENST00000438011.1_Missense_Mutation_p.D392G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	392					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTGCTGTGGACACCCAAGTG	0.612													3	59					0	0	1	0	0	G	49717042	A	G	49717042	3	3	29	1	0	0	0	0	1	0	0	0	764	275	10	4	1225	4	APEH	3	49717042	Missense_Mutation	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		49717042	148305388	2	498											
RGS12	6002	broad.mit.edu	37	4	3441319	3441319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr4:3441319delG	ENST00000344733.5	+	18	5156	c.4252delG	c.(4252-4254)ggfs	p.G1418fs	RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1418						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCAGTGGTGGGCCTCCTAC	0.667													7	20	---	---	---	---						-	3441319	G	-	3441319	7	5	29	1	0	1	0	1	0	0	0	0	13345	1348	47	0	4393	0	RGS12	4	3441319	Frame_Shift_Del	DEL	G	TCGA-QR-A705-01A-11D-A35D-08		3441319	187712957	3	499											
MBLAC2	153364	broad.mit.edu	37	5	89770075	89770076	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:89770075_89770076delAG	ENST00000316610.6	-	1	509_510	c.34_35delCT	c.(34-36)afs	p.L12fs	MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	12							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						ACCATCGCCTAGAGACTTGTGG	0.619													9	23	---	---	---	---						-	89770076	AG	-	89770075	7	5	29	1	0	1	0	1	0	0	0	0	9402	420	15	0	812	0	MBLAC2	5	89770075	Frame_Shift_Del	DEL	AG	TCGA-QR-A705-01A-11D-A35D-08		89770075	91145185	4	500											
KIAA0141	9812	broad.mit.edu	37	5	141309157	141309157	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:141309157A>G	ENST00000432126.2	+	5	557	c.423A>G	c.(421-423)caA>caG	p.Q141Q	KIAA0141_ENST00000194118.4_Silent_p.Q141Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	141					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCGACAACACATCCTCC	0.632													4	60					0	0	1	0	0	G	141309157	A	G	141309157	2	3	29	1	0	0	0	0	0	0	0	1	8198	40	2	4		4	KIAA0141	5	141309157	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08	51539082	141309157	39606103	5	501											
SLC17A1	6568	broad.mit.edu	37	6	25799051	25799051	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:25799051G>T	ENST00000244527.4	-	12	1481	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	456					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCAGTCCTGAATTTCTGCT	0.428													4	83					0.014758	0.014758	1	1	0	T	25799051	G	T	25799051	3	4	29	1	0	0	0	0	1	0	0	0	14471	1299	45	5	41	5	SLC17A1	6	25799051	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		25799051	145316016	6	502											
ABCC10	89845	broad.mit.edu	37	6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:43415432G>A	ENST00000244533.3	+	16	3991	c.3632G>A	c.(3631-3633)gGc>gAc	p.G1211D	ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGGCACCGGCTGGCTGACC	0.632													6	308					0	0	1	0	0	A	43415432	G	A	43415432	3	1	29	1	0	0	0	0	1	0	0	0	50	1203	42	3	3694	3	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08	17616381	43415432	127699635	7	503											
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													5	329					0	0	1	0	0	A	112522827	G	A	112522827	3	1	29	1	0	0	0	0	1	0	0	0	8647	971	34	3	5126	3	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08	69107395	112522827	58592240	8	504											
HEATR2	54919	broad.mit.edu	37	7	803452	803452	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr7:803452A>G	ENST00000297440.6	+	8	1644	c.1624A>G	c.(1624-1626)Acg>Gcg	p.T542A	HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	542							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGCACAGGAGACGATGGACTC	0.607													33	55					0	0	1	0	0	G	803452	A	G	803452	3	3	29	1	0	0	0	0	1	0	0	0	7069	275	10	4	1654	4	HEATR2	7	803452	Missense_Mutation	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		803452	158335211	9	505											
FBXO32	114907	broad.mit.edu	37	8	124526522	124526522	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr8:124526522G>C	ENST00000517956.1	-	5	615	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	142										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTTCTTTTGGGCGATGCCA	0.443													9	20					0	0	1	0	0	C	124526522	G	C	124526522	3	2	29	1	0	0	0	0	1	0	0	0	5775	1357	47	5	663	5	FBXO32	8	124526522	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		124526522	21837500	10	506											
PRUNE2	158471	broad.mit.edu	37	9	79267432	79267432	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:79267432C>T	ENST00000428286.1	-	11	8647	c.7447G>A	c.(7447-7449)Gat>Aat	p.D2483N	PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N|PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2842N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000466266.2_5'UTR			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2842					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTTCATCGGGGGTATCA	0.393													8	173					0	0	1	0	0	T	79267432	C	T	79267432	3	4	29	1	0	0	0	0	1	0	0	0	12690	884	31	2	778	2	PRUNE2	9	79267432	Missense_Mutation	SNP	C	TCGA-QR-A705-01A-11D-A35D-08		79267432	61945999	11	507											
PTGS1	5742	broad.mit.edu	37	9	125145882	125145882	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:125145882T>C	ENST00000362012.2	+	8	862	c.857T>C	c.(856-858)gTg>gCg	p.V286A	PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A|PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	286					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CAGATGGCTGTGGGCCAGGAG	0.617													21	40					0	0	1	0	0	C	125145882	T	C	125145882	3	2	29	1	0	0	0	0	1	0	0	0	12805	1696	59	4	887	4	PTGS1	9	125145882	Missense_Mutation	SNP	T	TCGA-QR-A705-01A-11D-A35D-08	45878450	125145882	16067549	12	508											
TOR1A	1861	broad.mit.edu	37	9	132576411	132576411	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:132576411C>A	ENST00000351698.4	-	5	887	c.839G>T	c.(838-840)tGt>tTt	p.C280F		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	280					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CACTCGGATACACATTTTTAG	0.453													4	173					3.59834e-05	3.73673e-05	1	1	0	A	132576411	C	A	132576411	3	1	29	1	0	0	0	0	1	0	0	0	16432	478	17	5	163	5	TOR1A	9	132576411	Missense_Mutation	SNP	C	TCGA-QR-A705-01A-11D-A35D-08	7430529	132576411	8637020	13	509											
ZEB1	6935	broad.mit.edu	37	10	31812941	31812941	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr10:31812941G>T	ENST00000446923.2	+	8	3025	c.2634G>T	c.(2632-2634)aaG>aaT	p.K878N	ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N|ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000320985.10_Missense_Mutation_p.K894N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	894					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGCCCAAAAAGAAAATGCGGA	0.378													12	108					1.08611e-07	1.22187e-07	1	1	0	T	31812941	G	T	31812941	3	4	29	1	0	0	0	0	1	0	0	0	17681	933	33	5	2726	5	ZEB1	10	31812941	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		31812941	103721806	14	510											
SERPINB2	5055	broad.mit.edu	37	18	61565020	61565020	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr18:61565020A>G	ENST00000457692.1	+	6	810	c.477A>G	c.(475-477)ctA>ctG	p.L159L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.L159L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	159					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TAGACTTCCTAGAATGTGCAG	0.338													33	59					0	0	1	0	0	G	61565020	A	G	61565020	2	3	29	1	0	0	0	0	0	0	0	1	14155	407	15	4		4	SERPINB2	18	61565020	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		61565020	16512228	15	511											
KAL1	3730	broad.mit.edu	37	X	8536370	8536370	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chrX:8536370A>G	ENST00000262648.3	-	8	1259	c.1110T>C	c.(1108-1110)taT>taC	p.Y370Y		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	370	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATTCCACAACATAGTCACAGT	0.443													4	48					0	0	1	0	0	G	8536370	A	G	8536370	2	3	29	1	0	0	0	0	0	0	0	1	8018	224	8	4		4	KAL1	23	8536370	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		8536370	146734190	16	512											
CAMTA1	23261	broad.mit.edu	37	1	7725039	7725039	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:7725039G>A	ENST00000303635.7	+	9	2639	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGGGCGCGGGCCCCCTTC	0.687			T	WWTR1	epitheliod hemangioendothelioma								6	160					0	0	1	0	0	A	7725039	G	A	7725039	3	1	30	1	0	0	0	0	1	0	0	0	2631	1116	39	2	2466	2	CAMTA1	1	7725039	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		7725039	241525582	1	513											
GBA	2629	broad.mit.edu	37	1	155207218	155207218	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:155207218G>A	ENST00000428024.2	-	6	1154	c.652C>T	c.(652-654)Cct>Tct	p.P218S	GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000368373.3_Missense_Mutation_p.P305S|GBA_ENST00000427500.2_Missense_Mutation_p.P256S|GBA_ENST00000327247.5_Missense_Mutation_p.P305S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	305					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCGAGGGTAGGACCTAGGTCA	0.572									Gaucher disease type I				14	40					0	0	1	0	0	A	155207218	G	A	155207218	3	1	30	1	0	0	0	0	1	0	0	0	6306	1174	41	3	717	3	GBA	1	155207218	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	147482179	155207218	94043403	2	514											
LEPREL1	55214	broad.mit.edu	37	3	189704595	189704595	+	Silent	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr3:189704595C>A	ENST00000319332.5	-	6	1367	c.1170G>T	c.(1168-1170)ggG>ggT	p.G390G	LEPREL1_ENST00000427335.2_Silent_p.G209G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	390					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTATGAAAACCCCAGACCTT	0.353													10	173					7.03913e-09	7.82125e-09	1	1	0	A	189704595	C	A	189704595	2	1	30	1	0	0	0	0	0	0	0	1	8769	494	18	5		5	LEPREL1	3	189704595	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		189704595	8317835	3	515											
HTT	3064	broad.mit.edu	37	4	3214432	3214432	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr4:3214432T>G	ENST00000355072.5	+	49	6915	c.6770T>G	c.(6769-6771)cTt>cGt	p.L2257R		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2257					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCAACCCTTGAGGTAAGA	0.527													4	62					0	0	1	0	0	G	3214432	T	G	3214432	3	3	30	1	0	0	0	0	1	0	0	0	7501	1609	56	5	6964	5	HTT	4	3214432	Missense_Mutation	SNP	T	TCGA-QR-A706-01A-11D-A35D-08		3214432	187939844	4	516											
BDP1	55814	broad.mit.edu	37	5	70818186	70818186	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr5:70818186A>G	ENST00000358731.4	+	23	5325	c.5062A>G	c.(5062-5064)Aat>Gat	p.N1688D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1688					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGCTAAGCCAAATTTGGGAAG	0.383													4	174					0	0	1	0	0	G	70818186	A	G	70818186	3	3	30	1	0	0	0	0	1	0	0	0	1393	14	1	4	5152	4	BDP1	5	70818186	Missense_Mutation	SNP	A	TCGA-QR-A706-01A-11D-A35D-08		70818186	110097074	5	517											
HIST1H2BD	3017	broad.mit.edu	37	6	26158564	26158564	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr6:26158564C>G	ENST00000289316.2	+	1	191	c.167C>G	c.(166-168)tCt>tGt	p.S56C	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	56					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCGGCATCTCTTCCAAGGCA	0.567													4	223					0	0	1	0	0	G	26158564	C	G	26158564	3	3	30	1	0	0	0	0	1	0	0	0	7184	913	32	5	169	5	HIST1H2BD	6	26158564	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		26158564	144956503	6	518											
AP4M1	9179	broad.mit.edu	37	7	99701079	99701079	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr7:99701079C>T	ENST00000429084.1	+	5	578	c.420C>T	c.(418-420)ttC>ttT	p.F140F	AP4M1_ENST00000359593.4_Silent_p.F133F|AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000421755.1_Silent_p.F133F			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	133					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGAATTTCATCCAGACGG	0.517													4	93					0	0	1	0	0	T	99701079	C	T	99701079	2	4	30	1	0	0	0	0	0	0	0	1	749	825	29	3		3	AP4M1	7	99701079	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		99701079	59437584	7	519											
OR1J1	347168	broad.mit.edu	37	9	125239396	125239396	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr9:125239396C>T	ENST00000259357.2	-	1	839	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAATTATGTTCTTGTCATTGG	0.418													4	166					0	0	1	0	0	T	125239396	C	T	125239396	2	4	30	1	0	0	0	0	0	0	0	1	11007	912	32	3		3	OR1J1	9	125239396	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		125239396	15974035	8	520											
AGAP11	119385	broad.mit.edu	37	10	88767683	88767683	+	RNA	DEL	A	A	-	rs72036564		TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr10:88767683delA	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAGAAAATGTATCtttttttt	0.413													2	4	---	---	---	---						-	88767683	A	-	88767683	6	5	30	0	1	1	0	1	0	0	0	0	366	464	16	0		0	AGAP11	10	88767683	RNA	DEL	A	TCGA-QR-A706-01A-11D-A35D-08		88767683	46767064	9	521											
RASGRP2	10235	broad.mit.edu	37	11	64494798	64494798	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:64494798A>T	ENST00000377494.1	-	15	2731	c.1809T>A	c.(1807-1809)gaT>gaA	p.D603E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000354024.3_Missense_Mutation_p.D602E			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	602					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAACACCCCATCCTCCACCG	0.592													4	80					0	0	1	0	0	T	64494798	A	T	64494798	3	4	30	1	0	0	0	0	1	0	0	0	13127	214	8	5	27	5	RASGRP2	11	64494798	Missense_Mutation	SNP	A	TCGA-QR-A706-01A-11D-A35D-08		64494798	70511718	10	522											
ADAMTS8	11095	broad.mit.edu	37	11	130297993	130297993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:130297993delG	ENST00000257359.6	-	1	895	c.189delC	c.(187-189)ggfs	p.G63fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	63					negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGCACGAAGCCCTTGCCGA	0.776													2	4	---	---	---	---						-	130297993	G	-	130297993	7	5	30	1	0	1	0	1	0	0	0	0	271	958	34	0	2516	0	ADAMTS8	11	130297993	Frame_Shift_Del	DEL	G	TCGA-QR-A706-01A-11D-A35D-08	65803195	130297993	4708523	11	523											
CACNA2D4	93589	broad.mit.edu	37	12	2017138	2017138	+	Silent	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr12:2017138G>A	ENST00000382722.5	-	5	914	c.552C>T	c.(550-552)ggC>ggT	p.G184G	CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000586184.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000588077.1_Silent_p.G120G|CACNA2D4_ENST00000587995.1_Silent_p.G184G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	184						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGAACTCGGCGCCCAGCTCCA	0.602													4	68					0	0	1	0	0	A	2017138	G	A	2017138	2	1	30	1	0	0	0	0	0	0	0	1	2569	1074	38	1		1	CACNA2D4	12	2017138	Silent	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		2017138	131834757	12	524											
OR4K15	81127	broad.mit.edu	37	14	20444562	20444562	+	Silent	SNP	T	T	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr14:20444562T>G	ENST00000305051.5	+	1	960	c.885T>G	c.(883-885)ctT>ctG	p.L295L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAAGTCCTTGCTGTATTCT	0.418													4	133					0	0	1	0	0	G	20444562	T	G	20444562	2	3	30	1	0	0	0	0	0	0	0	1	11118	1799	63	5		5	OR4K15	14	20444562	Silent	SNP	T	TCGA-QR-A706-01A-11D-A35D-08		20444562	86904978	13	525											
TRPM1	4308	broad.mit.edu	37	15	31342749	31342749	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr15:31342749C>A	ENST00000542188.1	-	11	1664	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S|TRPM1_ENST00000256552.6_Missense_Mutation_p.A434S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	412					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTCCGTGGCTTTGCTGTCC	0.557													3	39					0.115264	0.115264	1	1	0	A	31342749	C	A	31342749	3	1	30	1	0	0	0	0	1	0	0	0	16646	797	28	5	3645	5	TRPM1	15	31342749	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		31342749	71188643	14	526											
PRKCB	5579	broad.mit.edu	37	16	24104120	24104120	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:24104120G>T	ENST00000303531.7	+	6	690	c.538G>T	c.(538-540)Gct>Tct	p.A180S	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.A180S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	180	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGTAAGAGATGCTAAAAACCT	0.418													5	115					0.000602214	0.00062298	1	1	0	T	24104120	G	T	24104120	3	4	30	1	0	0	0	0	1	0	0	0	12560	1319	46	5	560	5	PRKCB	16	24104120	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		24104120	66250633	15	527											
DBNDD1	79007	broad.mit.edu	37	16	90072754	90072754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:90072754delG	ENST00000392973.3	-	3	1215	c.484delC	c.(484-486)agfs	p.Q162fs	DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs|DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000002501.6_Frame_Shift_Del_p.Q156fs			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	156						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		TAGTCCTCCTGGGGCCTCTCC	0.637													2	4	---	---	---	---						-	90072754	G	-	90072754	7	5	30	1	0	1	0	1	0	0	0	0	4277	1357	47	0	14	0	DBNDD1	16	90072754	Frame_Shift_Del	DEL	G	TCGA-QR-A706-01A-11D-A35D-08	65968634	90072754	281999	16	528											
ABCA9	10350	broad.mit.edu	37	17	66982411	66982411	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:66982411G>A	ENST00000340001.4	-	32	4313	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1368	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTCCTGAGGGCAGTACCCC	0.537													18	56					0	0	1	0	0	A	66982411	G	A	66982411	3	1	30	1	0	0	0	0	1	0	0	0	39	1232	43	3	804	3	ABCA9	17	66982411	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		66982411	14212799	17	529											
C17orf80	55028	broad.mit.edu	37	17	71232433	71232433	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:71232433C>T	ENST00000359042.2	+	3	1006	c.812C>T	c.(811-813)cCa>cTa	p.P271L	C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P271L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	271						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTGAGACTCCAGAAAAGAAC	0.413													3	32					0	0	1	0	0	T	71232433	C	T	71232433	3	4	30	1	0	0	0	0	1	0	0	0	1895	594	21	3	814	3	C17orf80	17	71232433	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08	4250022	71232433	9962777	18	530											
MAP1S	55201	broad.mit.edu	37	19	17831773	17831773	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:17831773C>T	ENST00000324096.4	+	2	298	c.147C>T	c.(145-147)ggC>ggT	p.G49G	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.G23G	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	49	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCGATCCTGGCGTCTGCAACC	0.572													10	176					0	0	1	0	0	T	17831773	C	T	17831773	2	4	30	1	0	0	0	0	0	0	0	1	9284	755	27	1		1	MAP1S	19	17831773	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		17831773	41297210	19	531											
ZNF599	148103	broad.mit.edu	37	19	35251041	35251041	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:35251041G>A	ENST00000329285.7	-	4	1038	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTTCACTCCAGCATGAATCTG	0.478													4	180					0	0	1	0	0	A	35251041	G	A	35251041	3	1	30	1	0	0	0	0	1	0	0	0	18086	971	34	3	1105	3	ZNF599	19	35251041	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	17419268	35251041	23877942	20	532											
SIPA1L3	23094	broad.mit.edu	37	19	38643532	38643532	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:38643532G>C	ENST00000222345.6	+	13	4095	c.3586G>C	c.(3586-3588)Gat>Cat	p.D1196H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1196					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCAGCCACGATGGGACGTC	0.632													5	137					0	0	1	0	0	C	38643532	G	C	38643532	3	2	30	1	0	0	0	0	1	0	0	0	14386	1058	37	5	3628	5	SIPA1L3	19	38643532	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	3392491	38643532	20485451	21	533											
RFPL1	5988	broad.mit.edu	37	22	29837976	29837976	+	Silent	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY.						zinc ion binding	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468													4	63					3.59834e-05	3.85536e-05	1	1	0	A	29837976	C	A	29837976	2	1	30	1	0	0	0	0	0	0	0	1	13305	900	32	5		5	RFPL1	22	29837976	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		29837976	21466590	22	534											
DMC1	11144	broad.mit.edu	37	22	38916082	38916082	+	Silent	SNP	A	A	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:38916082A>T	ENST00000216024.2	-	14	1242	c.966T>A	c.(964-966)ccT>ccA	p.P322P	DMC1_ENST00000428462.2_Silent_p.P267P	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	322					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTTCATTTTCAGGCATCTCAG	0.403								Homologous recombination					3	53					0	0	1	0	0	T	38916082	A	T	38916082	2	4	30	1	0	0	0	0	0	0	0	1	4607	175	7	5		5	DMC1	22	38916082	Silent	SNP	A	TCGA-QR-A706-01A-11D-A35D-08	9078106	38916082	12388484	23	535											
TRO	7216	broad.mit.edu	37	X	54949634	54949634	+	Silent	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:54949634G>A	ENST00000173898.7	+	3	781	c.669G>A	c.(667-669)tcG>tcA	p.S223S	TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Silent_p.S223S|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	223					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCGAGGTCTCGCTGGCTGCAA	0.522													3	28					0	0	1	0	0	A	54949634	G	A	54949634	2	1	30	1	0	0	0	0	0	0	0	1	16635	1074	38	1		1	TRO	23	54949634	Silent	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		54949634	100320926	24	536											
ATP7A	538	broad.mit.edu	37	X	77258626	77258626	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:77258626C>G	ENST00000341514.6	+	6	1755	c.1600C>G	c.(1600-1602)Cct>Gct	p.P534A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	534	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGGTATAATCCTGCTGTTAT	0.393													9	313					0	0	1	0	0	G	77258626	C	G	77258626	3	3	30	1	0	0	0	0	1	0	0	0	1188	855	30	5	1618	5	ATP7A	23	77258626	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08	22308992	77258626	78011934	25	537											
MTM1	4534	broad.mit.edu	37	X	149807485	149807485	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:149807485G>A	ENST00000370396.2	+	7	568	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	172	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGGAAGAATACAGGAG	0.353													4	141					0	0	1	0	0	A	149807485	G	A	149807485	3	1	30	1	0	0	0	0	1	0	0	0	9985	943	33	3	536	3	MTM1	23	149807485	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	72548859	149807485	5463075	26	538											
KCNT2	343450	broad.mit.edu	37	1	196254823	196254823	+	Silent	SNP	C	C	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr1:196254823C>A	ENST00000367433.5	-	22	2690	c.2589G>T	c.(2587-2589)gtG>gtT	p.V863V	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.V887V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.V813V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	887						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGATGCTAAACACCCTCCCAG	0.353													4	43					0.150653	0.150653	1	1	0	A	196254823	C	A	196254823	2	1	31	1	0	0	0	0	0	0	0	1	8136	465	17	5		5	KCNT2	1	196254823	Silent	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		196254823	52995798	1	539											
FAHD2A	51011	broad.mit.edu	37	2	96072903	96072903	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:96072903C>A	ENST00000233379.4	+	3	613	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	154							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						ACCACAGAGCCAGGTCAGTGT	0.582													4	64					1.23904e-05	1.39392e-05	1	1	0	A	96072903	C	A	96072903	3	1	31	1	0	0	0	0	1	0	0	0	5404	595	21	5	466	5	FAHD2A	2	96072903	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		96072903	147126470	2	540											
TTN	7273	broad.mit.edu	37	2	179397305	179397305	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:179397305C>G	ENST00000589042.1	-	358	104261	c.104037G>C	c.(104035-104037)gaG>gaC	p.E34679D	TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33038D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33038							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACGCAGCCTCTCTTCCTCTG	0.458													5	139					0	0	1	0	0	G	179397305	C	G	179397305	3	3	31	1	0	0	0	0	1	0	0	0	16797	912	32	5	3962	5	TTN	2	179397305	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	83324402	179397305	63802068	3	541											
CAND2	23066	broad.mit.edu	37	3	12851594	12851594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:12851594delC	ENST00000456430.2	+	5	569	c.528delC	c.(526-528)ctfs	p.L177fs	CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	177					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGCCAGCCTCCTGCACTGTC	0.751													2	4	---	---	---	---						-	12851594	C	-	12851594	7	5	31	1	0	1	0	1	0	0	0	0	2634	842	30	0	546	0	CAND2	3	12851594	Frame_Shift_Del	DEL	C	TCGA-QR-A707-01A-11D-A35D-08		12851594	185170836	4	542											
SLC15A2	6565	broad.mit.edu	37	3	121647372	121647372	+	Silent	SNP	T	T	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:121647372T>A	ENST00000489711.1	+	15	1699	c.1311T>A	c.(1309-1311)tcT>tcA	p.S437S	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Silent_p.S406S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	437					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAAACAATTCTCTGTTGATAG	0.428													5	89					0	0	1	0	0	A	121647372	T	A	121647372	2	1	31	1	0	0	0	0	0	0	0	1	14454	1538	54	5		5	SLC15A2	3	121647372	Silent	SNP	T	TCGA-QR-A707-01A-11D-A35D-08	108795778	121647372	76375058	5	543											
CD180	4064	broad.mit.edu	37	5	66479625	66479625	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr5:66479625T>A	ENST00000256447.4	-	3	1203	c.1046A>T	c.(1045-1047)cAc>cTc	p.H349L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	349					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GATGTAGAGGTGTGTAAGGGA	0.423													17	144					0	0	1	0	0	A	66479625	T	A	66479625	3	1	31	1	0	0	0	0	1	0	0	0	2994	1696	59	5	943	5	CD180	5	66479625	Missense_Mutation	SNP	T	TCGA-QR-A707-01A-11D-A35D-08		66479625	114435635	6	544											
ZNF184	7738	broad.mit.edu	37	6	27419847	27419847	+	Silent	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:27419847C>T	ENST00000211936.6	-	6	1775	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	ZNF184_ENST00000377419.1_Silent_p.T497T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTTTTCTCTCGTGTGAATTC	0.393													4	66					0	0	1	0	0	T	27419847	C	T	27419847	2	4	31	1	0	0	0	0	0	0	0	1	17809	871	31	2		2	ZNF184	6	27419847	Silent	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		27419847	143695220	7	545											
MUC21	394263	broad.mit.edu	37	6	30954121	30954121	+	Missense_Mutation	SNP	G	G	A	rs137862032		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:30954121G>A	ENST00000376296.3	+	2	410	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	57	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGTGGGGTCAGCACAGC	0.567													9	166					0	0	1	0	0	A	30954121	G	A	30954121	3	1	31	1	0	0	0	0	1	0	0	0	10025	1261	44	3	175	3	MUC21	6	30954121	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08	3534274	30954121	140160946	8	546											
LACE1	246269	broad.mit.edu	37	6	108840904	108840904	+	Missense_Mutation	SNP	G	G	A	rs141756676	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:108840904G>A	ENST00000368977.4	+	12	1394	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	403							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTTCAGGTGCGTATAATTTGC	0.353													20	52					0	0	1	0	0	A	108840904	G	A	108840904	3	1	31	1	0	0	0	0	1	0	0	0	8634	1145	40	1	1254	1	LACE1	6	108840904	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08	77886783	108840904	62274163	9	547											
LIPJ	142910	broad.mit.edu	37	10	90365406	90365406	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr10:90365406A>T	ENST00000371939.3	+	10	1126	c.812A>T	c.(811-813)cAt>cTt	p.H271L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	271					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AATTCTACTCATTTGAAAGCT	0.338													4	80					0	0	1	0	0	T	90365406	A	T	90365406	3	4	31	1	0	0	0	0	1	0	0	0	8867	217	8	5	842	5	LIPJ	10	90365406	Missense_Mutation	SNP	A	TCGA-QR-A707-01A-11D-A35D-08		90365406	45169341	10	548											
ZZEF1	23140	broad.mit.edu	37	17	3981268	3981268	+	Silent	SNP	G	G	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:3981268G>A	ENST00000381638.2	-	19	3022	c.2898C>T	c.(2896-2898)tcC>tcT	p.S966S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	966							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCTTGGACGGACCAGAACA	0.547													3	45					0	0	1	0	0	A	3981268	G	A	3981268	2	1	31	1	0	0	0	0	0	0	0	1	18295	1103	39	2		2	ZZEF1	17	3981268	Silent	SNP	G	TCGA-QR-A707-01A-11D-A35D-08		3981268	77213942	11	549											
SLC13A5	284111	broad.mit.edu	37	17	6589585	6589585	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:6589585C>T	ENST00000433363.2	-	12	1881	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	550						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCAAATATGGCCCGTCCCCAG	0.473													3	48					0	0	1	0	0	T	6589585	C	T	6589585	3	4	31	1	0	0	0	0	1	0	0	0	14450	739	26	3	62	3	SLC13A5	17	6589585	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	2608317	6589585	74605625	12	550											
HIC2	23119	broad.mit.edu	37	22	21800664	21800664	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr22:21800664C>T	ENST00000443632.2	+	2	1852	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	494					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCTGTCAGCACCCAGTGCGGC	0.642													20	24					0	0	1	0	0	T	21800664	C	T	21800664	3	4	31	1	0	0	0	0	1	0	0	0	7143	507	18	3	1486	3	HIC2	22	21800664	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		21800664	29503902	13	551											
NXF3	56000	broad.mit.edu	37	X	102339403	102339403	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:102339403G>A	ENST00000395065.3	-	3	319	c.218C>T	c.(217-219)cCc>cTc	p.P73L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	73						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGATTATAGGGTGAAATAGT	0.438													12	98					0	0	1	0	0	A	102339403	G	A	102339403	3	1	31	1	0	0	0	0	1	0	0	0	10833	1232	43	3	1445	3	NXF3	23	102339403	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08		102339403	52931157	14	552											
PLXNA3	55558	broad.mit.edu	37	X	153695647	153695647	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:153695647C>T	ENST00000369682.3	+	19	3449	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGCCTCGGGCGCAAGG	0.617													33	41					0	0	1	0	0	T	153695647	C	T	153695647	3	4	31	1	0	0	0	0	1	0	0	0	12169	875	31	2	3344	2	PLXNA3	23	153695647	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	51356244	153695647	1574913	15	553											
ZC3H12A	80149	broad.mit.edu	37	1	37948042	37948042	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:37948042C>T	ENST00000373087.6	+	5	942	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	276					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGTTTATGCCCCCTGATGA	0.592													4	106					0	0	1	0	0	T	37948042	C	T	37948042	3	4	32	1	0	0	0	0	1	0	0	0	17620	739	26	3	840	3	ZC3H12A	1	37948042	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		37948042	211302579	1	554											
OR6Y1	391112	broad.mit.edu	37	1	158517139	158517139	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:158517139C>T	ENST00000302617.3	-	1	756	c.757G>A	c.(757-759)Gta>Ata	p.V253I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGAATTACGACGGTCAGG	0.507													8	61					0	0	1	0	0	T	158517139	C	T	158517139	3	4	32	1	0	0	0	0	1	0	0	0	11260	536	19	1	222	1	OR6Y1	1	158517139	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	120569097	158517139	90733482	2	555											
IL19	29949	broad.mit.edu	37	1	207014409	207014409	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:207014409G>A	ENST00000270218.6	+	6	1363	c.424G>A	c.(424-426)Gac>Aac	p.D142N	IL19_ENST00000340758.2_Missense_Mutation_p.D180N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	142					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTCATCCATGACAACTATGA	0.512													10	29					0	0	1	0	0	A	207014409	G	A	207014409	3	1	32	1	0	0	0	0	1	0	0	0	7693	1290	45	3	556	3	IL19	1	207014409	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	48497270	207014409	42236212	3	556											
PPIG	9360	broad.mit.edu	37	2	170492941	170492945	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:170492941_170492945delAAAAG	ENST00000260970.3	+	14	1393_1397	c.1173_1177delAAAAG	c.(1171-1179)ataafs	p.IKE391fs	PPIG_ENST00000409714.3_Frame_Shift_Del_p.IKE376fs|PPIG_ENST00000448752.2_Frame_Shift_Del_p.IKE391fs|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	391					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGAATGAAATAAAAGAAAATCAGAG	0.288													24	63	---	---	---	---						-	170492945	AAAAG	-	170492941	7	5	32	1	0	1	0	1	0	0	0	0	12373	352	13	0	1219	0	PPIG	2	170492941	Frame_Shift_Del	DEL	AAAAG	TCGA-QR-A708-01A-11D-A35D-08		170492941	72706432	4	557											
TTN	7273	broad.mit.edu	37	2	179469737	179469737	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:179469737C>T	ENST00000589042.1	-	280	54391	c.54167G>A	c.(54166-54168)cGa>cAa	p.R18056Q	TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN_ENST00000591111.1_Missense_Mutation_p.R16415Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16415	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACATTTCGGAACACTGA	0.438													79	116					0	0	1	0	0	T	179469737	C	T	179469737	3	4	32	1	0	0	0	0	1	0	0	0	16797	884	31	2	53858	2	TTN	2	179469737	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	8976796	179469737	63729636	5	558											
LAMB2	3913	broad.mit.edu	37	3	49160646	49160646	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160646G>T	ENST00000418109.1	-	27	4307	c.4143C>A	c.(4141-4143)agC>agA	p.S1381R	LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATGTGTTTGCTGTTGAAGT	0.562													38	25					1.38162e-09	1.60567e-09	1	1	0	T	49160646	G	T	49160646	3	4	32	1	0	0	0	0	1	0	0	0	8650	1310	46	5	1281	5	LAMB2	3	49160646	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		49160646	148861784	6	559	4	2									
LAMB2	3913	broad.mit.edu	37	3	49160648	49160648	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160648T>A	ENST00000418109.1	-	27	4305	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGTGTTTGCTGTTGAAGTCC	0.557													37	25					0	0	1	0	0	A	49160648	T	A	49160648	3	1	32	1	0	0	0	0	1	0	0	0	8650	1580	55	5	1283	5	LAMB2	3	49160648	Missense_Mutation	SNP	T	TCGA-QR-A708-01A-11D-A35D-08	2	49160648	148861782	7	560	4	2									
CGGBP1	8545	broad.mit.edu	37	3	88104673	88104673	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:88104673G>T	ENST00000398392.2	-	1	1786	c.454C>A	c.(454-456)Cct>Act	p.P152T	CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TATCCATCAGGAAGATATGCC	0.448													7	72					5.18039e-06	5.71171e-06	1	1	0	T	88104673	G	T	88104673	3	4	32	1	0	0	0	0	1	0	0	0	3324	1174	41	5	53	5	CGGBP1	3	88104673	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	38944025	88104673	109917757	8	561											
PHLDB2	90102	broad.mit.edu	37	3	111603238	111603238	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:111603238T>C	ENST00000431670.2	+	2	725	c.314T>C	c.(313-315)aTg>aCg	p.M105T	PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	105						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATATTCCTATGAAACCTCCA	0.463													142	117					0	0	1	0	0	C	111603238	T	C	111603238	3	2	32	1	0	0	0	0	1	0	0	0	11900	1464	51	4	401	4	PHLDB2	3	111603238	Missense_Mutation	SNP	T	TCGA-QR-A708-01A-11D-A35D-08	23498565	111603238	86419192	9	562											
PRKCI	5584	broad.mit.edu	37	3	169993051	169993051	+	Silent	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:169993051G>A	ENST00000295797.4	+	8	986	c.681G>A	c.(679-681)ttG>ttA	p.L227L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	227	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGAGAGTTTGGATCAAGTTG	0.289													7	162					0	0	1	0	0	A	169993051	G	A	169993051	2	1	32	1	0	0	0	0	0	0	0	1	12566	1339	47	3		3	PRKCI	3	169993051	Silent	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	58389813	169993051	28029379	10	563											
VCP	7415	broad.mit.edu	37	9	35060506	35060506	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr9:35060506G>A	ENST00000358901.6	-	13	2394	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	500					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAATTTGTCTGGGTGCTCCAC	0.453													15	37					0	0	1	0	0	A	35060506	G	A	35060506	3	1	32	1	0	0	0	0	1	0	0	0	17200	1348	47	3	941	3	VCP	9	35060506	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		35060506	106152925	11	564											
OR9G4	283189	broad.mit.edu	37	11	56511186	56511186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr11:56511186delT	ENST00000302957.3	-	1	101	c.102delA	c.(100-102)gcfs	p.A34fs		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACTGGGAATCTGCTGAGAAAC	0.433													7	64	---	---	---	---						-	56511186	T	-	56511186	7	5	32	1	0	1	0	1	0	0	0	0	11298	1567	55	0	884	0	OR9G4	11	56511186	Frame_Shift_Del	DEL	T	TCGA-QR-A708-01A-11D-A35D-08		56511186	78495330	12	565											
A2M	2	broad.mit.edu	37	12	9256869	9256869	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr12:9256869G>C	ENST00000318602.7	-	11	1539	c.1232C>G	c.(1231-1233)aCc>aGc	p.T411S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	411					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AACATTGGTGGTGTTGATAGA	0.403													3	23					0	0	1	0	0	C	9256869	G	C	9256869	3	2	32	1	0	0	0	0	1	0	0	0	4	1261	44	5	3296	5	A2M	12	9256869	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		9256869	124595026	13	566											
FAM179B	23116	broad.mit.edu	37	14	45523651	45523651	+	Silent	SNP	A	A	G			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr14:45523651A>G	ENST00000361462.2	+	16	4641	c.4458A>G	c.(4456-4458)ccA>ccG	p.P1486P	FAM179B_ENST00000361577.3_Silent_p.P1433P|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1433							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGAGATACCATTAGATACTC	0.323													17	59					0	0	1	0	0	G	45523651	A	G	45523651	2	3	32	1	0	0	0	0	0	0	0	1	5536	204	8	4		4	FAM179B	14	45523651	Silent	SNP	A	TCGA-QR-A708-01A-11D-A35D-08		45523651	61825889	14	567											
TRPM1	4308	broad.mit.edu	37	15	31362169	31362169	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr15:31362169C>A	ENST00000559179.1	-	3	411	c.278G>T	c.(277-279)aGc>aTc	p.S93I	TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000397795.2_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1378					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGTTTGGGGCTGGGAGACTG	0.463													5	290					0.000602214	0.00064738	1	1	0	A	31362169	C	A	31362169	3	1	32	1	0	0	0	0	1	0	0	0	16646	812	28	5		5	TRPM1	15	31362169	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		31362169	71169223	15	568											
NEDD4	4734	broad.mit.edu	37	15	56142797	56142797	+	Silent	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr15:56142797C>T	ENST00000508342.1	-	10	2846	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000435532.3_Silent_p.R430R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGGTGCATGCCGGACTTCCC	0.453													4	194					0	0	1	0	0	T	56142797	C	T	56142797	2	4	32	1	0	0	0	0	0	0	0	1	10357	726	26	3		3	NEDD4	15	56142797	Silent	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	24780628	56142797	46388595	16	569											
TELO2	9894	broad.mit.edu	37	16	1551468	1551468	+	Silent	SNP	C	C	G			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr16:1551468C>G	ENST00000262319.6	+	10	1608	c.1329C>G	c.(1327-1329)ccC>ccG	p.P443P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	443						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCCTCCCCCCAGCCTGCGG	0.701													9	5					0	0	1	0	0	G	1551468	C	G	1551468	2	3	32	1	0	0	0	0	0	0	0	1	15816	610	22	5		5	TELO2	16	1551468	Silent	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		1551468	88803285	17	570											
KRTAP4-2	85291	broad.mit.edu	37	17	39334038	39334038	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:39334038G>A	ENST00000377726.2	-	1	422	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	127	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTTGGGCGGCAGCAGGTG	0.582													40	89					0	0	1	0	0	A	39334038	G	A	39334038	3	1	32	1	0	0	0	0	1	0	0	0	8594	1116	39	2	35	2	KRTAP4-2	17	39334038	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		39334038	41861172	18	571											
OSBPL7	114881	broad.mit.edu	37	17	45894036	45894036	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:45894036G>C	ENST00000007414.3	-	10	1012	c.821C>G	c.(820-822)cCc>cGc	p.P274R	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	274					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGACAGGTTGGGAACAGAGCC	0.652													4	31					0	0	1	0	0	C	45894036	G	C	45894036	3	2	32	1	0	0	0	0	1	0	0	0	11329	1232	43	5	1763	5	OSBPL7	17	45894036	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	6559998	45894036	35301174	19	572											
SLC25A23	79085	broad.mit.edu	37	19	6454709	6454709	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:6454709C>A	ENST00000301454.4	-	5	609	c.503G>T	c.(502-504)tGc>tTc	p.C168F	SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	168					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CACTGTCAGGCACTCGCCAAT	0.582													24	63					3.28513e-13	4.15472e-13	1	1	0	A	6454709	C	A	6454709	3	1	32	1	0	0	0	0	1	0	0	0	14541	710	25	5	927	5	SLC25A23	19	6454709	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		6454709	52674274	20	573											
ZNF99	7652	broad.mit.edu	37	19	22940079	22940079	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:22940079C>A	ENST00000397104.3	-	6	2251	c.2252G>T	c.(2251-2253)tGt>tTt	p.C751F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGCTTTGCCACATTCTTCACA	0.343													20	64					1.56452e-12	1.92213e-12	1	1	0	A	22940079	C	A	22940079	3	1	32	1	0	0	0	0	1	0	0	0	18246	478	17	5	868	5	ZNF99	19	22940079	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	16485370	22940079	36188904	21	574											
CST5	1473	broad.mit.edu	37	20	23860252	23860252	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr20:23860252C>A	ENST00000304710.4	-	1	135	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	21						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CGAGGCACTCCCGGCCACGGC	0.597													29	59					4.59853e-10	5.49269e-10	1	1	0	A	23860252	C	A	23860252	3	1	32	1	0	0	0	0	1	0	0	0	4000	623	22	5	378	5	CST5	20	23860252	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		23860252	39165268	22	575											
AADACL4	343066	broad.mit.edu	37	1	12726517	12726517	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:12726517T>A	ENST00000376221.1	+	4	995	c.995T>A	c.(994-996)gTc>gAc	p.V332D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	332						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATGATGAGGTCATCGCTCAG	0.507													32	116					0	0	1	0	0	A	12726517	T	A	12726517	3	1	33	1	0	0	0	0	1	0	0	0	13	1667	58	5	1009	5	AADACL4	1	12726517	Missense_Mutation	SNP	T	TCGA-QR-A70A-01A-11D-A35D-08		12726517	236524104	1	576											
OR2L2	26246	broad.mit.edu	37	1	248202163	248202163	+	Silent	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:248202163G>A	ENST00000366479.2	+	1	690	c.594G>A	c.(592-594)gtG>gtA	p.V198V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGAGCACAGTGTTTTTGAGCA	0.478													4	131					0	0	1	0	0	A	248202163	G	A	248202163	2	1	33	1	0	0	0	0	0	0	0	1	11055	1364	48	3		3	OR2L2	1	248202163	Silent	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	235475646	248202163	1048458	2	577											
KCMF1	56888	broad.mit.edu	37	2	85276609	85276609	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr2:85276609C>T	ENST00000409785.3	+	6	1081	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	241						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CGGCAGCATGCCCAGGCAGCA	0.552													5	60					0	0	1	0	0	T	85276609	C	T	85276609	3	4	33	1	0	0	0	0	1	0	0	0	8044	739	26	3	744	3	KCMF1	2	85276609	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		85276609	157922764	3	578											
GPR128	84873	broad.mit.edu	37	3	100413790	100413790	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr3:100413790C>G	ENST00000273352.3	+	16	2607	c.2339C>G	c.(2338-2340)cCg>cGg	p.P780R	GPR128_ENST00000475887.1_Missense_Mutation_p.P485R|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	780					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P780L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAACCTCTCCGAGTACTGAG	0.443													11	64					0	0	1	0	0	G	100413790	C	G	100413790	3	3	33	1	0	0	0	0	1	0	0	0	6681	652	23	5	2401	5	GPR128	3	100413790	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		100413790	97608640	4	579											
ANKHD1	54882	broad.mit.edu	37	5	139908666	139908666	+	Silent	SNP	T	T	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr5:139908666T>G	ENST00000297183.6	+	29	6259	c.6135T>G	c.(6133-6135)tcT>tcG	p.S2045S	ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|ANKHD1_ENST00000360839.2_Silent_p.S2045S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCCCATCTTCAACTGCAA	0.512													19	32					0	0	1	0	0	G	139908666	T	G	139908666	2	3	33	1	0	0	0	0	0	0	0	1	624	1596	56	5		5	ANKHD1	5	139908666	Silent	SNP	T	TCGA-QR-A70A-01A-11D-A35D-08		139908666	41006594	5	580											
RNF8	9025	broad.mit.edu	37	6	37328329	37328329	+	Silent	SNP	A	A	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:37328329A>G	ENST00000373479.4	+	2	412	c.219A>G	c.(217-219)caA>caG	p.Q73Q	RNF8_ENST00000394443.4_Silent_p.Q73Q|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Silent_p.Q73Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	73	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTGAGGGCCAATGGACAATTA	0.368													14	64					0	0	1	0	0	G	37328329	A	G	37328329	2	3	33	1	0	0	0	0	0	0	0	1	13552	98	4	4		4	RNF8	6	37328329	Silent	SNP	A	TCGA-QR-A70A-01A-11D-A35D-08		37328329	133786738	6	581											
COL12A1	1303	broad.mit.edu	37	6	75799877	75799877	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:75799877G>A	ENST00000322507.8	-	63	9199	c.8890C>T	c.(8890-8892)Cgg>Tgg	p.R2964W	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2964	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGCCTGGCCGCCCCCCAGGC	0.617													8	168					0	0	1	0	0	A	75799877	G	A	75799877	3	1	33	1	0	0	0	0	1	0	0	0	3692	1086	38	1	317	1	COL12A1	6	75799877	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	38471548	75799877	95315190	7	582											
KCNMA1	3778	broad.mit.edu	37	10	78943220	78943220	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:78943220G>A	ENST00000286627.5	-	5	1719	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	256					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAACACGGGGGGCACCGTGAA	0.458													3	56					0	0	1	0	0	A	78943220	G	A	78943220	3	1	33	1	0	0	0	0	1	0	0	0	8117	1232	43	3	3211	3	KCNMA1	10	78943220	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		78943220	56591527	8	583											
FGFR2	2263	broad.mit.edu	37	10	123245036	123245036	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:123245036C>T	ENST00000358487.5	-	16	2340	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ATTAACACCCCGAAGGACCAG	0.512		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				8	55					0	0	1	0	0	T	123245036	C	T	123245036	3	4	33	1	0	0	0	0	1	0	0	0	5899	652	23	2	513	2	FGFR2	10	123245036	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	44301816	123245036	12289711	9	584											
DTX4	23220	broad.mit.edu	37	11	58959666	58959666	+	Silent	SNP	A	A	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr11:58959666A>G	ENST00000227451.3	+	6	1421	c.1317A>G	c.(1315-1317)agA>agG	p.R439R	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	439					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGCTGTCCAGATGCGGCCACG	0.592													23	120					0	0	1	0	0	G	58959666	A	G	58959666	2	3	33	1	0	0	0	0	0	0	0	1	4823	330	12	4		4	DTX4	11	58959666	Silent	SNP	A	TCGA-QR-A70A-01A-11D-A35D-08		58959666	76046850	10	585											
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr12:39735383C>T	ENST00000395670.3	-	14	2264	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398													3	55					0	0	1	0	0	T	39735383	C	T	39735383	2	4	33	1	0	0	0	0	0	0	0	1	8330	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		39735383	94116512	11	586											
ABCC4	10257	broad.mit.edu	37	13	95818472	95818472	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr13:95818472C>T	ENST00000376887.4	-	15	2088	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	658					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GAGACCAAACCGAAGACTCTG	0.453													11	133					0	0	1	0	0	T	95818472	C	T	95818472	2	4	33	1	0	0	0	0	0	0	0	1	55	639	23	2		2	ABCC4	13	95818472	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		95818472	19351406	12	587											
TEP1	7011	broad.mit.edu	37	14	20837625	20837625	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:20837625G>A	ENST00000262715.5	-	53	7574	c.7534C>T	c.(7534-7536)Cca>Tca	p.P2512S	TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2512					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGTTTCTGGAGTGTTTGCT	0.507													4	102					0	0	1	0	0	A	20837625	G	A	20837625	3	1	33	1	0	0	0	0	1	0	0	0	15818	1174	41	3	361	3	TEP1	14	20837625	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		20837625	86511915	13	588											
NYNRIN	57523	broad.mit.edu	37	14	24884876	24884876	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:24884876C>T	ENST00000382554.3	+	9	4239	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1307					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTCCACGTTCGTCTGCATCC	0.622													4	211					0	0	1	0	0	T	24884876	C	T	24884876	2	4	33	1	0	0	0	0	0	0	0	1	10844	883	31	2		2	NYNRIN	14	24884876	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	4047251	24884876	82464664	14	589											
ARNT2	9915	broad.mit.edu	37	15	80767549	80767549	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr15:80767549G>A	ENST00000533983.1	+	6	913	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.E203K|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	203	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGCACCTCAGAAAACTCAAT	0.507													18	71					0	0	1	0	0	A	80767549	G	A	80767549	3	1	33	1	0	0	0	0	1	0	0	0	965	943	33	3	625	3	ARNT2	15	80767549	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		80767549	21763843	15	590											
ADAM11	4185	broad.mit.edu	37	17	42854139	42854139	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr17:42854139C>T	ENST00000200557.6	+	19	1762	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	ADAM11_ENST00000535346.1_Silent_p.D331D	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	531	Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACAAGCTGGACGGTTACTACT	0.607													31	53					0	0	1	0	0	T	42854139	C	T	42854139	2	4	33	1	0	0	0	0	0	0	0	1	234	535	19	1		1	ADAM11	17	42854139	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		42854139	38341071	16	591											
ABHD8	79575	broad.mit.edu	37	19	17412054	17412054	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr19:17412054C>T	ENST00000247706.3	-	2	611	c.372G>A	c.(370-372)ccG>ccA	p.P124P	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	124							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGCTGCCCGCCGGATCTGCCA	0.746													3	29					0	0	1	0	0	T	17412054	C	T	17412054	2	4	33	1	0	0	0	0	0	0	0	1	87	639	23	2		2	ABHD8	19	17412054	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		17412054	41716929	17	592											
PQBP1	10084	broad.mit.edu	37	X	48759214	48759214	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:48759214C>A	ENST00000218224.4	+	3	441	c.187C>A	c.(187-189)Cct>Act	p.P63T	PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000376563.1_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	63	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAGCGGGCTCCCTTACTACTG	0.547													5	82					1.23904e-05	1.27444e-05	1	1	0	A	48759214	C	A	48759214	3	1	33	1	0	0	0	0	1	0	0	0	12466	623	22	5	197	5	PQBP1	23	48759214	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		48759214	106511346	18	593											
HUWE1	10075	broad.mit.edu	37	X	53570843	53570843	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:53570843G>A	ENST00000342160.3	-	72	11795	c.11338C>T	c.(11338-11340)Cgt>Tgt	p.R3780C	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3780					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R3670C(1)|p.R3780C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCCTCACGTACCATTTGT	0.557													19	21					0	0	1	0	0	A	53570843	G	A	53570843	3	1	33	1	0	0	0	0	1	0	0	0	7505	1145	40	1	1834	1	HUWE1	23	53570843	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	4811629	53570843	101699717	19	594											
ATRX	546	broad.mit.edu	37	X	76931778	76931778	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:76931778G>C	ENST00000373344.5	-	10	3966	c.3752C>G	c.(3751-3753)tCt>tGt	p.S1251C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1251					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CACTGATTTAGATAAGGCTTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						4	213					0	0	1	0	0	C	76931778	G	C	76931778	3	2	33	1	0	0	0	0	1	0	0	0	1206	942	33	5	3830	5	ATRX	23	76931778	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	23360935	76931778	78338782	20	595											
SLITRK4	139065	broad.mit.edu	37	X	142717979	142717979	+	Missense_Mutation	SNP	C	C	A	rs142699085	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:142717979C>A	ENST00000381779.4	-	2	1171	c.946G>T	c.(946-948)Gtt>Ttt	p.V316F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473													27	121					2.79863e-10	2.96326e-10	1	1	0	A	142717979	C	A	142717979	3	1	33	1	0	0	0	0	1	0	0	0	14799	536	19	5	1571	5	SLITRK4	23	142717979	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	65786201	142717979	12552581	21	596											
LGR6	59352	broad.mit.edu	37	1	202287753	202287753	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:202287753C>G	ENST00000367278.3	+	18	2411	c.2322C>G	c.(2320-2322)caC>caG	p.H774Q	LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q|LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	774						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGAGGCACGTGGCCTGGC	0.642													3	35					0	0	1	0	0	G	202287753	C	G	202287753	3	3	34	1	0	0	0	0	1	0	0	0	8798	535	19	5	2539	5	LGR6	1	202287753	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		202287753	46962868	1	597											
OR2W3	343171	broad.mit.edu	37	1	248059477	248059477	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:248059477G>A	ENST00000537741.1	+	3	846	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	OR2W3_ENST00000360358.3_Missense_Mutation_p.G197S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATCGAAGGCACCGTCTT	0.597													6	106					0	0	1	0	0	A	248059477	G	A	248059477	3	1	34	1	0	0	0	0	1	0	0	0	11081	1000	35	3	591	3	OR2W3	1	248059477	Missense_Mutation	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08	45771724	248059477	1191144	2	598											
NFE2L2	4780	broad.mit.edu	37	2	178095651	178095651	+	Silent	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:178095651T>C	ENST00000397062.3	-	5	2234	c.1680A>G	c.(1678-1680)ttA>ttG	p.L560L	NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000397063.4_Silent_p.L544L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	560					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTCGAGATATAAGGTGCTGA	0.358			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			6	103					0	0	1	0	0	C	178095651	T	C	178095651	2	2	34	1	0	0	0	0	0	0	0	1	10415	1403	49	4		4	NFE2L2	2	178095651	Silent	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08		178095651	65103722	3	599											
INPP1	3628	broad.mit.edu	37	2	191231466	191231466	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:191231466C>G	ENST00000392329.2	+	5	1011	c.311C>G	c.(310-312)gCa>gGa	p.A104G	INPP1_ENST00000541441.1_Missense_Mutation_p.A104G|INPP1_ENST00000322522.4_Missense_Mutation_p.A104G	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	104					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GAGGAAACAGCAGAGCTTCTT	0.448													5	71					0	0	1	0	0	G	191231466	C	G	191231466	3	3	34	1	0	0	0	0	1	0	0	0	7795	710	25	5	321	5	INPP1	2	191231466	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	13135815	191231466	51967907	4	600											
ENAM	10117	broad.mit.edu	37	4	71500137	71500137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr4:71500137C>G	ENST00000396073.3	+	6	604	c.323C>G	c.(322-324)tCa>tGa	p.S108*		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	108					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGAAATCCTCAGCACCCAAA	0.522													19	100					0	0	1	0	0	G	71500137	C	G	71500137	4	3	34	1	0	0	0	0	0	1	0	0	5140	838	29	5	341	5	ENAM	4	71500137	Nonsense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		71500137	119654139	5	601											
IL6ST	3572	broad.mit.edu	37	5	55259298	55259298	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr5:55259298T>C	ENST00000381298.2	-	7	1007	c.695A>G	c.(694-696)aAc>aGc	p.N232S	IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	232	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTCCTCTGAGTTGATCACTGA	0.294			O		hepatocellular ca								12	41					0	0	1	0	0	C	55259298	T	C	55259298	3	2	34	1	0	0	0	0	1	0	0	0	7747	1725	60	4	2105	4	IL6ST	5	55259298	Missense_Mutation	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08		55259298	125655962	6	602											
KLHL7	55975	broad.mit.edu	37	7	23213904	23213904	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr7:23213904C>A	ENST00000322231.7	+	12	2172	c.1682C>A	c.(1681-1683)aCc>aAc	p.T561N	KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.T583N|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	583						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGAAGAGACCCTTGAAACA	0.408													20	35					1.28384e-07	1.38655e-07	1	1	0	A	23213904	C	A	23213904	3	1	34	1	0	0	0	0	1	0	0	0	8437	507	18	5	1853	5	KLHL7	7	23213904	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		23213904	135924759	7	603											
SDCCAG3	10807	broad.mit.edu	37	9	139302344	139302344	+	Silent	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr9:139302344T>C	ENST00000298537.7	-	3	478	c.267A>G	c.(265-267)agA>agG	p.R89R	SDCCAG3_ENST00000357365.3_Silent_p.R112R|SDCCAG3_ENST00000371725.3_Silent_p.R39R	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	112						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCAGAAACTCTCTAAAAGAGA	0.453													5	62					0	0	1	0	0	C	139302344	T	C	139302344	2	2	34	1	0	0	0	0	0	0	0	1	14012	1548	54	4		4	SDCCAG3	9	139302344	Silent	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08		139302344	1911087	8	604											
ZNF485	220992	broad.mit.edu	37	10	44112593	44112593	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr10:44112593A>G	ENST00000361807.3	+	5	1296	c.1102A>G	c.(1102-1104)Acc>Gcc	p.T368A	ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A|ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AAAGAGCTCAACCCTTACTGG	0.443													9	33					0	0	1	0	0	G	44112593	A	G	44112593	3	3	34	1	0	0	0	0	1	0	0	0	17995	43	2	4	1116	4	ZNF485	10	44112593	Missense_Mutation	SNP	A	TCGA-QR-A70C-01A-21D-A35D-08		44112593	91422154	9	605											
ANKK1	255239	broad.mit.edu	37	11	113268739	113268740	+	Splice_Site	DEL	GT	GT	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr11:113268739_113268740delGT	ENST00000303941.3	+	7	1088		c.e7+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ATGGACAGTGGTGAGTCTGGGT	0.599													2	4	---	---	---	---						-	113268740	GT	-	113268739	8	5	34	1	0	1	0	1	0	0	1	0	627	1275	44	0	1021	0	ANKK1	11	113268739	Splice_Site	DEL	GT	TCGA-QR-A70C-01A-21D-A35D-08		113268739	21737777	10	606											
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557													21	28					0	0	1	0	0	A	70048984	G	A	70048984	2	1	34	1	0	0	0	0	0	0	0	1	1404	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		70048984	63802911	11	607											
MYO1C	4641	broad.mit.edu	37	17	1381197	1381197	+	Silent	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:1381197G>A	ENST00000359786.5	-	13	1794	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I|MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000575158.1_Silent_p.I455I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	490	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATCGAGATGATGCCCTTAA	0.567													6	111					0	0	1	0	0	A	1381197	G	A	1381197	2	1	34	1	0	0	0	0	0	0	0	1	10118	1280	45	3		3	MYO1C	17	1381197	Silent	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		1381197	79814013	12	608											
CDK5RAP3	80279	broad.mit.edu	37	17	46053346	46053346	+	Silent	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:46053346C>T	ENST00000536708.2	+	8	949	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CDK5RAP3_ENST00000338399.4_Silent_p.L255L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	255					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GACCCCACCTCGAGGAGCTTC	0.602													3	28					0	0	1	0	0	T	46053346	C	T	46053346	2	4	34	1	0	0	0	0	0	0	0	1	3169	871	31	2		2	CDK5RAP3	17	46053346	Silent	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	44672149	46053346	35141864	13	609											
ZNF574	64763	broad.mit.edu	37	19	42584442	42584442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr19:42584442C>T	ENST00000600245.1	+	2	2339	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCTTTCACGCAAAGCTCCAC	0.632													5	74					0	0	1	0	0	T	42584442	C	T	42584442	4	4	34	1	0	0	0	0	0	1	0	0	18063	711	25	3	1686	3	ZNF574	19	42584442	Nonsense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		42584442	16544541	14	610											
LILRB5	0	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597													4	38					0	0	1	0	0	C	54754889	T	C	54754889	2	2	34	1	0	0	0	0	0	0	0	1	8834	1682	58	4		4	LILRB5	19	54754889	Silent	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08	12170447	54754889	4374094	15	611											
ZMYND8	23613	broad.mit.edu	37	20	45910870	45910870	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910870G>A	ENST00000311275.7	-	10	1167	c.914C>T	c.(913-915)gCc>gTc	p.A305V	ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAGAATCGGGCATCGACCTG	0.448													5	68					0	0	1	0	0	A	45910870	G	A	45910870	3	1	34	1	0	0	0	0	1	0	0	0	17769	1203	42	3	2648	3	ZMYND8	20	45910870	Missense_Mutation	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		45910870	17114650	16	612	5	2									
ZMYND8	23613	broad.mit.edu	37	20	45910871	45910871	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910871C>T	ENST00000311275.7	-	10	1166	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAGAATCGGGCATCGACCTGC	0.448													5	67					0	0	1	0	0	T	45910871	C	T	45910871	3	4	34	1	0	0	0	0	1	0	0	0	17769	710	25	3	2649	3	ZMYND8	20	45910871	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	1	45910871	17114649	17	613	5	2									
SCML2	10389	broad.mit.edu	37	X	18283726	18283726	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:18283726delT	ENST00000251900.4	-	8	1086	c.927delA	c.(925-927)aafs	p.K309fs	SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	309					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGTTTGGACCTTTTTTCCTTG	0.358													7	162	---	---	---	---						-	18283726	T	-	18283726	7	5	34	1	0	1	0	1	0	0	0	0	13964	1606	56	0	1207	0	SCML2	23	18283726	Frame_Shift_Del	DEL	T	TCGA-QR-A70C-01A-21D-A35D-08		18283726	136986834	18	614											
OGT	8473	broad.mit.edu	37	X	70756122	70756122	+	Silent	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:70756122C>T	ENST00000373719.3	+	2	349	c.132C>T	c.(130-132)tgC>tgT	p.C44C	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Silent_p.C34C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	44					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGAGACACTGCATGCAGCTCT	0.478													18	24					0	0	1	0	0	T	70756122	C	T	70756122	2	4	34	1	0	0	0	0	0	0	0	1	10895	718	25	3		3	OGT	23	70756122	Silent	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	52472396	70756122	84514438	19	615											
PLCD4	84812	broad.mit.edu	37	2	219483500	219483500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr2:219483500delC	ENST00000450993.2	+	4	719	c.380delC	c.(379-381)acfs	p.T127fs	PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	127					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATCTTGTCACCAGCATGGAC	0.602													2	4	---	---	---	---						-	219483500	C	-	219483500	7	5	35	1	0	1	0	1	0	0	0	0	12081	507	18	0	390	0	PLCD4	2	219483500	Frame_Shift_Del	DEL	C	TCGA-QR-A70D-01A-11D-A35D-08		219483500	23715873	1	616											
PIK3CB	5291	broad.mit.edu	37	3	138382751	138382751	+	Silent	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr3:138382751G>A	ENST00000477593.1	-	20	2866	c.2793C>T	c.(2791-2793)ggC>ggT	p.G931G	PIK3CB_ENST00000289153.2_Silent_p.G931G|PIK3CB_ENST00000544716.1_Silent_p.G382G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	931	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCTCACCTGGCCAGTTTTTT	0.433													3	22					0	0	1	0	0	A	138382751	G	A	138382751	2	1	35	1	0	0	0	0	0	0	0	1	11962	1190	42	3		3	PIK3CB	3	138382751	Silent	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		138382751	59639679	2	617											
RFX3	5991	broad.mit.edu	37	9	3263080	3263080	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr9:3263080G>A	ENST00000382004.3	-	14	1771	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	487					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACTTACAGCGGCAACCTGTAA	0.448													3	40					0	0	1	0	0	A	3263080	G	A	3263080	3	1	35	1	0	0	0	0	1	0	0	0	13316	1203	42	3	965	3	RFX3	9	3263080	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		3263080	137950351	3	618											
IPO8	10526	broad.mit.edu	37	12	30818753	30818753	+	Silent	SNP	A	A	G			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:30818753A>G	ENST00000256079.4	-	12	1586	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	IPO8_ENST00000544829.1_Silent_p.C211C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	416					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGATTTGATAACAGAATGCCA	0.378													17	26					0	0	1	0	0	G	30818753	A	G	30818753	2	3	35	1	0	0	0	0	0	0	0	1	7842	41	2	4		4	IPO8	12	30818753	Silent	SNP	A	TCGA-QR-A70D-01A-11D-A35D-08		30818753	103033142	4	619											
KCNH3	23416	broad.mit.edu	37	12	49938149	49938149	+	Silent	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:49938149C>T	ENST00000257981.6	+	7	1433	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	391					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCGAATCCGAGCTGCCTG	0.612													14	19					0	0	1	0	0	T	49938149	C	T	49938149	2	4	35	1	0	0	0	0	0	0	0	1	8077	639	23	2		2	KCNH3	12	49938149	Silent	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08	19119396	49938149	83913746	5	620											
BAZ2A	11176	broad.mit.edu	37	12	57009121	57009121	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:57009121T>C	ENST00000179765.5	-	3	606	c.407A>G	c.(406-408)cAt>cGt	p.H136R	BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.H138R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	138					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTTAGTGTTATGACTTGGGGA	0.547													5	41					0	0	1	0	0	C	57009121	T	C	57009121	3	2	35	1	0	0	0	0	1	0	0	0	1329	1464	51	4	5412	4	BAZ2A	12	57009121	Missense_Mutation	SNP	T	TCGA-QR-A70D-01A-11D-A35D-08	7070972	57009121	76842774	6	621											
AHNAK2	113146	broad.mit.edu	37	14	105417094	105417094	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr14:105417094G>T	ENST00000333244.5	-	7	4813	c.4694C>A	c.(4693-4695)cCt>cAt	p.P1565H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1565						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCGGACACAGGGCCCTCTGG	0.607													4	145					0.150653	0.150653	1	1	0	T	105417094	G	T	105417094	3	4	35	1	0	0	0	0	1	0	0	0	412	1000	35	5	12697	5	AHNAK2	14	105417094	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		105417094	1932446	7	622											
PRKACA	5566	broad.mit.edu	37	19	14208594	14208594	+	Silent	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:14208594G>A	ENST00000308677.4	-	6	724	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.D168D|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	176	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGCCCTGCTGGTCAATGAGCA	0.612													19	31					0	0	1	0	0	A	14208594	G	A	14208594	2	1	35	1	0	0	0	0	0	0	0	1	12549	1252	44	3		3	PRKACA	19	14208594	Silent	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		14208594	44920389	8	623											
MYH14	79784	broad.mit.edu	37	19	50720881	50720881	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:50720881G>A	ENST00000440075.2	+	3	462	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000596571.1_Missense_Mutation_p.G139S|MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	139	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGTACTCCGGCCTTTTCTG	0.602													28	50					0	0	1	0	0	A	50720881	G	A	50720881	3	1	35	1	0	0	0	0	1	0	0	0	10081	1116	39	2	421	2	MYH14	19	50720881	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08	36512287	50720881	8408102	9	624											
ZC3H7B	23264	broad.mit.edu	37	22	41735127	41735127	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr22:41735127G>A	ENST00000352645.4	+	9	1005	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	266					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCCAGCACCGACAGCCTGGA	0.662													25	40					0	0	1	0	0	A	41735127	G	A	41735127	3	1	35	1	0	0	0	0	1	0	0	0	17632	1058	37	2	778	2	ZC3H7B	22	41735127	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		41735127	9569439	10	625											
TAF1	6872	broad.mit.edu	37	X	70603867	70603867	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:70603867C>T	ENST00000449580.1	+	13	2051	c.2000C>T	c.(1999-2001)aCa>aTa	p.T667I	TAF1_ENST00000373790.4_Missense_Mutation_p.T667I|TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000423759.1_Missense_Mutation_p.T688I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	667					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTATGCGCACACCTCAGGAC	0.448													26	35					0	0	1	0	0	T	70603867	C	T	70603867	3	4	35	1	0	0	0	0	1	0	0	0	15570	478	17	3	2113	3	TAF1	23	70603867	Missense_Mutation	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08		70603867	84666693	11	626											
COL4A5	1287	broad.mit.edu	37	X	107936078	107936078	+	Silent	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:107936078C>T	ENST00000328300.6	+	50	4873	c.4629C>T	c.(4627-4629)taC>taT	p.Y1543Y	COL4A5_ENST00000361603.2_Silent_p.Y1537Y	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1537	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTATTCTTACTGGCTCTCTA	0.478									Alport syndrome with Diffuse Leiomyomatosis				29	43					0	0	1	0	0	T	107936078	C	T	107936078	2	4	35	1	0	0	0	0	0	0	0	1	3717	576	20	3		3	COL4A5	23	107936078	Silent	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08	37332211	107936078	47334482	12	627											
VPRBP	9730	broad.mit.edu	37	3	51455620	51455620	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr3:51455620C>A	ENST00000335891.5	-	9	2130	c.2121G>T	c.(2119-2121)tgG>tgT	p.W707C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1156					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AAGGCTGGCTCCAAGTAGCAG	0.423													3	9					0.004672	0.004672	1	1	0	A	51455620	C	A	51455620	3	1	36	1	0	0	0	0	1	0	0	0	17245	856	30	5	1091	5	VPRBP	3	51455620	Missense_Mutation	SNP	C	TCGA-QR-A70E-01A-11D-A35D-08		51455620	146566810	1	628											
RXRB	6257	broad.mit.edu	37	6	33163151	33163151	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr6:33163151A>G	ENST00000374680.3	-	8	1548	c.1337T>C	c.(1336-1338)cTg>cCg	p.L446P	RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|RXRB_ENST00000544186.1_Missense_Mutation_p.L260P	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	446	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGATTAAACAGAATGATTGC	0.527													27	40					0	0	1	0	0	G	33163151	A	G	33163151	3	3	36	1	0	0	0	0	1	0	0	0	13816	188	7	4	276	4	RXRB	6	33163151	Missense_Mutation	SNP	A	TCGA-QR-A70E-01A-11D-A35D-08		33163151	137951916	2	629											
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428													4	80					0	0	1	0	0	C	66479413	T	C	66479413	2	2	36	1	0	0	0	0	0	0	0	1	16880	1567	55	4		4	TYW1	7	66479413	Silent	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08		66479413	92659250	3	630											
TEX10	54881	broad.mit.edu	37	9	103109543	103109543	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr9:103109543T>A	ENST00000374902.4	-	3	502	c.326A>T	c.(325-327)gAt>gTt	p.D109V	TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	109						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGCATCTTTATCTGTAAACAC	0.368													24	136					0	0	1	0	0	A	103109543	T	A	103109543	3	1	36	1	0	0	0	0	1	0	0	0	15831	1435	50	5	2515	5	TEX10	9	103109543	Missense_Mutation	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08		103109543	38103888	4	631											
MKI67	4288	broad.mit.edu	37	10	129913862	129913862	+	Silent	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr10:129913862G>A	ENST00000368654.3	-	7	1185	c.810C>T	c.(808-810)taC>taT	p.Y270Y	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	270					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCTGTTGCGTAATCAGTTT	0.428													3	37					0	0	1	0	0	A	129913862	G	A	129913862	2	1	36	1	0	0	0	0	0	0	0	1	9646	1140	40	1		1	MKI67	10	129913862	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		129913862	5620885	5	632											
SLC22A12	116085	broad.mit.edu	37	11	64359373	64359373	+	Silent	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:64359373G>A	ENST00000377574.1	+	1	1092	c.345G>A	c.(343-345)ccG>ccA	p.P115P	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P|SLC22A12_ENST00000377567.2_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	115					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACACGGAGCCGTGTGTGGATG	0.662													26	3					0	0	1	0	0	A	64359373	G	A	64359373	2	1	36	1	0	0	0	0	0	0	0	1	14498	1132	40	1		1	SLC22A12	11	64359373	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		64359373	70647143	6	633											
ME3	10873	broad.mit.edu	37	11	86382833	86382833	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:86382833C>T	ENST00000543262.1	-	2	480	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ME3_ENST00000359636.2_Missense_Mutation_p.D52N|ME3_ENST00000393324.3_Missense_Mutation_p.D52N	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CTGGTGACATCGTATCCGCGC	0.701													6	54					0	0	1	0	0	T	86382833	C	T	86382833	3	4	36	1	0	0	0	0	1	0	0	0	9469	884	31	2	1716	2	ME3	11	86382833	Missense_Mutation	SNP	C	TCGA-QR-A70E-01A-11D-A35D-08	22023460	86382833	48623683	7	634											
KLRC2	3822	broad.mit.edu	37	12	10587970	10587970	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:10587970A>T	ENST00000381902.2	-	2	233	c.227T>A	c.(226-228)cTa>cAa	p.L76Q	NKG2-E_ENST00000539033.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	76					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						AATGATTCCTAGGACCTCGGC	0.423													32	79					0	0	1	0	0	T	10587970	A	T	10587970	3	4	36	1	0	0	0	0	1	0	0	0	8459	420	15	5	488	5	KLRC2	12	10587970	Missense_Mutation	SNP	A	TCGA-QR-A70E-01A-11D-A35D-08		10587970	123263925	8	635											
RSRC2	65117	broad.mit.edu	37	12	122999719	122999724	+	In_Frame_Del	DEL	TCCGGC	TCCGGC	-			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:122999719_122999724delTCCGGC	ENST00000331738.7	-	6	798_803	c.653_658delGCCGGA	c.(652-660)act>a	p.SRT218del	RSRC2_ENST00000354654.2_In_Frame_Del_p.SRT170del	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	218								p.S218S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGACTTGGAGTCCGGCTTAAACTTCT	0.383													8	72	---	---	---	---						-	122999724	TCCGGC	-	122999719	7	5	36	1	0	1	0	1	0	0	0	0	13767	1667	58	0	666	0	RSRC2	12	122999719	In_Frame_Del	DEL	TCCGGC	TCGA-QR-A70E-01A-11D-A35D-08	112411749	122999719	10852176	9	636											
SYNE2	23224	broad.mit.edu	37	14	64450466	64450466	+	Silent	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr14:64450466G>A	ENST00000358025.3	+	18	2243	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L671L|SYNE2_ENST00000554584.1_Silent_p.L671L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	671					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGAACCTGCCACTGATGA	0.284													8	46					0	0	1	0	0	A	64450466	G	A	64450466	2	1	36	1	0	0	0	0	0	0	0	1	15503	1306	46	3		3	SYNE2	14	64450466	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		64450466	42899074	10	637											
TMC7	79905	broad.mit.edu	37	16	19063129	19063129	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr16:19063129G>A	ENST00000421369.3	+	13	2090	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N	TMC7_ENST00000569532.1_Missense_Mutation_p.S621N|TMC7_ENST00000304381.5_Missense_Mutation_p.S621N	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	621						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGACAATCAGCATATCACGG	0.403													4	167					0	0	1	0	0	A	19063129	G	A	19063129	3	1	36	1	0	0	0	0	1	0	0	0	16050	971	34	3	1912	3	TMC7	16	19063129	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		19063129	71291624	11	638											
LAMA3	3909	broad.mit.edu	37	18	21474265	21474265	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr18:21474265G>A	ENST00000313654.9	+	43	5655	c.5414G>A	c.(5413-5415)tGc>tAc	p.C1805Y	LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1805	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTTAGACTGCATAAACCAA	0.373													3	36					0	0	1	0	0	A	21474265	G	A	21474265	3	1	36	1	0	0	0	0	1	0	0	0	8646	1319	46	3	5759	3	LAMA3	18	21474265	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		21474265	56602983	12	639											
PRICKLE3	4007	broad.mit.edu	37	X	49034506	49034506	+	Missense_Mutation	SNP	G	G	A	rs148273554		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:49034506G>A	ENST00000376317.3	-	7	885	c.791C>T	c.(790-792)aCg>aTg	p.T264M	PRICKLE3_ENST00000538114.1_Splice_Site_p.T251_splice|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	264	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CTCAGCCTCCGTGCACTCAGG	0.632													15	21					0	0	1	0	0	A	49034506	G	A	49034506	3	1	36	1	0	0	0	0	1	0	0	0	12540	1145	40	1	1068	1	PRICKLE3	23	49034506	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		49034506	106236054	13	640											
HUWE1	10075	broad.mit.edu	37	X	53588818	53588818	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:53588818T>C	ENST00000342160.3	-	54	7863	c.7406A>G	c.(7405-7407)gAg>gGg	p.E2469G	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2469	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGATAATCCTCATCCAATTC	0.468													12	63					0	0	1	0	0	C	53588818	T	C	53588818	3	2	36	1	0	0	0	0	1	0	0	0	7505	1551	54	4	5838	4	HUWE1	23	53588818	Missense_Mutation	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08	4554312	53588818	101681742	14	641											
FNDC7	163479	broad.mit.edu	37	1	109270464	109270464	+	Missense_Mutation	SNP	G	G	T	rs142706173	byFrequency	TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr1:109270464G>T	ENST00000370017.3	+	7	1423	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F	FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	383	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ACCCCGTGTTGGTGTCCAGTG	0.522													18	112					1.45105e-14	1.69289e-14	1	1	0	T	109270464	G	T	109270464	3	4	37	1	0	0	0	0	1	0	0	0	6006	1339	47	5	1172	5	FNDC7	1	109270464	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		109270464	139980157	1	642											
TTN	7273	broad.mit.edu	37	2	179596174	179596174	+	Silent	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:179596174G>A	ENST00000589042.1	-	59	17543	c.17319C>T	c.(17317-17319)gaC>gaT	p.D5773D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D4529D|TTN_ENST00000591111.1_Silent_p.D5456D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5456	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTATCGTCTTCAGTGA	0.483													23	51					0	0	1	0	0	A	179596174	G	A	179596174	2	1	37	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179596174	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		179596174	63603199	2	643											
PIKFYVE	200576	broad.mit.edu	37	2	209150561	209150561	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:209150561C>T	ENST00000264380.4	+	6	883	c.725C>T	c.(724-726)tCt>tTt	p.S242F	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	242					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTGCTTGCTCTGTGTCTGTG	0.428													4	88					0	0	1	0	0	T	209150561	C	T	209150561	3	4	37	1	0	0	0	0	1	0	0	0	11972	913	32	3	743	3	PIKFYVE	2	209150561	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	29554387	209150561	34048812	3	644											
PER2	8864	broad.mit.edu	37	2	239186523	239186523	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:239186523C>A	ENST00000254657.3	-	2	334	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	PER2_ENST00000254658.3_Missense_Mutation_p.V19L|PER2_ENST00000440245.1_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	19					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGCTCCACGGGCTCCTTG	0.612													3	27					6.4e-05	7.168e-05	1	1	0	A	239186523	C	A	239186523	3	1	37	1	0	0	0	0	1	0	0	0	11777	536	19	5	3800	5	PER2	2	239186523	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	30035962	239186523	4012850	4	645											
BOC	91653	broad.mit.edu	37	3	112987285	112987285	+	Silent	SNP	C	C	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr3:112987285C>A	ENST00000495514.1	+	5	1220	c.516C>A	c.(514-516)gcC>gcA	p.A172A	BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	172	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGGAGGCCTCCAGAGGTG	0.617													3	15					0.00024832	0.000257517	1	1	0	A	112987285	C	A	112987285	2	1	37	1	0	0	0	0	0	0	0	1	1480	668	24	5		5	BOC	3	112987285	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08		112987285	85035145	5	646											
GABRA2	2555	broad.mit.edu	37	4	46252463	46252463	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:46252463T>G	ENST00000510861.1	-	10	1391	c.1218A>C	c.(1216-1218)gaA>gaC	p.E406D	GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	406					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTCTTTGCTTCAGCTGGCT	0.403													25	144					0	0	1	0	0	G	46252463	T	G	46252463	3	3	37	1	0	0	0	0	1	0	0	0	6196	1606	56	5	141	5	GABRA2	4	46252463	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		46252463	144901813	6	647											
NPY1R	0	broad.mit.edu	37	4	164246696	164246696	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:164246696C>G	ENST00000296533.2	-	3	1445	c.914G>C	c.(913-915)tGc>tCc	p.C305S	NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	305					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAGGTGGCAGAGCAGGAA	0.423													6	47					0	0	1	0	0	G	164246696	C	G	164246696	3	3	37	1	0	0	0	0	1	0	0	0	10656	710	25	5	244	5	NPY1R	4	164246696	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	117994233	164246696	26907580	7	648											
SLC22A2	6582	broad.mit.edu	37	6	160645781	160645781	+	Silent	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr6:160645781C>T	ENST00000366953.3	-	10	1815	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	519					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCAAAGCTTTCCCTTTAGTTT	0.418													23	70					0	0	1	0	0	T	160645781	C	T	160645781	2	4	37	1	0	0	0	0	0	0	0	1	14506	842	30	3		3	SLC22A2	6	160645781	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08		160645781	10469286	8	649											
IGFBP3	3486	broad.mit.edu	37	7	45956263	45956263	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr7:45956263G>A	ENST00000275521.6	-	3	767	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	212	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CTACGGCAGGGACCCTGGGGA	0.468													5	83					0	0	1	0	0	A	45956263	G	A	45956263	3	1	37	1	0	0	0	0	1	0	0	0	7624	1174	41	3	249	3	IGFBP3	7	45956263	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		45956263	113182400	9	650											
PTPN3	0	broad.mit.edu	37	9	112182720	112182720	+	Silent	SNP	G	G	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr9:112182720G>T	ENST00000412145.1	-	9	3457	c.904C>A	c.(904-906)Cga>Aga	p.R302R	PTPN3_ENST00000374541.2_Silent_p.R433R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000446349.1_Silent_p.R257R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	433	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCGGGCTTCGGTTCTGAGAA	0.453													4	47					0.00909568	0.00909568	1	1	0	T	112182720	G	T	112182720	2	4	37	1	0	0	0	0	0	0	0	1	12841	1124	39	5		5	PTPN3	9	112182720	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		112182720	29030711	10	651											
MUC5B	727897	broad.mit.edu	37	11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr11:1272055G>A	ENST00000447027.1	+	31	14012	c.13954G>A	c.(13954-13956)Gcc>Acc	p.A4652T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612													11	11					0	0	1	0	0	A	1272055	G	A	1272055	3	1	37	1	0	0	0	0	1	0	0	0	10027	1087	38	1	14076	1	MUC5B	11	1272055	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		1272055	133734461	11	652											
MMP14	4323	broad.mit.edu	37	14	23311796	23311796	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:23311796T>A	ENST00000311852.6	+	4	819	c.558T>A	c.(556-558)caT>caA	p.H186Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	186						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGCTTCCATGGCGACAGCA	0.617													11	32					0	0	1	0	0	A	23311796	T	A	23311796	3	1	37	1	0	0	0	0	1	0	0	0	9701	1461	51	5	572	5	MMP14	14	23311796	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		23311796	84037744	12	653											
POLE2	5427	broad.mit.edu	37	14	50146494	50146494	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:50146494G>C	ENST00000539565.2	-	3	412	c.194C>G	c.(193-195)tCt>tGt	p.S65C	POLE2_ENST00000216367.5_Missense_Mutation_p.S65C|POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000553805.2_Missense_Mutation_p.S65C	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	65					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TTCCACCACAGATCGTTCAAT	0.368													12	20					0	0	1	0	0	C	50146494	G	C	50146494	3	2	37	1	0	0	0	0	1	0	0	0	12245	942	33	5	1457	5	POLE2	14	50146494	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	26834698	50146494	57203046	13	654											
KCNH5	27133	broad.mit.edu	37	14	63174996	63174996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:63174996G>A	ENST00000322893.7	-	11	2465	c.2197C>T	c.(2197-2199)Caa>Taa	p.Q733*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	733					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTGGAGTTGGTTCCTCTCA	0.557													19	60					0	0	1	0	0	A	63174996	G	A	63174996	4	1	37	1	0	0	0	0	0	1	0	0	8079	1357	47	3	773	3	KCNH5	14	63174996	Nonsense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	13028502	63174996	44174544	14	655											
CCDC88C	440193	broad.mit.edu	37	14	91875056	91875056	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:91875056G>A	ENST00000389857.6	-	3	303	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F|CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000554165.1_5'UTR	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	73				L -> F (in Ref. 1; CQ719279).	microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAATGCGAAGGTTCACATCA	0.458													4	30					0	0	1	0	0	A	91875056	G	A	91875056	3	1	37	1	0	0	0	0	1	0	0	0	2885	1000	35	3	5981	3	CCDC88C	14	91875056	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	28700060	91875056	15474484	15	656											
DNAH3	55567	broad.mit.edu	37	16	21098274	21098274	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr16:21098274G>C	ENST00000261383.3	-	19	2772	c.2773C>G	c.(2773-2775)Cgc>Ggc	p.R925G	DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	925	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTGCTAAGCGCCTGGGTGCA	0.463													4	211					0	0	1	0	0	C	21098274	G	C	21098274	3	2	37	1	0	0	0	0	1	0	0	0	4631	1087	38	5	9752	5	DNAH3	16	21098274	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		21098274	69256479	16	657											
PODNL1	79883	broad.mit.edu	37	19	14043665	14043665	+	Silent	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:14043665C>T	ENST00000538517.2	-	6	1363	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	PODNL1_ENST00000254320.3_Silent_p.R382R|PODNL1_ENST00000538371.2_Silent_p.R462R|PODNL1_ENST00000339560.5_Silent_p.R464R	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	464	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGACCCGGAGCCGGTTGTGCG	0.692													5	13					0	0	1	0	0	T	14043665	C	T	14043665	2	4	37	1	0	0	0	0	0	0	0	1	12227	726	26	3		3	PODNL1	19	14043665	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08		14043665	45085318	17	658											
STRN4	29888	broad.mit.edu	37	19	47228840	47228840	+	Silent	SNP	G	G	A	rs148663953	byFrequency	TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:47228840G>A	ENST00000391910.3	-	10	1785	c.1335C>T	c.(1333-1335)taC>taT	p.Y445Y	STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000263280.6_Silent_p.Y438Y|STRN4_ENST00000594357.2_5'UTR			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	438						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GAATGCCGTCGTAGTGCGAGC	0.607													16	23					0	0	1	0	0	A	47228840	G	A	47228840	2	1	37	1	0	0	0	0	0	0	0	1	15387	1140	40	1		1	STRN4	19	47228840	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	33185175	47228840	11900143	18	659											
NCR1	9437	broad.mit.edu	37	19	55421398	55421398	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:55421398C>T	ENST00000594765.1	+	5	680	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000291890.4_Missense_Mutation_p.L219F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	219					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAACACCAGCCTTGCACCTGA	0.433													16	135					0	0	1	0	0	T	55421398	C	T	55421398	3	4	37	1	0	0	0	0	1	0	0	0	10284	681	24	3	673	3	NCR1	19	55421398	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	8192558	55421398	3707585	19	660											
MACROD2	140733	broad.mit.edu	37	20	15480461	15480461	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr20:15480461T>C	ENST00000217246.4	+	8	1009	c.614T>C	c.(613-615)aTt>aCt	p.I205T	MACROD2_ENST00000310348.4_Missense_Mutation_p.I205T|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	205	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCAACACCATTAAGGAATGG	0.448													20	26					0	0	1	0	0	C	15480461	T	C	15480461	3	2	37	1	0	0	0	0	1	0	0	0	9192	1493	52	4	644	4	MACROD2	20	15480461	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		15480461	47545059	20	661											
RAPH1	65059	broad.mit.edu	37	2	204354775	204354775	+	Silent	SNP	G	G	A			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:204354775G>A	ENST00000319170.5	-	4	563	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A|RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	88					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCCATCAAGGCATCCAGAT	0.393													4	111					0	0	1	0	0	A	204354775	G	A	204354775	2	1	38	1	0	0	0	0	0	0	0	1	13102	987	35	3		3	RAPH1	2	204354775	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		204354775	38844598	1	662											
IHH	3549	broad.mit.edu	37	2	219924911	219924911	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:219924911G>C	ENST00000295731.5	-	1	278	c.279C>G	c.(277-279)gaC>gaG	p.D93E		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	93					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTCTCCTCGTCCTTGAAGA	0.657													22	72					0	0	1	0	0	C	219924911	G	C	219924911	3	2	38	1	0	0	0	0	1	0	0	0	7651	1136	40	5	968	5	IHH	2	219924911	Missense_Mutation	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08	15570136	219924911	23274462	2	663											
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577													3	40					0	0	1	0	0	C	79792085	G	C	79792085	3	2	38	1	0	0	0	0	1	0	0	0	1459	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		79792085	111362191	3	664											
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													5	102					3.59834e-05	3.7619e-05	1	1	0	T	140553994	G	T	140553994	2	4	38	1	0	0	0	0	0	0	0	1	11594	1132	40	5		5	PCDHB7	5	140553994	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		140553994	40361266	4	665											
NUDCD2	134492	broad.mit.edu	37	5	162886940	162886940	+	Silent	SNP	G	G	T	rs141206788		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886940G>T	ENST00000302764.4	-	1	206	c.117C>A	c.(115-117)cgC>cgA	p.R39R	NUDCD2_ENST00000517501.1_Silent_p.R39R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS.					intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TATCCTGGGCGCGCGTGCCTG	0.672													57	82					1.74971e-23	1.91635e-23	1	1	0	T	162886940	G	T	162886940	2	4	38	1	0	0	0	0	0	0	0	1	10771	1074	38	5		5	NUDCD2	5	162886940	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08	22332946	162886940	18028320	5	666	6	2									
NUDCD2	134492	broad.mit.edu	37	5	162886941	162886941	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886941C>T	ENST00000302764.4	-	1	205	c.116G>A	c.(115-117)cGc>cAc	p.R39H	NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS.					intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATCCTGGGCGCGCGTGCCTGG	0.672													56	81					0	0	1	0	0	T	162886941	C	T	162886941	3	4	38	1	0	0	0	0	1	0	0	0	10771	768	27	1	373	1	NUDCD2	5	162886941	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08	1	162886941	18028319	6	667	6	2									
ETV7	51513	broad.mit.edu	37	6	36343733	36343733	+	Silent	SNP	G	G	A			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr6:36343733G>A	ENST00000339796.5	-	3	1067	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ETV7_ENST00000340181.4_Silent_p.C74C|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Silent_p.C74C	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	74	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCTCCGCGGTGCATGGCAGAG	0.652													22	33					0	0	1	0	0	A	36343733	G	A	36343733	2	1	38	1	0	0	0	0	0	0	0	1	5312	1311	46	3		3	ETV7	6	36343733	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		36343733	134771334	7	668											
CAMK2B	816	broad.mit.edu	37	7	44273998	44273998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr7:44273998delA	ENST00000395749.2	-	15	1198	c.1122delT	c.(1120-1122)ccfs	p.P374fs	CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000346990.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCAGGGCGGCAGGAGGAAGCG	0.617													2	4	---	---	---	---						-	44273998	A	-	44273998	7	5	38	1	0	1	0	1	0	0	0	0	2618	175	7	0	914	0	CAMK2B	7	44273998	Frame_Shift_Del	DEL	A	TCGA-QR-A70H-01A-12D-A35D-08		44273998	114864665	8	669											
GPR124	25960	broad.mit.edu	37	8	37697651	37697651	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:37697651C>G	ENST00000315215.7	+	14	2236	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	GPR124_ENST00000412232.2_Missense_Mutation_p.L842V			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	842					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGCATCACCCTGCACTACTC	0.652													6	44					0	0	1	0	0	G	37697651	C	G	37697651	3	3	38	1	0	0	0	0	1	0	0	0	6678	680	24	5	2569	5	GPR124	8	37697651	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		37697651	108666371	9	670											
MTFR1	9650	broad.mit.edu	37	8	66617057	66617057	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:66617057A>G	ENST00000262146.4	+	5	536	c.410A>G	c.(409-411)aAt>aGt	p.N137S	MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	137						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GCGCTGGCAAATGAGGAAGCA	0.493													38	34					0	0	1	0	0	G	66617057	A	G	66617057	3	3	38	1	0	0	0	0	1	0	0	0	9973	101	4	4	424	4	MTFR1	8	66617057	Missense_Mutation	SNP	A	TCGA-QR-A70H-01A-12D-A35D-08	28919406	66617057	79746965	10	671											
PRUNE2	158471	broad.mit.edu	37	9	79322065	79322065	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr9:79322065C>T	ENST00000428286.1	-	8	5248	c.4048G>A	c.(4048-4050)Gtt>Att	p.V1350I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1709I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1709					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCAGCAACGTGGCAGTTG	0.443													28	32					0	0	1	0	0	T	79322065	C	T	79322065	3	4	38	1	0	0	0	0	1	0	0	0	12690	536	19	1	4189	1	PRUNE2	9	79322065	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		79322065	61891366	11	672											
HNRNPUL2	221092	broad.mit.edu	37	11	62488846	62488846	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr11:62488846delA	ENST00000301785.5	-	9	1724	c.1532delT	c.(1531-1533)tafs	p.L511fs	RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L511fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	511					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCTGAACTAAAAGGTCTCG	0.413													77	144	---	---	---	---						-	62488846	A	-	62488846	7	5	38	1	0	1	0	1	0	0	0	0	7316	372	13	0	735	0	HNRNPUL2	11	62488846	Frame_Shift_Del	DEL	A	TCGA-QR-A70H-01A-12D-A35D-08		62488846	72517670	12	673											
SCYL2	55681	broad.mit.edu	37	12	100722992	100722992	+	Silent	SNP	T	T	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr12:100722992T>C	ENST00000360820.2	+	13	2093	c.1656T>C	c.(1654-1656)tgT>tgC	p.C552C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	552					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTACAAATGTACTTTTACTC	0.313													4	58					0	0	1	0	0	C	100722992	T	C	100722992	2	2	38	1	0	0	0	0	0	0	0	1	14002	1644	57	4		4	SCYL2	12	100722992	Silent	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		100722992	33128903	13	674											
BRCA2	675	broad.mit.edu	37	13	32968858	32968858	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr13:32968858T>C	ENST00000544455.1	+	25	9516	c.9289T>C	c.(9289-9291)Tgt>Cgt	p.C3097R	BRCA2_ENST00000380152.3_Missense_Mutation_p.C3097R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3097					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCAGACGAATGTTACAATTT	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			39	76					0	0	1	0	0	C	32968858	T	C	32968858	3	2	38	1	0	0	0	0	1	0	0	0	1501	1464	51	4	9383	4	BRCA2	13	32968858	Missense_Mutation	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		32968858	82201020	14	675											
GLG1	2734	broad.mit.edu	37	16	74502950	74502950	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr16:74502950A>C	ENST00000422840.2	-	17	2329	c.2330T>G	c.(2329-2331)gTg>gGg	p.V777G	GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	777						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGGCAGATCACCACGTCCAC	0.622													15	27					0	0	1	0	0	C	74502950	A	C	74502950	3	2	38	1	0	0	0	0	1	0	0	0	6478	159	6	5	1329	5	GLG1	16	74502950	Missense_Mutation	SNP	A	TCGA-QR-A70H-01A-12D-A35D-08		74502950	15851803	15	676											
MLLT6	4302	broad.mit.edu	37	17	36873756	36873756	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr17:36873756C>T	ENST00000325718.7	+	11	1814	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	575					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCACCCCTCTCTCCTCCAG	0.657			T	MLL	AL								25	61					0	0	1	0	0	T	36873756	C	T	36873756	3	4	38	1	0	0	0	0	1	0	0	0	9678	913	32	3	1765	3	MLLT6	17	36873756	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		36873756	44321454	16	677											
ZNF77	58492	broad.mit.edu	37	19	2936578	2936578	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr19:2936578T>G	ENST00000314531.4	-	3	347	c.255A>C	c.(253-255)gaA>gaC	p.E85D		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCAATTTTCTCCAAAAA	0.468													25	46					0	0	1	0	0	G	2936578	T	G	2936578	3	3	38	1	0	0	0	0	1	0	0	0	18192	1838	64	5	1390	5	ZNF77	19	2936578	Missense_Mutation	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		2936578	56192405	17	678											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---						-	38079978	GCA	-	38079976	7	5	38	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-QR-A70H-01A-12D-A35D-08		38079976	117190584	18	679											
OBSCN	84033	broad.mit.edu	37	1	228464238	228464238	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr1:228464238C>T	ENST00000570156.2	+	26	7507	c.7433C>T	c.(7432-7434)gCg>gTg	p.A2478V	OBSCN_ENST00000359599.6_Missense_Mutation_p.A950V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2103V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2103V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1469	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCGCATGCGGACGTGGAT	0.692													3	43					0	0	1	0	0	T	228464238	C	T	228464238	3	4	39	1	0	0	0	0	1	0	0	0	10860	768	27	1	6390	1	OBSCN	1	228464238	Missense_Mutation	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		228464238	20786383	1	680											
AKAP9	10142	broad.mit.edu	37	7	91623993	91623993	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr7:91623993C>A	ENST00000359028.2	+	7	896	c.671C>A	c.(670-672)gCt>gAt	p.A224D	AKAP9_ENST00000394564.1_Missense_Mutation_p.A212D|AKAP9_ENST00000358100.2_Missense_Mutation_p.A224D|AKAP9_ENST00000356239.3_Missense_Mutation_p.A212D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	224	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGCTCACTGCTAATTTACAA	0.313			T	BRAF	papillary thyroid								3	44					0.004672	0.00503138	1	1	0	A	91623993	C	A	91623993	3	1	39	1	0	0	0	0	1	0	0	0	456	797	28	5	657	5	AKAP9	7	91623993	Missense_Mutation	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		91623993	67514670	2	681											
VCPIP1	80124	broad.mit.edu	37	8	67577499	67577499	+	Silent	SNP	A	A	G			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr8:67577499A>G	ENST00000310421.4	-	1	1953	c.1695T>C	c.(1693-1695)tcT>tcC	p.S565S		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	565					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGTGGACCTAGAATTAGTTC	0.433													5	160					0	0	1	0	0	G	67577499	A	G	67577499	2	3	39	1	0	0	0	0	0	0	0	1	17201	407	15	4		4	VCPIP1	8	67577499	Silent	SNP	A	TCGA-QR-A70I-01A-11D-A35D-08		67577499	78786523	3	682											
JAK2	3717	broad.mit.edu	37	9	5069080	5069080	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr9:5069080A>C	ENST00000381652.3	+	11	1879	c.1385A>C	c.(1384-1386)tAc>tCc	p.Y462S	JAK2_ENST00000539801.1_Missense_Mutation_p.Y462S|JAK2_ENST00000544510.1_Missense_Mutation_p.Y313S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	462	SH2; atypical.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATGAAGAGTACAACCTCAGT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				19	34					0	0	1	0	0	C	5069080	A	C	5069080	3	2	39	1	0	0	0	0	1	0	0	0	7982	391	14	5	1419	5	JAK2	9	5069080	Missense_Mutation	SNP	A	TCGA-QR-A70I-01A-11D-A35D-08		5069080	136144351	4	683											
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662													12	12					0	0	1	0	0	A	124761327	G	A	124761327	3	1	39	1	0	0	0	0	1	0	0	0	13568	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-QR-A70I-01A-11D-A35D-08		124761327	10245189	5	684											
C16orf70	80262	broad.mit.edu	37	16	67168285	67168285	+	Silent	SNP	C	C	T			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr16:67168285C>T	ENST00000219139.3	+	8	764	c.576C>T	c.(574-576)ttC>ttT	p.F192F	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.F192F	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	192										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGAGCTGTTTCCTGGGCAATG	0.532													5	270					0	0	1	0	0	T	67168285	C	T	67168285	2	4	39	1	0	0	0	0	0	0	0	1	1836	854	30	3		3	C16orf70	16	67168285	Silent	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		67168285	23186468	6	685											
PADI3	51702	broad.mit.edu	37	1	17597607	17597607	+	Silent	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:17597607C>T	ENST00000375460.3	+	9	1021	c.981C>T	c.(979-981)gcC>gcT	p.A327A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	327					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAGCTGGCCAGGAAGGCCG	0.647													5	35					0	0	1	0	0	T	17597607	C	T	17597607	2	4	40	1	0	0	0	0	0	0	0	1	11426	581	21	3		3	PADI3	1	17597607	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		17597607	231653014	1	686											
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567													4	179					0	0	1	0	0	A	156708205	G	A	156708205	3	1	40	1	0	0	0	0	1	0	0	0	9839	1203	42	3	457	3	MRPL24	1	156708205	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	139110598	156708205	92542416	2	687											
TNR	7143	broad.mit.edu	37	1	175365905	175365905	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:175365905C>T	ENST00000367674.1	-	5	1723	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TNR_ENST00000263525.2_Missense_Mutation_p.D339N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	339	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGGACCTGTCGCTGATACCA	0.602													5	172					0	0	1	0	0	T	175365905	C	T	175365905	3	4	40	1	0	0	0	0	1	0	0	0	16398	884	31	2	3137	2	TNR	1	175365905	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	18657700	175365905	73884716	3	688											
ROCK2	9475	broad.mit.edu	37	2	11333967	11333967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:11333967G>A	ENST00000315872.6	-	30	4073	c.3625C>T	c.(3625-3627)Cga>Tga	p.R1209*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1209	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAACTGGTCGGACATGAAAT	0.299													7	67					0	0	1	0	0	A	11333967	G	A	11333967	4	1	40	1	0	0	0	0	0	1	0	0	13570	1124	39	2	557	2	ROCK2	2	11333967	Nonsense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		11333967	231865406	4	689											
ST6GAL2	84620	broad.mit.edu	37	2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:107460204C>T	ENST00000409382.3	-	2	840	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677													14	53					0	0	1	0	0	T	107460204	C	T	107460204	3	4	40	1	0	0	0	0	1	0	0	0	15278	768	27	1	1466	1	ST6GAL2	2	107460204	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	96126237	107460204	135739169	5	690											
CLASP2	23122	broad.mit.edu	37	3	33592821	33592821	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:33592821T>G	ENST00000399362.4	-	30	3450	c.3097A>C	c.(3097-3099)Aat>Cat	p.N1033H	CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1034H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1035										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCACTGGAATTTATAAAATCT	0.408													21	58					0	0	1	0	0	G	33592821	T	G	33592821	3	3	40	1	0	0	0	0	1	0	0	0	3478	1841	64	5	1484	5	CLASP2	3	33592821	Missense_Mutation	SNP	T	TCGA-QR-A70J-01A-11D-A35D-08		33592821	164429609	6	691											
USP19	10869	broad.mit.edu	37	3	49151652	49151652	+	Silent	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:49151652G>A	ENST00000453664.1	-	16	2640	c.2322C>T	c.(2320-2322)ctC>ctT	p.L774L	USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000398888.2_Silent_p.L683L|USP19_ENST00000417901.1_Silent_p.L786L|USP19_ENST00000434032.2_Silent_p.L784L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	683					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAAAGACAGGGAGAACCTTTT	0.547													36	124					0	0	1	0	0	A	49151652	G	A	49151652	2	1	40	1	0	0	0	0	0	0	0	1	17110	1161	41	3		3	USP19	3	49151652	Silent	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	15558831	49151652	148870778	7	692											
CPZ	8532	broad.mit.edu	37	4	8605723	8605723	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:8605723G>A	ENST00000382480.2	+	4	906	c.106G>A	c.(106-108)Gca>Aca	p.A36T	CPZ_ENST00000360986.4_Missense_Mutation_p.A173T|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	173	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCTGACGAGGCACTGCCCTC	0.687													3	39					0	0	1	0	0	A	8605723	G	A	8605723	3	1	40	1	0	0	0	0	1	0	0	0	3862	1203	42	3	531	3	CPZ	4	8605723	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		8605723	182548553	8	693											
MMRN1	22915	broad.mit.edu	37	4	90816482	90816482	+	Silent	SNP	C	C	T	rs142099842		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:90816482C>T	ENST00000394980.1	+	2	679	c.360C>T	c.(358-360)aaC>aaT	p.N120N	MMRN1_ENST00000264790.2_Silent_p.N120N|MMRN1_ENST00000394981.1_Silent_p.N86N			Q13201	MMRN1_HUMAN	multimerin 1	120					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCCAACCAACGCTAGCATCA	0.438													16	65					0	0	1	0	0	T	90816482	C	T	90816482	2	4	40	1	0	0	0	0	0	0	0	1	9719	535	19	1		1	MMRN1	4	90816482	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	82210759	90816482	100337794	9	694											
SORBS2	8470	broad.mit.edu	37	4	186544307	186544307	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:186544307C>T	ENST00000431808.1	-	14	2827	c.2264G>A	c.(2263-2265)aGc>aAc	p.S755N	SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S755N|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	755						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGCAGGATGCTGTTGTCCGG	0.537													4	229					0	0	1	0	0	T	186544307	C	T	186544307	3	4	40	1	0	0	0	0	1	0	0	0	14982	797	28	3	1074	3	SORBS2	4	186544307	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	95727825	186544307	4609969	10	695											
SPINK5	11005	broad.mit.edu	37	5	147504400	147504400	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr5:147504400G>T	ENST00000398454.1	+	28	2812	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SPINK5_ENST00000359874.3_Splice_Site_p.K913_splice|SPINK5_ENST00000256084.7_Splice_Site_p.K913_splice	NM_001127699.1	NP_001121171.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	913	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGCAAAGGTTATTTATT	0.284													5	16					0.00116845	0.00116845	1	1	0	T	147504400	G	T	147504400	3	4	40	1	0	0	0	0	1	0	0	0	15118	1014	35	5	2849	5	SPINK5	5	147504400	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		147504400	33410860	11	696											
TPK1	27010	broad.mit.edu	37	7	144462990	144462990	+	Missense_Mutation	SNP	C	C	T	rs77358162	byFrequency	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr7:144462990C>T	ENST00000360057.3	-	3	200	c.98G>A	c.(97-99)cGt>cAt	p.R33H	TPK1_ENST00000378099.3_Missense_Mutation_p.R33H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	33					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CCAAAGATGACGAAAATAGTT	0.328													15	72					0	0	1	0	0	T	144462990	C	T	144462990	3	4	40	1	0	0	0	0	1	0	0	0	16465	536	19	1	661	1	TPK1	7	144462990	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		144462990	14675673	12	697											
MYPN	84665	broad.mit.edu	37	10	69882049	69882049	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:69882049G>A	ENST00000358913.5	+	2	1342	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	285	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAAGGAACTCGAGTACAGTTG	0.468													12	60					0	0	1	0	0	A	69882049	G	A	69882049	3	1	40	1	0	0	0	0	1	0	0	0	10146	1058	37	2	856	2	MYPN	10	69882049	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		69882049	65652698	13	698											
TCF7L2	6934	broad.mit.edu	37	10	114910867	114910867	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:114910867G>A	ENST00000355995.4	+	9	1493	c.986G>A	c.(985-987)gGc>gAc	p.G329D	TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000545257.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	329	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGTGATGTCGGCTCACTCCAT	0.532			T	VTI1A	colorectal								4	105					0	0	1	0	0	A	114910867	G	A	114910867	3	1	40	1	0	0	0	0	1	0	0	0	15758	1203	42	3	1165	3	TCF7L2	10	114910867	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	45028818	114910867	20623880	14	699											
TACC2	10579	broad.mit.edu	37	10	123970864	123970864	+	Silent	SNP	C	C	A	rs116727041	by1000genomes	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:123970864C>A	ENST00000369005.1	+	9	7264	c.6924C>A	c.(6922-6924)ccC>ccA	p.P2308P	TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000515273.1_Silent_p.P2312P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000260733.3_Silent_p.P386P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000369001.1_Silent_p.P12P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2308						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAAGACACCCGAGAAACTTG	0.488													30	92					3.80469e-20	4.15058e-20	1	1	0	A	123970864	C	A	123970864	2	1	40	1	0	0	0	0	0	0	0	1	15559	639	23	5		5	TACC2	10	123970864	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	9059997	123970864	11563883	15	700											
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr11:64056826C>T	ENST00000411458.1	+	9	1445	c.1417C>T	c.(1417-1419)Ccg>Tcg	p.P473S	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000377702.4_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647													4	86					0	0	1	0	0	T	64056826	C	T	64056826	3	4	40	1	0	0	0	0	1	0	0	0	6685	739	26	3	1557	3	GPR137	11	64056826	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		64056826	70949690	16	701											
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr14:103174910C>T	ENST00000262241.6	+	6	995	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468													6	205					0	0	1	0	0	T	103174910	C	T	103174910	3	4	40	1	0	0	0	0	1	0	0	0	13234	759	27	1	782	1	RCOR1	14	103174910	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		103174910	4174630	17	702											
MEFV	4210	broad.mit.edu	37	16	3293277	3293277	+	Missense_Mutation	SNP	C	C	A	rs139092123	by1000genomes	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr16:3293277C>A	ENST00000219596.1	-	10	2249	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.R526I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	737	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GATGTGGGATCTGGCTGTCAC	0.542													4	88					2.56e-06	2.71059e-06	1	1	0	A	3293277	C	A	3293277	3	1	40	1	0	0	0	0	1	0	0	0	9509	913	32	5	139	5	MEFV	16	3293277	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		3293277	87061476	18	703											
KDM6B	23135	broad.mit.edu	37	17	7756355	7756355	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr17:7756355C>G	ENST00000254846.5	+	21	5037	c.4648C>G	c.(4648-4650)Caa>Gaa	p.Q1550E	KDM6B_ENST00000448097.2_Missense_Mutation_p.Q1550E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1550					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGCCAGGTGCAACGCGAGAG	0.627													4	27					0	0	1	0	0	G	7756355	C	G	7756355	3	3	40	1	0	0	0	0	1	0	0	0	8181	711	25	5	4718	5	KDM6B	17	7756355	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		7756355	73438855	19	704											
WDR62	284403	broad.mit.edu	37	19	36585023	36585023	+	Silent	SNP	A	A	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr19:36585023A>T	ENST00000401500.2	+	20	2459	c.2424A>T	c.(2422-2424)ccA>ccT	p.P808P	WDR62_ENST00000270301.7_Silent_p.P808P	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	808					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTGTGAGCCAGAAGAGATGC	0.488													8	75					0	0	1	0	0	T	36585023	A	T	36585023	2	4	40	1	0	0	0	0	0	0	0	1	17373	175	7	5		5	WDR62	19	36585023	Silent	SNP	A	TCGA-QR-A70J-01A-11D-A35D-08		36585023	22543960	20	705											
RAB22A	57403	broad.mit.edu	37	20	56918775	56918775	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr20:56918775G>A	ENST00000244040.3	+	3	399	c.116_splice	c.e3-1	p.A40_splice	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	40					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTTTATAGGGCATCTTTTAT	0.403													3	50					0	0	1	0	0	A	56918775	G	A	56918775	5	1	40	1	0	0	0	0	0	0	1	0	12961	1217	42	3	128	3	RAB22A	20	56918775	Splice_Site	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		56918775	6106745	21	706											
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													2	4	---	---	---	---						GGCGGC	54209303	-	GGCGGC	54209302	7	5	40	1	0	1	1	0	0	0	0	0	5449	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-QR-A70J-01A-11D-A35D-08		54209302	101061258	22	707											
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	168	---	---	---	---						-	149984526	GTG	-	149984524	7	5	40	1	0	1	0	1	0	0	0	0	3073	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-QR-A70J-01A-11D-A35D-08	95775222	149984524	5286036	23	708											
OR10X1	128367	broad.mit.edu	37	1	158549598	158549598	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr1:158549598A>G	ENST00000368150.1	-	1	91	c.92T>C	c.(91-93)gTt>gCt	p.V31A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAAAAGCCAACAAGAATGAA	0.368													20	223					0	0	1	0	0	G	158549598	A	G	158549598	3	3	41	1	0	0	0	0	1	0	0	0	10970	43	2	4	883	4	OR10X1	1	158549598	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08		158549598	90701023	1	709											
TPO	7173	broad.mit.edu	37	2	1418187	1418187	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:1418187G>A	ENST00000345913.4	+	2	98	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T|TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000329066.4_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	3					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TAGAATGAGAGCGCTCGCTGT	0.522													11	25					0	0	1	0	0	A	1418187	G	A	1418187	3	1	41	1	0	0	0	0	1	0	0	0	16471	971	34	3	9	3	TPO	2	1418187	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		1418187	241781186	2	710											
RTN4	57142	broad.mit.edu	37	2	55252359	55252359	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:55252359G>A	ENST00000337526.6	-	3	3119	c.2876C>T	c.(2875-2877)gCc>gTc	p.A959V	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V|RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	959					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTTGAGTGGCCAAAGCAGA	0.403													4	108					0	0	1	0	0	A	55252359	G	A	55252359	3	1	41	1	0	0	0	0	1	0	0	0	13780	1203	42	3	768	3	RTN4	2	55252359	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	53834172	55252359	187947014	3	711											
HAT1	8520	broad.mit.edu	37	2	172841113	172841113	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:172841113A>G	ENST00000264108.4	+	9	877	c.841A>G	c.(841-843)Agc>Ggc	p.S281G	HAT1_ENST00000392584.1_Missense_Mutation_p.S196G|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	281					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCCATCCAAAAGCTATGTGAA	0.333													27	2					0	0	1	0	0	G	172841113	A	G	172841113	3	3	41	1	0	0	0	0	1	0	0	0	7005	72	3	4	875	4	HAT1	2	172841113	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	117588754	172841113	70358260	4	712											
OSBPL6	114880	broad.mit.edu	37	2	179255937	179255937	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:179255937G>T	ENST00000190611.4	+	22	2815	c.2439G>T	c.(2437-2439)tgG>tgT	p.W813C	OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	813					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGTGCATTTGGAGACCAGGTG	0.527													45	11					1.35964e-18	1.49838e-18	1	1	0	T	179255937	G	T	179255937	3	4	41	1	0	0	0	0	1	0	0	0	11328	1183	41	5	2639	5	OSBPL6	2	179255937	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	6414824	179255937	63943436	5	713											
DPPA2	151871	broad.mit.edu	37	3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438													5	56					0	0	1	0	0	T	109027103	C	T	109027103	3	4	41	1	0	0	0	0	1	0	0	0	4760	884	31	2	474	2	DPPA2	3	109027103	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		109027103	88995327	6	714											
CD96	0	broad.mit.edu	37	3	111263944	111263944	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:111263944G>A	ENST00000352690.4	+	2	353	c.113G>A	c.(112-114)gGc>gAc	p.G38D	CD96_ENST00000283285.5_Missense_Mutation_p.G38D|CD96_ENST00000438817.2_Missense_Mutation_p.G38D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	38	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCTACACTTGGCTCTGATGTC	0.403									Opitz Trigonocephaly syndrome				4	114					0	0	1	0	0	A	111263944	G	A	111263944	3	1	41	1	0	0	0	0	1	0	0	0	3070	1203	42	3	119	3	CD96	3	111263944	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	2236841	111263944	86758486	7	715											
RTP4	64108	broad.mit.edu	37	3	187089150	187089150	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:187089150A>G	ENST00000259030.2	+	2	840	c.730A>G	c.(730-732)Aca>Gca	p.T244A		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	244					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAAATGCTTTACATCAGAATG	0.378													11	16					0	0	1	0	0	G	187089150	A	G	187089150	3	3	41	1	0	0	0	0	1	0	0	0	13788	391	14	4	736	4	RTP4	3	187089150	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	75825206	187089150	10933280	8	716											
PROM1	8842	broad.mit.edu	37	4	15989292	15989292	+	Silent	SNP	T	T	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:15989292T>A	ENST00000505450.1	-	19	2709	c.2097A>T	c.(2095-2097)ggA>ggT	p.G699G	PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000510224.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G|PROM1_ENST00000543373.1_Silent_p.G699G	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	708					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTACCAACAATCCATTCCCTG	0.353													23	109					0	0	1	0	0	A	15989292	T	A	15989292	2	1	41	1	0	0	0	0	0	0	0	1	12607	1422	50	5		5	PROM1	4	15989292	Silent	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		15989292	175164984	9	717											
GUCY1A3	2982	broad.mit.edu	37	4	156632137	156632137	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:156632137T>C	ENST00000296518.7	+	6	1029	c.820T>C	c.(820-822)Tcg>Ccg	p.S274P	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	274					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACCCCAGTCCTCGCTGGTGAT	0.458													4	77					0	0	1	0	0	C	156632137	T	C	156632137	3	2	41	1	0	0	0	0	1	0	0	0	6935	1551	54	4	834	4	GUCY1A3	4	156632137	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	140642845	156632137	34522139	10	718											
RUNX2	860	broad.mit.edu	37	6	45296445	45296446	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr6:45296445_45296446insA	ENST00000352853.5	+	2	186_187	c.186_187insA	c.(184-189)ctaaaafs	p.LK62fs	RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000465038.2_5'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371438.1_5'UTR|SUPT3H_ENST00000371459.1_Intron			Q13950	RUNX2_HUMAN	runt-related transcription factor 2	0	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTTCTATCTGAAAAAAAAAGG	0.386													7	86	---	---	---	---						A	45296446	-	A	45296445	7	5	41	1	0	1	1	0	0	0	0	0	13800	1305	45	0		0	RUNX2	6	45296445	Frame_Shift_Ins	INS	-	TCGA-QR-A70K-01A-12D-A35D-08		45296445	125818622	11	719											
HECA	51696	broad.mit.edu	37	6	139488311	139488311	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr6:139488311C>T	ENST00000367658.2	+	2	1447	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	388					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCTGGCCGCGCTCAGTGCCAG	0.577													12	45					0	0	1	0	0	T	139488311	C	T	139488311	3	4	41	1	0	0	0	0	1	0	0	0	7079	797	28	3	1168	3	HECA	6	139488311	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08	94191866	139488311	31626756	12	720											
CPSF4	10898	broad.mit.edu	37	7	99054072	99054072	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:99054072C>T	ENST00000436336.2	+	8	845	c.684C>T	c.(682-684)caC>caT	p.H228H	CPSF4_ENST00000451876.1_Silent_p.H195H|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000292476.5_Silent_p.H253H|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Silent_p.H175H	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	253					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAAAGGACACTACGCCAACA	0.577													15	23					0	0	1	0	0	T	99054072	C	T	99054072	2	4	41	1	0	0	0	0	0	0	0	1	3851	564	20	3		3	CPSF4	7	99054072	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		99054072	60084591	13	721											
CPA4	51200	broad.mit.edu	37	7	129948219	129948219	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:129948219T>G	ENST00000222482.4	+	8	803	c.775T>G	c.(775-777)Tgg>Ggg	p.W259G	CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	259					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AAATAGAAACTGGAACGCTAG	0.562													5	50					0	0	1	0	0	G	129948219	T	G	129948219	3	3	41	1	0	0	0	0	1	0	0	0	3815	1580	55	5	805	5	CPA4	7	129948219	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	30894147	129948219	29190444	14	722											
DOCK8	81704	broad.mit.edu	37	9	441994	441994	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:441994C>T	ENST00000432829.2	+	42	5587	c.5271C>T	c.(5269-5271)atC>atT	p.I1757I	DOCK8_ENST00000453981.1_Silent_p.I1825I|DOCK8_ENST00000469391.1_Silent_p.I1725I|DOCK8_ENST00000382329.1_Silent_p.I1292I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1825	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCCTGAGATCTCACATAGAC	0.403													10	85					0	0	1	0	0	T	441994	C	T	441994	2	4	41	1	0	0	0	0	0	0	0	1	4720	903	32	3		3	DOCK8	9	441994	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		441994	140771437	15	723											
PIGO	84720	broad.mit.edu	37	9	35092369	35092369	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:35092369C>T	ENST00000378617.3	-	7	1909	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PIGO_ENST00000341666.3_Silent_p.E505E|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	505					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAGCTTCAGCTCAATAGTTC	0.582													10	49					0	0	1	0	0	T	35092369	C	T	35092369	2	4	41	1	0	0	0	0	0	0	0	1	11942	796	28	3		3	PIGO	9	35092369	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08	34650375	35092369	106121062	16	724											
C5	727	broad.mit.edu	37	9	123742463	123742463	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:123742463A>C	ENST00000223642.1	-	28	3585	c.3556T>G	c.(3556-3558)Ttt>Gtt	p.F1186V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1186					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GCCAATGTAAAGGTGCTCTGG	0.408													21	77					0	0	1	0	0	C	123742463	A	C	123742463	3	2	41	1	0	0	0	0	1	0	0	0	2295	72	3	5	1530	5	C5	9	123742463	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	88650094	123742463	17470968	17	725											
AFAP1L2	84632	broad.mit.edu	37	10	116062114	116062114	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr10:116062114C>T	ENST00000369271.3	-	12	1714	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A472T|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	472					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.A472T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGTTTTTGGCCGCACTCACA	0.547													5	159					0	0	1	0	0	T	116062114	C	T	116062114	3	4	41	1	0	0	0	0	1	0	0	0	354	739	26	3	1074	3	AFAP1L2	10	116062114	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		116062114	19472633	18	726											
SNX19	399979	broad.mit.edu	37	11	130785052	130785052	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr11:130785052G>C	ENST00000265909.4	-	1	1352	c.783C>G	c.(781-783)caC>caG	p.H261Q	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	261	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGAGTACAAGGTGGATCCAGT	0.547													19	75					0	0	1	0	0	C	130785052	G	C	130785052	3	2	41	1	0	0	0	0	1	0	0	0	14944	1252	44	5	2239	5	SNX19	11	130785052	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		130785052	4221464	19	727											
KLRD1	3824	broad.mit.edu	37	12	10462061	10462061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:10462061G>T	ENST00000381908.3	+	2	342	c.82G>T	c.(82-84)Gga>Tga	p.G28*	KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000381907.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	28					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GTCTACGTTGGGAATTTTGTT	0.343													15	69					3.32936e-07	3.39218e-07	1	1	0	T	10462061	G	T	10462061	4	4	41	1	0	0	0	0	0	1	0	0	8462	1233	43	5	88	5	KLRD1	12	10462061	Nonsense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		10462061	123389834	20	728											
POLR3B	55703	broad.mit.edu	37	12	106897897	106897897	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:106897897G>A	ENST00000228347.4	+	27	3359	c.3137G>A	c.(3136-3138)cGt>cAt	p.R1046H	POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1046					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGGCTTGCGTCTCGGGGAA	0.418													6	131					0	0	1	0	0	A	106897897	G	A	106897897	3	1	41	1	0	0	0	0	1	0	0	0	12277	1145	40	1	3243	1	POLR3B	12	106897897	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	96435836	106897897	26953998	21	729											
DCAF11	0	broad.mit.edu	37	14	24592285	24592285	+	Splice_Site	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:24592285C>T	ENST00000446197.3	+	14	2232	c.1506_splice	c.e14+1	p.S502_splice	DCAF11_ENST00000396936.1_Splice_Site_p.S402_splice|DCAF11_ENST00000396941.4_Splice_Site_p.S476_splice|DCAF11_ENST00000559115.1_Splice_Site_p.S502_splice|RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91_splice	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	502						CUL4 RING ubiquitin ligase complex	protein binding	p.S502L(1)									GTCAGCAGTTCGGTGAGGTTG	0.572													14	43					0	0	1	0	0	T	24592285	C	T	24592285	5	4	41	1	0	0	0	0	0	0	1	0	4286	898	31	2	1555	2	DCAF11	14	24592285	Splice_Site	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		24592285	82757255	22	730											
TRIP11	9321	broad.mit.edu	37	14	92470283	92470283	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:92470283T>C	ENST00000267622.4	-	11	4410	c.4037A>G	c.(4036-4038)cAg>cGg	p.Q1346R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1346				QQ -> HE (in Ref. 4; AAB84386).	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTCTTGCTGAAGCAATTC	0.418			T	PDGFRB	AML								17	62					0	0	1	0	0	C	92470283	T	C	92470283	3	2	41	1	0	0	0	0	1	0	0	0	16616	1580	55	4	1946	4	TRIP11	14	92470283	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	67877998	92470283	14879257	23	731											
VPS13C	54832	broad.mit.edu	37	15	62253881	62253881	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr15:62253881T>C	ENST00000261517.5	-	35	3888	c.3815A>G	c.(3814-3816)cAt>cGt	p.H1272R	VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1272					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAACTGATTATGAACTCTGAT	0.383													35	63					0	0	1	0	0	C	62253881	T	C	62253881	3	2	41	1	0	0	0	0	1	0	0	0	17251	1464	51	4	7678	4	VPS13C	15	62253881	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		62253881	40277511	24	732											
MLLT6	4302	broad.mit.edu	37	17	36881820	36881820	+	Missense_Mutation	SNP	A	A	G	rs145698748		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:36881820A>G	ENST00000325718.7	+	20	3342	c.3251A>G	c.(3250-3252)aAa>aGa	p.K1084R		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	1084					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCGCTGACAAAGGAGCCTCA	0.582			T	MLL	AL								4	26					0	0	1	0	0	G	36881820	A	G	36881820	3	3	41	1	0	0	0	0	1	0	0	0	9678	14	1	4	3329	4	MLLT6	17	36881820	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08		36881820	44313390	25	733											
AOC3	8639	broad.mit.edu	37	17	41003755	41003755	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:41003755G>A	ENST00000308423.2	+	1	555	c.395G>A	c.(394-396)aGg>aAg	p.R132K		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	132					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTCTTTGGCAGGCAACCCCAG	0.677													7	31					0	0	1	0	0	A	41003755	G	A	41003755	3	1	41	1	0	0	0	0	1	0	0	0	724	1000	35	3	397	3	AOC3	17	41003755	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	4121935	41003755	40191455	26	734											
THOC1	9984	broad.mit.edu	37	18	246364	246364	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:246364C>T	ENST00000261600.6	-	11	885	c.878G>A	c.(877-879)gGa>gAa	p.G293E	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	293					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACATGTTCTCCTCCTGTTTT	0.274													7	41					0	0	1	0	0	T	246364	C	T	246364	3	4	41	1	0	0	0	0	1	0	0	0	15924	855	30	3	1139	3	THOC1	18	246364	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		246364	77830884	27	735											
TXNDC2	0	broad.mit.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562													4	141					0	0	1	0	0	A	9886961	G	A	9886961	3	1	41	1	0	0	0	0	1	0	0	0	16859	1203	42	3	491	3	TXNDC2	18	9886961	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	9640597	9886961	68190287	28	736											
MBOAT7	79143	broad.mit.edu	37	19	54692324	54692324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr19:54692324delA	ENST00000245615.1	-	2	519	c.39delT	c.(37-39)ctfs	p.L13fs	MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs|MBOAT7_ENST00000431666.2_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	13					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATGGAGATAAGAAGAACCA	0.567											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---						-	54692324	A	-	54692324	7	5	41	1	0	1	0	1	0	0	0	0	9408	349	13	0	1411	0	MBOAT7	19	54692324	Frame_Shift_Del	DEL	A	TCGA-QR-A70K-01A-12D-A35D-08		54692324	4436659	29	737											
PYGB	5834	broad.mit.edu	37	20	25273158	25273158	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:25273158G>A	ENST00000216962.4	+	17	2196	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	696					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CATGGACGGCGCCAACGTGGA	0.647													21	81					0	0	1	0	0	A	25273158	G	A	25273158	3	1	41	1	0	0	0	0	1	0	0	0	12912	1087	38	1	2152	1	PYGB	20	25273158	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		25273158	37752362	30	738											
FAM83D	81610	broad.mit.edu	37	20	37576619	37576619	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:37576619T>A	ENST00000217429.4	+	3	883	c.842T>A	c.(841-843)aTc>aAc	p.I281N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	251					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTGATGGCATCCGCGTGGCA	0.418													12	75					0	0	1	0	0	A	37576619	T	A	37576619	3	1	41	1	0	0	0	0	1	0	0	0	5668	1435	50	5	852	5	FAM83D	20	37576619	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	12303461	37576619	25448901	31	739											
JOSD1	9929	broad.mit.edu	37	22	39085109	39085109	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr22:39085109T>C	ENST00000216039.5	-	3	1019	c.340A>G	c.(340-342)Aac>Gac	p.N114D		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	114	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					CCCATGACGTTAGTGAGGGCA	0.552													7	15					0	0	1	0	0	C	39085109	T	C	39085109	3	2	41	1	0	0	0	0	1	0	0	0	8002	1754	61	4	276	4	JOSD1	22	39085109	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		39085109	12219457	32	740											
FGF16	8823	broad.mit.edu	37	X	76709702	76709702	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chrX:76709702A>G	ENST00000439435.1	+	1	55	c.55A>G	c.(55-57)Act>Gct	p.T19A				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CGGGGAGTGGACTCTGGCCTG	0.428													6	9					0	0	1	0	0	G	76709702	A	G	76709702	3	3	41	1	0	0	0	0	1	0	0	0	5877	275	10	4	58	4	FGF16	23	76709702	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08		76709702	78560858	33	741											
ECE1	1889	broad.mit.edu	37	1	21573845	21573845	+	Silent	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr1:21573845G>A	ENST00000415912.2	-	9	1109	c.984C>T	c.(982-984)ccC>ccT	p.P328P	ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Silent_p.P344P|ECE1_ENST00000264205.6_Silent_p.P341P|ECE1_ENST00000357071.4_Silent_p.P332P	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	344					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTTGATGGCGGGTGCCAAGG	0.537													3	30					0	0	1	0	0	A	21573845	G	A	21573845	2	1	42	1	0	0	0	0	0	0	0	1	4915	1103	39	2		2	ECE1	1	21573845	Silent	SNP	G	TCGA-QR-A70M-01A-11D-A35D-08		21573845	227676776	1	742											
ABCA13	154664	broad.mit.edu	37	7	48314803	48314803	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:48314803T>G	ENST00000435803.1	+	17	5564	c.5540T>G	c.(5539-5541)aTg>aGg	p.M1847R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1847					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATGGGCTCATGTCTTCTTCC	0.448													15	20					0	0	1	0	0	G	48314803	T	G	48314803	3	3	42	1	0	0	0	0	1	0	0	0	31	1464	51	5	5435	5	ABCA13	7	48314803	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08		48314803	110823860	2	743											
DDC	1644	broad.mit.edu	37	7	50595871	50595871	+	Silent	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:50595871C>T	ENST00000444124.2	-	6	878	c.678G>A	c.(676-678)ctG>ctA	p.L226L	DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000357936.5_Silent_p.L226L|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	226					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTCTCTCTCCAGGGCTTCCT	0.512													12	53					0	0	1	0	0	T	50595871	C	T	50595871	2	4	42	1	0	0	0	0	0	0	0	1	4348	581	21	3		3	DDC	7	50595871	Silent	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08	2281068	50595871	108542792	3	744											
SLC13A4	26266	broad.mit.edu	37	7	135370341	135370341	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:135370341C>T	ENST00000354042.4	-	14	2223	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	512						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACAATGGACACGAGGATGCAT	0.567													48	71					0	0	1	0	0	T	135370341	C	T	135370341	3	4	42	1	0	0	0	0	1	0	0	0	14449	536	19	1	358	1	SLC13A4	7	135370341	Missense_Mutation	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08	84774470	135370341	23768322	4	745											
ZNF862	643641	broad.mit.edu	37	7	149545325	149545325	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:149545325T>C	ENST00000223210.4	+	4	988	c.743T>C	c.(742-744)cTg>cCg	p.L248P		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCAGGGCCTCTGGGAGGATTT	0.582													12	10					0	0	1	0	0	C	149545325	T	C	149545325	3	2	42	1	0	0	0	0	1	0	0	0	18238	1580	55	4	757	4	ZNF862	7	149545325	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08	14174984	149545325	9593338	5	746											
WISP1	8840	broad.mit.edu	37	8	134232871	134232871	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr8:134232871G>A	ENST00000250160.6	+	3	503	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	133	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTACAACAACGGCCAGTCCTT	0.667													27	43					0	0	1	0	0	A	134232871	G	A	134232871	3	1	42	1	0	0	0	0	1	0	0	0	17432	1116	39	2	407	2	WISP1	8	134232871	Missense_Mutation	SNP	G	TCGA-QR-A70M-01A-11D-A35D-08		134232871	12131151	6	747											
C10orf71	118461	broad.mit.edu	37	10	50534970	50534977	+	Splice_Site	DEL	ACACACAC	ACACACAC	-	rs72337199		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr10:50534970_50534977delACACACAC	ENST00000323868.4	+	4	2413_2415	c.2074_splice	c.e4-1	p.692_splice	C10orf71_ENST00000374144.3_3'UTR	NM_001135196.1	NP_001128668.1	Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	692								p.?(1)		endometrium(1)	1						AAAACAAGCAacacacacacacacacac	0.505													4	2	---	---	---	---						-	50534977	ACACACAC	-	50534970	8	5	42	1	0	1	0	1	0	0	1	0	1618	58	2	0		0	C10orf71	10	50534970	Splice_Site	DEL	ACACACAC	TCGA-QR-A70M-01A-11D-A35D-08		50534970	84999777	7	748											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			57	10					0	0	1	0	0	C	533874	T	C	533874	3	2	42	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08		533874	134472642	8	749											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													4	106					0	0	1	0	0	C	11058353	T	C	11058353	1	2	42	0	1	0	0	0	0	0	0	0	1290	1769	61	4		4	BAGE2	21	11058353	RNA	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08		11058353	37071542	9	750											
LRRC7	57554	broad.mit.edu	37	1	70504190	70504190	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:70504190G>A	ENST00000310961.5	+	22	3002	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	LRRC7_ENST00000035383.5_Missense_Mutation_p.A857T|LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						centrosome|focal adhesion|nucleolus	protein binding	p.A857T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGGACCGCTTTTCCTTC	0.468													10	39					0	0	1	0	0	A	70504190	G	A	70504190	3	1	43	1	0	0	0	0	1	0	0	0	9065	1087	38	1	2643	1	LRRC7	1	70504190	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		70504190	178746431	1	751											
COL11A1	1301	broad.mit.edu	37	1	103400017	103400017	+	Silent	SNP	T	T	G			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:103400017T>G	ENST00000358392.2	-	46	3941	c.3624A>C	c.(3622-3624)ccA>ccC	p.P1208P	COL11A1_ENST00000512756.1_Silent_p.P1080P|COL11A1_ENST00000370096.3_Silent_p.P1196P|COL11A1_ENST00000353414.4_Silent_p.P1157P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1196	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAGACCTATTGGACCAGGAG	0.468													5	19					0	0	1	0	0	G	103400017	T	G	103400017	2	3	43	1	0	0	0	0	0	0	0	1	3690	1799	63	5		5	COL11A1	1	103400017	Silent	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	32895827	103400017	145850604	2	752	7	2									
COL11A1	1301	broad.mit.edu	37	1	103400018	103400018	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:103400018G>T	ENST00000358392.2	-	46	3940	c.3623C>A	c.(3622-3624)cCa>cAa	p.P1208Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1196Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1196	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGACCTATTGGACCAGGAGG	0.468													5	21					1.23904e-05	1.28329e-05	1	1	0	T	103400018	G	T	103400018	3	4	43	1	0	0	0	0	1	0	0	0	3690	1348	47	5	1921	5	COL11A1	1	103400018	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08	1	103400018	145850603	3	753	7	2									
WARS2	10352	broad.mit.edu	37	1	119575971	119575971	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:119575971T>A	ENST00000235521.4	-	6	672	c.646A>T	c.(646-648)Aag>Tag	p.K216*	WARS2_ENST00000537870.1_Nonsense_Mutation_p.K122*|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	216					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GATTTTACCTTCTTCATGGAT	0.438													17	94					0	0	1	0	0	A	119575971	T	A	119575971	4	1	43	1	0	0	0	0	0	1	0	0	17310	1792	62	5	440	5	WARS2	1	119575971	Nonsense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	16175953	119575971	129674650	4	754											
PLXNA2	5362	broad.mit.edu	37	1	208212983	208212983	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:208212983T>C	ENST00000367033.3	-	24	5240	c.4483A>G	c.(4483-4485)Atc>Gtc	p.I1495V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1495					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGTACTCGATCTGCTGCCGG	0.582													10	49					0	0	1	0	0	C	208212983	T	C	208212983	3	2	43	1	0	0	0	0	1	0	0	0	12168	1435	50	4	1237	4	PLXNA2	1	208212983	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	88637012	208212983	41037638	5	755											
ALS2	57679	broad.mit.edu	37	2	202619377	202619377	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr2:202619377T>C	ENST00000264276.6	-	6	1861	c.1489A>G	c.(1489-1491)Aga>Gga	p.R497G		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	497					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCAGCCTTTCTTAAGAGCCTG	0.498													11	50					0	0	1	0	0	C	202619377	T	C	202619377	3	2	43	1	0	0	0	0	1	0	0	0	546	1617	56	4	3600	4	ALS2	2	202619377	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		202619377	40579996	6	756											
VHL	7428	broad.mit.edu	37	3	10188286	10188286	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr3:10188286C>G	ENST00000256474.2	+	2	1269	c.429C>G	c.(427-429)gaC>gaG	p.D143E	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	143	Involved in binding to CCT complex.		D -> E (in VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G144fs*14(4)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.Q145fs*30(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCAATGTTGACGGACAGCCTA	0.423		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				59	59					0	0	1	0	0	G	10188286	C	G	10188286	3	3	43	1	0	0	0	0	1	0	0	0	17222	535	19	5	435	5	VHL	3	10188286	Missense_Mutation	SNP	C	TCGA-QR-A70N-01A-12D-A35D-08		10188286	187834144	7	757											
PCDHGA6	0	broad.mit.edu	37	5	140753701	140753701	+	Silent	SNP	C	C	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr5:140753701C>A	ENST00000517434.1	+	1	51	c.51C>A	c.(49-51)ctC>ctA	p.L17L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTCCTCACGCTCCTGG	0.597													3	17					0.004672	0.004672	1	1	0	A	140753701	C	A	140753701	2	1	43	1	0	0	0	0	0	0	0	1	11605	813	29	5		5	PCDHGA6	5	140753701	Silent	SNP	C	TCGA-QR-A70N-01A-12D-A35D-08		140753701	40161559	8	758											
WHSC1L1	54904	broad.mit.edu	37	8	38175553	38175553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr8:38175553G>T	ENST00000316985.3	-	10	2376	c.1859C>A	c.(1858-1860)tCg>tAg	p.S620*	WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron	NM_017778.2	NP_060248.2	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	620					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCGGTCCGCCGACCCTGTGGA	0.557			T	NUP98	AML								21	23					1.87028e-06	2.00882e-06	1	1	0	T	38175553	G	T	38175553	4	4	43	1	0	0	0	0	0	1	0	0	17423	1059	37	5	2601	5	WHSC1L1	8	38175553	Nonsense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		38175553	108188469	9	759											
POTEA	340441	broad.mit.edu	37	8	43155495	43155496	+	RNA	INS	-	-	G			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr8:43155495_43155496insG	ENST00000522175.2	+	0	590							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCCAAGGGAAGAGCAGTGTGT	0.386													4	3	---	---	---	---						G	43155496	-	G	43155495	6	5	43	0	1	1	1	0	0	0	0	0	12309	87	3	0		0	POTEA	8	43155495	RNA	INS	-	TCGA-QR-A70N-01A-12D-A35D-08	4979942	43155495	103208527	10	760											
TRAF2	7186	broad.mit.edu	37	9	139804402	139804402	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr9:139804402T>G	ENST00000359662.3	+	6	760	c.715T>G	c.(715-717)Tta>Gta	p.L239V	TRAF2_ENST00000247668.2_Missense_Mutation_p.L187V|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.L187V			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	187				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CAAGTTCCCCTTAACTTGTGA	0.627													13	14					0	0	1	0	0	G	139804402	T	G	139804402	3	3	43	1	0	0	0	0	1	0	0	0	16499	1606	56	5	577	5	TRAF2	9	139804402	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		139804402	1409029	11	761											
OR52D1	390066	broad.mit.edu	37	11	5510364	5510364	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr11:5510364T>A	ENST00000322641.5	+	1	450	c.428T>A	c.(427-429)gTc>gAc	p.V143D	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCATGCTGTCATAGGCAGA	0.483													6	113					0	0	1	0	0	A	5510364	T	A	5510364	3	1	43	1	0	0	0	0	1	0	0	0	11162	1667	58	5	430	5	OR52D1	11	5510364	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		5510364	129496152	12	762											
PIK3C2A	5286	broad.mit.edu	37	11	17111301	17111301	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr11:17111301G>A	ENST00000265970.7	-	32	5044	c.5045C>T	c.(5044-5046)gCg>gTg	p.A1682V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1302V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1682					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTATGTTGCCGCAGTCAGCTG	0.428													3	64					0	0	1	0	0	A	17111301	G	A	17111301	3	1	43	1	0	0	0	0	1	0	0	0	11957	1087	38	1	19	1	PIK3C2A	11	17111301	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08	11600937	17111301	117895215	13	763											
CD163	9332	broad.mit.edu	37	12	7651662	7651662	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr12:7651662A>T	ENST00000359156.4	-	4	782	c.580T>A	c.(580-582)Tct>Act	p.S194T	CD163_ENST00000396620.3_Missense_Mutation_p.S194T|CD163_ENST00000541972.1_Missense_Mutation_p.S182T|CD163_ENST00000432237.2_Missense_Mutation_p.S194T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	194	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAAATGACAGATGCATGATCT	0.423													8	160					0	0	1	0	0	T	7651662	A	T	7651662	3	4	43	1	0	0	0	0	1	0	0	0	2989	333	12	5	2942	5	CD163	12	7651662	Missense_Mutation	SNP	A	TCGA-QR-A70N-01A-12D-A35D-08		7651662	126200233	14	764											
ZFC3H1	196441	broad.mit.edu	37	12	72030395	72030395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr12:72030395delG	ENST00000378743.3	-	9	2333	c.1975delC	c.(1975-1977)tgfs	p.L659fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	659					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAATTGTTCAGAACTGGAGGT	0.383													22	56	---	---	---	---						-	72030395	G	-	72030395	7	5	43	1	0	1	0	1	0	0	0	0	17691	933	33	0	4102	0	ZFC3H1	12	72030395	Frame_Shift_Del	DEL	G	TCGA-QR-A70N-01A-12D-A35D-08	64378733	72030395	61821500	15	765											
CCDC40	55036	broad.mit.edu	37	17	78058656	78058656	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr17:78058656G>A	ENST00000397545.4	+	13	2131	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	CCDC40_ENST00000374877.3_Missense_Mutation_p.V702M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	702					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGACCAGGACGTGAAGAAAGT	0.562													8	22					0	0	1	0	0	A	78058656	G	A	78058656	3	1	43	1	0	0	0	0	1	0	0	0	2831	1145	40	1	2154	1	CCDC40	17	78058656	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		78058656	3136554	16	766											
ZNF493	284443	broad.mit.edu	37	19	21606782	21606782	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr19:21606782A>G	ENST00000392288.2	+	4	1430	c.1321A>G	c.(1321-1323)Acc>Gcc	p.T441A	ZNF493_ENST00000355504.4_Missense_Mutation_p.T313A|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T313A(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATGTGGCAAAACCTTTAGTGT	0.338													3	36					0	0	1	0	0	G	21606782	A	G	21606782	3	3	43	1	0	0	0	0	1	0	0	0	18001	43	2	4	1398	4	ZNF493	19	21606782	Missense_Mutation	SNP	A	TCGA-QR-A70N-01A-12D-A35D-08		21606782	37522201	17	767											
MAP3K10	4294	broad.mit.edu	37	19	40719906	40719917	+	In_Frame_Del	DEL	CCCTCCCCACCA	CCCTCCCCACCA	-			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr19:40719906_40719917delCCCTCCCCACCA	ENST00000253055.3	+	9	2608_2619	c.2320_2331delCCCTCCCCACCA	c.(2320-2331)del	p.PSPP778del		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	778					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCGGccgcgccctccccaccaccctccccgc	0.717													7	5	---	---	---	---						-	40719917	CCCTCCCCACCA	-	40719906	7	5	43	1	0	1	0	1	0	0	0	0	9294	739	26	0	2354	0	MAP3K10	19	40719906	In_Frame_Del	DEL	CCCTCCCCACCA	TCGA-QR-A70N-01A-12D-A35D-08	19113124	40719906	18409077	18	768											
PRKAA2	5563	broad.mit.edu	37	1	57111088	57111089	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:57111088_57111089insG	ENST00000371244.4	+	1	94_95	c.28_29insG	c.(28-30)ggtfs	p.G10fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	10					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCACGACGGGCGGGTGAAGATC	0.703													2	4	---	---	---	---						G	57111089	-	G	57111088	7	5	44	1	0	1	1	0	0	0	0	0	12546	759	27	0	30	0	PRKAA2	1	57111088	Frame_Shift_Ins	INS	-	TCGA-QR-A70O-01A-11D-A35D-08		57111088	192139533	1	769											
LEFTY1	10637	broad.mit.edu	37	1	226076584	226076584	+	Silent	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:226076584G>A	ENST00000272134.5	-	1	262	c.183C>T	c.(181-183)taC>taT	p.Y61Y	LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	61					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCAGGGCCACGTACTGGGCCC	0.697													7	16					0	0	1	0	0	A	226076584	G	A	226076584	2	1	44	1	0	0	0	0	0	0	0	1	8754	1140	40	1		1	LEFTY1	1	226076584	Silent	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	168965496	226076584	23174037	2	770											
SULT6B1	391365	broad.mit.edu	37	2	37406671	37406671	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:37406671G>T	ENST00000535679.1	-	4	458	c.459C>A	c.(457-459)caC>caA	p.H153Q	SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	153						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GGACATCGTTGTGGAAATGCA	0.363													41	63					6.68952e-21	7.50532e-21	1	1	0	T	37406671	G	T	37406671	3	4	44	1	0	0	0	0	1	0	0	0	15440	1368	48	5	468	5	SULT6B1	2	37406671	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08		37406671	205792702	3	771											
CAPG	822	broad.mit.edu	37	2	85628999	85628999	+	Silent	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:85628999C>T	ENST00000263867.4	-	3	354	c.105G>A	c.(103-105)gcG>gcA	p.A35A	CAPG_ENST00000409921.1_Silent_p.A35A|CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	35					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGTTCTCTTGCGCCACAGGCA	0.597													4	129					0	0	1	0	0	T	85628999	C	T	85628999	2	4	44	1	0	0	0	0	0	0	0	1	2639	755	27	1		1	CAPG	2	85628999	Silent	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	48222328	85628999	157570374	4	772											
CMYA5	202333	broad.mit.edu	37	5	79031172	79031172	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:79031172A>G	ENST00000446378.2	+	2	6615	c.6584A>G	c.(6583-6585)aAa>aGa	p.K2195R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2195						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGATAACAAAGTTGCTGAA	0.418													5	80					0	0	1	0	0	G	79031172	A	G	79031172	3	3	44	1	0	0	0	0	1	0	0	0	3613	14	1	4	6590	4	CMYA5	5	79031172	Missense_Mutation	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		79031172	101884088	5	773											
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1117_splice	c.e9+1	p.Y372_splice	HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373													4	101					0	0	1	0	0	A	179044053	G	A	179044053	5	1	44	1	0	0	0	0	0	0	1	0	7307	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	100012881	179044053	1871207	6	774											
OR2A2	442361	broad.mit.edu	37	7	143807200	143807200	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:143807200C>A	ENST00000408979.2	+	1	594	c.525C>A	c.(523-525)caC>caA	p.H175Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTGAACCACCTCTTCTGTG	0.522													29	105					9.39395e-14	1.02886e-13	1	1	0	A	143807200	C	A	143807200	3	1	44	1	0	0	0	0	1	0	0	0	11025	506	18	5	527	5	OR2A2	7	143807200	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08		143807200	15331463	7	775											
CREB3	10488	broad.mit.edu	37	9	35736088	35736089	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:35736088_35736089delGA	ENST00000353704.2	+	7	1093_1094	c.655_656delGA	c.(655-657)gfs	p.E219fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	243	Leucine-zipper.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CATGGTGATTGAGATATCAAAC	0.52											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	84	---	---	---	---						-	35736089	GA	-	35736088	7	5	44	1	0	1	0	1	0	0	0	0	3878	1291	45	0	681	0	CREB3	9	35736088	Frame_Shift_Del	DEL	GA	TCGA-QR-A70O-01A-11D-A35D-08		35736088	105477343	8	776											
SLC27A4	10999	broad.mit.edu	37	9	131118065	131118065	+	Silent	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:131118065G>A	ENST00000300456.3	+	12	1881	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	SLC27A4_ENST00000372870.1_Silent_p.L182L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	588					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCCTGAGCTGCACAAAACAG	0.612													4	93					0	0	1	0	0	A	131118065	G	A	131118065	2	1	44	1	0	0	0	0	0	0	0	1	14583	1306	46	3		3	SLC27A4	9	131118065	Silent	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	95381977	131118065	10095366	9	777											
ITPR2	3709	broad.mit.edu	37	12	26628350	26628350	+	Splice_Site	SNP	A	A	C			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:26628350A>C	ENST00000381340.3	-	45	6637	c.6219_splice	c.e45-1	p.V2074_splice		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2074					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATCACATCCACCTATCCAAA	0.358													6	37					0	0	1	0	0	C	26628350	A	C	26628350	5	2	44	1	0	0	0	0	0	0	1	0	7965	173	6	5	1936	5	ITPR2	12	26628350	Splice_Site	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		26628350	107223545	10	778											
TIMELESS	8914	broad.mit.edu	37	12	56822781	56822781	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:56822781C>A	ENST00000229201.4	-	11	1341	c.1187G>T	c.(1186-1188)gGc>gTc	p.G396V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G397V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	397					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAAACCAGGCCTGGCCGGAA	0.537													27	25					4.22769e-11	4.52265e-11	1	1	0	A	56822781	C	A	56822781	3	1	44	1	0	0	0	0	1	0	0	0	15964	739	26	5	2512	5	TIMELESS	12	56822781	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	30194431	56822781	77029114	11	779											
NUP107	57122	broad.mit.edu	37	12	69115645	69115645	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:69115645G>A	ENST00000229179.4	+	16	1668	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	NUP107_ENST00000539906.1_Missense_Mutation_p.E417K|NUP107_ENST00000378905.2_Missense_Mutation_p.E295K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	446					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGACACCTGGGAAGACACAGT	0.438													4	81					0	0	1	0	0	A	69115645	G	A	69115645	3	1	44	1	0	0	0	0	1	0	0	0	10801	1175	41	3	1398	3	NUP107	12	69115645	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	12292864	69115645	64736250	12	780											
KIAA0247	9766	broad.mit.edu	37	14	70170160	70170160	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr14:70170160C>T	ENST00000342745.4	+	3	483	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	57	Sushi.					integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATCTGCCACCCCCGGCCCTGC	0.567													18	66					0	0	1	0	0	T	70170160	C	T	70170160	3	4	44	1	0	0	0	0	1	0	0	0	8207	623	22	3	176	3	KIAA0247	14	70170160	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08		70170160	37179380	13	781											
CEACAM5	1048	broad.mit.edu	37	19	42213811	42213811	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:42213811C>T	ENST00000221992.6	+	2	391	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	93	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACCCCAGGGCCCGCATACAG	0.458													114	115					0	0	1	0	0	T	42213811	C	T	42213811	3	4	44	1	0	0	0	0	1	0	0	0	3217	739	26	3	283	3	CEACAM5	19	42213811	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08		42213811	16915172	14	782											
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443													5	287					0	0	1	0	0	T	43528993	C	T	43528993	3	4	44	1	0	0	0	0	1	0	0	0	12703	739	26	3	743	3	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	1315182	43528993	15599990	15	783											
PRR12	57479	broad.mit.edu	37	19	50102938	50102938	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:50102938G>A	ENST00000418929.2	+	5	4100	c.4088G>A	c.(4087-4089)tGc>tAc	p.C1363Y		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	542							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTTCACCCTGCAAGCGGCTT	0.642													3	20					0	0	1	0	0	A	50102938	G	A	50102938	3	1	44	1	0	0	0	0	1	0	0	0	12636	1319	46	3	4106	3	PRR12	19	50102938	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	6573945	50102938	9026045	16	784											
ZNF419	79744	broad.mit.edu	37	19	58004913	58004913	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58004913C>G	ENST00000424930.2	+	5	1220	c.991C>G	c.(991-993)Ctc>Gtc	p.L331V	ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V|ZNF419_ENST00000221735.7_Missense_Mutation_p.L330V|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAACTCCAGCCTCATGAAACA	0.408													30	26					0	0	1	0	0	G	58004913	C	G	58004913	3	3	44	1	0	0	0	0	1	0	0	0	17953	681	24	5	1009	5	ZNF419	19	58004913	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	7901975	58004913	1124070	17	785											
ZNF773	374928	broad.mit.edu	37	19	58018415	58018415	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58018415C>G	ENST00000282292.4	+	4	1092	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAACTCCAGCCTCATGAAACA	0.423													15	144					0	0	1	0	0	G	58018415	C	G	58018415	3	3	44	1	0	0	0	0	1	0	0	0	18195	681	24	5	966	5	ZNF773	19	58018415	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	13502	58018415	1110568	18	786											
ZBTB45	84878	broad.mit.edu	37	19	59028621	59028621	+	Silent	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:59028621C>G	ENST00000594051.1	-	2	900	c.420G>C	c.(418-420)gtG>gtC	p.V140V	ZBTB45_ENST00000600990.1_Silent_p.V140V|ZBTB45_ENST00000354590.3_Silent_p.V140V			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	140	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGGCGGGGGCACAGGGGTGG	0.701											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	1	0	0	G	59028621	C	G	59028621	2	3	44	1	0	0	0	0	0	0	0	1	17605	697	25	5		5	ZBTB45	19	59028621	Silent	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	1010206	59028621	100362	19	787											
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr21:11085531_11085533delAAA	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)		caccaccactaaaaccacgacca	0.596													4	4	---	---	---	---						-	11085533	AAA	-	11085531	6	5	44	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-QR-A70O-01A-11D-A35D-08		11085531	37044364	20	788											
FAM47C	442444	broad.mit.edu	37	X	37026997	37026997	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chrX:37026997A>C	ENST00000358047.3	+	1	566	c.514A>C	c.(514-516)Act>Cct	p.T172P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	172										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGAAGACAACTGACGAACC	0.597													5	30					0	0	1	0	0	C	37026997	A	C	37026997	3	2	44	1	0	0	0	0	1	0	0	0	5607	43	2	5	516	5	FAM47C	23	37026997	Missense_Mutation	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		37026997	118243563	21	789											
RSBN1	54665	broad.mit.edu	37	1	114354414	114354414	+	Silent	SNP	G	G	A	rs147797898		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:114354414G>A	ENST00000261441.5	-	1	684	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	207						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCGGTTCCGCAGGAGCTGG	0.632													5	20					0	0	1	0	0	A	114354414	G	A	114354414	2	1	45	1	0	0	0	0	0	0	0	1	13748	1079	38	1		1	RSBN1	1	114354414	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		114354414	134896207	1	790											
SPAG17	200162	broad.mit.edu	37	1	118548121	118548121	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:118548121C>T	ENST00000336338.5	-	32	4757	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cilium|flagellar axoneme|microtubule		p.E1564D(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCGCAGCTGCTCACGCTTTT	0.443													27	12					0	0	1	0	0	T	118548121	C	T	118548121	2	4	45	1	0	0	0	0	0	0	0	1	15035	796	28	3		3	SPAG17	1	118548121	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	4193707	118548121	130702500	2	791											
FAM71A	149647	broad.mit.edu	37	1	212798288	212798288	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:212798288C>T	ENST00000294829.3	+	1	500	c.69C>T	c.(67-69)acC>acT	p.T23T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	23										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTTCAACACCACCATGGGGA	0.488													14	37					0	0	1	0	0	T	212798288	C	T	212798288	2	4	45	1	0	0	0	0	0	0	0	1	5642	581	21	3		3	FAM71A	1	212798288	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	94250167	212798288	36452333	3	792											
MTR	4548	broad.mit.edu	37	1	237054510	237054510	+	Missense_Mutation	SNP	C	C	T	rs139771804		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:237054510C>T	ENST00000366577.5	+	29	3479	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	MTR_ENST00000535889.1_Missense_Mutation_p.R978W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1029	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCCGGGCCCGGGGTGTGGT	0.522													20	73					0	0	1	0	0	T	237054510	C	T	237054510	3	4	45	1	0	0	0	0	1	0	0	0	10006	643	23	2	3199	2	MTR	1	237054510	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	24256222	237054510	12196111	4	793											
SUPT7L	9913	broad.mit.edu	37	2	27876404	27876404	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:27876404C>G	ENST00000337768.5	-	6	1762	c.1193G>C	c.(1192-1194)gGg>gCg	p.G398A	SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A|SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	398					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGACCCCATGAGGCT	0.498													19	28					0	0	1	0	0	G	27876404	C	G	27876404	3	3	45	1	0	0	0	0	1	0	0	0	15457	623	22	5	55	5	SUPT7L	2	27876404	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		27876404	215322969	5	794											
FAM179A	165186	broad.mit.edu	37	2	29225514	29225514	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:29225514C>T	ENST00000379558.4	+	5	891	c.540C>T	c.(538-540)agC>agT	p.S180S	FAM179A_ENST00000403861.2_Silent_p.S180S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	180							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCAGAGCATCCCTACCA	0.662													5	9					0	0	1	0	0	T	29225514	C	T	29225514	2	4	45	1	0	0	0	0	0	0	0	1	5535	709	25	3		3	FAM179A	2	29225514	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1349110	29225514	213973859	6	795											
VIT	5212	broad.mit.edu	37	2	36982171	36982171	+	Translation_Start_Site	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:36982171G>A	ENST00000497382.1	+	0	570				VIT_ENST00000401530.1_Missense_Mutation_p.R128Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000389975.3_Missense_Mutation_p.R128Q|VIT_ENST00000457137.2_Missense_Mutation_p.R128Q			Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCCTACCACGATGGAGAGAA	0.443													3	42					0	0	1	0	0	A	36982171	G	A	36982171	1	1	45	1	0	0	0	0	0	0	0	0	17231	1058	37	2		2	VIT	2	36982171	Translation_Start_Site	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	7756657	36982171	206217202	7	796											
COL6A3	1293	broad.mit.edu	37	2	238283663	238283663	+	Splice_Site	SNP	A	A	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:238283663A>T	ENST00000295550.4	-	8	3523	c.3070_splice	c.e8-1	p.V1024_splice	COL6A3_ENST00000409809.1_Splice_Site_p.V818_splice|COL6A3_ENST00000353578.4_Splice_Site_p.V818_splice|COL6A3_ENST00000392003.2_Splice_Site_p.V617_splice|COL6A3_ENST00000347401.3_Splice_Site_p.V823_splice|COL6A3_ENST00000346358.4_Splice_Site_p.V824_splice|COL6A3_ENST00000472056.1_Splice_Site_p.V417_splice|COL6A3_ENST00000392004.3_Splice_Site_p.V818_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1024	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACCTGAAACTGGGAGGAG	0.522													5	11					0	0	1	0	0	T	238283663	A	T	238283663	5	4	45	1	0	0	0	0	0	0	1	0	3724	57	2	5	6657	5	COL6A3	2	238283663	Splice_Site	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08	201301492	238283663	4915710	8	797											
RNPEPL1	57140	broad.mit.edu	37	2	241513564	241513564	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241513564A>G	ENST00000270357.3	+	5	873	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	94					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CTCCTTCCCCATCGTGGCCAT	0.627													10	21					0	0	1	0	0	G	241513564	A	G	241513564	3	3	45	1	0	0	0	0	1	0	0	0	13562	217	8	4	290	4	RNPEPL1	2	241513564	Missense_Mutation	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08	3229901	241513564	1685809	9	798											
KIF1A	547	broad.mit.edu	37	2	241702149	241702151	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241702149_241702151delCTC	ENST00000498729.2	-	23	2347_2349	c.2101_2103delGAG	c.(2101-2103)del	p.E701del	KIF1A_ENST00000320389.7_In_Frame_Del_p.E692del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	692					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCCTCGGGCTCCTCCTCCTCC	0.621													3	6	---	---	---	---						-	241702151	CTC	-	241702149	7	5	45	1	0	1	0	1	0	0	0	0	8325	796	28	0	3100	0	KIF1A	2	241702149	In_Frame_Del	DEL	CTC	TCGA-QR-A70P-01A-11D-A35D-08	188585	241702149	1497224	10	799											
KIF15	56992	broad.mit.edu	37	3	44847335	44847335	+	Splice_Site	SNP	A	A	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr3:44847335A>G	ENST00000326047.4	+	16	1978		c.e16-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATATCTATTAGGAAAAGGCA	0.343													9	69					0	0	1	0	0	G	44847335	A	G	44847335	5	3	45	1	0	0	0	0	0	0	1	0	8319	434	15	4	1890	4	KIF15	3	44847335	Splice_Site	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08		44847335	153175095	11	800											
CDKL3	51265	broad.mit.edu	37	5	133648028	133648028	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr5:133648028T>C	ENST00000521118.1	-	7	950	c.836A>G	c.(835-837)gAt>gGt	p.D279G	CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000265334.4_Missense_Mutation_p.D279G|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000536186.1_5'UTR			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	279	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAAAGATCACTAGATGA	0.328													3	10					0	0	1	0	0	C	133648028	T	C	133648028	3	2	45	1	0	0	0	0	1	0	0	0	3177	1435	50	4	974	4	CDKL3	5	133648028	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		133648028	47267232	12	801											
HOXA1	3198	broad.mit.edu	37	7	27135188	27135188	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr7:27135188T>A	ENST00000343060.4	-	1	405	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	115						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCTGCTTCCTGATTTAACGC	0.562													3	66					0	0	1	0	0	A	27135188	T	A	27135188	3	1	45	1	0	0	0	0	1	0	0	0	7329	1580	55	5	671	5	HOXA1	7	27135188	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		27135188	132003475	13	802											
RBPMS	11030	broad.mit.edu	37	8	30402178	30402180	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr8:30402178_30402180delCAC	ENST00000520191.1	+	6	683_685	c.253_255delCAC	c.(253-255)del	p.H86del	RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000517860.1_In_Frame_Del_p.H190del|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000519647.1_Intron			Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCACTCACTTCACCACCAGTCCT	0.502													27	30	---	---	---	---						-	30402180	CAC	-	30402178	7	5	45	1	0	1	0	1	0	0	0	0	13215	841	29	0		0	RBPMS	8	30402178	In_Frame_Del	DEL	CAC	TCGA-QR-A70P-01A-11D-A35D-08		30402178	115961844	14	803											
TRHR	7201	broad.mit.edu	37	8	110100449	110100449	+	Silent	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr8:110100449T>C	ENST00000518632.1	+	2	1059	c.708T>C	c.(706-708)aaT>aaC	p.N236N	TRHR_ENST00000311762.2_Silent_p.N236N			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	236						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CATGGAAAAATGATTCAACCC	0.373													13	20					0	0	1	0	0	C	110100449	T	C	110100449	2	2	45	1	0	0	0	0	0	0	0	1	16541	1461	51	4		4	TRHR	8	110100449	Silent	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08	79698271	110100449	36263573	15	804											
SLC44A1	23446	broad.mit.edu	37	9	108128699	108128699	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr9:108128699T>A	ENST00000374720.3	+	12	1730	c.1483T>A	c.(1483-1485)Tat>Aat	p.Y495N	SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	495						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTGCCTAAATTATTTAAATCA	0.299													18	16					0	0	1	0	0	A	108128699	T	A	108128699	3	1	45	1	0	0	0	0	1	0	0	0	14690	1754	61	5	1529	5	SLC44A1	9	108128699	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		108128699	33084732	16	805											
PHRF1	57661	broad.mit.edu	37	11	605191	605191	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:605191C>T	ENST00000264555.5	+	11	1353	c.1225C>T	c.(1225-1227)Ccg>Tcg	p.P409S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	409							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGCTGCATCCCGTCAGTGTT	0.557													21	25					0	0	1	0	0	T	605191	C	T	605191	3	4	45	1	0	0	0	0	1	0	0	0	11909	623	22	3	1263	3	PHRF1	11	605191	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		605191	134401325	17	806											
CKAP5	9793	broad.mit.edu	37	11	46791574	46791574	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:46791574G>A	ENST00000529230.1	-	26	3307	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	CKAP5_ENST00000312055.5_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P|CKAP5_ENST00000354558.3_Silent_p.P1087P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1087					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGCTTTAGTGGGTGGAGCAG	0.448													30	44					0	0	1	0	0	A	46791574	G	A	46791574	2	1	45	1	0	0	0	0	0	0	0	1	3468	1335	47	3		3	CKAP5	11	46791574	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	46186383	46791574	88214942	18	807											
NCKAP1L	3071	broad.mit.edu	37	12	54917726	54917726	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:54917726G>C	ENST00000293373.6	+	20	2221	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	714					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCACCTGGAGGCCAGACTCA	0.443													18	34					0	0	1	0	0	C	54917726	G	C	54917726	3	2	45	1	0	0	0	0	1	0	0	0	10269	991	35	5	2220	5	NCKAP1L	12	54917726	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		54917726	78934169	19	808											
RNF10	9921	broad.mit.edu	37	12	121002881	121002881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:121002881C>T	ENST00000325954.4	+	11	2133	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	558					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGATGTTCGACAGCGTCA	0.453													42	67					0	0	1	0	0	T	121002881	C	T	121002881	4	4	45	1	0	0	0	0	0	1	0	0	13474	876	31	2	1714	2	RNF10	12	121002881	Nonsense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	66085155	121002881	12849014	20	809											
SIX4	51804	broad.mit.edu	37	14	61190752	61190752	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190752G>T	ENST00000216513.4	-	1	100	c.41C>A	c.(40-42)gCg>gAg	p.A14E		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTTGATGTCCGCCGCACTTGC	0.607													23	42					4.59853e-10	4.70802e-10	1	1	0	T	61190752	G	T	61190752	3	4	45	1	0	0	0	0	1	0	0	0	14404	1087	38	5	2316	5	SIX4	14	61190752	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		61190752	46158788	21	810	8	2									
SIX4	51804	broad.mit.edu	37	14	61190753	61190753	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190753C>T	ENST00000216513.4	-	1	99	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTGATGTCCGCCGCACTTGCG	0.607													22	42					0	0	1	0	0	T	61190753	C	T	61190753	3	4	45	1	0	0	0	0	1	0	0	0	14404	739	26	3	2317	3	SIX4	14	61190753	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1	61190753	46158787	22	811	8	2									
STON2	85439	broad.mit.edu	37	14	81743629	81743629	+	Missense_Mutation	SNP	G	G	A	rs148063041		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:81743629G>A	ENST00000555447.1	-	6	2438	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	STON2_ENST00000267540.2_Missense_Mutation_p.R676W	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	676	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCTGAACCGCATTAGCTCA	0.537													3	42					0	0	1	0	0	A	81743629	G	A	81743629	3	1	45	1	0	0	0	0	1	0	0	0	15374	1086	38	1	697	1	STON2	14	81743629	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	20552876	81743629	25605911	23	812											
CFDP1	10428	broad.mit.edu	37	16	75446587	75446587	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr16:75446587T>C	ENST00000283882.3	-	3	380	c.248A>G	c.(247-249)gAg>gGg	p.E83G	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	83	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						ACTGCTTCCCTCAGATTCTGA	0.493													4	129					0	0	1	0	0	C	75446587	T	C	75446587	3	2	45	1	0	0	0	0	1	0	0	0	3304	1551	54	4	671	4	CFDP1	16	75446587	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		75446587	14908166	24	813											
CCDC144A	9720	broad.mit.edu	37	17	16665777	16665777	+	Silent	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:16665777T>C	ENST00000443444.2	+	14	3957	c.3817T>C	c.(3817-3819)Ttg>Ctg	p.L1273L	CCDC144A_ENST00000399273.1_Silent_p.L1273L|CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000360524.8_Silent_p.L1273L			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1273																	TAAAACCGAATTGGAAAGATA	0.333													3	3					0	0	1	0	0	C	16665777	T	C	16665777	2	2	45	1	0	0	0	0	0	0	0	1	2795	1490	52	4		4	CCDC144A	17	16665777	Silent	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		16665777	64529433	25	814											
LGALS9C	654346	broad.mit.edu	37	17	18396088	18396088	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:18396088G>A	ENST00000328114.6	+	10	920	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000584941.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	280	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GCTGTGGTCCGTAACACCCAG	0.587													4	66					0	0	1	0	0	A	18396088	G	A	18396088	3	1	45	1	0	0	0	0	1	0	0	0	8790	1145	40	1	877	1	LGALS9C	17	18396088	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	1730311	18396088	62799122	26	815											
LGALS9B	284194	broad.mit.edu	37	17	20354879	20354879	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:20354879C>T	ENST00000423676.3	-	10	902	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	280	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGGGTGTTACGGACCACAGC	0.587													14	19					0	0	1	0	0	T	20354879	C	T	20354879	3	4	45	1	0	0	0	0	1	0	0	0	8789	536	19	1	239	1	LGALS9B	17	20354879	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1958791	20354879	60840331	27	816											
TANC2	26115	broad.mit.edu	37	17	61499249	61499249	+	Missense_Mutation	SNP	G	G	A	rs143701650	by1000genomes	TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:61499249G>A	ENST00000424789.2	+	25	5910	c.5906G>A	c.(5905-5907)cGa>cAa	p.R1969Q	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1969							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCTGTCCCGAGACTCTCGG	0.532													13	24					0	0	1	0	0	A	61499249	G	A	61499249	3	1	45	1	0	0	0	0	1	0	0	0	15602	1058	37	2	6004	2	TANC2	17	61499249	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	41144370	61499249	19695961	28	817											
MUC16	94025	broad.mit.edu	37	19	9075100	9075100	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:9075100C>T	ENST00000397910.4	-	3	12549	c.12346G>A	c.(12346-12348)Gcc>Acc	p.A4116T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4118	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGGAGGCTGTGGCTGAT	0.493													8	38					0	0	1	0	0	T	9075100	C	T	9075100	3	4	45	1	0	0	0	0	1	0	0	0	10021	797	28	3	31505	3	MUC16	19	9075100	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		9075100	50053883	29	818											
ANKRD27	84079	broad.mit.edu	37	19	33113510	33113510	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:33113510C>G	ENST00000306065.4	-	18	1803	c.1645G>C	c.(1645-1647)Gtt>Ctt	p.V549L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	549					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGTAGTAAACCAGAGCCTTC	0.547													3	57					0	0	1	0	0	G	33113510	C	G	33113510	3	3	45	1	0	0	0	0	1	0	0	0	651	507	18	5	1555	5	ANKRD27	19	33113510	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	24038410	33113510	26015473	30	819											
ZNF780A	284323	broad.mit.edu	37	19	40580901	40580901	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:40580901T>C	ENST00000450241.2	-	6	1657	c.1346A>G	c.(1345-1347)aAt>aGt	p.N449S	ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.N483S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGCCACGATTGAAGGCCTT	0.423													46	47					0	0	1	0	0	C	40580901	T	C	40580901	3	2	45	1	0	0	0	0	1	0	0	0	18201	1493	52	4	608	4	ZNF780A	19	40580901	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08	7467391	40580901	18548082	31	820											
PSG8	0	broad.mit.edu	37	19	43262332	43262332	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:43262332G>A	ENST00000404209.4	-	3	627	c.531C>T	c.(529-531)agC>agT	p.S177S	PSG8_ENST00000306511.4_Silent_p.S177S|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	177	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACCACAGGTAGCTTGCGTCCG	0.527													5	246					0	0	1	0	0	A	43262332	G	A	43262332	2	1	45	1	0	0	0	0	0	0	0	1	12710	962	34	3		3	PSG8	19	43262332	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	2681431	43262332	15866651	32	821											
MYH14	79784	broad.mit.edu	37	19	50771562	50771564	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:50771562_50771564delGAG	ENST00000440075.2	+	24	3018_3020	c.2971_2973delGAG	c.(2971-2973)del	p.E994del	MYH14_ENST00000425460.1_In_Frame_Del_p.E961del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000596571.1_In_Frame_Del_p.E953del			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	953					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCGCGTGGGCGAGGAGGAGGAGT	0.655													2	4	---	---	---	---						-	50771564	GAG	-	50771562	7	5	45	1	0	1	0	1	0	0	0	0	10081	1059	37	0	3061	0	MYH14	19	50771562	In_Frame_Del	DEL	GAG	TCGA-QR-A70P-01A-11D-A35D-08	7509230	50771562	8357421	33	822											
PAX1	5075	broad.mit.edu	37	20	21687217	21687217	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:21687217C>A	ENST00000398485.2	+	2	482	c.428C>A	c.(427-429)tCc>tAc	p.S143Y	PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	143	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCCGCGTATCCCACGGCTGC	0.682													19	22					8.00594e-06	8.00594e-06	1	1	0	A	21687217	C	A	21687217	3	1	45	1	0	0	0	0	1	0	0	0	11525	855	30	5	434	5	PAX1	20	21687217	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		21687217	41338303	34	823											
SEMG2	6407	broad.mit.edu	37	20	43850691	43850691	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:43850691C>A	ENST00000372769.3	+	2	508	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	140	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCATGGGACACAAAATCCTTC	0.388													29	44					1.77063e-15	1.857e-15	1	1	0	A	43850691	C	A	43850691	3	1	45	1	0	0	0	0	1	0	0	0	14099	479	17	5	424	5	SEMG2	20	43850691	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	22163474	43850691	19174829	35	824											
KRTAP12-3	386683	broad.mit.edu	37	21	46077965	46077965	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr21:46077965C>T	ENST00000397907.1	+	1	117	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	23	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGCATCCTGCTATGTGC	0.672													34	42					0	0	1	0	0	T	46077965	C	T	46077965	2	4	45	1	0	0	0	0	0	0	0	1	8563	668	24	3		3	KRTAP12-3	21	46077965	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		46077965	2051930	36	825											
MYO18B	84700	broad.mit.edu	37	22	26165009	26165009	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr22:26165009G>A	ENST00000335473.7	+	4	1376	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	MYO18B_ENST00000407587.2_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	376						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAGAAAGCAGGTGAGCTTCG	0.572													4	1					0	0	1	0	0	A	26165009	G	A	26165009	3	1	45	1	0	0	0	0	1	0	0	0	10114	1000	35	3	1136	3	MYO18B	22	26165009	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		26165009	25139557	37	826											
VSIG4	11326	broad.mit.edu	37	X	65242294	65242294	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chrX:65242294G>A	ENST00000374737.4	-	8	1119	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.A243A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	337					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGCGAAGATGGCCACCCTCA	0.562													10	18					0	0	1	0	0	A	65242294	G	A	65242294	2	1	45	1	0	0	0	0	0	0	0	1	17285	1335	47	3		3	VSIG4	23	65242294	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		65242294	90028266	38	827											
CCT4	10575	broad.mit.edu	37	2	62099293	62099293	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:62099293T>C	ENST00000394440.3	-	12	1711	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	472					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AGAAATGGGATTCAGGCCGGC	0.433													44	91					0	0	1	0	0	C	62099293	T	C	62099293	3	2	46	1	0	0	0	0	1	0	0	0	2977	1493	52	4	216	4	CCT4	2	62099293	Missense_Mutation	SNP	T	TCGA-QR-A70Q-01A-13D-A35D-08		62099293	181100080	1	828											
WDR33	55339	broad.mit.edu	37	2	128522429	128522429	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:128522429G>A	ENST00000322313.4	-	6	757	c.599C>T	c.(598-600)gCa>gTa	p.A200V	WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	200					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCTTATGTGCCTGGAACAT	0.413													17	137					0	0	1	0	0	A	128522429	G	A	128522429	3	1	46	1	0	0	0	0	1	0	0	0	17347	1319	46	3	3888	3	WDR33	2	128522429	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08	66423136	128522429	114676944	2	829											
TADA3	10474	broad.mit.edu	37	3	9831245	9831245	+	Missense_Mutation	SNP	C	C	T	rs149462962		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:9831245C>T	ENST00000343450.2	-	4	1059	c.512G>A	c.(511-513)cGc>cAc	p.R171H	TADA3_ENST00000440161.1_Missense_Mutation_p.R171H|TADA3_ENST00000301964.2_Missense_Mutation_p.R171H	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	171					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAAGTGTGCGGACCTCCTC	0.562													3	39					0	0	1	0	0	T	9831245	C	T	9831245	3	4	46	1	0	0	0	0	1	0	0	0	15569	768	27	1	814	1	TADA3	3	9831245	Missense_Mutation	SNP	C	TCGA-QR-A70Q-01A-13D-A35D-08		9831245	188191185	3	830											
DPPA4	55211	broad.mit.edu	37	3	109050579	109050579	+	Splice_Site	SNP	A	A	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:109050579A>G	ENST00000335658.6	-	4	445		c.e4+1		DPPA4_ENST00000478791.1_Splice_Site	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4							nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAAAAAGTTACCTTTTGATT	0.398													4	65					0	0	1	0	0	G	109050579	A	G	109050579	5	3	46	1	0	0	0	0	0	0	1	0	4762	405	14	4	538	4	DPPA4	3	109050579	Splice_Site	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08	99219334	109050579	88971851	4	831											
ALB	213	broad.mit.edu	37	4	74280766	74280766	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr4:74280766A>G	ENST00000295897.4	+	9	1162	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000503124.1_Missense_Mutation_p.Y208C|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	358	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTGTATGAATATGCAAGAAGG	0.373													5	143					0	0	1	0	0	G	74280766	A	G	74280766	3	3	46	1	0	0	0	0	1	0	0	0	483	449	16	4	1107	4	ALB	4	74280766	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		74280766	116873510	5	832											
DEFB112	245915	broad.mit.edu	37	6	50011343	50011343	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr6:50011343A>T	ENST00000322246.4	-	2	286	c.287T>A	c.(286-288)aTc>aAc	p.I96N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	96					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTCCTTTGGGATCCAATTATT	0.413													12	70					0	0	1	0	0	T	50011343	A	T	50011343	3	4	46	1	0	0	0	0	1	0	0	0	4428	333	12	5	57	5	DEFB112	6	50011343	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		50011343	121103724	6	833											
COG5	0	broad.mit.edu	37	7	107167714	107167714	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:107167714A>G	ENST00000393603.2	-	6	870	c.599T>C	c.(598-600)aTa>aCa	p.I200T	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.I200T|COG5_ENST00000347053.3_Missense_Mutation_p.I200T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	200					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCTTTTGTTATCTCTCTACT	0.348													5	56					0	0	1	0	0	G	107167714	A	G	107167714	3	3	46	1	0	0	0	0	1	0	0	0	3684	449	16	4	2055	4	COG5	7	107167714	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		107167714	51970949	7	834											
TMC1	117531	broad.mit.edu	37	9	75420375	75420375	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:75420375T>G	ENST00000297784.5	+	18	2184	c.1644T>G	c.(1642-1644)tgT>tgG	p.C548W	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.C548W|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	548					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAGGGCATGTTTTGTGAGGT	0.353													9	201					0	0	1	0	0	G	75420375	T	G	75420375	3	3	46	1	0	0	0	0	1	0	0	0	16044	1731	60	5	1698	5	TMC1	9	75420375	Missense_Mutation	SNP	T	TCGA-QR-A70Q-01A-13D-A35D-08		75420375	65793056	8	835											
NUP188	23511	broad.mit.edu	37	9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:131760467G>A	ENST00000372577.2	+	31	3410	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438													5	363					0	0	1	0	0	A	131760467	G	A	131760467	3	1	46	1	0	0	0	0	1	0	0	0	10806	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08	56340092	131760467	9452964	9	836											
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403													4	294					0	0	1	0	0	C	12155673	A	C	12155673	3	2	46	1	0	0	0	0	1	0	0	0	18239	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		12155673	46973310	10	837											
PPP1R13L	10848	broad.mit.edu	37	19	45900240	45900240	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:45900240C>G	ENST00000418234.2	-	4	353	c.275G>C	c.(274-276)gGc>gCc	p.G92A	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	92	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTGTCTGCGCCGTCGGTGGC	0.721													5	13					0	0	1	0	0	G	45900240	C	G	45900240	3	3	46	1	0	0	0	0	1	0	0	0	12407	739	26	5	2251	5	PPP1R13L	19	45900240	Missense_Mutation	SNP	C	TCGA-QR-A70Q-01A-13D-A35D-08	33744567	45900240	13228743	11	838											
AHCY	191	broad.mit.edu	37	20	32878371	32878371	+	Silent	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr20:32878371G>A	ENST00000538132.1	-	7	1142	c.756C>T	c.(754-756)gaC>gaT	p.D252D	AHCY_ENST00000217426.2_Silent_p.D280D	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	280					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGATGATGTCAATACAGC	0.587													5	189					0	0	1	0	0	A	32878371	G	A	32878371	2	1	46	1	0	0	0	0	0	0	0	1	406	1368	48	3		3	AHCY	20	32878371	Silent	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08		32878371	30147149	12	839											
ARSA	410	broad.mit.edu	37	22	51065311	51065311	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr22:51065311G>A	ENST00000547307.1	-	3	1034	c.629C>T	c.(628-630)gCc>gTc	p.A210V	ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V			P15289	ARSA_HUMAN	arylsulfatase A	210						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CTGGGCGTCGGCCATGAGGTC	0.657													4	157					0	0	1	0	0	A	51065311	G	A	51065311	3	1	46	1	0	0	0	0	1	0	0	0	986	1203	42	3	918	3	ARSA	22	51065311	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08		51065311	239255	13	840											
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													4	5	---	---	---	---						-	50350713	TCC	-	50350711	7	5	46	1	0	1	0	1	0	0	0	0	14351	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-QR-A70Q-01A-13D-A35D-08		50350711	104919849	14	841											
LDLRAD2	401944	broad.mit.edu	37	1	22142457	22142457	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr1:22142457G>A	ENST00000344642.2	+	3	720	c.533G>A	c.(532-534)cGc>cAc	p.R178H	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178H	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	178	LDL-receptor class A.					integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCCTACTTCCGCTGCCAGAAT	0.622													4	44					0	0	1	0	0	A	22142457	G	A	22142457	3	1	47	1	0	0	0	0	1	0	0	0	8745	1087	38	1	543	1	LDLRAD2	1	22142457	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		22142457	227108164	1	842											
WDR63	126820	broad.mit.edu	37	1	85547042	85547042	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr1:85547042G>A	ENST00000294664.6	+	4	409	c.229G>A	c.(229-231)Gac>Aac	p.D77N	WDR63_ENST00000326813.8_Missense_Mutation_p.D77N|WDR63_ENST00000370596.1_Missense_Mutation_p.D77N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	77										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CATTTTTGAGGACCTGCGCAA	0.378													21	34					0	0	1	0	0	A	85547042	G	A	85547042	3	1	47	1	0	0	0	0	1	0	0	0	17374	1174	41	3	239	3	WDR63	1	85547042	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	63404585	85547042	163703579	2	843											
NBEAL2	23218	broad.mit.edu	37	3	47041446	47041446	+	Translation_Start_Site	SNP	A	A	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr3:47041446A>T	ENST00000383740.2	+	0	4036				NBEAL2_ENST00000450053.3_Missense_Mutation_p.D1286V|NBEAL2_ENST00000292309.5_Intron			Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2								binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGCTGGCAAGATGTGCTGACC	0.632													10	30					0	0	1	0	0	T	47041446	A	T	47041446	1	4	47	1	0	0	0	0	0	0	0	0	10237	333	12	5		5	NBEAL2	3	47041446	Translation_Start_Site	SNP	A	TCGA-QR-A70R-01A-11D-A35D-08		47041446	150980984	3	844											
ODAM	54959	broad.mit.edu	37	4	71062416	71062416	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr4:71062416C>G	ENST00000396094.2	+	2	107	c.59C>G	c.(58-60)cCa>cGa	p.P20R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	20					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TAGCTTATCCCACAGCGTCTC	0.333													9	85					0	0	1	0	0	G	71062416	C	G	71062416	3	3	47	1	0	0	0	0	1	0	0	0	10872	594	21	5	65	5	ODAM	4	71062416	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		71062416	120091860	4	845											
SUN1	23353	broad.mit.edu	37	7	882981	882981	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:882981G>T	ENST00000456758.2	+	8	656	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SUN1_ENST00000401592.1_Missense_Mutation_p.G161V|SUN1_ENST00000457378.2_Missense_Mutation_p.G182V|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Missense_Mutation_p.G111V|SUN1_ENST00000405266.1_Missense_Mutation_p.G161V|SUN1_ENST00000425407.2_Missense_Mutation_p.G111V|SUN1_ENST00000403868.1_Missense_Mutation_p.G161V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	161	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTAGGTGGAAATAAAGCT	0.468													11	133					3.07112e-06	3.32704e-06	1	1	0	T	882981	G	T	882981	3	4	47	1	0	0	0	0	1	0	0	0	15447	1174	41	5	567	5	SUN1	7	882981	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		882981	158255682	5	846											
ING3	54556	broad.mit.edu	37	7	120607662	120607662	+	Silent	SNP	A	A	G			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:120607662A>G	ENST00000315870.5	+	7	664	c.516A>G	c.(514-516)ctA>ctG	p.L172L	ING3_ENST00000431467.1_Silent_p.L157L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	172					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AAGCTCTTCTATCCACCCTTA	0.303													51	146					0	0	1	0	0	G	120607662	A	G	120607662	2	3	47	1	0	0	0	0	0	0	0	1	7781	436	16	4		4	ING3	7	120607662	Silent	SNP	A	TCGA-QR-A70R-01A-11D-A35D-08	119724681	120607662	38531001	6	847											
MGAM	8972	broad.mit.edu	37	7	141708443	141708443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:141708443G>T	ENST00000475668.2	+	3	319	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.E89*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	89	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCTGCTGAATGTCCAGT	0.448													7	54					2.52707e-12	2.98654e-12	1	1	0	T	141708443	G	T	141708443	4	4	47	1	0	0	0	0	0	1	0	0	9591	1291	45	5	271	5	MGAM	7	141708443	Nonsense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	21100781	141708443	17430220	7	848											
FOXD4	2298	broad.mit.edu	37	9	117692	117692	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr9:117692C>T	ENST00000382500.2	-	1	725	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	143					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGGAACTTGCGGCGGTAGTA	0.642													6	371					0	0	1	0	0	T	117692	C	T	117692	3	4	47	1	0	0	0	0	1	0	0	0	6032	768	27	1	895	1	FOXD4	9	117692	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		117692	141095739	8	849											
SORCS3	22986	broad.mit.edu	37	10	106982994	106982994	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr10:106982994G>A	ENST00000369701.3	+	20	3082	c.2855G>A	c.(2854-2856)gGc>gAc	p.G952D	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	952						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTGGTTCGGCAATAGCACA	0.458													5	196					0	0	1	0	0	A	106982994	G	A	106982994	3	1	47	1	0	0	0	0	1	0	0	0	14986	1203	42	3	2933	3	SORCS3	10	106982994	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		106982994	28551753	9	850											
HEPN1	641654	broad.mit.edu	37	11	124789688	124789688	+	Silent	SNP	C	C	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr11:124789688C>T	ENST00000408930.5	+	1	543	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	14						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GGGTTGATGGCGAATCAGAGC	0.512													8	45					0	0	1	0	0	T	124789688	C	T	124789688	2	4	47	1	0	0	0	0	0	0	0	1	7097	755	27	1		1	HEPN1	11	124789688	Silent	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		124789688	10216828	10	851											
SREBF1	6720	broad.mit.edu	37	17	17720609	17720609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr17:17720609delG	ENST00000355815.4	-	9	1826	c.1657delC	c.(1657-1659)atfs	p.H553fs	SREBF1_ENST00000395757.1_Frame_Shift_Del_p.H269fs|SREBF1_ENST00000338854.5_Frame_Shift_Del_p.H523fs|SREBF1_ENST00000261646.5_Frame_Shift_Del_p.H523fs	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	523					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCAGGGCTATGGTAGACGCTG	0.677													3	3	---	---	---	---						-	17720609	G	-	17720609	7	5	47	1	0	1	0	1	0	0	0	0	15197	1348	47	0	1924	0	SREBF1	17	17720609	Frame_Shift_Del	DEL	G	TCGA-QR-A70R-01A-11D-A35D-08		17720609	63474601	11	852											
PRKD2	25865	broad.mit.edu	37	19	47197153	47197153	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr19:47197153C>A	ENST00000433867.1	-	11	2032	c.1555G>T	c.(1555-1557)Gcc>Tcc	p.A519S	PRKD2_ENST00000291281.4_Missense_Mutation_p.A519S|PRKD2_ENST00000595515.1_Missense_Mutation_p.A519S|PRKD2_ENST00000600194.1_Missense_Mutation_p.A362S|PRKD2_ENST00000601806.1_Missense_Mutation_p.A362S	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	519					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCCTGGGGCGCTGGGTGCG	0.672													13	44					7.93312e-07	8.96788e-07	1	1	0	A	47197153	C	A	47197153	3	1	47	1	0	0	0	0	1	0	0	0	12571	768	27	5	1117	5	PRKD2	19	47197153	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		47197153	11931830	12	853											
ZNF773	374928	broad.mit.edu	37	19	58016080	58016080	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr19:58016080G>T	ENST00000599847.1	+	2	231	c.89G>T	c.(88-90)aGa>aTa	p.R30I	ZNF773_ENST00000598770.1_Missense_Mutation_p.R29I|ZNF773_ENST00000282292.4_Missense_Mutation_p.R30I|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.R29I			Q6PK81	ZN773_HUMAN	zinc finger protein 773	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGGAATGGAGATTGCTTGAT	0.532													5	125					0.184627	0.184627	1	1	0	T	58016080	G	T	58016080	3	4	47	1	0	0	0	0	1	0	0	0	18195	942	33	5	95	5	ZNF773	19	58016080	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	10818927	58016080	1112903	13	854											
NRSN2	80023	broad.mit.edu	37	20	333947	333947	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr20:333947G>A	ENST00000382291.3	+	4	523	c.283G>A	c.(283-285)Gag>Aag	p.E95K	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.E95K	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	95						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GGGCATCGGTGAGGGTGAGTT	0.652													4	78					0	0	1	0	0	A	333947	G	A	333947	3	1	47	1	0	0	0	0	1	0	0	0	10711	1291	45	3	289	3	NRSN2	20	333947	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		333947	62691573	14	855											
CRELD2	79174	broad.mit.edu	37	22	50316920	50316920	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr22:50316920G>A	ENST00000404488.3	+	8	1009	c.874G>A	c.(874-876)Gct>Act	p.A292T	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.A243T|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Missense_Mutation_p.A243T	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	243	EGF-like 2; calcium-binding (Potential).					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTGCAGCGCTGCGCAGTT	0.692													14	26					0	0	1	0	0	A	50316920	G	A	50316920	3	1	47	1	0	0	0	0	1	0	0	0	3890	1087	38	1	904	1	CRELD2	22	50316920	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		50316920	987646	15	856											
HTR6	3362	broad.mit.edu	37	1	20005098	20005098	+	Silent	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:20005098C>T	ENST00000289753.1	+	2	1220	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	251					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGTCTGCTGACAGCAGGCGTC	0.627													17	51					0	0	1	0	0	T	20005098	C	T	20005098	2	4	48	1	0	0	0	0	0	0	0	1	7495	477	17	3		3	HTR6	1	20005098	Silent	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		20005098	229245523	1	857											
HIPK1	204851	broad.mit.edu	37	1	114514513	114514513	+	Silent	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:114514513C>T	ENST00000369558.1	+	15	3313	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	HIPK1_ENST00000340480.4_Silent_p.T653T|HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000406344.1_Silent_p.T633T			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1027	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGTATCACCCCCACAGGGT	0.517													41	42					0	0	1	0	0	T	114514513	C	T	114514513	2	4	48	1	0	0	0	0	0	0	0	1	7157	610	22	3		3	HIPK1	1	114514513	Silent	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	94509415	114514513	134736108	2	858											
CEBPZ	10153	broad.mit.edu	37	2	37455268	37455268	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:37455268A>G	ENST00000234170.5	-	2	1213	c.1068T>C	c.(1066-1068)gaT>gaC	p.D356D		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	356					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTACTAATGTATCATGACTTA	0.403													34	90					0	0	1	0	0	G	37455268	A	G	37455268	2	3	48	1	0	0	0	0	0	0	0	1	3226	446	16	4		4	CEBPZ	2	37455268	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		37455268	205744105	3	859											
POLR1A	25885	broad.mit.edu	37	2	86308796	86308796	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:86308796T>A	ENST00000263857.6	-	8	1229	c.851A>T	c.(850-852)gAt>gTt	p.D284V	POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	284					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACCATCATCATCCATTCCCGA	0.403													14	61					0	0	1	0	0	A	86308796	T	A	86308796	3	1	48	1	0	0	0	0	1	0	0	0	12257	1435	50	5	4419	5	POLR1A	2	86308796	Missense_Mutation	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08	48853528	86308796	156890577	4	860											
MST1	4485	broad.mit.edu	37	3	49722300	49722300	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr3:49722300C>A	ENST00000449682.2	-	15	2001	c.1640G>T	c.(1639-1641)gGc>gTc	p.G547V	AC099668.5_ENST00000563780.1_RNA	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	533	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACCTCATAGCCCGTGAGAGG	0.582													4	49					0.0293803	0.0304296	1	1	0	A	49722300	C	A	49722300	3	1	48	1	0	0	0	0	1	0	0	0	9938	739	26	5	553	5	MST1	3	49722300	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		49722300	148300130	5	861											
ALPK1	80216	broad.mit.edu	37	4	113303581	113303581	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr4:113303581T>A	ENST00000458497.1	+	4	428	c.149T>A	c.(148-150)cTg>cAg	p.L50Q	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	50							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAGGACCCTGATCCAGGAG	0.478													3	58					0	0	1	0	0	A	113303581	T	A	113303581	3	1	48	1	0	0	0	0	1	0	0	0	540	1580	55	5	155	5	ALPK1	4	113303581	Missense_Mutation	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08		113303581	77850695	6	862											
TRRAP	8295	broad.mit.edu	37	7	98533274	98533274	+	Missense_Mutation	SNP	G	G	A	rs140553884	by1000genomes	TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr7:98533274G>A	ENST00000359863.4	+	28	4296	c.4087G>A	c.(4087-4089)Gta>Ata	p.V1363I	TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1363					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGTCACTCGTACCTTTACG	0.378													4	95					0	0	1	0	0	A	98533274	G	A	98533274	3	1	48	1	0	0	0	0	1	0	0	0	16662	1145	40	1	4193	1	TRRAP	7	98533274	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		98533274	60605389	7	863											
CSPP1	79848	broad.mit.edu	37	8	68084697	68084697	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr8:68084697C>T	ENST00000262210.5	+	23	2891	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	989						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGCTAGACATCGGTTGCAAGC	0.388													4	62					0	0	1	0	0	T	68084697	C	T	68084697	3	4	48	1	0	0	0	0	1	0	0	0	3987	875	31	2	3063	2	CSPP1	8	68084697	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		68084697	78279325	8	864											
TLE1	7088	broad.mit.edu	37	9	84205889	84205889	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:84205889A>G	ENST00000376499.3	-	16	2724	c.1660T>C	c.(1660-1662)Ttg>Ctg	p.L554L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	554					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAAATGGACAAAGTACTGGCT	0.547													17	117					0	0	1	0	0	G	84205889	A	G	84205889	2	3	48	1	0	0	0	0	0	0	0	1	15998	11	1	4		4	TLE1	9	84205889	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		84205889	57007542	9	865											
FBP2	8789	broad.mit.edu	37	9	97355969	97355969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:97355969delG	ENST00000375337.3	-	1	106	c.40delC	c.(40-42)tgfs	p.L14fs		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	14					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TAGCGGGTCAGGGTGAGCATG	0.552													39	68	---	---	---	---						-	97355969	G	-	97355969	7	5	48	1	0	1	0	1	0	0	0	0	5739	991	35	0	1007	0	FBP2	9	97355969	Frame_Shift_Del	DEL	G	TCGA-QR-A70T-01A-11D-A35D-08	13150080	97355969	43857462	10	866											
TFAM	7019	broad.mit.edu	37	10	60146034	60146034	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:60146034A>G	ENST00000487519.1	+	2	682	c.156A>G	c.(154-156)aaA>aaG	p.K52K	TFAM_ENST00000373895.3_Silent_p.K52K|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	52					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTCCAAAGAAACCTGTAAGTT	0.363													4	116					0	0	1	0	0	G	60146034	A	G	60146034	2	3	48	1	0	0	0	0	0	0	0	1	15846	40	2	4		4	TFAM	10	60146034	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		60146034	75388713	11	867											
SLC29A3	55315	broad.mit.edu	37	10	73111447	73111447	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:73111447G>A	ENST00000373189.5	+	4	564	c.512G>A	c.(511-513)tGc>tAc	p.C171Y	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	171					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						ACCATTGTCTGCATGGTGATC	0.547													4	81					0	0	1	0	0	A	73111447	G	A	73111447	3	1	48	1	0	0	0	0	1	0	0	0	14591	1319	46	3	526	3	SLC29A3	10	73111447	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08	12965413	73111447	62423300	12	868											
GANAB	23193	broad.mit.edu	37	11	62400986	62400986	+	Splice_Site	SNP	C	C	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:62400986C>G	ENST00000346178.4	-	7	642	c.626_splice	c.e7-1	p.R209_splice	GANAB_ENST00000540933.1_Splice_Site_p.S90_splice|GANAB_ENST00000356638.3_Splice_Site_p.S187_splice|GANAB_ENST00000534779.1_Splice_Site_p.R95_splice|GANAB_ENST00000534422.1_5'UTR	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TTGATCCTTGCCTGGAAGGTA	0.607													18	35					0	0	1	0	0	G	62400986	C	G	62400986	5	3	48	1	0	0	0	0	0	0	1	0	6273	753	26	5	2349	5	GANAB	11	62400986	Splice_Site	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		62400986	72605530	13	869											
RIN1	9610	broad.mit.edu	37	11	66102456	66102456	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:66102456C>T	ENST00000311320.4	-	6	940	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	272					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGACTGCCCCTGGCAGCACG	0.667													5	37					0	0	1	0	0	T	66102456	C	T	66102456	3	4	48	1	0	0	0	0	1	0	0	0	13423	681	24	3	1557	3	RIN1	11	66102456	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	3701470	66102456	68904060	14	870											
FOLH1B	219595	broad.mit.edu	37	11	89392730	89392730	+	RNA	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:89392730G>A	ENST00000532352.1	+	0	553							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTGGCAGGGGCCAAAGGAGT	0.438													3	29					0	0	1	0	0	A	89392730	G	A	89392730	1	1	48	0	1	0	0	0	0	0	0	0	6013	1218	42	3		3	FOLH1B	11	89392730	RNA	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08	23290274	89392730	45613786	15	871											
ANKK1	255239	broad.mit.edu	37	11	113266945	113266945	+	Splice_Site	SNP	G	G	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:113266945G>T	ENST00000303941.3	+	5	932		c.e5+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGCTTTCTAGGTGCTTATCCA	0.612													4	105					0.150653	0.150653	1	1	0	T	113266945	G	T	113266945	5	4	48	1	0	0	0	0	0	0	1	0	627	1275	44	5	857	5	ANKK1	11	113266945	Splice_Site	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08	23874215	113266945	21739571	16	872											
C1S	716	broad.mit.edu	37	12	7172601	7172601	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:7172601G>A	ENST00000406697.1	+	9	1343	c.715G>A	c.(715-717)Gtt>Att	p.V239I	C1S_ENST00000402681.3_Missense_Mutation_p.V72I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I|C1S_ENST00000328916.3_Missense_Mutation_p.V239I			P09871	C1S_HUMAN	complement component 1, s subcomponent	239	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.V239F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGACAGTTTAGTTGTGCGTGA	0.453													10	19					0	0	1	0	0	A	7172601	G	A	7172601	3	1	48	1	0	0	0	0	1	0	0	0	1987	1029	36	3	733	3	C1S	12	7172601	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		7172601	126679294	17	873											
LRP6	4040	broad.mit.edu	37	12	12301949	12301949	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:12301949C>G	ENST00000261349.4	-	14	3209	c.3133G>C	c.(3133-3135)Ggg>Cgg	p.G1045R	LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1045	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACTGATCTCCCATCTAATCTT	0.463													74	97					0	0	1	0	0	G	12301949	C	G	12301949	3	3	48	1	0	0	0	0	1	0	0	0	9007	594	21	5	1748	5	LRP6	12	12301949	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	5129348	12301949	121549946	18	874											
FMN1	342184	broad.mit.edu	37	15	33358928	33358928	+	Silent	SNP	T	T	C			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr15:33358928T>C	ENST00000334528.9	-	1	1157	c.1158A>G	c.(1156-1158)ccA>ccG	p.P386P	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Silent_p.P386P|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	483	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTGGGTTTGTGGTACTCCAG	0.592													47	57					0	0	1	0	0	C	33358928	T	C	33358928	2	2	48	1	0	0	0	0	0	0	0	1	5982	1683	59	4		4	FMN1	15	33358928	Silent	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08		33358928	69172464	19	875											
MUC16	94025	broad.mit.edu	37	19	9009599	9009599	+	Silent	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr19:9009599G>A	ENST00000397910.4	-	39	39330	c.39127C>T	c.(39127-39129)Ctg>Ttg	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACCCTGCAGGACCCTCTCT	0.552													12	149					0	0	1	0	0	A	9009599	G	A	9009599	2	1	48	1	0	0	0	0	0	0	0	1	10021	991	35	3		3	MUC16	19	9009599	Silent	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		9009599	50119384	20	876											
KRTAP10-4	386672	broad.mit.edu	37	21	45993755	45993769	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:45993755_45993769delCTGCTGCGCCCCCAG	ENST00000400374.3	+	1	150_164	c.120_134delCTGCTGCGCCCCCAG	c.(118-135)ccc>cc	p.PCCAPS40del	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	40	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													9	18	---	---	---	---						-	45993769	CTGCTGCGCCCCCAG	-	45993755	7	5	48	1	0	1	0	1	0	0	0	0	8554	668	24	0	122	0	KRTAP10-4	21	45993755	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	TCGA-QR-A70T-01A-11D-A35D-08		45993755	2136140	21	877											
DIP2A	23181	broad.mit.edu	37	21	47918530	47918530	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:47918530C>T	ENST00000318711.7	+	5	622	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W|DIP2A_ENST00000417564.2_Missense_Mutation_p.R147W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	147					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.R147R(2)|p.R83R(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGCTCTTTACGGCGACCCGG	0.587													4	153					0	0	1	0	0	T	47918530	C	T	47918530	3	4	48	1	0	0	0	0	1	0	0	0	4555	527	19	1	457	1	DIP2A	21	47918530	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	1924775	47918530	211365	22	878											
AWAT1	158833	broad.mit.edu	37	X	69457054	69457054	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chrX:69457054G>C	ENST00000374521.3	+	4	457	c.416G>C	c.(415-417)tGg>tCg	p.W139S	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	139					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACGCTGTCCTGGTTCTTCAAG	0.537													3	16					0	0	1	0	0	C	69457054	G	C	69457054	3	2	48	1	0	0	0	0	1	0	0	0	1232	1357	47	5	430	5	AWAT1	23	69457054	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		69457054	85813506	23	879											
GBA	2629	broad.mit.edu	37	1	155207977	155207977	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:155207977T>G	ENST00000428024.2	-	5	950	c.448A>C	c.(448-450)Aag>Cag	p.K150Q	GBA_ENST00000536770.1_Missense_Mutation_p.K124Q|GBA_ENST00000327247.5_Missense_Mutation_p.K237Q|GBA_ENST00000427500.2_Missense_Mutation_p.K188Q|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	237					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGCTGTCCCTTGAGTGACCCC	0.577									Gaucher disease type I				14	27					0	0	1	0	0	G	155207977	T	G	155207977	3	3	49	1	0	0	0	0	1	0	0	0	6306	1821	63	5	925	5	GBA	1	155207977	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08		155207977	94042644	1	880											
THADA	63892	broad.mit.edu	37	2	43799001	43799001	+	Splice_Site	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:43799001C>T	ENST00000403856.1	-	14	2056	c.1908_splice	c.e14-1	p.V637_splice	THADA_ENST00000330266.7_Splice_Site_p.V347_splice|THADA_ENST00000402360.2_Splice_Site_p.V637_splice|THADA_ENST00000405006.4_Splice_Site_p.V637_splice|THADA_ENST00000404790.1_Splice_Site_p.V637_splice|THADA_ENST00000405975.2_Splice_Site_p.V637_splice|THADA_ENST00000415080.2_Splice_Site_p.V347_splice			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTATCCTTACCTAAAAAACA	0.318													5	97					0	0	1	0	0	T	43799001	C	T	43799001	5	4	49	1	0	0	0	0	0	0	1	0	15900	521	18	3	4056	3	THADA	2	43799001	Splice_Site	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		43799001	199400372	2	881											
AUP1	550	broad.mit.edu	37	2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512													4	194					0	0	1	0	0	A	74754875	G	A	74754875	3	1	49	1	0	0	0	0	1	0	0	0	1218	1087	38	1	423	1	AUP1	2	74754875	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	30955874	74754875	168444498	3	882											
TATDN2	9797	broad.mit.edu	37	3	10302293	10302293	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:10302293A>C	ENST00000287652.4	+	3	1938	c.887A>C	c.(886-888)gAc>gCc	p.D296A	TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	296						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACTGTCATTGACAAATGCTCT	0.473													4	134					0	0	1	0	0	C	10302293	A	C	10302293	3	2	49	1	0	0	0	0	1	0	0	0	15649	275	10	5	893	5	TATDN2	3	10302293	Missense_Mutation	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08		10302293	187720137	4	883											
ZNF35	7584	broad.mit.edu	37	3	44692675	44692675	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:44692675A>T	ENST00000396056.2	+	2	351	c.116A>T	c.(115-117)cAc>cTc	p.H39L	ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000542250.1_5'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	39	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAACAAGTGCACTCCGAGAAC	0.542													8	106					0	0	1	0	0	T	44692675	A	T	44692675	3	4	49	1	0	0	0	0	1	0	0	0	17919	159	6	5	118	5	ZNF35	3	44692675	Missense_Mutation	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08	34390382	44692675	153329755	5	884											
ROBO2	6092	broad.mit.edu	37	3	77614243	77614243	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:77614243T>G	ENST00000461745.1	+	12	2721	c.1821T>G	c.(1819-1821)agT>agG	p.S607R	ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R|ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	607	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGACCCAAGTCCCATGTCAG	0.468													27	68					0	0	1	0	0	G	77614243	T	G	77614243	3	3	49	1	0	0	0	0	1	0	0	0	13566	1664	58	5	1869	5	ROBO2	3	77614243	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	32921568	77614243	120408187	6	885											
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													6	237					0	0	1	0	0	T	138451498	C	T	138451498	3	4	49	1	0	0	0	0	1	0	0	0	11560	536	19	1	1678	1	PCDH18	4	138451498	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		138451498	52702778	7	886											
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:164050124T>C	ENST00000274054.2	-	8	1603	c.1410A>G	c.(1408-1410)ccA>ccG	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522													11	15					0	0	1	0	0	C	164050124	T	C	164050124	2	2	49	1	0	0	0	0	0	0	0	1	10188	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	25598626	164050124	27104152	8	887											
CASP3	836	broad.mit.edu	37	4	185553476	185553476	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:185553476C>T	ENST00000308394.4	-	5	515	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I|CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	85					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTATTCCTGACTTCATATTTC	0.338													4	79					0	0	1	0	0	T	185553476	C	T	185553476	3	4	49	1	0	0	0	0	1	0	0	0	2690	565	20	3	596	3	CASP3	4	185553476	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	21503352	185553476	5600800	9	888											
OPRM1	4988	broad.mit.edu	37	6	154414493	154414493	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr6:154414493G>T	ENST00000229768.5	+	4	1303	c.1253G>T	c.(1252-1254)aGa>aTa	p.R418I	OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000518759.1_Intron	NM_001008505.1	NP_001008505.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CCTCTTGTCAGATATGACCTC	0.512													5	191					1.024e-07	1.04676e-07	1	1	0	T	154414493	G	T	154414493	3	4	49	1	0	0	0	0	1	0	0	0	10935	942	33	5	1616	5	OPRM1	6	154414493	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		154414493	16700574	10	889											
DOCK4	9732	broad.mit.edu	37	7	111484935	111484935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr7:111484935C>A	ENST00000428084.1	-	25	2892	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E874*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	874					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTATTTCCTCCAGCACA	0.428													13	135					2.31682e-05	2.31682e-05	1	1	0	A	111484935	C	A	111484935	4	1	49	1	0	0	0	0	0	1	0	0	4716	864	30	5	3392	5	DOCK4	7	111484935	Nonsense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		111484935	47653728	11	890											
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						51	62					2.44813e-32	2.55941e-32	1	1	0	T	38274849	G	T	38274849	3	4	49	1	0	0	0	0	1	0	0	0	5896	1252	44	5	858	5	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		38274849	108089173	12	891											
PDE7A	5150	broad.mit.edu	37	8	66635840	66635840	+	Silent	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:66635840T>C	ENST00000401827.3	-	12	1622	c.1179A>G	c.(1177-1179)aaA>aaG	p.K393K	PDE7A_ENST00000396642.3_Silent_p.K393K|PDE7A_ENST00000379419.4_Silent_p.K367K	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	393	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCAAATGATATTTTTTTTCTA	0.294													14	21					0	0	1	0	0	C	66635840	T	C	66635840	2	2	49	1	0	0	0	0	0	0	0	1	11698	1490	52	4		4	PDE7A	8	66635840	Silent	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	28360991	66635840	79728182	13	892											
NLRP6	171389	broad.mit.edu	37	11	281682	281682	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:281682C>T	ENST00000534750.1	+	4	2153	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NLRP6_ENST00000312165.5_Missense_Mutation_p.R650C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	650						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGCGAGTGCGCTTCTGCCG	0.637													4	108					0	0	1	0	0	T	281682	C	T	281682	3	4	49	1	0	0	0	0	1	0	0	0	10528	768	27	1	1962	1	NLRP6	11	281682	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		281682	134724834	14	893											
SCUBE2	57758	broad.mit.edu	37	11	9068919	9068919	+	Silent	SNP	A	A	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:9068919A>G	ENST00000457346.2	-	16	2060	c.1986T>C	c.(1984-1986)caT>caC	p.H662H	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000309263.3_Silent_p.H633H|SCUBE2_ENST00000450649.2_Silent_p.H507H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	633						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGTTTTCTGCATGACCCTGGC	0.542													12	39					0	0	1	0	0	G	9068919	A	G	9068919	2	3	49	1	0	0	0	0	0	0	0	1	13999	214	8	4		4	SCUBE2	11	9068919	Silent	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08	8787237	9068919	125937597	15	894											
PCID2	55795	broad.mit.edu	37	13	113854816	113854816	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr13:113854816G>C	ENST00000375457.2	-	2	641	c.45C>G	c.(43-45)atC>atG	p.I15M	PCID2_ENST00000337344.4_Missense_Mutation_p.I17M|PCID2_ENST00000375479.2_Missense_Mutation_p.I17M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000351317.3_Missense_Mutation_p.I17M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000375459.1_Missense_Mutation_p.I15M	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	17					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTCTGCTGTCGATGGCTTCGT	0.418													4	65					0	0	1	0	0	C	113854816	G	C	113854816	3	2	49	1	0	0	0	0	1	0	0	0	11626	1048	37	5	1200	5	PCID2	13	113854816	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		113854816	1315062	16	895											
CACNA1H	8912	broad.mit.edu	37	16	1261283	1261283	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:1261283T>A	ENST00000348261.5	+	22	4587	c.4339T>A	c.(4339-4341)Ttg>Atg	p.L1447M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1447					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TTTTGGCATTTTGGGTGTGCA	0.637													8	136					0	0	1	0	0	A	1261283	T	A	1261283	3	1	49	1	0	0	0	0	1	0	0	0	2563	1838	64	5	4421	5	CACNA1H	16	1261283	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08		1261283	89093470	17	896											
SDR42E1	93517	broad.mit.edu	37	16	82033014	82033014	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:82033014T>C	ENST00000328945.5	-	3	1011	c.884A>G	c.(883-885)gAg>gGg	p.E295G		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	295					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGAACCATCTCTGTTAGAAA	0.478													5	96					0	0	1	0	0	C	82033014	T	C	82033014	3	2	49	1	0	0	0	0	1	0	0	0	14027	1551	54	4	301	4	SDR42E1	16	82033014	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	80771731	82033014	8321739	18	897											
CHD3	1107	broad.mit.edu	37	17	7803968	7803968	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:7803968G>A	ENST00000380358.4	+	18	3075	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	CHD3_ENST00000330494.7_Missense_Mutation_p.R966Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	966					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACATGCTGCGGAGACTCAAG	0.512													6	70					0	0	1	0	0	A	7803968	G	A	7803968	3	1	49	1	0	0	0	0	1	0	0	0	3348	1116	39	2	3248	2	CHD3	17	7803968	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		7803968	73391242	19	898											
EPX	8288	broad.mit.edu	37	17	56281693	56281693	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:56281693G>C	ENST00000225371.5	+	12	2167	c.2057G>C	c.(2056-2058)aGg>aCg	p.R686T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	686					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ACGGTTTCAAGGGACATCTTC	0.512													4	78					0	0	1	0	0	C	56281693	G	C	56281693	3	2	49	1	0	0	0	0	1	0	0	0	5228	1000	35	5	2103	5	EPX	17	56281693	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	48477725	56281693	24913517	20	899											
MUC16	94025	broad.mit.edu	37	19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACACTGGTGCTCTTGAACAA	0.562													5	145					0	0	1	0	0	T	9006392	C	T	9006392	3	4	49	1	0	0	0	0	1	0	0	0	10021	797	28	3	4057	3	MUC16	19	9006392	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		9006392	50122591	21	900											
RDH8	50700	broad.mit.edu	37	19	10129527	10129527	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:10129527G>A	ENST00000591589.1	+	3	632	c.443G>A	c.(442-444)gGc>gAc	p.G148D	RDH8_ENST00000171214.1_Missense_Mutation_p.G128D			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	128					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCTTCCAGGCATGAAGAGG	0.602													4	79					0	0	1	0	0	A	10129527	G	A	10129527	3	1	49	1	0	0	0	0	1	0	0	0	13248	1203	42	3	393	3	RDH8	19	10129527	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	1123135	10129527	48999456	22	901											
PSG7	5676	broad.mit.edu	37	19	43429531	43429531	+	RNA	DEL	T	T	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:43429531delT	ENST00000446844.3	-	0	1726				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				aatatttcaattatcattccc	0.303													2	4	---	---	---	---						-	43429531	T	-	43429531	6	5	49	0	1	1	0	1	0	0	0	0	12709	1508	52	0		0	PSG7	19	43429531	RNA	DEL	T	TCGA-QR-A70U-01A-11D-A35D-08	33300004	43429531	15699452	23	902											
KCNJ14	3770	broad.mit.edu	37	19	48965044	48965044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:48965044delG	ENST00000391884.1	+	1	539	c.63delG	c.(61-63)gcfs	p.A21fs	KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	21						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		ACAGCCGGGCGGGCGATGAAG	0.746													2	4	---	---	---	---						-	48965044	G	-	48965044	7	5	49	1	0	1	0	1	0	0	0	0	8092	1103	39	0	65	0	KCNJ14	19	48965044	Frame_Shift_Del	DEL	G	TCGA-QR-A70U-01A-11D-A35D-08	5535513	48965044	10163939	24	903											
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													7	388	---	---	---	---						-	34799292	T	-	34799292	7	5	49	1	0	1	0	1	0	0	0	0	7594	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-QR-A70U-01A-11D-A35D-08		34799292	13330603	25	904											
SGSM1	129049	broad.mit.edu	37	22	25289433	25289433	+	Silent	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:25289433C>T	ENST00000400358.4	+	17	1863	c.1806C>T	c.(1804-1806)acC>acT	p.T602T	SGSM1_ENST00000400359.4_Silent_p.T657T	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	657						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGCACAGACCATGGCTGAGT	0.652													3	33					0	0	1	0	0	T	25289433	C	T	25289433	2	4	49	1	0	0	0	0	0	0	0	1	14276	581	21	3		3	SGSM1	22	25289433	Silent	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		25289433	26015133	26	905											
DEPDC5	9681	broad.mit.edu	37	22	32164840	32164840	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:32164840C>T	ENST00000400246.1	+	7	546	c.404C>T	c.(403-405)gCt>gTt	p.A135V	DEPDC5_ENST00000382112.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.A135V			O75140	DEPD5_HUMAN	DEP domain containing 5	135					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGGAGTTTGCTGGCATCAGG	0.488													4	134					0	0	1	0	0	T	32164840	C	T	32164840	3	4	49	1	0	0	0	0	1	0	0	0	4470	797	28	3	426	3	DEPDC5	22	32164840	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	6875407	32164840	19139726	27	906											
BRD1	23774	broad.mit.edu	37	22	50192316	50192316	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:50192316C>T	ENST00000216267.8	-	4	2161	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	BRD1_ENST00000542442.1_Missense_Mutation_p.A252T|BRD1_ENST00000342989.5_Missense_Mutation_p.A154T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	559					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCTCCATGGCGACCTGCTCC	0.672													8	12					0	0	1	0	0	T	50192316	C	T	50192316	3	4	49	1	0	0	0	0	1	0	0	0	1503	768	27	1	1537	1	BRD1	22	50192316	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	18027476	50192316	1112250	28	907											
USP9X	8239	broad.mit.edu	37	X	41012243	41012246	+	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41012243_41012246delAATC	ENST00000324545.7	+	14	2439_2442	c.1806_1809delAATC	c.(1804-1809)ttfs	p.LI602fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	602					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCATGACTTAATCAATCAACTTC	0.368													50	136	---	---	---	---						-	41012246	AATC	-	41012243	7	5	49	1	0	1	0	1	0	0	0	0	17150	359	13	0	1856	0	USP9X	23	41012243	Frame_Shift_Del	DEL	AATC	TCGA-QR-A70U-01A-11D-A35D-08		41012243	114258317	29	908											
USP9X	8239	broad.mit.edu	37	X	41045776	41045776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41045776C>T	ENST00000324545.7	+	24	4198	c.3565C>T	c.(3565-3567)Caa>Taa	p.Q1189*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1189					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGATCAACCAAGTTACCCA	0.408													8	147					0	0	1	0	0	T	41045776	C	T	41045776	4	4	49	1	0	0	0	0	0	1	0	0	17150	595	21	3	3655	3	USP9X	23	41045776	Nonsense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	33533	41045776	114224784	30	909											
USP9X	8239	broad.mit.edu	37	X	41069761	41069761	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41069761G>A	ENST00000324545.7	+	33	5648		c.e33-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCATTTCTTAGGCTTTGGGGT	0.328													5	112					0	0	1	0	0	A	41069761	G	A	41069761	5	1	49	1	0	0	0	0	0	0	1	0	17150	1014	35	3	5141	3	USP9X	23	41069761	Splice_Site	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	23985	41069761	114200799	31	910											
HSPG2	3339	broad.mit.edu	37	1	22207315	22207315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr1:22207315delC	ENST00000374695.3	-	15	1911	c.1832delG	c.(1831-1833)gcfs	p.G612fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	612	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGGAGCCGCCATAGGAGTC	0.637													2	4	---	---	---	---						-	22207315	C	-	22207315	7	5	50	1	0	1	0	1	0	0	0	0	7474	739	26	0	11675	0	HSPG2	1	22207315	Frame_Shift_Del	DEL	C	TCGA-QR-A70V-01A-11D-A35D-08		22207315	227043306	1	911											
VPS54	51542	broad.mit.edu	37	2	64199342	64199342	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr2:64199342G>C	ENST00000354504.3	-	2	653	c.64C>G	c.(64-66)Cct>Gct	p.P22A	VPS54_ENST00000272322.4_Missense_Mutation_p.P139A|VPS54_ENST00000409558.3_Missense_Mutation_p.P127A			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	139					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCTTTAGGAGGACAAATATTC	0.289													14	58					0	0	1	0	0	C	64199342	G	C	64199342	3	2	50	1	0	0	0	0	1	0	0	0	17276	1174	41	5	2598	5	VPS54	2	64199342	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		64199342	179000031	2	912											
BCHE	590	broad.mit.edu	37	3	165547533	165547533	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr3:165547533G>A	ENST00000264381.3	-	2	1455	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	430					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GAACTCCAAGGCAGGGCATAT	0.438													6	26					0	0	1	0	0	A	165547533	G	A	165547533	3	1	50	1	0	0	0	0	1	0	0	0	1356	1203	42	3	531	3	BCHE	3	165547533	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		165547533	32474897	3	913											
PCDHB4	0	broad.mit.edu	37	5	140502263	140502263	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140502263G>A	ENST00000194152.1	+	1	683	c.683G>A	c.(682-684)cGa>cAa	p.R228Q		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537													34	36					0	0	1	0	0	A	140502263	G	A	140502263	3	1	50	1	0	0	0	0	1	0	0	0	11591	1058	37	2	685	2	PCDHB4	5	140502263	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		140502263	40412997	4	914											
PCDHB6	0	broad.mit.edu	37	5	140530109	140530109	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140530109C>T	ENST00000231136.1	+	1	271	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		91	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTGGACCGGGAGGAGCT	0.507													13	57					0	0	1	0	0	T	140530109	C	T	140530109	3	4	50	1	0	0	0	0	1	0	0	0	11593	643	23	2	273	2	PCDHB6	5	140530109	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	27846	140530109	40385151	5	915											
PCMTD1	115294	broad.mit.edu	37	8	52732912	52732912	+	Nonstop_Mutation	SNP	T	T	G			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:52732912T>G	ENST00000360540.5	-	7	1479	c.1073A>C	c.(1072-1074)tAa>tCa	p.*358S	PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	0						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGATCTAAGTTATTTGTCTCT	0.338													4	55					0	0	1	0	0	G	52732912	T	G	52732912	4	3	50	1	0	0	0	0	0	0	0	0	11633	1761	61	5	4	5	PCMTD1	8	52732912	Nonstop_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		52732912	93631110	6	916											
C8orf37	157657	broad.mit.edu	37	8	96264494	96264494	+	Missense_Mutation	SNP	C	C	T	rs139137766	byFrequency	TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:96264494C>T	ENST00000286688.5	-	5	403	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	131										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GGCTATACAACGCAGATGGTC	0.328													5	79					0	0	1	0	0	T	96264494	C	T	96264494	3	4	50	1	0	0	0	0	1	0	0	0	2440	536	19	1	239	1	C8orf37	8	96264494	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	43531582	96264494	50099528	7	917											
CYP11B1	0	broad.mit.edu	37	8	143961139	143961139	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:143961139C>A	ENST00000292427.4	-	1	123	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	31					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTCCTGGGGACCCGGGCGGCT	0.642									Familial Hyperaldosteronism type I				29	20					1.75199e-13	1.83162e-13	1	1	0	A	143961139	C	A	143961139	3	1	50	1	0	0	0	0	1	0	0	0	4168	507	18	5	1456	5	CYP11B1	8	143961139	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	47696645	143961139	2402883	8	918											
DKK3	27122	broad.mit.edu	37	11	12020296	12020296	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr11:12020296A>T	ENST00000396505.2	-	4	620	c.382T>A	c.(382-384)Ttt>Att	p.F128I	DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	128					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTCTCTGAAAAGACCATTTGT	0.418													30	37					0	0	1	0	0	T	12020296	A	T	12020296	3	4	50	1	0	0	0	0	1	0	0	0	4574	72	3	5	690	5	DKK3	11	12020296	Missense_Mutation	SNP	A	TCGA-QR-A70V-01A-11D-A35D-08		12020296	122986220	9	919											
FGD6	55785	broad.mit.edu	37	12	95528532	95528532	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:95528532T>C	ENST00000343958.4	-	8	3288	c.3065A>G	c.(3064-3066)tAc>tGc	p.Y1022C	FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1022	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAACAGCCTGTACTGGGGGAT	0.517													12	15					0	0	1	0	0	C	95528532	T	C	95528532	3	2	50	1	0	0	0	0	1	0	0	0	5870	1638	57	4	1283	4	FGD6	12	95528532	Missense_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		95528532	38323363	10	920											
FBXO21	23014	broad.mit.edu	37	12	117595766	117595766	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:117595766C>G	ENST00000427718.2	-	10	1503	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	FBXO21_ENST00000330622.5_Missense_Mutation_p.E484Q	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	484					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCCACCTCCTCCTTTTTGCGC	0.582													96	95					0	0	1	0	0	G	117595766	C	G	117595766	3	3	50	1	0	0	0	0	1	0	0	0	5766	864	30	5	448	5	FBXO21	12	117595766	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	22067234	117595766	16256129	11	921											
RNF17	56163	broad.mit.edu	37	13	25399864	25399864	+	Silent	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr13:25399864T>C	ENST00000255324.5	+	16	2251	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RNF17_ENST00000381921.1_Silent_p.C733C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	733	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCAAGCCTGTGTAGCTAAAT	0.363													14	73					0	0	1	0	0	C	25399864	T	C	25399864	2	2	50	1	0	0	0	0	0	0	0	1	13513	1702	59	4		4	RNF17	13	25399864	Silent	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		25399864	89770014	12	922											
MRPL46	26589	broad.mit.edu	37	15	89010473	89010473	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr15:89010473G>A	ENST00000312475.4	-	1	177	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	46						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCCAACAAGCGCCATGGGGAT	0.652													13	13					0	0	1	0	0	A	89010473	G	A	89010473	3	1	50	1	0	0	0	0	1	0	0	0	9859	1087	38	1	719	1	MRPL46	15	89010473	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		89010473	13520919	13	923											
NF1	4763	broad.mit.edu	37	17	29653263	29653263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:29653263delC	ENST00000358273.4	+	37	5644	c.5261delC	c.(5260-5262)ttfs	p.S1754fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1754					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAAAGTTTCTATTAAAGTA	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	2	---	---	---	---						-	29653263	C	-	29653263	7	5	50	1	0	1	0	1	0	0	0	0	10403	913	32	0	5468	0	NF1	17	29653263	Frame_Shift_Del	DEL	C	TCGA-QR-A70V-01A-11D-A35D-08		29653263	51541947	14	924											
CCT6B	10693	broad.mit.edu	37	17	33269552	33269552	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:33269552T>C	ENST00000314144.5	-	7	951	c.836A>G	c.(835-837)gAc>gGc	p.D279G	CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G|CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	279					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACAGACTTTGTCCTTCAGGTC	0.294													17	2					0	0	1	0	0	C	33269552	T	C	33269552	3	2	50	1	0	0	0	0	1	0	0	0	2980	1667	58	4	788	4	CCT6B	17	33269552	Missense_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08	3616289	33269552	47925658	15	925											
DNAI2	64446	broad.mit.edu	37	17	72285858	72285858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:72285858C>A	ENST00000579490.1	+	4	899	c.764C>A	c.(763-765)tCa>tAa	p.S255*	DNAI2_ENST00000311014.6_Nonsense_Mutation_p.S198*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	198					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCAGCGATTCATACATCTGG	0.637									Kartagener syndrome				3	45					1	1	1	1	0	A	72285858	C	A	72285858	4	1	50	1	0	0	0	0	0	1	0	0	4637	838	29	5	607	5	DNAI2	17	72285858	Nonsense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	39016306	72285858	8909352	16	926											
PSG7	5676	broad.mit.edu	37	19	43441282	43441282	+	RNA	SNP	T	T	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr19:43441282T>A	ENST00000406070.2	-	0	43				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGATCCAGAATCTTCCTGAGC	0.597													3	43					0	0	1	0	0	A	43441282	T	A	43441282	1	1	50	0	1	0	0	0	0	0	0	0	12709	1450	50	5		5	PSG7	19	43441282	RNA	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		43441282	15687701	17	927											
IQSEC2	23096	broad.mit.edu	37	X	53279664	53279664	+	Silent	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chrX:53279664G>A	ENST00000396435.3	-	5	2294	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	IQSEC2_ENST00000375365.2_Silent_p.S493S|IQSEC2_ENST00000375368.5_Silent_p.S688S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	688					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGCTCTCAAGGCTCTCGTTAT	0.617													4	40					0	0	1	0	0	A	53279664	G	A	53279664	2	1	50	1	0	0	0	0	0	0	0	1	7862	1194	42	3		3	IQSEC2	23	53279664	Silent	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		53279664	101990896	18	928											
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A	rs143361250	byFrequency	TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr1:148594434G>A	ENST00000442702.2	+	21	2874	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458													7	258					0	0	1	0	0	A	148594434	G	A	148594434	3	1	51	1	0	0	0	0	1	0	0	0	10243	1029	36	3	1865	3	NBPF15	1	148594434	Missense_Mutation	SNP	G	TCGA-QR-A70W-01A-12D-A35D-08		148594434	100656187	1	929	9	2									
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G	rs146739148	byFrequency	TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr1:148594439A>G	ENST00000442702.2	+	21	2879	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000369187.3_Silent_p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463													7	262					0	0	1	0	0	G	148594439	A	G	148594439	2	3	51	1	0	0	0	0	0	0	0	1	10243	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-QR-A70W-01A-12D-A35D-08	5	148594439	100656182	2	930	9	2									
SAG	6295	broad.mit.edu	37	2	234243689	234243689	+	Silent	SNP	C	C	T			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr2:234243689C>T	ENST00000409110.1	+	11	1118	c.888C>T	c.(886-888)ggC>ggT	p.G296G	SAG_ENST00000449594.2_Silent_p.G162G	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	296					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAAGGAGAGGCATTGCCCTGG	0.542													22	30					0	0	1	0	0	T	234243689	C	T	234243689	2	4	51	1	0	0	0	0	0	0	0	1	13860	697	25	3		3	SAG	2	234243689	Silent	SNP	C	TCGA-QR-A70W-01A-12D-A35D-08		234243689	8955684	3	931											
THAP4	51078	broad.mit.edu	37	2	242545840	242545840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr2:242545840delC	ENST00000407315.1	-	3	1720	c.1289delG	c.(1288-1290)gcfs	p.G430fs	THAP4_ENST00000402136.1_Frame_Shift_Del_p.G18fs|THAP4_ENST00000402545.1_Frame_Shift_Del_p.G18fs	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	430							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CAGCCAGGTGCCCAGCATCCA	0.617													2	4	---	---	---	---						-	242545840	C	-	242545840	7	5	51	1	0	1	0	1	0	0	0	0	15906	739	26	0	460	0	THAP4	2	242545840	Frame_Shift_Del	DEL	C	TCGA-QR-A70W-01A-12D-A35D-08	8302151	242545840	653533	4	932											
PLEKHG4B	153478	broad.mit.edu	37	5	162009	162009	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr5:162009A>G	ENST00000283426.6	+	10	1581	c.1531A>G	c.(1531-1533)Agg>Ggg	p.R511G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	511					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGCTGAGTGCAGGGAGGGAGA	0.632													7	25					0	0	1	0	0	G	162009	A	G	162009	3	3	51	1	0	0	0	0	1	0	0	0	12120	179	7	4	1569	4	PLEKHG4B	5	162009	Missense_Mutation	SNP	A	TCGA-QR-A70W-01A-12D-A35D-08		162009	180753251	5	933											
KIAA1958	158405	broad.mit.edu	37	9	115421618	115421627	+	Frame_Shift_Del	DEL	CTGGCCACCT	CTGGCCACCT	-			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr9:115421618_115421627delCTGGCCACCT	ENST00000337530.6	+	4	1716_1725	c.1420_1429delCTGGCCACCT	c.(1420-1431)cgfs	p.LATS474fs	KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.LATS502fs	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	474										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTCGGACTTCCTGGCCACCTCGCTCCATGC	0.543													23	55	---	---	---	---						-	115421627	CTGGCCACCT	-	115421618	7	5	51	1	0	1	0	1	0	0	0	0	8306	680	24	0	1430	0	KIAA1958	9	115421618	Frame_Shift_Del	DEL	CTGGCCACCT	TCGA-QR-A70W-01A-12D-A35D-08		115421618	25791813	6	934											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			18	34					0	0	1	0	0	C	533874	T	C	533874	3	2	51	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A70W-01A-12D-A35D-08		533874	134472642	7	935											
PI3	5266	broad.mit.edu	37	20	43804501	43804501	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr20:43804501G>A	ENST00000243924.3	+	2	126		c.e2-1			NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived						copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCTTTTAACAGTTCCTGTTAA	0.448													5	75					0	0	1	0	0	A	43804501	G	A	43804501	5	1	51	1	0	0	0	0	0	0	1	0	11918	1043	36	3	85	3	PI3	20	43804501	Splice_Site	SNP	G	TCGA-QR-A70W-01A-12D-A35D-08		43804501	19221019	8	936											
SHC1	6464	broad.mit.edu	37	1	154942999	154942999	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr1:154942999C>G	ENST00000448116.2	-	1	224	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000368445.5_Missense_Mutation_p.D2H|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368453.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	2				D -> N (in Ref. 3; CAA70977).	activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCAGGAGATCCATAGTTGAG	0.647													32	28					0	0	1	0	0	G	154942999	C	G	154942999	3	3	52	1	0	0	0	0	1	0	0	0	14325	855	30	5	1798	5	SHC1	1	154942999	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08		154942999	94307622	1	937											
LMAN2L	81562	broad.mit.edu	37	2	97373550	97373550	+	Silent	SNP	A	A	G			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr2:97373550A>G	ENST00000264963.4	-	7	827	c.805T>C	c.(805-807)Ttg>Ctg	p.L269L	LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000537039.1_Silent_p.L131L|LMAN2L_ENST00000377079.4_Silent_p.L280L|LMAN2L_ENST00000534882.1_Silent_p.L124L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	269	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AACAACTTCAAGGAAATGACA	0.418													4	75					0	0	1	0	0	G	97373550	A	G	97373550	2	3	52	1	0	0	0	0	0	0	0	1	8880	69	3	4		4	LMAN2L	2	97373550	Silent	SNP	A	TCGA-QR-A70X-01A-11D-A35D-08		97373550	145825823	2	938											
ABCA13	154664	broad.mit.edu	37	7	48327637	48327637	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr7:48327637G>A	ENST00000435803.1	+	20	8941	c.8917G>A	c.(8917-8919)Gct>Act	p.A2973T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2973					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTATCTGCTATACAAGG	0.448													4	89					0	0	1	0	0	A	48327637	G	A	48327637	3	1	52	1	0	0	0	0	1	0	0	0	31	1319	46	3	8824	3	ABCA13	7	48327637	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		48327637	110811026	3	939											
QSOX2	169714	broad.mit.edu	37	9	139118701	139118701	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr9:139118701G>A	ENST00000358701.5	-	2	385	c.348C>T	c.(346-348)cgC>cgT	p.R116R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	116	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGCTGCGACGCGAATGGCAC	0.607											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	35					0	0	1	0	0	A	139118701	G	A	139118701	2	1	52	1	0	0	0	0	0	0	0	1	12936	1074	38	1		1	QSOX2	9	139118701	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		139118701	2094730	4	940											
ANK3	288	broad.mit.edu	37	10	61833944	61833944	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:61833944C>T	ENST00000280772.1	-	37	6886	c.6695G>A	c.(6694-6696)cGg>cAg	p.R2232Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2232					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTAAAACCCGATTGTGGTC	0.413													6	127					0	0	1	0	0	T	61833944	C	T	61833944	3	4	52	1	0	0	0	0	1	0	0	0	618	652	23	2	6779	2	ANK3	10	61833944	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08		61833944	73700803	5	941											
C10orf91	170393	broad.mit.edu	37	10	134261549	134261549	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:134261549C>T	ENST00000392630.3	+	3	483	c.422C>T	c.(421-423)gCg>gTg	p.A141V	C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	141										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TTCAGGAATGCGGCCTTCGAA	0.662													4	91					0	0	1	0	0	T	134261549	C	T	134261549	3	4	52	1	0	0	0	0	1	0	0	0	1628	768	27	1	432	1	C10orf91	10	134261549	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08	72427605	134261549	1273198	6	942											
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													3	103					0	0	1	0	0	C	1606265	G	C	1606265	3	2	52	1	0	0	0	0	1	0	0	0	8598	942	33	5	625	5	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		1606265	133400251	7	943											
SLC22A11	55867	broad.mit.edu	37	11	64323500	64323500	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:64323500C>T	ENST00000301891.4	+	1	403	c.29C>T	c.(28-30)gCc>gTc	p.A10V	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	10					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTGGAGCAAGCCGGAGGCGTG	0.592											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	29					0	0	1	0	0	T	64323500	C	T	64323500	3	4	52	1	0	0	0	0	1	0	0	0	14497	739	26	3	31	3	SLC22A11	11	64323500	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08	62717235	64323500	70683016	8	944											
KRT8	3856	broad.mit.edu	37	12	53295659	53295659	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr12:53295659G>A	ENST00000552551.1	-	3	954	c.522C>T	c.(520-522)gaC>gaT	p.D174D	KRT8_ENST00000546897.1_Silent_p.D174D|KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000293308.6_Silent_p.D174D			P05787	K2C8_HUMAN	keratin 8	174	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCTTGAAGTCCTCCACCA	0.592													13	18					0	0	1	0	0	A	53295659	G	A	53295659	2	1	52	1	0	0	0	0	0	0	0	1	8536	1020	36	3		3	KRT8	12	53295659	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		53295659	80556236	9	945											
TIGD7	91151	broad.mit.edu	37	16	3350052	3350052	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr16:3350052G>A	ENST00000396862.1	-	2	2391	c.563C>T	c.(562-564)cCa>cTa	p.P188L	TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	188	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						agaattttctggcattgactt	0.408													7	160					0	0	1	0	0	A	3350052	G	A	3350052	3	1	52	1	0	0	0	0	1	0	0	0	15961	1348	47	3	1090	3	TIGD7	16	3350052	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		3350052	87004701	10	946											
ATP9B	374868	broad.mit.edu	37	18	76886309	76886309	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr18:76886309G>C	ENST00000426216.2	+	5	618	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	201					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGCAATTGATGAATTTCGGCG	0.348													5	79					0	0	1	0	0	C	76886309	G	C	76886309	3	2	52	1	0	0	0	0	1	0	0	0	1197	1291	45	5	619	5	ATP9B	18	76886309	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		76886309	1190939	11	947											
ANO8	57719	broad.mit.edu	37	19	17444305	17444305	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr19:17444305G>A	ENST00000159087.4	-	3	434	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	92						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGATGAGCTCGGGAATGCCCA	0.652													4	92					0	0	1	0	0	A	17444305	G	A	17444305	2	1	52	1	0	0	0	0	0	0	0	1	697	1103	39	2		2	ANO8	19	17444305	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		17444305	41684678	12	948											
PTTG1IP	754	broad.mit.edu	37	21	46271411	46271411	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr21:46271411G>A	ENST00000445724.2	-	3	374	c.300C>T	c.(298-300)tgC>tgT	p.C100C	PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000397887.3_3'UTR|PTTG1IP_ENST00000330938.3_3'UTR			P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	0					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCAGGAGACCGCAATGGCCAC	0.622													3	37					0	0	1	0	0	A	46271411	G	A	46271411	2	1	52	1	0	0	0	0	0	0	0	1	12872	1102	38	1		1	PTTG1IP	21	46271411	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		46271411	1858484	13	949											
SAMD11	148398	broad.mit.edu	37	1	865539	865539	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:865539delG	ENST00000342066.3	+	3	160	c.77delG	c.(76-78)cgfs	p.R26fs	AL645608.1_ENST00000598827.1_Intron	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	26						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		caccAGAACCGGGGGCGGCTG	0.672													2	4	---	---	---	---						-	865539	G	-	865539	7	5	53	1	0	1	0	1	0	0	0	0	13868	1116	39	0	83	0	SAMD11	1	865539	Frame_Shift_Del	DEL	G	TCGA-QR-A7IN-01A-11D-A35D-08		865539	248385082	1	950											
AHDC1	27245	broad.mit.edu	37	1	27876195	27876195	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:27876195G>A	ENST00000374011.2	-	6	3400	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	AHDC1_ENST00000247087.5_Missense_Mutation_p.S811L|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	811	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCACGGCCTGAGGCTCCACT	0.657													27	23					0	0	1	0	0	A	27876195	G	A	27876195	3	1	53	1	0	0	0	0	1	0	0	0	409	1294	45	3	2383	3	AHDC1	1	27876195	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	27010656	27876195	221374426	2	951											
EPAS1	2034	broad.mit.edu	37	2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592													51	44					0	0	1	0	0	T	46607403	C	T	46607403	3	4	53	1	0	0	0	0	1	0	0	0	5178	623	22	3	1638	3	EPAS1	2	46607403	Missense_Mutation	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		46607403	196591970	3	952											
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196280	+	Splice_Site	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:179196280G>A	ENST00000190611.4	+	6	696	c.318_splice	c.e6-1	p.R107_splice	OSBPL6_ENST00000409631.1_Splice_Site_p.R107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.R107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409045.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.R107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.R86_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.R107_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTC	0.363													4	108					0	0	1	0	0	A	179196280	G	A	179196280	5	1	53	1	0	0	0	0	0	0	1	0	11328	1159	40	1	377	1	OSBPL6	2	179196280	Splice_Site	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	132588877	179196280	64003093	4	953											
GPR128	84873	broad.mit.edu	37	3	100373746	100373746	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr3:100373746C>G	ENST00000273352.3	+	12	1715	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GATTTTCAACCTCCTCTTTGT	0.323													20	25					0	0	1	0	0	G	100373746	C	G	100373746	3	3	53	1	0	0	0	0	1	0	0	0	6681	681	24	5	1493	5	GPR128	3	100373746	Missense_Mutation	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		100373746	97648684	5	954											
CHRNA9	55584	broad.mit.edu	37	4	40356467	40356467	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr4:40356467G>A	ENST00000310169.2	+	5	1509	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	457					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTCATAGACCGATTCTTCATG	0.433													22	72					0	0	1	0	0	A	40356467	G	A	40356467	3	1	53	1	0	0	0	0	1	0	0	0	3411	1058	37	2	1388	2	CHRNA9	4	40356467	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		40356467	150797809	6	955											
ADCY2	108	broad.mit.edu	37	5	7766829	7766829	+	Silent	SNP	C	C	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:7766829C>A	ENST00000338316.4	+	17	2213	c.2124C>A	c.(2122-2124)atC>atA	p.I708I	ADCY2_ENST00000537121.1_Silent_p.I528I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	708					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGGAAACAATCCCTCCAACTG	0.393													37	35					1.90571e-15	2.06452e-15	1	1	0	A	7766829	C	A	7766829	2	1	53	1	0	0	0	0	0	0	0	1	293	845	30	5		5	ADCY2	5	7766829	Silent	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		7766829	173148431	7	956											
PRDM9	56979	broad.mit.edu	37	5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572										HNSCC(3;0.000094)			5	84					0	0	1	0	0	A	23527470	G	A	23527470	3	1	53	1	0	0	0	0	1	0	0	0	12515	1087	38	1	2311	1	PRDM9	5	23527470	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	15760641	23527470	157387790	8	957											
MDC1	9656	broad.mit.edu	37	6	30672358	30672358	+	Silent	SNP	G	G	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr6:30672358G>T	ENST00000376406.3	-	10	5249	c.4602C>A	c.(4600-4602)gcC>gcA	p.A1534A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1534	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGCTCAGGGGCTGCGGGCA	0.592								Other conserved DNA damage response genes					27	138					6.32553e-13	6.57855e-13	1	1	0	T	30672358	G	T	30672358	2	4	53	1	0	0	0	0	0	0	0	1	9453	1219	43	5		5	MDC1	6	30672358	Silent	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		30672358	140442709	9	958											
ATAD2	29028	broad.mit.edu	37	8	124382194	124382194	+	Silent	SNP	A	A	G	rs140021846	byFrequency	TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr8:124382194A>G	ENST00000287394.5	-	7	905	c.798T>C	c.(796-798)gaT>gaC	p.D266D	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	266	Asp-rich.				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)			cgtcatcatcatcatcatctt	0.368													5	31					0	0	1	0	0	G	124382194	A	G	124382194	2	3	53	1	0	0	0	0	0	0	0	1	1070	214	8	4		4	ATAD2	8	124382194	Silent	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		124382194	21981828	10	959											
PSMC3	5702	broad.mit.edu	37	11	47444499	47444499	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr11:47444499A>T	ENST00000298852.3	-	7	774	c.617T>A	c.(616-618)aTg>aAg	p.M206K	PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGTGGTTCATTGGCAAGAC	0.597													4	90					0	0	1	0	0	T	47444499	A	T	47444499	3	4	53	1	0	0	0	0	1	0	0	0	12736	217	8	5	726	5	PSMC3	11	47444499	Missense_Mutation	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		47444499	87562017	11	960											
SLC38A6	145389	broad.mit.edu	37	14	61486268	61486268	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr14:61486268G>A	ENST00000354886.2	+	5	537	c.373G>A	c.(373-375)Gca>Aca	p.A125T	SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125T	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTGGTGGTGGCAGGCACCAT	0.308													5	71					0	0	1	0	0	A	61486268	G	A	61486268	3	1	53	1	0	0	0	0	1	0	0	0	14663	1203	42	3	391	3	SLC38A6	14	61486268	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		61486268	45863272	12	961											
SRRM2	23524	broad.mit.edu	37	16	2815446	2815446	+	Silent	SNP	T	T	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:2815446T>A	ENST00000301740.8	+	11	5466	c.4917T>A	c.(4915-4917)ggT>ggA	p.G1639G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1639	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGATCAGGTTCATCAAGCA	0.562													13	15					0	0	1	0	0	A	2815446	T	A	2815446	2	1	53	1	0	0	0	0	0	0	0	1	15225	1712	60	5		5	SRRM2	16	2815446	Silent	SNP	T	TCGA-QR-A7IN-01A-11D-A35D-08		2815446	87539307	13	962											
IL4R	3566	broad.mit.edu	37	16	27357864	27357864	+	Silent	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:27357864G>A	ENST00000395762.2	+	6	697	c.438G>A	c.(436-438)ccG>ccA	p.P146P	IL4R_ENST00000170630.2_Silent_p.P146P|IL4R_ENST00000380922.3_Silent_p.P131P|IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	146	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGCAACCCGTATCCCCCTG	0.522													3	51					0	0	1	0	0	A	27357864	G	A	27357864	2	1	53	1	0	0	0	0	0	0	0	1	7742	1132	40	1		1	IL4R	16	27357864	Silent	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	24542418	27357864	62996889	14	963											
DNAJC7	7266	broad.mit.edu	37	17	40141571	40141571	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr17:40141571T>C	ENST00000457167.4	-	7	840	c.604A>G	c.(604-606)Att>Gtt	p.I202V	DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	202					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATTCGTAGAATGTCACTGCAA	0.428													24	75					0	0	1	0	0	C	40141571	T	C	40141571	3	2	53	1	0	0	0	0	1	0	0	0	4681	1464	51	4	912	4	DNAJC7	17	40141571	Missense_Mutation	SNP	T	TCGA-QR-A7IN-01A-11D-A35D-08		40141571	41053639	15	964											
CYP4F8	11283	broad.mit.edu	37	19	15739116	15739116	+	RNA	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr19:15739116G>A	ENST00000441682.2	+	0	1181							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTAGGGACGACCTGGCCCA	0.607													35	47					0	0	1	0	0	A	15739116	G	A	15739116	1	1	53	0	1	0	0	0	0	0	0	0	4214	1058	37	2		2	CYP4F8	19	15739116	RNA	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		15739116	43389867	16	965											
ZXDA	7789	broad.mit.edu	37	X	57935103	57935103	+	Silent	SNP	A	A	G			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chrX:57935103A>G	ENST00000358697.4	-	1	1964	c.1752T>C	c.(1750-1752)ctT>ctC	p.L584L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	584	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTGGGTGTAAGAGAATTTG	0.458													3	55					0	0	1	0	0	G	57935103	A	G	57935103	2	3	53	1	0	0	0	0	0	0	0	1	18290	349	13	4		4	ZXDA	23	57935103	Silent	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		57935103	97335457	17	966											
PRDM2	7799	broad.mit.edu	37	1	14106458	14106458	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:14106458C>A	ENST00000235372.7	+	8	3024	c.2168C>A	c.(2167-2169)gCa>gAa	p.A723E	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	723						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTGCTCCTGCATCAATGTTG	0.473													4	89					0.000602214	0.000642362	1	1	0	A	14106458	C	A	14106458	3	1	54	1	0	0	0	0	1	0	0	0	12510	710	25	5	2194	5	PRDM2	1	14106458	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		14106458	235144163	1	967											
ACTL8	81569	broad.mit.edu	37	1	18152586	18152586	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:18152586C>T	ENST00000375406.1	+	3	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	225						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	1	0	0	T	18152586	C	T	18152586	3	4	54	1	0	0	0	0	1	0	0	0	202	884	31	2	679	2	ACTL8	1	18152586	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08	4046128	18152586	231098035	2	968											
FAM63A	55793	broad.mit.edu	37	1	150975138	150975138	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:150975138C>A	ENST00000361738.6	-	3	319	c.100G>T	c.(100-102)Gtt>Ttt	p.V34F	FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000361936.5_5'UTR|FAM63A_ENST00000493834.2_Intron	NM_001163258.1	NP_001156730.1	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	0							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTTTACTAACCTCAGGGACT	0.517													13	21					2.27111e-07	2.90702e-07	1	1	0	A	150975138	C	A	150975138	3	1	54	1	0	0	0	0	1	0	0	0	5631	507	18	5	1489	5	FAM63A	1	150975138	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08	132822552	150975138	98275483	3	969											
HS1BP3	64342	broad.mit.edu	37	2	20818912	20818912	+	Silent	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr2:20818912C>T	ENST00000304031.3	-	7	1039	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	338	Pro-rich.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTATCACCGGCTTAGCTG	0.597													6	173					0	0	1	0	0	T	20818912	C	T	20818912	2	4	54	1	0	0	0	0	0	0	0	1	7402	639	23	2		2	HS1BP3	2	20818912	Silent	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		20818912	222380461	4	970											
PROS1	5627	broad.mit.edu	37	3	93646235	93646235	+	Translation_Start_Site	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr3:93646235C>A	ENST00000407433.1	-	0	260				PROS1_ENST00000394236.3_Missense_Mutation_p.Q31H			P07225	PROS_HUMAN	protein S (alpha)						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTGTGAAGCCTGTTGCTTTG	0.318													4	58					0.00024832	0.000274008	1	1	0	A	93646235	C	A	93646235	1	1	54	1	0	0	0	0	0	0	0	0	12610	680	24	5		5	PROS1	3	93646235	Translation_Start_Site	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		93646235	104376195	5	971											
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537													4	41					0	0	1	0	0	T	140811108	C	T	140811108	2	4	54	1	0	0	0	0	0	0	0	1	9257	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		140811108	50343168	6	972											
STAG3L2	0	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455													2	4	---	---	---	---						A	74300804	-	A	74300803	6	5	54	0	1	1	1	0	0	0	0	0	15301	1769	61	0		0	STAG3L2	7	74300803	RNA	INS	-	TCGA-QR-A7IP-01A-11D-A35D-08		74300803	84837860	7	973											
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)agfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328													8	400	---	---	---	---						-	101076229	T	-	101076229	7	5	54	1	0	1	0	1	0	0	0	0	13355	1609	56	0	3107	0	RGS22	8	101076229	Frame_Shift_Del	DEL	T	TCGA-QR-A7IP-01A-11D-A35D-08		101076229	45287793	8	974											
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													3	39					0	0	1	0	0	A	33068870	G	A	33068870	2	1	54	1	0	0	0	0	0	0	0	1	14871	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		33068870	108144561	9	975											
TLR4	7099	broad.mit.edu	37	9	120474689	120474689	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:120474689G>T	ENST00000355622.6	+	3	384	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	95					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACAATTGAAGATGGGGCATA	0.378													3	32					0.115264	0.115264	1	1	0	T	120474689	G	T	120474689	3	4	54	1	0	0	0	0	1	0	0	0	16013	942	33	5	293	5	TLR4	9	120474689	Missense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08	87405819	120474689	20738742	10	976											
TACC2	10579	broad.mit.edu	37	10	123843740	123843740	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr10:123843740C>A	ENST00000369005.1	+	4	2065	c.1725C>A	c.(1723-1725)agC>agA	p.S575R	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	575						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGTGACAGCCCTGGAGGAA	0.602													20	59					1.64113e-05	1.94505e-05	1	1	0	A	123843740	C	A	123843740	3	1	54	1	0	0	0	0	1	0	0	0	15559	738	26	5	1735	5	TACC2	10	123843740	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		123843740	11691007	11	977											
IGSF22	283284	broad.mit.edu	37	11	18732256	18732256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr11:18732256G>A	ENST00000513874.1	-	16	2657	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	838	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTTCCTTCGTTCTACAATG	0.567													29	14					0	0	1	0	0	A	18732256	G	A	18732256	4	1	54	1	0	0	0	0	0	1	0	0	7644	1153	40	1	1494	1	IGSF22	11	18732256	Nonsense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		18732256	116274260	12	978											
LUM	4060	broad.mit.edu	37	12	91502054	91502054	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr12:91502054G>A	ENST00000266718.4	-	2	1157	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	235					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R235C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGAGATAAACGCAGATACTGC	0.403													49	87					0	0	1	0	0	A	91502054	G	A	91502054	3	1	54	1	0	0	0	0	1	0	0	0	9130	1087	38	1	321	1	LUM	12	91502054	Missense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		91502054	42349841	13	979											
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													3	17					0	0	1	0	0	C	18937330	T	C	18937330	3	2	54	1	0	0	0	0	1	0	0	0	14849	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-QR-A7IP-01A-11D-A35D-08		18937330	71417423	14	980											
MAP1LC3B	81631	broad.mit.edu	37	16	87426052	87426052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:87426052delT	ENST00000268607.5	+	1	647	c.19delT	c.(19-21)tcfs	p.F7fs	MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	7					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GGAGAAGACCTTCAAGCAGCG	0.786													2	4	---	---	---	---						-	87426052	T	-	87426052	7	5	54	1	0	1	0	1	0	0	0	0	9281	1609	56	0	21	0	MAP1LC3B	16	87426052	Frame_Shift_Del	DEL	T	TCGA-QR-A7IP-01A-11D-A35D-08	68488722	87426052	2928701	15	981											
STX8	9482	broad.mit.edu	37	17	9153924	9153924	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr17:9153924C>T	ENST00000306357.3	-	8	1109	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	STX8_ENST00000574431.1_Missense_Mutation_p.V117M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	228					transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCAACAACCACGATAGCCACA	0.463													4	12					0	0	1	0	0	T	9153924	C	T	9153924	3	4	54	1	0	0	0	0	1	0	0	0	15407	536	19	1	32	1	STX8	17	9153924	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		9153924	72041286	16	982											
PSG2	5670	broad.mit.edu	37	19	43585116	43585116	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr19:43585116T>C	ENST00000406487.1	-	2	445	c.347A>G	c.(346-348)gAc>gGc	p.D116G		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	116	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGATCCTGCGTCCTCCCGGGT	0.453													123	182					0	0	1	0	0	C	43585116	T	C	43585116	3	2	54	1	0	0	0	0	1	0	0	0	12704	1667	58	4	676	4	PSG2	19	43585116	Missense_Mutation	SNP	T	TCGA-QR-A7IP-01A-11D-A35D-08		43585116	15543867	17	983											
BAGE2	85319	broad.mit.edu	37	21	11039035	11039035	+	RNA	SNP	A	A	G			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr21:11039035A>G	ENST00000470054.1	-	0	1168									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)		CAATTGTAGGAGTCATTTCAG	0.378													23	604					0	0	1	0	0	G	11039035	A	G	11039035	1	3	54	0	1	0	0	0	0	0	0	0	1290	319	11	4		4	BAGE2	21	11039035	RNA	SNP	A	TCGA-QR-A7IP-01A-11D-A35D-08		11039035	37090860	18	984											
TTLL1	25809	broad.mit.edu	37	22	43465690	43465690	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr22:43465690C>T	ENST00000331018.7	-	4	514	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	TTLL1_ENST00000266254.7_Missense_Mutation_p.G92R			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	92	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGAGGACTCCCTTCTTTCTCC	0.428													40	196					0	0	1	0	0	T	43465690	C	T	43465690	3	4	54	1	0	0	0	0	1	0	0	0	16784	681	24	3	1029	3	TTLL1	22	43465690	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		43465690	7838876	19	985											
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	rs1047054	by1000genomes	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438													3	27					0	0	1	0	0	A	55172537	G	A	55172537	4	1	54	1	0	0	0	0	0	1	0	0	5417	1095	38	1	124	1	FAM104B	23	55172537	Nonsense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		55172537	100098023	20	986											
IRAK1	3654	broad.mit.edu	37	X	153285123	153285123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chrX:153285123delC	ENST00000393682.1	-	1	140	c.141delG	c.(139-141)ggfs	p.G47fs	IRAK1_ENST00000429936.2_Frame_Shift_Del_p.G47fs|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369980.3_Intron|IRAK1_ENST00000369974.2_Intron			P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	45	Death.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					cccgccgccACCCACCGAACT	0.746													2	4	---	---	---	---						-	153285123	C	-	153285123	7	5	54	1	0	1	0	1	0	0	0	0	7865	522	18	0		0	IRAK1	23	153285123	Frame_Shift_Del	DEL	C	TCGA-QR-A7IP-01A-11D-A35D-08	98112586	153285123	1985437	21	987											
UBR4	23352	broad.mit.edu	37	1	19481549	19481549	+	Silent	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:19481549C>G	ENST00000375267.2	-	44	6324	c.6321G>C	c.(6319-6321)gcG>gcC	p.A2107A	UBR4_ENST00000375254.3_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A|UBR4_ENST00000375226.2_Silent_p.A2107A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483													36	58					0	0	1	0	0	G	19481549	C	G	19481549	2	3	55	1	0	0	0	0	0	0	0	1	16965	639	23	5		5	UBR4	1	19481549	Silent	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		19481549	229769072	1	988											
PRKACB	5567	broad.mit.edu	37	1	84647929	84647929	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:84647929C>G	ENST00000370689.2	+	3	419	c.155C>G	c.(154-156)aCa>aGa	p.T52R	PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R|PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	52	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACCCTTGGAACAGGTTCATTT	0.323													41	8					0	0	1	0	0	G	84647929	C	G	84647929	3	3	55	1	0	0	0	0	1	0	0	0	12550	478	17	5	356	5	PRKACB	1	84647929	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	65166380	84647929	164602692	2	989											
IVL	3713	broad.mit.edu	37	1	152883994	152883994	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:152883994A>G	ENST00000368764.3	+	2	1785	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	IVL_ENST00000392667.2_Missense_Mutation_p.Q428R			P07476	INVO_HUMAN	involucrin	574					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGCAGCAGAAGCAGGAG	0.567													19	37					0	0	1	0	0	G	152883994	A	G	152883994	3	3	55	1	0	0	0	0	1	0	0	0	7973	188	7	4	1723	4	IVL	1	152883994	Missense_Mutation	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08	68236065	152883994	96366627	3	990											
SUSD4	55061	broad.mit.edu	37	1	223536702	223536703	+	In_Frame_Ins	INS	-	-	TGC	rs143929528	by1000genomes	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:223536702_223536703insTGC	ENST00000343846.3	-	1	698_699	c.65_66insGCA	c.(64-66)ccc>cGCAcc	p.22_22P>RT	SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000342943.3_In_Frame_Ins_p.22_22P>RT			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	22						integral to membrane		p.Q22R(2)|p.Q22delQ(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGGACTGAGGTtgctgctgctg	0.574													4	7	---	---	---	---						TGC	223536703	-	TGC	223536702	7	5	55	1	0	1	1	0	0	0	0	0	15466	1722	60	0	1591	0	SUSD4	1	223536702	In_Frame_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	70652708	223536702	25713919	4	991											
NOP58	51602	broad.mit.edu	37	2	203155921	203155921	+	Silent	SNP	A	A	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr2:203155921A>C	ENST00000264279.5	+	8	934	c.708A>C	c.(706-708)gcA>gcC	p.A236A		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	236				KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084).	cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AAGTGAAAGCAGCTGCAGAGA	0.433													48	62					0	0	1	0	0	C	203155921	A	C	203155921	2	2	55	1	0	0	0	0	0	0	0	1	10587	175	7	5		5	NOP58	2	203155921	Silent	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		203155921	40043452	5	992											
SEMA3F	6405	broad.mit.edu	37	3	50212532	50212532	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr3:50212532delA	ENST00000002829.3	+	6	944	c.460delA	c.(460-462)cafs	p.T154fs	SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	154	Sema.			Missing (in Ref. 2).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCTCAGGCCACACCATGGAC	0.687													2	4	---	---	---	---						-	50212532	A	-	50212532	7	5	55	1	0	1	0	1	0	0	0	0	14083	159	6	0	478	0	SEMA3F	3	50212532	Frame_Shift_Del	DEL	A	TCGA-QT-A5XJ-01A-11D-A35D-08		50212532	147809898	6	993											
OLIG3	167826	broad.mit.edu	37	6	137814559	137814559	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr6:137814559G>A	ENST00000367734.2	-	1	972	c.749C>T	c.(748-750)cCg>cTg	p.P250L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	250	Poly-Pro.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGACAGGTGCGGCGGCGGCGG	0.716													7	6					0	0	1	0	0	A	137814559	G	A	137814559	3	1	55	1	0	0	0	0	1	0	0	0	10910	1116	39	2	73	2	OLIG3	6	137814559	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		137814559	33300508	7	994											
TFR2	7036	broad.mit.edu	37	7	100238453	100238453	+	Missense_Mutation	SNP	G	G	A	rs139318596		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr7:100238453G>A	ENST00000462107.1	-	4	616	c.329C>T	c.(328-330)gCg>gTg	p.A110V	TFR2_ENST00000223051.3_Missense_Mutation_p.A110V|TFR2_ENST00000431692.1_Missense_Mutation_p.A110V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	110					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTCTCCGCACGCCTGGCAGGA	0.592													25	35					0	0	1	0	0	A	100238453	G	A	100238453	3	1	55	1	0	0	0	0	1	0	0	0	15871	1087	38	1	2140	1	TFR2	7	100238453	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		100238453	58900210	8	995											
ARID3C	138715	broad.mit.edu	37	9	34622507	34622507	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr9:34622507G>T	ENST00000378909.2	-	5	977	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	295	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCAGACAAGGGTTTGGAATTC	0.572													31	39					6.84511e-11	6.84511e-11	1	1	0	T	34622507	G	T	34622507	3	4	55	1	0	0	0	0	1	0	0	0	915	1252	44	5	364	5	ARID3C	9	34622507	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		34622507	106590924	9	996											
LARP4B	23185	broad.mit.edu	37	10	890943	890943	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:890943T>G	ENST00000316157.3	-	5	523	c.483A>C	c.(481-483)aaA>aaC	p.K161N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	161	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCAATGTTTTTTTAAGTACTT	0.358													44	47					0	0	1	0	0	G	890943	T	G	890943	3	3	55	1	0	0	0	0	1	0	0	0	8670	1838	64	5	1785	5	LARP4B	10	890943	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08		890943	134643804	10	997											
DHTKD1	55526	broad.mit.edu	37	10	12162226	12162226	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:12162226C>G	ENST00000263035.4	+	16	2680	c.2618C>G	c.(2617-2619)tCg>tGg	p.S873W		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	873					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGTCCGTGGTCGTTTGTTTCT	0.443													78	100					0	0	1	0	0	G	12162226	C	G	12162226	3	3	55	1	0	0	0	0	1	0	0	0	4528	893	31	5	2680	5	DHTKD1	10	12162226	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	11271283	12162226	123372521	11	998											
EPC1	80314	broad.mit.edu	37	10	32581929	32581930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:32581929_32581930insT	ENST00000319778.6	-	4	954_955	c.652_653insA	c.(652-654)gcafs	p.A218fs	EPC1_ENST00000375110.2_Frame_Shift_Ins_p.A168fs|EPC1_ENST00000263062.8_Frame_Shift_Ins_p.A218fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	218					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCGAGTCTGCATTTTTTCAGTA	0.322													33	39	---	---	---	---						T	32581930	-	T	32581929	7	5	55	1	0	1	1	0	0	0	0	0	5188	217	8	0	1905	0	EPC1	10	32581929	Frame_Shift_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	20419703	32581929	102952818	12	999											
BAG3	9531	broad.mit.edu	37	10	121436654	121436654	+	Missense_Mutation	SNP	G	G	A	rs144678100	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:121436654G>A	ENST00000369085.3	+	4	1894	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	530					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GATGGGTGCCGTGGCAGCAGA	0.542													4	92					0	0	1	0	0	A	121436654	G	A	121436654	3	1	55	1	0	0	0	0	1	0	0	0	1286	1145	40	1	1602	1	BAG3	10	121436654	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	88854725	121436654	14098093	13	1000											
OR52I2	143502	broad.mit.edu	37	11	4608623	4608623	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:4608623G>C	ENST00000312614.4	+	1	603	c.581G>C	c.(580-582)aGt>aCt	p.S194T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGATGGTGAGTCATCTACCT	0.507													50	42					0	0	1	0	0	C	4608623	G	C	4608623	3	2	55	1	0	0	0	0	1	0	0	0	11169	1029	36	5	583	5	OR52I2	11	4608623	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		4608623	130397893	14	1001											
PTPN5	84867	broad.mit.edu	37	11	18764923	18764924	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:18764923_18764924insT	ENST00000358540.2	-	5	774_775	c.344_345insA	c.(343-345)agcfs	p.S115fs	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.S115fs|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.S91fs	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	115						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTTTGTGGCGTTCTGTGACCA	0.604													45	75	---	---	---	---						T	18764924	-	T	18764923	7	5	55	1	0	1	1	0	0	0	0	0	12843	1136	40	0	1396	0	PTPN5	11	18764923	Frame_Shift_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	14156300	18764923	116241593	15	1002											
PRG2	5553	broad.mit.edu	37	11	57154992	57154992	+	Nonsense_Mutation	SNP	G	G	A	rs143145891		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:57154992G>A	ENST00000311862.5	-	6	698	c.625C>T	c.(625-627)Cga>Tga	p.R209*	PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209*|PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGGGCTCGACGCCAGTGG	0.592													52	33					0	0	1	0	0	A	57154992	G	A	57154992	4	1	55	1	0	0	0	0	0	1	0	0	12531	1066	37	2	47	2	PRG2	11	57154992	Nonsense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	38390069	57154992	77851524	16	1003											
SOX5	6660	broad.mit.edu	37	12	23818383	23818383	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:23818383C>A	ENST00000546136.1	-	6	889	c.887G>T	c.(886-888)gGa>gTa	p.G296V	SOX5_ENST00000545921.1_Missense_Mutation_p.G299V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000451604.2_Missense_Mutation_p.G309V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	309					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTACTACATCCAGCCTTATA	0.478													95	118					3.82633e-55	4.13657e-55	1	1	0	A	23818383	C	A	23818383	3	1	55	1	0	0	0	0	1	0	0	0	15008	855	30	5	1411	5	SOX5	12	23818383	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		23818383	110033512	17	1004											
NR1H4	9971	broad.mit.edu	37	12	100904692	100904692	+	Silent	SNP	C	C	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:100904692C>T	ENST00000548884.1	+	4	757	c.216C>T	c.(214-216)ttC>ttT	p.F72F	NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F|NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000551379.1_Silent_p.F82F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	82					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ACCTGGGTTTCTACCCCCAGC	0.483													34	48					0	0	1	0	0	T	100904692	C	T	100904692	2	4	55	1	0	0	0	0	0	0	0	1	10667	912	32	3		3	NR1H4	12	100904692	Silent	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	77086309	100904692	32947203	18	1005											
DOCK9	23348	broad.mit.edu	37	13	99533880	99533880	+	Splice_Site	SNP	C	C	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr13:99533880C>T	ENST00000376460.1	-	25	2757	c.2675_splice	c.e25-1	p.V893_splice	DOCK9_ENST00000442173.1_Splice_Site_p.V893_splice|DOCK9_ENST00000448493.2_Splice_Site_p.V905_splice|DOCK9_ENST00000339416.2_Splice_Site_p.V894_splice	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	894					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAATAATGACCCTACACACC	0.388													3	8					0	0	1	0	0	T	99533880	C	T	99533880	5	4	55	1	0	0	0	0	0	0	1	0	4721	521	18	3	3718	3	DOCK9	13	99533880	Splice_Site	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		99533880	15635998	19	1006											
GAS6	2621	broad.mit.edu	37	13	114550011	114550012	+	Frame_Shift_Ins	INS	-	-	TCCC			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr13:114550011_114550012insTCCC	ENST00000355761.4	-	1	44_45	c.45_46insGGGA	c.(43-48)gggtctfs	p.S16fs	GAS6_ENST00000357389.3_Intron|GAS6_ENST00000327773.6_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	0					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GACAGCAGACATCCCGCTAGGG	0.614													4	6	---	---	---	---						TCCC	114550012	-	TCCC	114550011	7	5	55	1	0	1	1	0	0	0	0	0	6289	232	8	0		0	GAS6	13	114550011	Frame_Shift_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	15016131	114550011	619867	20	1007											
HECTD1	25831	broad.mit.edu	37	14	31581747	31581747	+	Missense_Mutation	SNP	T	T	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:31581747T>A	ENST00000399332.1	-	35	6641	c.6153A>T	c.(6151-6153)gaA>gaT	p.E2051D	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2051	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGCCAATGGTTCCTGCGAAT	0.378													36	36					0	0	1	0	0	A	31581747	T	A	31581747	3	1	55	1	0	0	0	0	1	0	0	0	7080	1722	60	5	1715	5	HECTD1	14	31581747	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08		31581747	75767793	21	1008											
RPS6KA5	9252	broad.mit.edu	37	14	91338482	91338482	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:91338482G>T	ENST00000261991.3	-	17	2518	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	782					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGGATTGCTGGGCTGCAGTGT	0.522													80	39					5.72124e-26	6.02236e-26	1	1	0	T	91338482	G	T	91338482	3	4	55	1	0	0	0	0	1	0	0	0	13706	1232	43	5	67	5	RPS6KA5	14	91338482	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	59756735	91338482	16011058	22	1009											
DUOX1	53905	broad.mit.edu	37	15	45440569	45440569	+	Silent	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr15:45440569A>G	ENST00000321429.4	+	22	3149	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	914	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAAGGAGGAACTGACATGGG	0.572													4	75					0	0	1	0	0	G	45440569	A	G	45440569	2	3	55	1	0	0	0	0	0	0	0	1	4826	40	2	4		4	DUOX1	15	45440569	Silent	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		45440569	57090823	23	1010											
GLOD4	51031	broad.mit.edu	37	17	680227	680227	+	Splice_Site	SNP	G	G	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:680227G>T	ENST00000301329.6	-	3	227	c.140_splice	c.e3-1	p.P48_splice	GLOD4_ENST00000536578.1_Splice_Site_p.P39_splice|GLOD4_ENST00000301328.5_Splice_Site_p.P63_splice	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	63						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCATCATAAGGCCTAGAAAAT	0.453													35	38					2.20262e-25	2.2591e-25	1	1	0	T	680227	G	T	680227	5	4	55	1	0	0	0	0	0	0	1	0	6492	1217	42	5	782	5	GLOD4	17	680227	Splice_Site	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		680227	80514983	24	1011											
POLR2A	5430	broad.mit.edu	37	17	7417036	7417036	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:7417036A>G	ENST00000322644.6	+	29	5852	c.5453A>G	c.(5452-5454)tAt>tGt	p.Y1818C		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1818	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCTCCAACCTATACCCCAAGC	0.582													117	147					0	0	1	0	0	G	7417036	A	G	7417036	3	3	55	1	0	0	0	0	1	0	0	0	12262	449	16	4	5567	4	POLR2A	17	7417036	Missense_Mutation	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08	6736809	7417036	73778174	25	1012											
FDXR	2232	broad.mit.edu	37	17	72868221	72868221	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:72868221G>A	ENST00000442102.2	-	2	203	c.117C>T	c.(115-117)ccC>ccT	p.P39P	FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000293195.5_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR|FDXR_ENST00000582944.1_Silent_p.P39P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	39					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CACAGATCTGGGGGGTCTTCT	0.547													11	22					0	0	1	0	0	A	72868221	G	A	72868221	2	1	55	1	0	0	0	0	0	0	0	1	5840	1219	43	3		3	FDXR	17	72868221	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	65451185	72868221	8326989	26	1013											
EPOR	2057	broad.mit.edu	37	19	11492639	11492639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:11492639G>A	ENST00000592375.2	-	3	498	c.394C>T	c.(394-396)Cga>Tga	p.R132*	EPOR_ENST00000222139.6_Nonsense_Mutation_p.R132*			P19235	EPOR_HUMAN	erythropoietin receptor	132						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CGGTGATATCGCGGAGCGCCG	0.617											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0	A	11492639	G	A	11492639	4	1	55	1	0	0	0	0	0	1	0	0	5217	1095	38	1	1156	1	EPOR	19	11492639	Nonsense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		11492639	47636344	27	1014											
PKN1	5585	broad.mit.edu	37	19	14574926	14574926	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:14574926G>A	ENST00000242783.6	+	12	1857	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	PKN1_ENST00000342216.4_Silent_p.Q570Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	564					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCACCTCAGAAGAGCTCGC	0.647													49	57					0	0	1	0	0	A	14574926	G	A	14574926	2	1	55	1	0	0	0	0	0	0	0	1	12027	933	33	3		3	PKN1	19	14574926	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	3082287	14574926	44554057	28	1015											
ZNF676	163223	broad.mit.edu	37	19	22364263	22364263	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:22364263T>C	ENST00000397121.2	-	3	573	c.256A>G	c.(256-258)Acc>Gcc	p.T86A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCCACATTGGTACAACTAATT	0.338													56	76					0	0	1	0	0	C	22364263	T	C	22364263	3	2	55	1	0	0	0	0	1	0	0	0	18140	1638	57	4	1514	4	ZNF676	19	22364263	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08	7789337	22364263	36764720	29	1016											
MATN4	8785	broad.mit.edu	37	20	43933259	43933259	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr20:43933259G>A	ENST00000537548.1	-	4	496	c.252C>T	c.(250-252)agC>agT	p.S84S	MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000372754.1_Silent_p.S84S|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Silent_p.S84S|MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000360607.5_Silent_p.S84S			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAGGGAAGACGCTCTGCACTT	0.652													23	26					0	0	1	0	0	A	43933259	G	A	43933259	2	1	55	1	0	0	0	0	0	0	0	1	9386	1078	38	1		1	MATN4	20	43933259	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		43933259	19092261	30	1017											
BAGE2	85319	broad.mit.edu	37	21	11049520	11049520	+	RNA	DEL	C	C	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr21:11049520delC	ENST00000470054.1	-	0	588									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)		ACCGCTGTATCCAGGCACATT	0.458													9	190	---	---	---	---						-	11049520	C	-	11049520	6	5	55	0	1	1	0	1	0	0	0	0	1290	870	30	0		0	BAGE2	21	11049520	RNA	DEL	C	TCGA-QT-A5XJ-01A-11D-A35D-08		11049520	37080375	31	1018											
KRTAP6-2	337967	broad.mit.edu	37	21	31971176	31971176	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr21:31971176G>A	ENST00000334897.3	-	1	43	c.18C>T	c.(16-18)taC>taT	p.Y6Y		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	6						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGTTTCCGTAGTAGCTGC	0.522													30	40					0	0	1	0	0	A	31971176	G	A	31971176	2	1	55	1	0	0	0	0	0	0	0	1	8609	1140	40	1		1	KRTAP6-2	21	31971176	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	20921656	31971176	16158719	32	1019											
TBC1D8B	54885	broad.mit.edu	37	X	106082536	106082536	+	Splice_Site	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chrX:106082536A>G	ENST00000357242.5	+	8	1377		c.e8-1		TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCTTTTTCAGCTTGCTATT	0.363													4	95					0	0	1	0	0	G	106082536	A	G	106082536	5	3	55	1	0	0	0	0	0	0	1	0	15686	202	7	4	1232	4	TBC1D8B	23	106082536	Splice_Site	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		106082536	49188024	33	1020											
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512													9	973					0	0	1	0	0	G	152128186	A	G	152128186	2	3	56	1	0	0	0	0	0	0	0	1	13716	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		152128186	97122435	1	1021											
POTEF	728378	broad.mit.edu	37	2	130877845	130877845	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:130877845C>T	ENST00000357462.5	-	1	337	c.244G>A	c.(244-246)Gct>Act	p.A82T	POTEF_ENST00000360967.5_Missense_Mutation_p.A82T|POTEF_ENST00000361163.4_Missense_Mutation_p.A82T|POTEF_ENST00000409914.2_Missense_Mutation_p.A82T			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	82						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTCCAGAAGCGCCCACGTTG	0.602													5	388					0	0	1	0	0	T	130877845	C	T	130877845	3	4	56	1	0	0	0	0	1	0	0	0	12312	768	27	1	3043	1	POTEF	2	130877845	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		130877845	112321528	2	1022											
SMPD4	55627	broad.mit.edu	37	2	130930857	130930857	+	Silent	SNP	A	A	G	rs151328892	by1000genomes	TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:130930857A>G	ENST00000409031.1	-	5	1605	c.457T>C	c.(457-459)Ttg>Ctg	p.L153L	SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000351288.6_Silent_p.L153L|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	114					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTTACAGGCAAGTAGGAGACA	0.488													4	116					0	0	1	0	0	G	130930857	A	G	130930857	2	3	56	1	0	0	0	0	0	0	0	1	14861	69	3	4		4	SMPD4	2	130930857	Silent	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08	53012	130930857	112268516	3	1023											
CPS1	1373	broad.mit.edu	37	2	211473267	211473267	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:211473267T>C	ENST00000233072.5	+	19	2571	c.2375T>C	c.(2374-2376)aTg>aCg	p.M792T	CPS1_ENST00000430249.2_Missense_Mutation_p.M798T|CPS1_ENST00000451903.2_Missense_Mutation_p.M341T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	792					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTAGCTCTATGAAAAGTGTA	0.418													4	117					0	0	1	0	0	C	211473267	T	C	211473267	3	2	56	1	0	0	0	0	1	0	0	0	3846	1464	51	4	2471	4	CPS1	2	211473267	Missense_Mutation	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08	80542410	211473267	31726106	4	1024											
HRG	3273	broad.mit.edu	37	3	186395480	186395480	+	Silent	SNP	T	T	C			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr3:186395480T>C	ENST00000232003.4	+	7	1466	c.1386T>C	c.(1384-1386)ccT>ccC	p.P462P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	462	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCGACTCCCTCCTCTAAGAA	0.552													37	30					0	0	1	0	0	C	186395480	T	C	186395480	2	2	56	1	0	0	0	0	0	0	0	1	7395	1538	54	4		4	HRG	3	186395480	Silent	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		186395480	11626950	5	1025											
GC	2638	broad.mit.edu	37	4	72629626	72629626	+	Silent	SNP	G	G	A	rs149884974	byFrequency	TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr4:72629626G>A	ENST00000273951.8	-	5	844	c.501C>T	c.(499-501)taC>taT	p.Y167Y	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.Y186Y|GC_ENST00000513476.1_Silent_p.Y167Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	167	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.Y167Y(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GAGCTTGTCCGTAATTAGTGG	0.363													9	83					0	0	1	0	0	A	72629626	G	A	72629626	2	1	56	1	0	0	0	0	0	0	0	1	6322	1140	40	1		1	GC	4	72629626	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		72629626	118524650	6	1026											
CDH6	1004	broad.mit.edu	37	5	31299603	31299603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:31299603C>T	ENST00000265071.2	+	5	941	c.676C>T	c.(676-678)Cga>Tga	p.R226*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.R171*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	226	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACATGGATCGAGAAAACAG	0.438													4	82					0	0	1	0	0	T	31299603	C	T	31299603	4	4	56	1	0	0	0	0	0	1	0	0	3136	876	31	2	690	2	CDH6	5	31299603	Nonsense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		31299603	149615657	7	1027											
DHX29	54505	broad.mit.edu	37	5	54579230	54579230	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:54579230C>T	ENST00000251636.5	-	11	1914	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	589	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AACCACTACCCGATGCCTTTT	0.398													5	202					0	0	1	0	0	T	54579230	C	T	54579230	3	4	56	1	0	0	0	0	1	0	0	0	4531	652	23	2	2411	2	DHX29	5	54579230	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08	23279627	54579230	126336030	8	1028											
PCDHB5	0	broad.mit.edu	37	5	140517245	140517245	+	Silent	SNP	C	C	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:140517245C>T	ENST00000231134.5	+	1	2446	c.2229C>T	c.(2227-2229)acC>acT	p.T743T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCGGGACCCTATCCCAGA	0.642													26	236					0	0	1	0	0	T	140517245	C	T	140517245	2	4	56	1	0	0	0	0	0	0	0	1	11592	610	22	3		3	PCDHB5	5	140517245	Silent	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08	85938015	140517245	40398015	9	1029											
ROS1	6098	broad.mit.edu	37	6	117662679	117662679	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr6:117662679C>T	ENST00000368508.3	-	29	4984	c.4786G>A	c.(4786-4788)Gca>Aca	p.A1596T	ROS1_ENST00000368507.3_Missense_Mutation_p.A1590T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1596	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGAGATTGCCAACTGATAA	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	95					0	0	1	0	0	T	117662679	C	T	117662679	3	4	56	1	0	0	0	0	1	0	0	0	13583	739	26	3	2317	3	ROS1	6	117662679	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		117662679	53452388	10	1030											
CRB2	286204	broad.mit.edu	37	9	126133381	126133381	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr9:126133381G>A	ENST00000373631.3	+	8	1961	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	CRB2_ENST00000359999.3_Missense_Mutation_p.A654T|CRB2_ENST00000373629.2_Missense_Mutation_p.A322T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	654	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGGGAGGCGCCCCAAGCTC	0.617													4	138					0	0	1	0	0	A	126133381	G	A	126133381	3	1	56	1	0	0	0	0	1	0	0	0	3872	1087	38	1	1990	1	CRB2	9	126133381	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		126133381	15080050	11	1031											
ANGPTL2	23452	broad.mit.edu	37	9	129870241	129870241	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr9:129870241G>C	ENST00000373425.3	-	2	1387	c.770C>G	c.(769-771)aCt>aGt	p.T257S	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'UTR|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	257					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGTGGGCATAGTGGGCAGAGG	0.577													26	52					0	0	1	0	0	C	129870241	G	C	129870241	3	2	56	1	0	0	0	0	1	0	0	0	610	1029	36	5	727	5	ANGPTL2	9	129870241	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	3736860	129870241	11343190	12	1032											
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase.		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				53	131					0	0	1	0	0	C	43617416	T	C	43617416	3	2	56	1	0	0	0	0	1	0	0	0	13287	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		43617416	91917331	13	1033											
IMMP1L	196294	broad.mit.edu	37	11	31477878	31477878	+	Silent	SNP	T	T	G			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr11:31477878T>G	ENST00000278200.1	-	5	445	c.250A>C	c.(250-252)Aga>Cga	p.R84R	IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000532287.1_Silent_p.R84R|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	84					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					CCAATTACTCTTTTACAAATA	0.318													7	50					0	0	1	0	0	G	31477878	T	G	31477878	2	3	56	1	0	0	0	0	0	0	0	1	7760	1617	56	5		5	IMMP1L	11	31477878	Silent	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		31477878	103528638	14	1034											
FNDC3A	22862	broad.mit.edu	37	13	49765404	49765404	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr13:49765404A>G	ENST00000492622.2	+	19	2415	c.2110A>G	c.(2110-2112)Ata>Gta	p.I704V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.I704V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.I648V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	704	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AATGTCTCCTATAGAAAAAGA	0.413													12	81					0	0	1	0	0	G	49765404	A	G	49765404	3	3	56	1	0	0	0	0	1	0	0	0	6002	449	16	4	2191	4	FNDC3A	13	49765404	Missense_Mutation	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		49765404	65404474	15	1035											
FOS	2353	broad.mit.edu	37	14	75746642	75746642	+	Silent	SNP	G	G	A			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr14:75746642G>A	ENST00000303562.4	+	2	413	c.204G>A	c.(202-204)tcG>tcA	p.S68S	FOS_ENST00000555686.1_5'UTR|FOS_ENST00000555242.1_Silent_p.S68S|FOS_ENST00000554617.1_Silent_p.S68S|FOS_ENST00000535987.1_Silent_p.S68S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	68					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CTGCCATCTCGACCAGTCCGG	0.642													4	80					0	0	1	0	0	A	75746642	G	A	75746642	2	1	56	1	0	0	0	0	0	0	0	1	6018	1045	37	2		2	FOS	14	75746642	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		75746642	31602898	16	1036											
AHNAK2	113146	broad.mit.edu	37	14	105413382	105413382	+	Silent	SNP	G	G	A			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr14:105413382G>A	ENST00000333244.5	-	7	8525	c.8406C>T	c.(8404-8406)gcC>gcT	p.A2802A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2802						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTGTCGGCCAGGGACA	0.617													6	477					0	0	1	0	0	A	105413382	G	A	105413382	2	1	56	1	0	0	0	0	0	0	0	1	412	1103	39	2		2	AHNAK2	14	105413382	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	29666740	105413382	1936158	17	1037											
RYR3	6263	broad.mit.edu	37	15	34115225	34115225	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr15:34115225A>G	ENST00000389232.4	+	81	11094	c.11024A>G	c.(11023-11025)aAg>aGg	p.K3675R	RYR3_ENST00000415757.3_Missense_Mutation_p.K3670R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3675					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGAGAAAAAGGATGCTGGA	0.418													3	52					0	0	1	0	0	G	34115225	A	G	34115225	3	3	56	1	0	0	0	0	1	0	0	0	13822	72	3	4	11346	4	RYR3	15	34115225	Missense_Mutation	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		34115225	68416167	18	1038											
CD97	976	broad.mit.edu	37	19	14507920	14507920	+	Silent	SNP	G	G	A	rs148941728		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr19:14507920G>A	ENST00000242786.5	+	6	590	c.510G>A	c.(508-510)ccG>ccA	p.P170P	CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	170	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GACAAAACCCGTGCCACAGCT	0.627													4	108					0	0	1	0	0	A	14507920	G	A	14507920	2	1	56	1	0	0	0	0	0	0	0	1	3071	1132	40	1		1	CD97	19	14507920	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		14507920	44621063	19	1039											
GPCPD1	56261	broad.mit.edu	37	20	5559094	5559094	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:5559094G>T	ENST00000379019.4	-	8	849	c.637C>A	c.(637-639)Cgt>Agt	p.R213S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	213					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCTGTCCAACGATCAGGCTGC	0.443													4	75					0.000602214	0.000602214	1	1	0	T	5559094	G	T	5559094	3	4	56	1	0	0	0	0	1	0	0	0	6643	1058	37	5	1433	5	GPCPD1	20	5559094	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		5559094	57466426	20	1040											
WFDC9	259240	broad.mit.edu	37	20	44236772	44236772	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:44236772G>A	ENST00000326000.1	-	5	464	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	83						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				ATTGATTTAAGGGGCTCTCTA	0.423													4	185					0	0	1	0	0	A	44236772	G	A	44236772	3	1	56	1	0	0	0	0	1	0	0	0	17417	1000	35	3	26	3	WFDC9	20	44236772	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	38677678	44236772	18788748	21	1041											
PSMA7	5688	broad.mit.edu	37	20	60715937	60715937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:60715937G>A	ENST00000370873.4	-	2	286	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_5'UTR|PSMA7_ENST00000370858.3_Nonsense_Mutation_p.Q54*	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	54					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTTTCATCCTGCAGTTTGGCC	0.468													60	94					0	0	1	0	0	A	60715937	G	A	60715937	4	1	56	1	0	0	0	0	0	1	0	0	12721	1328	46	3	610	3	PSMA7	20	60715937	Nonsense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	16479165	60715937	2309583	22	1042											
RPRD2	23248	broad.mit.edu	37	1	150390085	150390085	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:150390085C>A	ENST00000401000.4	+	2	284	c.219C>A	c.(217-219)caC>caA	p.H73Q	RPRD2_ENST00000369068.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	73	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATATCCCCACCGTTTGAATC	0.353													44	152					4.10826e-27	4.45062e-27	1	1	0	A	150390085	C	A	150390085	3	1	57	1	0	0	0	0	1	0	0	0	13669	506	18	5	225	5	RPRD2	1	150390085	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		150390085	98860536	1	1043											
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512													7	916					0	0	1	0	0	G	152128186	A	G	152128186	2	3	57	1	0	0	0	0	0	0	0	1	13716	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-QT-A5XL-01A-11D-A35D-08	1738101	152128186	97122435	2	1044											
EPAS1	2034	broad.mit.edu	37	2	46607402	46607402	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr2:46607402C>T	ENST00000263734.3	+	12	2101	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587													108	83					0	0	1	0	0	T	46607402	C	T	46607402	3	4	57	1	0	0	0	0	1	0	0	0	5178	507	18	3	1637	3	EPAS1	2	46607402	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		46607402	196591971	3	1045											
NBEAL2	23218	broad.mit.edu	37	3	47043265	47043265	+	Silent	SNP	G	G	A	rs142878502	by1000genomes	TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:47043265G>A	ENST00000450053.3	+	30	4910	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A1393A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1577							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGAGATGGCGCAGATTGGCC	0.602													11	77					0	0	1	0	0	A	47043265	G	A	47043265	2	1	57	1	0	0	0	0	0	0	0	1	10237	1074	38	1		1	NBEAL2	3	47043265	Silent	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		47043265	150979165	4	1046											
ATP13A3	79572	broad.mit.edu	37	3	194154518	194154518	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:194154518C>T	ENST00000439040.1	-	21	3019	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	743					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATGACGGTGCGAATGTTGGC	0.348													5	119					0	0	1	0	0	T	194154518	C	T	194154518	3	4	57	1	0	0	0	0	1	0	0	0	1124	768	27	1	1504	1	ATP13A3	3	194154518	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08	147111253	194154518	3867912	5	1047											
PCDHA7	0	broad.mit.edu	37	5	140215201	140215201	+	Silent	SNP	C	C	T	rs145763112		TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr5:140215201C>T	ENST00000525929.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCTCTGGACC	0.597													5	133					0	0	1	0	0	T	140215201	C	T	140215201	2	4	57	1	0	0	0	0	0	0	0	1	11576	767	27	1		1	PCDHA7	5	140215201	Silent	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		140215201	40700059	6	1048											
RUNX1T1	862	broad.mit.edu	37	8	93003905	93003905	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr8:93003905G>A	ENST00000523629.1	-	7	1407	c.953C>T	c.(952-954)cCc>cTc	p.P318L	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	318					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTGTGGCTGGGGTGTCGATA	0.542													42	107					0	0	1	0	0	A	93003905	G	A	93003905	3	1	57	1	0	0	0	0	1	0	0	0	13799	1232	43	3	885	3	RUNX1T1	8	93003905	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		93003905	53360117	7	1049											
CHD3	1107	broad.mit.edu	37	17	7802767	7802767	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:7802767C>T	ENST00000380358.4	+	15	2628	c.2627C>T	c.(2626-2628)aCg>aTg	p.T876M	CHD3_ENST00000358181.4_Missense_Mutation_p.T817M|CHD3_ENST00000330494.7_Missense_Mutation_p.T817M	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGACATACACGGGTGACAAG	0.493													4	165					0	0	1	0	0	T	7802767	C	T	7802767	3	4	57	1	0	0	0	0	1	0	0	0	3348	536	19	1	2789	1	CHD3	17	7802767	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		7802767	73392443	8	1050											
CCT6B	10693	broad.mit.edu	37	17	33285700	33285700	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:33285700G>T	ENST00000314144.5	-	3	330	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q|CCT6B_ENST00000436961.3_Intron	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	72					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GGAAGCTGTTGGATGTTGAAT	0.388													3	59					0.014758	0.0153483	1	1	0	T	33285700	G	T	33285700	3	4	57	1	0	0	0	0	1	0	0	0	2980	1348	47	5	1425	5	CCT6B	17	33285700	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08	25482933	33285700	47909510	9	1051											
ATP4A	495	broad.mit.edu	37	19	36054315	36054315	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr19:36054315G>T	ENST00000262623.3	-	2	155	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	43					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGTTCTCCAGCTTCTCCTTC	0.642													4	162					0.150653	0.150653	1	1	0	T	36054315	G	T	36054315	3	4	57	1	0	0	0	0	1	0	0	0	1144	962	34	5	3064	5	ATP4A	19	36054315	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		36054315	23074668	10	1052											
FAM46D	169966	broad.mit.edu	37	X	79698960	79698960	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:79698960G>A	ENST00000538312.1	+	5	1256	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	308										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGTTGTGAATGAAAGCACTGT	0.388													4	70					0	0	1	0	0	A	79698960	G	A	79698960	3	1	57	1	0	0	0	0	1	0	0	0	5604	1291	45	3	924	3	FAM46D	23	79698960	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		79698960	75571600	11	1053											
DCAF12L1	139170	broad.mit.edu	37	X	125685938	125685938	+	Silent	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652													3	35					0	0	1	0	0	T	125685938	C	T	125685938	2	4	57	1	0	0	0	0	0	0	0	1	4288	755	27	1		1	DCAF12L1	23	125685938	Silent	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08	45986978	125685938	29584622	12	1054											
ESPN	83715	broad.mit.edu	37	1	6512081	6512081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:6512081delC	ENST00000377828.1	+	10	2418	c.2250delC	c.(2248-2250)atfs	p.I750fs	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	750					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGGCCCATCCCCGAGTGGA	0.672													2	4	---	---	---	---						-	6512081	C	-	6512081	7	5	58	1	0	1	0	1	0	0	0	0	5282	845	30	0	2288	0	ESPN	1	6512081	Frame_Shift_Del	DEL	C	TCGA-QT-A5XM-01A-11D-A35D-08		6512081	242738540	1	1055											
ECHDC2	55268	broad.mit.edu	37	1	53387326	53387326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:53387326delA	ENST00000371522.4	-	1	113	c.20delT	c.(19-21)ccfs	p.L8fs	ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	8					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCGCAGGAGGCACAGAAC	0.736													2	4	---	---	---	---						-	53387326	A	-	53387326	7	5	58	1	0	1	0	1	0	0	0	0	4920	304	11	0	801	0	ECHDC2	1	53387326	Frame_Shift_Del	DEL	A	TCGA-QT-A5XM-01A-11D-A35D-08	46875245	53387326	195863295	2	1056											
GIPC2	54810	broad.mit.edu	37	1	78546456	78546456	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:78546456G>A	ENST00000370759.3	+	2	531	c.338G>A	c.(337-339)gGa>gAa	p.G113E	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	113						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CATGTGAAAGGAATCGAAAAA	0.343													3	36					0	0	1	0	0	A	78546456	G	A	78546456	3	1	58	1	0	0	0	0	1	0	0	0	6435	1174	41	3	344	3	GIPC2	1	78546456	Missense_Mutation	SNP	G	TCGA-QT-A5XM-01A-11D-A35D-08	25159130	78546456	170704165	3	1057											
ANXA5	308	broad.mit.edu	37	4	122590847	122590847	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr4:122590847T>G	ENST00000296511.5	-	12	1098	c.813A>C	c.(811-813)agA>agC	p.R271S	ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S|ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	271					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAACCATGACTCTGATGAGGG	0.373													32	75					0	0	1	0	0	G	122590847	T	G	122590847	3	3	58	1	0	0	0	0	1	0	0	0	715	1548	54	5	157	5	ANXA5	4	122590847	Missense_Mutation	SNP	T	TCGA-QT-A5XM-01A-11D-A35D-08		122590847	68563429	4	1058											
VARS2	57176	broad.mit.edu	37	6	30893361	30893361	+	Silent	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr6:30893361C>T	ENST00000321897.5	+	27	3458	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000542001.1_Silent_p.F802F|VARS2_ENST00000541562.1_Silent_p.F972F			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	942					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCCTCTTCGAGGCCTTCT	0.667													13	33					0	0	1	0	0	T	30893361	C	T	30893361	2	4	58	1	0	0	0	0	0	0	0	1	17184	883	31	2		2	VARS2	6	30893361	Silent	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		30893361	140221706	5	1059											
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase.		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				39	109					0	0	1	0	0	C	43617416	T	C	43617416	3	2	58	1	0	0	0	0	1	0	0	0	13287	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-QT-A5XM-01A-11D-A35D-08		43617416	91917331	6	1060											
MKI67	4288	broad.mit.edu	37	10	129904639	129904639	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:129904639C>T	ENST00000368654.3	-	13	5840	c.5465G>A	c.(5464-5466)cGt>cAt	p.R1822H	MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1822	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTTCCTTACGAGTTTGTAG	0.473													7	161					0	0	1	0	0	T	129904639	C	T	129904639	3	4	58	1	0	0	0	0	1	0	0	0	9646	536	19	1	4317	1	MKI67	10	129904639	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08	86287223	129904639	5630108	7	1061											
DAZAP2	9802	broad.mit.edu	37	12	51636117	51636117	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr12:51636117C>T	ENST00000412716.3	+	4	998	c.382C>T	c.(382-384)Cca>Tca	p.P128S	DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S			Q15038	DAZP2_HUMAN	DAZ associated protein 2	128	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTTTCAGCCTCCACCTCCTGG	0.542													88	235					0	0	1	0	0	T	51636117	C	T	51636117	3	4	58	1	0	0	0	0	1	0	0	0	4269	855	30	3	396	3	DAZAP2	12	51636117	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		51636117	82215778	8	1062											
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													4	46					0	0	1	0	0	T	12842217	C	T	12842217	3	4	58	1	0	0	0	0	1	0	0	0	1938	652	23	2	174	2	C19orf43	19	12842217	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		12842217	46286766	9	1063											
EIF3L	51386	broad.mit.edu	37	22	38273774	38273774	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr22:38273774C>T	ENST00000412331.2	+	11	1753	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W|EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	391						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTCCAGCTGCGGGAGAAATA	0.512													22	27					0	0	1	0	0	T	38273774	C	T	38273774	3	4	58	1	0	0	0	0	1	0	0	0	5050	759	27	1	1213	1	EIF3L	22	38273774	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		38273774	13030792	10	1064											
H2BFWT	158983	broad.mit.edu	37	X	103267771	103267771	+	Silent	SNP	G	G	A	rs139759218		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chrX:103267771G>A	ENST00000217926.5	-	1	488	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	154					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CTTCGGACTCGGCGAGCTTGC	0.662													9	24					0	0	1	0	0	A	103267771	G	A	103267771	2	1	58	1	0	0	0	0	0	0	0	1	6973	1103	39	2		2	H2BFWT	23	103267771	Silent	SNP	G	TCGA-QT-A5XM-01A-11D-A35D-08		103267771	52002789	11	1065											
SLC26A9	115019	broad.mit.edu	37	1	205884502	205884502	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:205884502T>G	ENST00000367135.3	-	21	2472	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P|SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	787						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCGGTCAGGGTCTCTGCGTGA	0.592													34	95					0	0	1	0	0	G	205884502	T	G	205884502	3	3	59	1	0	0	0	0	1	0	0	0	14579	1667	58	5	316	5	SLC26A9	1	205884502	Missense_Mutation	SNP	T	TCGA-QT-A5XN-01A-11D-A35D-08		205884502	43366119	1	1066											
OBSCN	84033	broad.mit.edu	37	1	228547476	228547476	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:228547476G>A	ENST00000284548.11	+	81	18957	c.18883G>A	c.(18883-18885)Ggc>Agc	p.G6295S	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7118					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCAGAACCAGGCCAGAAGCC	0.706													13	8					0	0	1	0	0	A	228547476	G	A	228547476	3	1	59	1	0	0	0	0	1	0	0	0	10860	1000	35	3	19201	3	OBSCN	1	228547476	Missense_Mutation	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08	22662974	228547476	20703145	2	1067											
USP34	9736	broad.mit.edu	37	2	61486850	61486850	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:61486850A>G	ENST00000398571.2	-	44	5916	c.5840T>C	c.(5839-5841)tTa>tCa	p.L1947S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1947					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACCATTAAATATGTAAA	0.408													25	29					0	0	1	0	0	G	61486850	A	G	61486850	3	3	59	1	0	0	0	0	1	0	0	0	17125	372	13	4	4948	4	USP34	2	61486850	Missense_Mutation	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08		61486850	181712523	3	1068											
MERTK	10461	broad.mit.edu	37	2	112686863	112686863	+	Silent	SNP	A	A	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:112686863A>T	ENST00000295408.4	+	2	485	c.228A>T	c.(226-228)ggA>ggT	p.G76G	MERTK_ENST00000421804.2_Silent_p.G76G|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	76					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACATACAGGAAACGTAGCCA	0.507													18	16					0	0	1	0	0	T	112686863	A	T	112686863	2	4	59	1	0	0	0	0	0	0	0	1	9529	233	9	5		5	MERTK	2	112686863	Silent	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08	51200013	112686863	130512510	4	1069											
SCN5A	6331	broad.mit.edu	37	3	38639331	38639331	+	Silent	SNP	C	C	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr3:38639331C>T	ENST00000413689.1	-	14	2344	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P	SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000333535.4_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	717					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTCAGTAAACGGGTCCATGA	0.547													29	12					0	0	1	0	0	T	38639331	C	T	38639331	2	4	59	1	0	0	0	0	0	0	0	1	13976	523	19	1		1	SCN5A	3	38639331	Silent	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		38639331	159383099	5	1070											
MATR3	9782	broad.mit.edu	37	5	138651823	138651823	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr5:138651823C>T	ENST00000394800.2	+	9	1624	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	MATR3_ENST00000361059.2_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000394805.3_Missense_Mutation_p.P359S|MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S			P43243	MATR3_HUMAN	matrin 3	359						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTGGGACCTCCACCTCCCTC	0.413													26	69					0	0	1	0	0	T	138651823	C	T	138651823	3	4	59	1	0	0	0	0	1	0	0	0	9387	855	30	3	1089	3	MATR3	5	138651823	Missense_Mutation	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		138651823	42263437	6	1071											
KLHDC3	116138	broad.mit.edu	37	6	42987098	42987098	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr6:42987098A>G	ENST00000326974.4	+	10	1271	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G|KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	359					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGCCTCATGATATCAGGTAC	0.498													76	84					0	0	1	0	0	G	42987098	A	G	42987098	3	3	59	1	0	0	0	0	1	0	0	0	8400	333	12	4	1110	4	KLHDC3	6	42987098	Missense_Mutation	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08		42987098	128127969	7	1072											
REPIN1	29803	broad.mit.edu	37	7	150066802	150066802	+	Translation_Start_Site	SNP	T	T	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr7:150066802T>A	ENST00000479668.1	+	2	90	c.2T>A	c.(1-3)aTg>aAg	p.M1K	REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000397281.2_5'UTR|REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000540729.1_5'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000518514.1_Intron			Q9BWE0	REPI1_HUMAN	replication initiator 1	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTCTGCCATGGGGATAGGG	0.587													30	21					0	0	1	0	0	A	150066802	T	A	150066802	1	1	59	1	0	0	0	0	0	0	0	0	13279	1464	51	5		5	REPIN1	7	150066802	Translation_Start_Site	SNP	T	TCGA-QT-A5XN-01A-11D-A35D-08		150066802	9071861	8	1073											
MYOM2	9172	broad.mit.edu	37	8	2046698	2046698	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:2046698G>A	ENST00000262113.4	+	19	2466	c.2325G>A	c.(2323-2325)ttG>ttA	p.L775L	MYOM2_ENST00000523438.1_Silent_p.L200L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	775	Fibronectin type-III 4.				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)		TGGACGGCTTGACGGAAGGCT	0.507													16	24					0	0	1	0	0	A	2046698	G	A	2046698	2	1	59	1	0	0	0	0	0	0	0	1	10140	1281	45	3		3	MYOM2	8	2046698	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		2046698	144317324	9	1074											
NBN	4683	broad.mit.edu	37	8	90982714	90982714	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:90982714delT	ENST00000265433.3	-	7	928	c.774delA	c.(772-774)gafs	p.E259fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	259					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTATGTTCTTCTTCATTCT	0.378								Homologous recombination					27	83	---	---	---	---						-	90982714	T	-	90982714	7	5	59	1	0	1	0	1	0	0	0	0	10239	1606	56	0	1530	0	NBN	8	90982714	Frame_Shift_Del	DEL	T	TCGA-QT-A5XN-01A-11D-A35D-08	88936016	90982714	55381308	10	1075											
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587													6	520					0	0	1	0	0	A	105409427	G	A	105409427	2	1	59	1	0	0	0	0	0	0	0	1	412	991	35	3		3	AHNAK2	14	105409427	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		105409427	1940113	11	1076											
OTOP3	347741	broad.mit.edu	37	17	72937759	72937759	+	Silent	SNP	C	C	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:72937759C>T	ENST00000328801.4	+	2	345	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	115						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ACAAGGTGGCCGTCACTCTGG	0.602													22	35					0	0	1	0	0	T	72937759	C	T	72937759	2	4	59	1	0	0	0	0	0	0	0	1	11354	639	23	2		2	OTOP3	17	72937759	Silent	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		72937759	8257451	12	1077											
ZACN	353174	broad.mit.edu	37	17	74075788	74075788	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:74075788C>G	ENST00000334586.5	+	3	311	c.228C>G	c.(226-228)atC>atG	p.I76M	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	76					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCAGGACATCCTGCGATACA	0.582													4	45					0	0	1	0	0	G	74075788	C	G	74075788	3	3	59	1	0	0	0	0	1	0	0	0	17570	845	30	5	238	5	ZACN	17	74075788	Missense_Mutation	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08	1138029	74075788	7119422	13	1078											
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs34295949		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:14694175_14694176insGGA	ENST00000547437.1	+	2	127_128	c.50_51insGGA	c.(49-51)aga>aGGAga	p.17_17R>RR	CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	17						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													12	13	---	---	---	---						GGA	14694176	-	GGA	14694175	7	5	59	1	0	1	1	0	0	0	0	0	3524	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-QT-A5XN-01A-11D-A35D-08		14694175	44434808	14	1079											
NLRP4	147945	broad.mit.edu	37	19	56369263	56369263	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:56369263G>A	ENST00000301295.6	+	3	926	c.504G>A	c.(502-504)ctG>ctA	p.L168L	NLRP4_ENST00000346986.5_Silent_p.L168L|NLRP4_ENST00000587891.1_Silent_p.L93L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	168	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGATGAAGCTGATGATGGCCT	0.502													28	58					0	0	1	0	0	A	56369263	G	A	56369263	2	1	59	1	0	0	0	0	0	0	0	1	10526	1277	45	3		3	NLRP4	19	56369263	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08	41675088	56369263	2759720	15	1080											
UCKL1	54963	broad.mit.edu	37	20	62571398	62571398	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr20:62571398G>A	ENST00000369908.5	-	15	1832	c.1533C>T	c.(1531-1533)ggC>ggT	p.G511G	UCKL1_ENST00000354216.6_Silent_p.G526G|UCKL1_ENST00000369892.3_Silent_p.G526G|UCKL1_ENST00000358711.3_3'UTR	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	526					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTAGCGGTCGCCAAAGTTCC	0.682													3	27					0	0	1	0	0	A	62571398	G	A	62571398	2	1	59	1	0	0	0	0	0	0	0	1	16985	1074	38	1		1	UCKL1	20	62571398	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		62571398	454122	16	1081											
ESX1	80712	broad.mit.edu	37	X	103495314	103495314	+	Silent	SNP	G	G	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chrX:103495314G>T	ENST00000372588.4	-	4	899	c.816C>A	c.(814-816)ccC>ccA	p.P272P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	272	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CAGGCGCcatgggtggcatag	0.687													54	58					6.56871e-35	7.20439e-35	1	1	0	T	103495314	G	T	103495314	2	4	59	1	0	0	0	0	0	0	0	1	5291	1335	47	5		5	ESX1	23	103495314	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		103495314	51775246	17	1082											
SPEN	23013	broad.mit.edu	37	1	16261761	16261761	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:16261761C>G	ENST00000375759.3	+	11	9230	c.9026C>G	c.(9025-9027)gCa>gGa	p.A3009G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3009					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCCCAGCAGATCGAACT	0.617													9	31					0	0	1	0	0	G	16261761	C	G	16261761	3	3	60	1	0	0	0	0	1	0	0	0	15094	710	25	5	9068	5	SPEN	1	16261761	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		16261761	232988860	1	1083											
TM2D1	83941	broad.mit.edu	37	1	62190656	62190656	+	Missense_Mutation	SNP	A	A	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:62190656A>C	ENST00000371177.2	-	1	149	c.137T>G	c.(136-138)cTt>cGt	p.L46R	TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R|TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000606498.1_Missense_Mutation_p.L46R			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	46					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CTCGCACTTAAGCGACTCCTC	0.637													3	34					0	0	1	0	0	C	62190656	A	C	62190656	3	2	60	1	0	0	0	0	1	0	0	0	16023	72	3	5	510	5	TM2D1	1	62190656	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	45928895	62190656	187059965	2	1084											
HFM1	164045	broad.mit.edu	37	1	91866581	91866581	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:91866581T>C	ENST00000370425.3	-	2	157	c.59A>G	c.(58-60)gAt>gGt	p.D20G	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	20							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAACTTCATCTGGTTTTTC	0.299													4	9					0	0	1	0	0	C	91866581	T	C	91866581	3	2	60	1	0	0	0	0	1	0	0	0	7124	1435	50	4	4400	4	HFM1	1	91866581	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	29675925	91866581	157384040	3	1085											
OR10T2	128360	broad.mit.edu	37	1	158369200	158369200	+	Silent	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:158369200G>A	ENST00000334438.1	-	1	56	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCCCAGGCTGGAGAAACCCA	0.458													10	9					0	0	1	0	0	A	158369200	G	A	158369200	2	1	60	1	0	0	0	0	0	0	0	1	10967	1335	47	3		3	OR10T2	1	158369200	Silent	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	66502619	158369200	90881421	4	1086											
FMO3	2328	broad.mit.edu	37	1	171076862	171076862	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:171076862G>C	ENST00000367755.4	+	4	479	c.368G>C	c.(367-369)gGc>gCc	p.G123A	FMO3_ENST00000542847.1_Missense_Mutation_p.G103A|FMO3_ENST00000392085.2_Missense_Mutation_p.G123A|FMO3_ENST00000538429.1_Missense_Mutation_p.G60A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAACTACTGGCCAGTGGGAT	0.398													14	42					0	0	1	0	0	C	171076862	G	C	171076862	3	2	60	1	0	0	0	0	1	0	0	0	5989	1203	42	5	378	5	FMO3	1	171076862	Missense_Mutation	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	12707662	171076862	78173759	5	1087											
CACYBP	27101	broad.mit.edu	37	1	174977818	174977818	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:174977818T>C	ENST00000367681.2	+	5	1017	c.377T>C	c.(376-378)gTt>gCt	p.V126A	CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367679.2_Missense_Mutation_p.V169A	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	169	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CTGACCCAGGTTGAAAAGGAG	0.333													10	29					0	0	1	0	0	C	174977818	T	C	174977818	3	2	60	1	0	0	0	0	1	0	0	0	2582	1725	60	4	524	4	CACYBP	1	174977818	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	3900956	174977818	74272803	6	1088											
KCTD3	51133	broad.mit.edu	37	1	215792612	215792612	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:215792612A>G	ENST00000259154.4	+	17	2159	c.1865A>G	c.(1864-1866)cAc>cGc	p.H622R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	622						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGCATAGCCACTTACGAGAA	0.363													14	75					0	0	1	0	0	G	215792612	A	G	215792612	3	3	60	1	0	0	0	0	1	0	0	0	8154	159	6	4	1931	4	KCTD3	1	215792612	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	40814794	215792612	33458009	7	1089											
EGLN1	54583	broad.mit.edu	37	1	231556829	231556829	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:231556829A>G	ENST00000366641.3	-	1	3961	c.806T>C	c.(805-807)aTt>aCt	p.I269T		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	269					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GAGCAGCCCAATGGTTTCGCA	0.577													9	45					0	0	1	0	0	G	231556829	A	G	231556829	3	3	60	1	0	0	0	0	1	0	0	0	4994	101	4	4	494	4	EGLN1	1	231556829	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	15764217	231556829	17693792	8	1090											
WDR64	128025	broad.mit.edu	37	1	241886684	241886684	+	Silent	SNP	C	C	T	rs142859030	by1000genomes	TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:241886684C>T	ENST00000366552.2	+	9	1317	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	WDR64_ENST00000437684.2_Silent_p.A370A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	370										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCAGTATCGCCGAGATCGTAA	0.418													4	24					0	0	1	0	0	T	241886684	C	T	241886684	2	4	60	1	0	0	0	0	0	0	0	1	17375	639	23	2		2	WDR64	1	241886684	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	10329855	241886684	7363937	9	1091											
YWHAQ	10971	broad.mit.edu	37	2	9728380	9728380	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:9728380T>C	ENST00000381844.4	-	3	659	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	166					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCCAGGCGGATTGGGTGTGTG	0.423													4	53					0	0	1	0	0	C	9728380	T	C	9728380	3	2	60	1	0	0	0	0	1	0	0	0	17565	1493	52	4	253	4	YWHAQ	2	9728380	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08		9728380	233470993	10	1092											
MBD5	0	broad.mit.edu	37	2	149227977	149227977	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:149227977C>G	ENST00000407073.1	+	9	3462	c.2465C>G	c.(2464-2466)cCa>cGa	p.P822R	MBD5_ENST00000404807.1_Missense_Mutation_p.P822R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	822						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCTCCACTCCAGTGATACCA	0.423													16	31					0	0	1	0	0	G	149227977	C	G	149227977	3	3	60	1	0	0	0	0	1	0	0	0	9397	594	21	5	2479	5	MBD5	2	149227977	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	139499597	149227977	93971396	11	1093											
SH3BP4	23677	broad.mit.edu	37	2	235950986	235950986	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:235950986G>A	ENST00000409212.1	+	4	2080	c.1573G>A	c.(1573-1575)Ggg>Agg	p.G525R	SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	525					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCAGCTGTGGGGGAAGCACCA	0.572													8	42					0	0	1	0	0	A	235950986	G	A	235950986	3	1	60	1	0	0	0	0	1	0	0	0	14300	1232	43	3	1579	3	SH3BP4	2	235950986	Missense_Mutation	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	86723009	235950986	7248387	12	1094											
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	548					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756													3	10					0	0	1	0	0	T	112824054	C	T	112824054	3	4	60	1	0	0	0	0	1	0	0	0	9423	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		112824054	68091206	13	1095											
ADAM2	2515	broad.mit.edu	37	8	39613293	39613293	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr8:39613293C>A	ENST00000265708.4	-	16	1854	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	584	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTTTTGGCTGTCTGCATG	0.348													9	66					0.0477658	0.0477658	1	1	0	A	39613293	C	A	39613293	3	1	60	1	0	0	0	0	1	0	0	0	240	797	28	5	476	5	ADAM2	8	39613293	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		39613293	106750729	14	1096											
IRF7	3665	broad.mit.edu	37	11	613833	613833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:613833delC	ENST00000397566.1	-	6	1247	c.838delG	c.(838-840)cafs	p.A280fs	IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs|IRF7_ENST00000397574.2_Frame_Shift_Del_p.A267fs	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	267					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACGGCTCTGCCTGGTGCGGG	0.697													2	4	---	---	---	---						-	613833	C	-	613833	7	5	60	1	0	1	0	1	0	0	0	0	7879	739	26	0	728	0	IRF7	11	613833	Frame_Shift_Del	DEL	C	TCGA-QT-A5XO-01A-11D-A35D-08		613833	134392683	15	1097											
PGR	5241	broad.mit.edu	37	11	100912716	100912716	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:100912716C>T	ENST00000325455.5	-	7	4059	c.2606G>A	c.(2605-2607)cGt>cAt	p.R869H	PGR_ENST00000263463.5_Missense_Mutation_p.R767H|PGR_ENST00000534013.1_Missense_Mutation_p.R275H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	869	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTGATAGAAACGCTGTGAGCT	0.368													9	15					0	0	1	0	0	T	100912716	C	T	100912716	3	4	60	1	0	0	0	0	1	0	0	0	11853	536	19	1	203	1	PGR	11	100912716	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	100298883	100912716	34093800	16	1098											
PDE1B	0	broad.mit.edu	37	12	54966508	54966508	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr12:54966508C>T	ENST00000243052.3	+	7	1154	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	240	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTGCTTCTTGCTCCGCACAGG	0.517													6	150					0	0	1	0	0	T	54966508	C	T	54966508	3	4	60	1	0	0	0	0	1	0	0	0	11681	797	28	3	797	3	PDE1B	12	54966508	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		54966508	78885387	17	1099											
SACS	26278	broad.mit.edu	37	13	23906391	23906391	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr13:23906391C>A	ENST00000382298.3	-	10	12212	c.11624G>T	c.(11623-11625)cGt>cTt	p.R3875L	SACS_ENST00000382292.3_Missense_Mutation_p.R3875L|SACS_ENST00000402364.1_Missense_Mutation_p.R3125L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3875					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTAACTGTACGCATTTCATT	0.383													21	107					3.62473e-10	3.98721e-10	1	1	0	A	23906391	C	A	23906391	3	1	60	1	0	0	0	0	1	0	0	0	13856	536	19	5	2119	5	SACS	13	23906391	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		23906391	91263487	18	1100											
ALKBH1	8846	broad.mit.edu	37	14	78174291	78174291	+	Silent	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:78174291C>T	ENST00000216489.3	-	1	72	c.57G>A	c.(55-57)ggG>ggA	p.G19G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	19					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGGCGTCCTCCCCGGGCTCAG	0.652													6	42					0	0	1	0	0	T	78174291	C	T	78174291	2	4	60	1	0	0	0	0	0	0	0	1	522	610	22	3		3	ALKBH1	14	78174291	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		78174291	29175249	19	1101											
HSP90AA1	3320	broad.mit.edu	37	14	102552237	102552237	+	Silent	SNP	A	A	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:102552237A>T	ENST00000334701.7	-	4	1034	c.753T>A	c.(751-753)tcT>tcA	p.S251S	HSP90AA1_ENST00000216281.8_Silent_p.S129S|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	129					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GGCCAATCATAGAGATATCTG	0.448													39	50					0	0	1	0	0	T	102552237	A	T	102552237	2	4	60	1	0	0	0	0	0	0	0	1	7444	407	15	5		5	HSP90AA1	14	102552237	Silent	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	24377946	102552237	4797303	20	1102											
FLII	2314	broad.mit.edu	37	17	18150576	18150576	+	Silent	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:18150576C>G	ENST00000327031.4	-	21	2808	c.2583G>C	c.(2581-2583)ggG>ggC	p.G861G	FLII_ENST00000545457.2_Silent_p.G806G|FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	861					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTTTCACCTTCCCGGAGAGAC	0.622													12	30					0	0	1	0	0	G	18150576	C	G	18150576	2	3	60	1	0	0	0	0	0	0	0	1	5958	842	30	5		5	FLII	17	18150576	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		18150576	63044634	21	1103											
ANKFN1	162282	broad.mit.edu	37	17	54452061	54452061	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:54452061T>C	ENST00000566473.2	+	7	905	c.905T>C	c.(904-906)gTa>gCa	p.V302A	ANKFN1_ENST00000318698.2_Missense_Mutation_p.V302A			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	302	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCAGCTGTAGTAACCAGGTAT	0.448													19	46					0	0	1	0	0	C	54452061	T	C	54452061	3	2	60	1	0	0	0	0	1	0	0	0	621	1638	57	4	931	4	ANKFN1	17	54452061	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	36301485	54452061	26743149	22	1104											
MUC16	94025	broad.mit.edu	37	19	9087339	9087339	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:9087339C>T	ENST00000397910.4	-	1	4679	c.4476G>A	c.(4474-4476)atG>atA	p.M1492I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1492	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTGTGGACATAGGTGGAA	0.423													50	65					0	0	1	0	0	T	9087339	C	T	9087339	3	4	60	1	0	0	0	0	1	0	0	0	10021	478	17	3	39383	3	MUC16	19	9087339	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		9087339	50041644	23	1105											
CYP2A7	1549	broad.mit.edu	37	19	41387998	41387998	+	Silent	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:41387998G>A	ENST00000301146.4	-	1	659	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	40						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGAAGGGCAGTGGGGTGGGT	0.587													3	41					0	0	1	0	0	A	41387998	G	A	41387998	2	1	60	1	0	0	0	0	0	0	0	1	4186	1020	36	3		3	CYP2A7	19	41387998	Silent	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	32300659	41387998	17740985	24	1106											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													5	84					0	0	1	0	0	C	11058353	T	C	11058353	1	2	60	0	1	0	0	0	0	0	0	0	1290	1769	61	4		4	BAGE2	21	11058353	RNA	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08		11058353	37071542	25	1107											
FRMPD4	9758	broad.mit.edu	37	X	12735860	12735860	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chrX:12735860C>G	ENST00000380682.1	+	16	3421	c.2915C>G	c.(2914-2916)gCt>gGt	p.A972G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	972					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CACGCCCTGGCTGCTAGGCCA	0.597													5	78					0	0	1	0	0	G	12735860	C	G	12735860	3	3	60	1	0	0	0	0	1	0	0	0	6094	797	28	5	2977	5	FRMPD4	23	12735860	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		12735860	142534700	26	1108											
UBA7	7318	broad.mit.edu	37	3	49848257	49848257	+	Silent	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr3:49848257G>A	ENST00000333486.3	-	11	1397	c.1239C>T	c.(1237-1239)agC>agT	p.S413S		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	413	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATCATAGCGGCTGCCTCTCT	0.557													3	45					0	0	1	0	0	A	49848257	G	A	49848257	2	1	61	1	0	0	0	0	0	0	0	1	16894	1194	42	3		3	UBA7	3	49848257	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		49848257	148174173	1	1109											
ARHGAP10	79658	broad.mit.edu	37	4	148787930	148787930	+	Missense_Mutation	SNP	A	A	G	rs145720035		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr4:148787930A>G	ENST00000336498.3	+	7	904	c.665A>G	c.(664-666)aAt>aGt	p.N222S		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	222	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAAGACTTCAATCACTACAAA	0.343											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	1	0	0	G	148787930	A	G	148787930	3	3	61	1	0	0	0	0	1	0	0	0	859	101	4	4	691	4	ARHGAP10	4	148787930	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		148787930	42366346	2	1110											
TRIO	7204	broad.mit.edu	37	5	14287075	14287075	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr5:14287075C>G	ENST00000344204.4	+	4	467	c.443C>G	c.(442-444)tCc>tGc	p.S148C	TRIO_ENST00000537187.1_Missense_Mutation_p.S148C|TRIO_ENST00000509967.2_Missense_Mutation_p.S99C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	148	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGCAGGAGTCCTTCCCCTGC	0.522													20	46					0	0	1	0	0	G	14287075	C	G	14287075	3	3	61	1	0	0	0	0	1	0	0	0	16613	855	30	5	457	5	TRIO	5	14287075	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		14287075	166628185	3	1111											
PLEKHG1	57480	broad.mit.edu	37	6	151161960	151161960	+	Silent	SNP	T	T	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr6:151161960T>A	ENST00000367328.1	+	17	4398	c.4086T>A	c.(4084-4086)tcT>tcA	p.S1362S	PLEKHG1_ENST00000358517.2_Silent_p.S1362S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1362					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGGGCCATCTCCCAATCAAC	0.393													24	53					0	0	1	0	0	A	151161960	T	A	151161960	2	1	61	1	0	0	0	0	0	0	0	1	12116	1538	54	5		5	PLEKHG1	6	151161960	Silent	SNP	T	TCGA-QT-A5XP-01A-11D-A35D-08		151161960	19953107	4	1112											
MATN2	4147	broad.mit.edu	37	8	98943421	98943421	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr8:98943421G>A	ENST00000254898.5	+	3	614	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R128Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAGAGGATGCGGCATCTGTCC	0.587													3	22					0	0	1	0	0	A	98943421	G	A	98943421	3	1	61	1	0	0	0	0	1	0	0	0	9384	1116	39	2	389	2	MATN2	8	98943421	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		98943421	47420601	5	1113											
TJP2	9414	broad.mit.edu	37	9	71836075	71836075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr9:71836075delG	ENST00000377245.4	+	5	823	c.615delG	c.(613-615)ctfs	p.L205fs	TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs|TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs|TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	205					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCGGGGCCTGGACCAAGACC	0.756													2	4	---	---	---	---						-	71836075	G	-	71836075	7	5	61	1	0	1	0	1	0	0	0	0	15990	1335	47	0	790	0	TJP2	9	71836075	Frame_Shift_Del	DEL	G	TCGA-QT-A5XP-01A-11D-A35D-08		71836075	69377356	6	1114											
ATM	472	broad.mit.edu	37	11	108173735	108173735	+	Silent	SNP	A	A	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr11:108173735A>G	ENST00000278616.4	+	36	5860	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	ATM_ENST00000452508.2_Silent_p.Q1825Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1825					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAATTCTTCAATTATTAAAGC	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	60					0	0	1	0	0	G	108173735	A	G	108173735	2	3	61	1	0	0	0	0	0	0	0	1	1108	98	4	4		4	ATM	11	108173735	Silent	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		108173735	26832781	7	1115											
TPI1	7167	broad.mit.edu	37	12	6976729	6976729	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr12:6976729C>T	ENST00000229270.4	+	1	447	c.110C>T	c.(109-111)gCc>gTc	p.A37V	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGCTCCAGCGCCATGGCGCCC	0.642													4	9					0	0	1	0	0	T	6976729	C	T	6976729	3	4	61	1	0	0	0	0	1	0	0	0	16464	739	26	3	112	3	TPI1	12	6976729	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		6976729	126875166	8	1116											
ATP12A	479	broad.mit.edu	37	13	25268673	25268673	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:25268673G>A	ENST00000218548.6	+	11	1820	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ATP12A_ENST00000381946.3_Missense_Mutation_p.R490H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	490					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R490H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAAAGAAACCGCAAAGTAGCT	0.393											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72					0	0	1	0	0	A	25268673	G	A	25268673	3	1	61	1	0	0	0	0	1	0	0	0	1121	1087	38	1	1529	1	ATP12A	13	25268673	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		25268673	89901205	9	1117											
PAN3	255967	broad.mit.edu	37	13	28854620	28854620	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:28854620A>T	ENST00000399613.1	+	15	1724	c.1661A>T	c.(1660-1662)tAt>tTt	p.Y554F	PAN3_ENST00000380958.3_Missense_Mutation_p.Y754F|PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	754	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTCGATTTTATACTCAATTG	0.343													4	84					0	0	1	0	0	T	28854620	A	T	28854620	3	4	61	1	0	0	0	0	1	0	0	0	11462	449	16	5	2323	5	PAN3	13	28854620	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08	3585947	28854620	86315258	10	1118											
POSTN	10631	broad.mit.edu	37	13	38160280	38160280	+	Silent	SNP	G	G	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:38160280G>T	ENST00000379747.4	-	7	1008	c.891C>A	c.(889-891)tcC>tcA	p.S297S	POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S|POSTN_ENST00000379742.4_Silent_p.S297S|POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	297	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AACTACCTTCGGAAGCCACTT	0.423													5	84					0.217242	0.229311	1	1	0	T	38160280	G	T	38160280	2	4	61	1	0	0	0	0	0	0	0	1	12307	1103	39	5		5	POSTN	13	38160280	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08	9305660	38160280	77009598	11	1119											
RCBTB2	1102	broad.mit.edu	37	13	49076986	49076986	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:49076986C>T	ENST00000344532.3	-	11	1414	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	331							Ran guanyl-nucleotide exchange factor activity	p.V331M(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACATGTACACGTGCCCACCC	0.582													4	43					0	0	1	0	0	T	49076986	C	T	49076986	3	4	61	1	0	0	0	0	1	0	0	0	13224	536	19	1	684	1	RCBTB2	13	49076986	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08	10916706	49076986	66092892	12	1120											
CCDC70	83446	broad.mit.edu	37	13	52440136	52440136	+	Missense_Mutation	SNP	G	G	A	rs78877659	by1000genomes	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:52440136G>A	ENST00000242819.4	+	2	918	c.622G>A	c.(622-624)Gga>Aga	p.G208R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	208						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCACATTGCCGGAGAGCAGAT	0.607													3	31					0	0	1	0	0	A	52440136	G	A	52440136	3	1	61	1	0	0	0	0	1	0	0	0	2863	1117	39	2	624	2	CCDC70	13	52440136	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08	3363150	52440136	62729742	13	1121											
OR4K2	390431	broad.mit.edu	37	14	20345163	20345163	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr14:20345163T>C	ENST00000298642.2	+	1	773	c.737T>C	c.(736-738)gTt>gCt	p.V246A		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTCATTGTTGTCTTCTTG	0.383													5	112					0	0	1	0	0	C	20345163	T	C	20345163	3	2	61	1	0	0	0	0	1	0	0	0	11120	1725	60	4	739	4	OR4K2	14	20345163	Missense_Mutation	SNP	T	TCGA-QT-A5XP-01A-11D-A35D-08		20345163	87004377	14	1122											
DENND4A	10260	broad.mit.edu	37	15	65956953	65956953	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:65956953G>A	ENST00000443035.3	-	31	5679	c.5464C>T	c.(5464-5466)Cca>Tca	p.P1822S	DENND4A_ENST00000431932.2_Missense_Mutation_p.P1779S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGACTCATTGGTCCATAGACA	0.333													10	22					0	0	1	0	0	A	65956953	G	A	65956953	3	1	61	1	0	0	0	0	1	0	0	0	4461	1261	44	3	268	3	DENND4A	15	65956953	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		65956953	36574439	15	1123											
ZFHX3	463	broad.mit.edu	37	16	72828227	72828227	+	Missense_Mutation	SNP	A	A	C			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr16:72828227A>C	ENST00000268489.5	-	9	9026	c.8354T>G	c.(8353-8355)cTc>cGc	p.L2785R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2785					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACAGGTGAGAGGGGGACACC	0.488													12	36					0	0	1	0	0	C	72828227	A	C	72828227	3	2	61	1	0	0	0	0	1	0	0	0	17692	304	11	5	2765	5	ZFHX3	16	72828227	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		72828227	17526526	16	1124											
CA10	56934	broad.mit.edu	37	17	50212251	50212251	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr17:50212251C>T	ENST00000340813.6	-	2	496	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CA10_ENST00000285273.4_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ttctccctcacccccaccata	0.562													4	47					0	0	1	0	0	T	50212251	C	T	50212251	3	4	61	1	0	0	0	0	1	0	0	0	2529	522	18	3		3	CA10	17	50212251	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		50212251	30982959	17	1125											
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													3	43					0	0	1	0	0	A	33486990	G	A	33486990	2	1	61	1	0	0	0	0	0	0	0	1	13401	1140	40	1		1	RHPN2	19	33486990	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		33486990	25641993	18	1126											
ZNF613	79898	broad.mit.edu	37	19	52447915	52447915	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:52447915A>G	ENST00000293471.6	+	6	1458	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAGAAACCCTATGAATGCACT	0.453													4	62					0	0	1	0	0	G	52447915	A	G	52447915	3	3	61	1	0	0	0	0	1	0	0	0	18095	449	16	4	793	4	ZNF613	19	52447915	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08	18960925	52447915	6681068	19	1127											
MC3R	4159	broad.mit.edu	37	20	54824371	54824371	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr20:54824371G>A	ENST00000243911.2	+	1	584	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	195					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCATGACCGTGAGGAAGGC	0.587													4	80					0	0	1	0	0	A	54824371	G	A	54824371	3	1	61	1	0	0	0	0	1	0	0	0	9415	1145	40	1	474	1	MC3R	20	54824371	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		54824371	8201149	20	1128											
RGL4	266747	broad.mit.edu	37	22	24034583	24034583	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr22:24034583C>A	ENST00000290691.5	+	2	1411	c.241C>A	c.(241-243)Ccg>Acg	p.P81T	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	81					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTATCAGCCCCCGCAACGGTC	0.547													5	88					0.014758	0.0164942	1	1	0	A	24034583	C	A	24034583	3	1	61	1	0	0	0	0	1	0	0	0	13331	623	22	5	247	5	RGL4	22	24034583	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		24034583	27269983	21	1129											
PIM2	11040	broad.mit.edu	37	X	48776050	48776050	+	Splice_Site	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:48776050C>T	ENST00000376509.4	-	1	251		c.e1+1			NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene						anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GATGTACTCACCTGGCGGCGG	0.697													3	18					0	0	1	0	0	T	48776050	C	T	48776050	5	4	61	1	0	0	0	0	0	0	1	0	11976	521	18	3	897	3	PIM2	23	48776050	Splice_Site	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		48776050	106494510	22	1130											
CUL4B	8450	broad.mit.edu	37	X	119672576	119672576	+	Silent	SNP	C	C	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:119672576C>A	ENST00000371322.5	-	13	1852	c.1791G>T	c.(1789-1791)ctG>ctT	p.L597L	CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000404115.3_Silent_p.L615L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	615					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCCGACTAACAGGCGCTTGG	0.348													16	114					1.67942e-08	2.05864e-08	1	1	0	A	119672576	C	A	119672576	2	1	61	1	0	0	0	0	0	0	0	1	4081	465	17	5		5	CUL4B	23	119672576	Silent	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08	70896526	119672576	35597984	23	1131											
CDC42BPA	8476	broad.mit.edu	37	1	227387293	227387293	+	Missense_Mutation	SNP	T	T	C	rs146827361	byFrequency	TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr1:227387293T>C	ENST00000366769.3	-	4	1706	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	139	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGTGCAAGGTTGTAATCCAT	0.289													5	17					0	0	1	0	0	C	227387293	T	C	227387293	3	2	62	1	0	0	0	0	1	0	0	0	3094	1725	60	4	4876	4	CDC42BPA	1	227387293	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08		227387293	21863328	1	1132											
SETD2	29072	broad.mit.edu	37	3	47161862	47161862	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr3:47161862G>C	ENST00000409792.3	-	3	4306	c.4264C>G	c.(4264-4266)Cag>Gag	p.Q1422E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCTGTCCTGAAGCTCACCA	0.438			"N, F, S, Mis"		clear cell renal carcinoma								5	65					0	0	1	0	0	C	47161862	G	C	47161862	3	2	62	1	0	0	0	0	1	0	0	0	14185	1299	45	5	3506	5	SETD2	3	47161862	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		47161862	150860568	2	1133											
EXOC2	55770	broad.mit.edu	37	6	598916	598916	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:598916T>C	ENST00000230449.4	-	9	1049	c.914A>G	c.(913-915)gAt>gGt	p.D305G	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	305					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTTCATAATCATTAATAAC	0.289													21	105					0	0	1	0	0	C	598916	T	C	598916	3	2	62	1	0	0	0	0	1	0	0	0	5329	1435	50	4	1940	4	EXOC2	6	598916	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08		598916	170516151	3	1134											
F13A1	2162	broad.mit.edu	37	6	6318876	6318876	+	Missense_Mutation	SNP	C	C	T	rs138865075		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:6318876C>T	ENST00000264870.3	-	2	287	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	8					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCTCCAAAGGCGGTCCTGGAA	0.468													17	130					0	0	1	0	0	T	6318876	C	T	6318876	3	4	62	1	0	0	0	0	1	0	0	0	5368	768	27	1	2232	1	F13A1	6	6318876	Missense_Mutation	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08	5719960	6318876	164796191	4	1135											
EEF1A1	1915	broad.mit.edu	37	6	74229620	74229620	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:74229620T>C	ENST00000316292.9	-	1	1121	c.130A>G	c.(130-132)Aag>Gag	p.K44E	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	44						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAGCCTCCTTCTCAAATTTT	0.423													4	132					0	0	1	0	0	C	74229620	T	C	74229620	3	2	62	1	0	0	0	0	1	0	0	0	4949	1792	62	4	1286	4	EEF1A1	6	74229620	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08	67910744	74229620	96885447	5	1136											
TIAM2	26230	broad.mit.edu	37	6	155569142	155569142	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:155569142G>C	ENST00000461783.3	+	22	4934	c.3661G>C	c.(3661-3663)Gac>Cac	p.D1221H	TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1221	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTAAAACTGACAAAGCCTT	0.448											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	109					0	0	1	0	0	C	155569142	G	C	155569142	3	2	62	1	0	0	0	0	1	0	0	0	15951	1290	45	5	3727	5	TIAM2	6	155569142	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08	81339522	155569142	15545925	6	1137											
ASTN2	23245	broad.mit.edu	37	9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr9:119739005G>A	ENST00000313400.4	-	8	1751	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C			O75129	ASTN2_HUMAN	astrotactin 2	551						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCACTGCGCACACACAGG	0.507													5	43					0	0	1	0	0	A	119739005	G	A	119739005	3	1	62	1	0	0	0	0	1	0	0	0	1064	1087	38	1	2664	1	ASTN2	9	119739005	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		119739005	21474426	7	1138											
C10orf90	118611	broad.mit.edu	37	10	128153427	128153427	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr10:128153427C>T	ENST00000284694.7	-	4	1492	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	458										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGACAGTCATCGCTTGGAGAG	0.488													4	75					0	0	1	0	0	T	128153427	C	T	128153427	3	4	62	1	0	0	0	0	1	0	0	0	1627	884	31	2	751	2	C10orf90	10	128153427	Missense_Mutation	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08		128153427	7381320	8	1139											
CDHR5	53841	broad.mit.edu	37	11	618714	618714	+	Silent	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:618714G>A	ENST00000358353.3	-	14	2167	c.1845C>T	c.(1843-1845)ccC>ccT	p.P615P	CDHR5_ENST00000397542.2_Silent_p.P615P|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	615	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACCGGGGGGCATCG	0.662													9	113					0	0	1	0	0	A	618714	G	A	618714	2	1	62	1	0	0	0	0	0	0	0	1	3144	1103	39	2		2	CDHR5	11	618714	Silent	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		618714	134387802	9	1140											
AHNAK	79026	broad.mit.edu	37	11	62287729	62287729	+	Silent	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:62287729C>T	ENST00000378024.4	-	5	14434	c.14160G>A	c.(14158-14160)aaG>aaA	p.K4720K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4720					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGGAGATCTTGGGGGCTT	0.488													35	222					0	0	1	0	0	T	62287729	C	T	62287729	2	4	62	1	0	0	0	0	0	0	0	1	411	912	32	3		3	AHNAK	11	62287729	Silent	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08	61669015	62287729	72718787	10	1141											
NID2	22795	broad.mit.edu	37	14	52505584	52505584	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr14:52505584G>A	ENST00000216286.5	-	9	2137	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	NID2_ENST00000541773.1_Missense_Mutation_p.P660L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	713	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGGTGTCTGGGGGCGTGCCT	0.517													6	47					0	0	1	0	0	A	52505584	G	A	52505584	3	1	62	1	0	0	0	0	1	0	0	0	10462	1232	43	3	2045	3	NID2	14	52505584	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		52505584	54843956	11	1142											
SETD1A	9739	broad.mit.edu	37	16	30983037	30983037	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:30983037G>T	ENST00000262519.8	+	13	4041	c.3355G>T	c.(3355-3357)Gca>Tca	p.A1119S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1119	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCAAGGCCTGCAGGTAGGTG	0.577													3	17					0.00024832	0.00024832	1	1	0	T	30983037	G	T	30983037	3	4	62	1	0	0	0	0	1	0	0	0	14184	1319	46	5	3401	5	SETD1A	16	30983037	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		30983037	59371716	12	1143											
MTSS1L	92154	broad.mit.edu	37	16	70697852	70697852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:70697852delC	ENST00000338779.6	-	15	2246	c.1972delG	c.(1972-1974)cafs	p.A658fs	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	658					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGGCCCCTGCCCCGGGGTAC	0.726													2	4	---	---	---	---						-	70697852	C	-	70697852	7	5	62	1	0	1	0	1	0	0	0	0	10011	739	26	0	275	0	MTSS1L	16	70697852	Frame_Shift_Del	DEL	C	TCGA-QT-A69Q-01A-11D-A35D-08	39714815	70697852	19656901	13	1144											
NUMBL	9253	broad.mit.edu	37	19	41186839	41186839	+	Silent	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr19:41186839G>A	ENST00000252891.4	-	6	690	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	NUMBL_ENST00000540131.1_Silent_p.L134L|NUMBL_ENST00000598779.1_Silent_p.L134L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	175	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTCAGTGCCAGAAAACAGTGG	0.572													6	74					0	0	1	0	0	A	41186839	G	A	41186839	2	1	62	1	0	0	0	0	0	0	0	1	10800	933	33	3		3	NUMBL	19	41186839	Silent	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		41186839	17942144	14	1145											
SPRY3	10251	broad.mit.edu	37	X	155004226	155004226	+	Silent	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chrX:155004226C>T	ENST00000302805.2	+	2	1124	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	231	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.F231F(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTCCCTCTTCCTACCCTGCC	0.597													4	123					0	0	1	0	0	T	155004226	C	T	155004226	2	4	62	1	0	0	0	0	0	0	0	1	15163	854	30	3		3	SPRY3	23	155004226	Silent	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08		155004226	266334	15	1146											
PARP1	142	broad.mit.edu	37	1	226570832	226570832	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr1:226570832C>T	ENST00000366794.5	-	8	1207	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	355					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGGAATATACGGTCCTGTTT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	266					0	0	1	0	0	T	226570832	C	T	226570832	3	4	63	1	0	0	0	0	1	0	0	0	11501	536	19	1	2044	1	PARP1	1	226570832	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		226570832	22679789	1	1147											
EPAS1	2034	broad.mit.edu	37	2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592													42	76					0	0	1	0	0	T	46607403	C	T	46607403	3	4	63	1	0	0	0	0	1	0	0	0	5178	623	22	3	1638	3	EPAS1	2	46607403	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		46607403	196591970	2	1148											
CD200R1L	344807	broad.mit.edu	37	3	112546338	112546338	+	Silent	SNP	A	A	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546338A>G	ENST00000488794.1	-	5	832	c.243T>C	c.(241-243)tcT>tcC	p.S81S	CD200R1L_ENST00000398214.1_Silent_p.S102S|CD200R1L_ENST00000448932.1_Silent_p.S81S			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	102	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATCAGGTCTAGAGACCCAGG	0.468													4	126					0	0	1	0	0	G	112546338	A	G	112546338	2	3	63	1	0	0	0	0	0	0	0	1	3004	407	15	4		4	CD200R1L	3	112546338	Silent	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08		112546338	85476092	3	1149			1	1		2	2	23	A		1.137063e-05
CD200R1L	344807	broad.mit.edu	37	3	112546360	112546360	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546360A>T	ENST00000488794.1	-	5	810	c.221T>A	c.(220-222)gTt>gAt	p.V74D	CD200R1L_ENST00000398214.1_Missense_Mutation_p.V95D|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	95	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TATTCTCTCAACAGTACAGTT	0.448													4	121					0	0	1	0	0	T	112546360	A	T	112546360	3	4	63	1	0	0	0	0	1	0	0	0	3004	43	2	5	547	5	CD200R1L	3	112546360	Missense_Mutation	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08	22	112546360	85476070	4	1150			1	1		2	2	23	A		1.137063e-05
PPP2R2C	5522	broad.mit.edu	37	4	6380190	6380190	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:6380190T>C	ENST00000335585.5	-	3	301	c.278A>G	c.(277-279)aAc>aGc	p.N93S	PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N93S|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	93					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGATCTTGTTGATCTTCTC	0.602													4	59					0	0	1	0	0	C	6380190	T	C	6380190	3	2	63	1	0	0	0	0	1	0	0	0	12435	1725	60	4	1093	4	PPP2R2C	4	6380190	Missense_Mutation	SNP	T	TCGA-QT-A7U0-01A-11D-A35D-08		6380190	184774086	5	1151											
PAPSS1	9061	broad.mit.edu	37	4	108535505	108535505	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:108535505C>T	ENST00000265174.4	-	12	2047	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	592					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCAAGTTTGCGCATTCGTGT	0.383													3	71					0	0	1	0	0	T	108535505	C	T	108535505	3	4	63	1	0	0	0	0	1	0	0	0	11481	768	27	1	103	1	PAPSS1	4	108535505	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08	102155315	108535505	82618771	6	1152											
AGXT2	64902	broad.mit.edu	37	5	35035400	35035400	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:35035400C>T	ENST00000231420.6	-	5	708	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	170					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCTTCTGAGCCACTGTTCACC	0.433													29	56					0	0	1	0	0	T	35035400	C	T	35035400	3	4	63	1	0	0	0	0	1	0	0	0	402	594	21	3	1076	3	AGXT2	5	35035400	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		35035400	145879860	7	1153											
GABRA6	2559	broad.mit.edu	37	5	161116048	161116048	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:161116048A>T	ENST00000523217.1	+	4	531	c.289A>T	c.(289-291)Atg>Ttg	p.M97L	GABRA6_ENST00000274545.5_Missense_Mutation_p.M107L|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	107					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAATAATTTGATGGTCAGTAA	0.413										TCGA Ovarian(5;0.080)			4	102					0	0	1	0	0	T	161116048	A	T	161116048	3	4	63	1	0	0	0	0	1	0	0	0	6200	333	12	5	333	5	GABRA6	5	161116048	Missense_Mutation	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08	126080648	161116048	19799212	8	1154											
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr6:51771115C>A	ENST00000371117.3	-	41	6981	c.6706G>T	c.(6706-6708)Gtg>Ttg	p.V2236L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438													3	59					0.115264	0.115264	1	1	0	A	51771115	C	A	51771115	3	1	63	1	0	0	0	0	1	0	0	0	12019	565	20	5	5665	5	PKHD1	6	51771115	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		51771115	119343952	9	1155											
STAG3L2	0	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													3	5	---	---	---	---						-	74300804	A	-	74300804	6	5	63	0	1	1	0	1	0	0	0	0	15301	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-QT-A7U0-01A-11D-A35D-08		74300804	84837859	10	1156											
WDR11	55717	broad.mit.edu	37	10	122662677	122662677	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr10:122662677C>G	ENST00000263461.6	+	23	3110	c.2864C>G	c.(2863-2865)cCt>cGt	p.P955R	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	955						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAAGCTGCTCCTCGAGACAAA	0.498													13	35					0	0	1	0	0	G	122662677	C	G	122662677	3	3	63	1	0	0	0	0	1	0	0	0	17333	681	24	5	2954	5	WDR11	10	122662677	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		122662677	12872070	11	1157											
MTMR10	54893	broad.mit.edu	37	15	31251152	31251152	+	Silent	SNP	G	G	C			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr15:31251152G>C	ENST00000435680.1	-	9	946	c.849C>G	c.(847-849)ctC>ctG	p.L283L	MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000314404.8_Silent_p.L35L|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	283	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCCAGCACCAGAGCTAGGGGA	0.478													29	57					0	0	1	0	0	C	31251152	G	C	31251152	2	2	63	1	0	0	0	0	0	0	0	1	9987	929	33	5		5	MTMR10	15	31251152	Silent	SNP	G	TCGA-QT-A7U0-01A-11D-A35D-08		31251152	71280240	12	1158											
KCNJ12	3768	broad.mit.edu	37	17	21318660	21318660	+	Silent	SNP	C	C	T	rs148939916	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr17:21318660C>T	ENST00000583088.1	+	3	901	c.6C>T	c.(4-6)acC>acT	p.T2T	KCNJ12_ENST00000331718.5_Silent_p.T2T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCGGGATGACCGCGGCCAGCC	0.697										Prostate(3;0.18)			4	26					0	0	1	0	0	T	21318660	C	T	21318660	2	4	63	1	0	0	0	0	0	0	0	1	8090	639	23	2		2	KCNJ12	17	21318660	Silent	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		21318660	59876550	13	1159											
WDR62	284403	broad.mit.edu	37	19	36579971	36579971	+	Silent	SNP	G	G	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:36579971G>T	ENST00000401500.2	+	14	1835	c.1800G>T	c.(1798-1800)ggG>ggT	p.G600G	WDR62_ENST00000270301.7_Silent_p.G600G	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	600					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCTGTGGGGCTGACAAGA	0.627													6	10					0.00116845	0.00121925	1	1	0	T	36579971	G	T	36579971	2	4	63	1	0	0	0	0	0	0	0	1	17373	1219	43	5		5	WDR62	19	36579971	Silent	SNP	G	TCGA-QT-A7U0-01A-11D-A35D-08		36579971	22549012	14	1160											
NLRP8	126205	broad.mit.edu	37	19	56466123	56466123	+	Silent	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:56466123C>T	ENST00000291971.3	+	3	770	c.699C>T	c.(697-699)taC>taT	p.Y233Y	NLRP8_ENST00000590542.1_Silent_p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	233	NACHT.					cytoplasm	ATP binding	p.Y233Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACAAGTTCTACGCCCACAAGC	0.527													13	65					0	0	1	0	0	T	56466123	C	T	56466123	2	4	63	1	0	0	0	0	0	0	0	1	10530	547	19	1		1	NLRP8	19	56466123	Silent	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08	19886152	56466123	2662860	15	1161											
COL18A1	80781	broad.mit.edu	37	21	46906873	46906874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr21:46906873_46906874insG	ENST00000359759.4	+	15	3066_3067	c.3045_3046insG	c.(3043-3048)ccggccfs	p.A1016fs	COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.A601fs|COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.A781fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1016	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGGCCCCCTGGGCCCCCAGG	0.728													2	4	---	---	---	---						G	46906874	-	G	46906873	7	5	63	1	0	1	1	0	0	0	0	0	3698	1567	55	0	3217	0	COL18A1	21	46906873	Frame_Shift_Ins	INS	-	TCGA-QT-A7U0-01A-11D-A35D-08		46906873	1223022	16	1162											
PSME4	23198	broad.mit.edu	37	2	54124014	54124014	+	Silent	SNP	G	G	T			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:54124014G>T	ENST00000404125.1	-	32	3670	c.3615C>A	c.(3613-3615)atC>atA	p.I1205I	PSME4_ENST00000421748.2_Silent_p.I349I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAACAGCTGAGATAGCCATCT	0.353													33	66					4.3181e-19	4.60597e-19	1	1	0	T	54124014	G	T	54124014	2	4	64	1	0	0	0	0	0	0	0	1	12758	932	33	5		5	PSME4	2	54124014	Silent	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		54124014	189075359	1	1163											
TANK	10010	broad.mit.edu	37	2	162061273	162061273	+	Missense_Mutation	SNP	T	T	C			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:162061273T>C	ENST00000392749.2	+	4	535	c.296T>C	c.(295-297)aTt>aCt	p.I99T	TANK_ENST00000406287.1_Missense_Mutation_p.I157T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T|TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	99						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GATAAAGTGATTTCAGGAATA	0.363													15	30					0	0	1	0	0	C	162061273	T	C	162061273	3	2	64	1	0	0	0	0	1	0	0	0	15603	1493	52	4	306	4	TANK	2	162061273	Missense_Mutation	SNP	T	TCGA-RM-A68T-01A-11D-A35D-08	107937259	162061273	81138100	2	1164											
ROBO1	6091	broad.mit.edu	37	3	78719367	78719367	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr3:78719367C>T	ENST00000436010.2	-	9	2307	c.1310G>A	c.(1309-1311)tGt>tAt	p.C437Y	ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.C476Y			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	476	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTGGCCACACAGCTGAGGAC	0.517													4	7					0	0	1	0	0	T	78719367	C	T	78719367	3	4	64	1	0	0	0	0	1	0	0	0	13565	478	17	3	3612	3	ROBO1	3	78719367	Missense_Mutation	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		78719367	119303063	3	1165											
ANKRD55	79722	broad.mit.edu	37	5	55407048	55407048	+	Silent	SNP	C	C	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr5:55407048C>A	ENST00000341048.4	-	10	1678	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000504958.2_Silent_p.V466V	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	508										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CAGAAGAAGACACAGTCCAAA	0.453													33	79					6.02846e-25	6.88966e-25	1	1	0	A	55407048	C	A	55407048	2	1	64	1	0	0	0	0	0	0	0	1	675	465	17	5		5	ANKRD55	5	55407048	Silent	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		55407048	125508212	4	1166											
SPDYE3	441272	broad.mit.edu	37	7	99912168	99912168	+	Translation_Start_Site	SNP	T	T	G			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr7:99912168T>G	ENST00000437326.2	+	0	1180				SPDYE3_ENST00000332397.6_Missense_Mutation_p.D332E			A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3											endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CTGGGGTAGATCCCAGCCCCC	0.572													17	12					0	0	1	0	0	G	99912168	T	G	99912168	1	3	64	1	0	0	0	0	0	0	0	0	15088	1432	50	5		5	SPDYE3	7	99912168	Translation_Start_Site	SNP	T	TCGA-RM-A68T-01A-11D-A35D-08		99912168	59226495	5	1167											
FAM166A	401565	broad.mit.edu	37	9	140139813	140139813	+	Silent	SNP	C	C	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr9:140139813C>A	ENST00000344774.4	-	3	522	c.468G>T	c.(466-468)ggG>ggT	p.G156G	FAM166A_ENST00000388932.2_Silent_p.G156G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	156										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGGCCTCTTCCCCGTATACTG	0.657													12	32					4.3838e-07	4.3838e-07	1	1	0	A	140139813	C	A	140139813	2	1	64	1	0	0	0	0	0	0	0	1	5511	610	22	5		5	FAM166A	9	140139813	Silent	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		140139813	1073618	6	1168											
PPRC1	23082	broad.mit.edu	37	10	103904019	103904019	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr10:103904019G>A	ENST00000278070.2	+	7	3602	c.3563G>A	c.(3562-3564)tGt>tAt	p.C1188Y	PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AAAAAGGAGTGTCCTCCTCCG	0.522													16	29					0	0	1	0	0	A	103904019	G	A	103904019	3	1	64	1	0	0	0	0	1	0	0	0	12459	1377	48	3	3589	3	PPRC1	10	103904019	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		103904019	31630728	7	1169											
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557													12	23					0	0	1	0	0	A	16823313	G	A	16823313	4	1	64	1	0	0	0	0	0	1	0	0	12109	1124	39	2	1188	2	PLEKHA7	11	16823313	Nonsense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		16823313	118183203	8	1170											
ABCC9	10060	broad.mit.edu	37	12	22025622	22025622	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr12:22025622G>A	ENST00000261200.4	-	16	2134	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	ABCC9_ENST00000261201.4_Missense_Mutation_p.S712F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	712	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAAGAGAGGACTTCCCACA	0.418													41	121					0	0	1	0	0	A	22025622	G	A	22025622	3	1	64	1	0	0	0	0	1	0	0	0	59	1174	41	3	2748	3	ABCC9	12	22025622	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		22025622	111826273	9	1171											
NBEA	26960	broad.mit.edu	37	13	35692572	35692572	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr13:35692572delC	ENST00000540320.1	+	16	2738	c.2204delC	c.(2203-2205)gcfs	p.A735fs	NBEA_ENST00000400445.3_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs			Q8NFP9	NBEA_HUMAN	neurobeachin	735						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAACACCCAGCCTCAATGATA	0.333													2	4	---	---	---	---						-	35692572	C	-	35692572	7	5	64	1	0	1	0	1	0	0	0	0	10235	739	26	0	2266	0	NBEA	13	35692572	Frame_Shift_Del	DEL	C	TCGA-RM-A68T-01A-11D-A35D-08		35692572	79477306	10	1172											
JAG2	3714	broad.mit.edu	37	14	105634399	105634399	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr14:105634399G>A	ENST00000331782.3	-	2	515	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.R38W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	38					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTCACGTTCCGCAGCGCGCTC	0.726													9	16					0	0	1	0	0	A	105634399	G	A	105634399	3	1	64	1	0	0	0	0	1	0	0	0	7979	1086	38	1	3704	1	JAG2	14	105634399	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		105634399	1715141	11	1173											
BAHD1	22893	broad.mit.edu	37	15	40758272	40758272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr15:40758272delC	ENST00000561234.1	+	7	2542	c.2283delC	c.(2281-2283)ttfs	p.F761fs	BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000416165.1_Frame_Shift_Del_p.F762fs			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	762	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGCTGGTGTTCCTTTGCCGCC	0.632													24	75	---	---	---	---						-	40758272	C	-	40758272	7	5	64	1	0	1	0	1	0	0	0	0	1295	854	30	0	2308	0	BAHD1	15	40758272	Frame_Shift_Del	DEL	C	TCGA-RM-A68T-01A-11D-A35D-08		40758272	61773120	12	1174											
PLIN4	729359	broad.mit.edu	37	19	4512008	4512008	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr19:4512008G>A	ENST00000301286.3	-	3	1921	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	641	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ATTTTGGGTCGTTTTCAGCCC	0.557													4	120					0	0	1	0	0	A	4512008	G	A	4512008	3	1	64	1	0	0	0	0	1	0	0	0	12140	1145	40	1	2167	1	PLIN4	19	4512008	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		4512008	54616975	13	1175											
ZNF341	84905	broad.mit.edu	37	20	32336747	32336747	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr20:32336747G>A	ENST00000375200.1	+	4	723	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATACATCACAGTGCCCCCGTC	0.552													10	22					0	0	1	0	0	A	32336747	G	A	32336747	3	1	64	1	0	0	0	0	1	0	0	0	17914	1029	36	3	372	3	ZNF341	20	32336747	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		32336747	30688773	14	1176											
ZDBF2	57683	broad.mit.edu	37	2	207172767	207172767	+	Missense_Mutation	SNP	T	T	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr2:207172767T>A	ENST00000374423.3	+	5	3901	c.3515T>A	c.(3514-3516)gTc>gAc	p.V1172D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1172							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTCAATAGTCAATCGACCT	0.368													6	61					0	0	1	0	0	A	207172767	T	A	207172767	3	1	65	1	0	0	0	0	1	0	0	0	17657	1667	58	5	3525	5	ZDBF2	2	207172767	Missense_Mutation	SNP	T	TCGA-RM-A68W-01A-11D-A35D-08		207172767	36026606	1	1177											
PTMA	5757	broad.mit.edu	37	2	232574915	232574915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr2:232574915delG	ENST00000410064.1	+	1	425	c.27delG	c.(25-27)gtfs	p.V9fs	PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron|PTMA_ENST00000466801.1_Intron			P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTGCCGGGGTGGCGGCAGTGG	0.721													2	4	---	---	---	---						-	232574915	G	-	232574915	7	5	65	1	0	1	0	1	0	0	0	0	12816	1363	47	0		0	PTMA	2	232574915	Frame_Shift_Del	DEL	G	TCGA-RM-A68W-01A-11D-A35D-08	25402148	232574915	10624458	2	1178											
SLC35B2	347734	broad.mit.edu	37	6	44224447	44224447	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr6:44224447delG	ENST00000393812.3	-	2	323	c.180delC	c.(178-180)ttfs	p.F60fs	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	60					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCGCCTGAAGTACTGCA	0.547													11	213	---	---	---	---						-	44224447	G	-	44224447	7	5	65	1	0	1	0	1	0	0	0	0	14631	1281	45	0	1130	0	SLC35B2	6	44224447	Frame_Shift_Del	DEL	G	TCGA-RM-A68W-01A-11D-A35D-08		44224447	126890620	3	1179											
DCHS1	8642	broad.mit.edu	37	11	6645532	6645532	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:6645532C>T	ENST00000299441.3	-	21	7786	c.7375G>A	c.(7375-7377)Gct>Act	p.A2459T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2459	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCCTGGAGCCCCGTGGTCT	0.617													3	4					0	0	1	0	0	T	6645532	C	T	6645532	3	4	65	1	0	0	0	0	1	0	0	0	4310	739	26	3	2525	3	DCHS1	11	6645532	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		6645532	128360984	4	1180											
C11orf82	220042	broad.mit.edu	37	11	82645030	82645030	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:82645030G>A	ENST00000533655.1	+	6	2862	c.2650G>A	c.(2650-2652)Ggt>Agt	p.G884S	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	884					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAAGGCATAGGTCTAGGGAA	0.398													4	46					0	0	1	0	0	A	82645030	G	A	82645030	3	1	65	1	0	0	0	0	1	0	0	0	1670	1000	35	3	2664	3	C11orf82	11	82645030	Missense_Mutation	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	75999498	82645030	52361486	5	1181											
NFE2	4778	broad.mit.edu	37	12	54686887	54686887	+	Silent	SNP	C	C	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr12:54686887C>A	ENST00000540264.2	-	2	902	c.393G>T	c.(391-393)ctG>ctT	p.L131L	NFE2_ENST00000435572.2_Silent_p.L131L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	131	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCCTGCTGGCAGCCCAATGT	0.577													4	99					2.56e-06	2.78261e-06	1	1	0	A	54686887	C	A	54686887	2	1	65	1	0	0	0	0	0	0	0	1	10413	697	25	5		5	NFE2	12	54686887	Silent	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		54686887	79165008	6	1182											
SLC35B1	10237	broad.mit.edu	37	17	47780342	47780342	+	Missense_Mutation	SNP	C	C	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr17:47780342C>G	ENST00000240333.6	-	8	915	c.794G>C	c.(793-795)gGt>gCt	p.G265A	SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A			P78383	S35B1_HUMAN	solute carrier family 35, member B1	265						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GGTCAGGGGACCAAAATACAC	0.473													14	27					0	0	1	0	0	G	47780342	C	G	47780342	3	3	65	1	0	0	0	0	1	0	0	0	14630	507	18	5	182	5	SLC35B1	17	47780342	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		47780342	33414868	7	1183											
MUC16	94025	broad.mit.edu	37	19	9065747	9065747	+	Silent	SNP	A	A	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr19:9065747A>G	ENST00000397910.4	-	3	21902	c.21699T>C	c.(21697-21699)acT>acC	p.T7233T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7235	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCTGCTAGTCTCCAAGA	0.478													4	147					0	0	1	0	0	G	9065747	A	G	9065747	2	3	65	1	0	0	0	0	0	0	0	1	10021	407	15	4		4	MUC16	19	9065747	Silent	SNP	A	TCGA-RM-A68W-01A-11D-A35D-08		9065747	50063236	8	1184											
SCO2	9997	broad.mit.edu	37	22	50962137	50962137	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr22:50962137C>T	ENST00000543927.1	-	2	910	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SCO2_ENST00000395693.3_Missense_Mutation_p.G235D|SCO2_ENST00000535425.1_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	235	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGAAGAGGCCGTCAGGGTT	0.582													5	97					0	0	1	0	0	T	50962137	C	T	50962137	3	4	65	1	0	0	0	0	1	0	0	0	13986	739	26	3	100	3	SCO2	22	50962137	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		50962137	342429	9	1185											
PAK3	5063	broad.mit.edu	37	X	110435356	110435356	+	Splice_Site	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:110435356G>A	ENST00000519681.1	+	13	1337	c.893_splice	c.e13-1	p.A299_splice	PAK3_ENST00000446737.1_Splice_Site_p.A278_splice|PAK3_ENST00000372007.4_Splice_Site_p.A278_splice|PAK3_ENST00000372010.1_Splice_Site_p.A293_splice|PAK3_ENST00000360648.4_Splice_Site_p.A314_splice|PAK3_ENST00000262836.4_Splice_Site_p.A293_splice|PAK3_ENST00000518291.1_Splice_Site_p.A314_splice|PAK3_ENST00000425146.1_Splice_Site_p.A278_splice|PAK3_ENST00000417227.1_Splice_Site_p.A299_splice			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	293	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCTTCACAGGGCATCAGGTAC	0.308										TSP Lung(19;0.15)			4	116					0	0	1	0	0	A	110435356	G	A	110435356	5	1	65	1	0	0	0	0	0	0	1	0	11449	1217	42	3	978	3	PAK3	23	110435356	Splice_Site	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08		110435356	44835204	10	1186											
AMOT	154796	broad.mit.edu	37	X	112021835	112021835	+	Missense_Mutation	SNP	C	C	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:112021835C>A	ENST00000371959.3	-	11	3214	c.3215G>T	c.(3214-3216)gGa>gTa	p.G1072V	AMOT_ENST00000524145.1_Missense_Mutation_p.G1072V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1072					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCTCTTGTCCCAGGATCTG	0.408													73	279					5.04879e-28	5.73726e-28	1	1	0	A	112021835	C	A	112021835	3	1	65	1	0	0	0	0	1	0	0	0	578	855	30	5	43	5	AMOT	23	112021835	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08	1586479	112021835	43248725	11	1187											
IGSF1	3547	broad.mit.edu	37	X	130408639	130408639	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:130408639G>A	ENST00000370904.1	-	24	4568	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C	IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R1229C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1229	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTGGAGGCGGTAGCTGCAG	0.512													58	137					0	0	1	0	0	A	130408639	G	A	130408639	3	1	65	1	0	0	0	0	1	0	0	0	7640	1116	39	2	337	2	IGSF1	23	130408639	Missense_Mutation	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	18386804	130408639	24861921	12	1188											
FAM127C	441518	broad.mit.edu	37	X	134156379	134156379	+	Silent	SNP	G	G	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:134156379G>T	ENST00000391440.1	-	1	180	c.111C>A	c.(109-111)acC>acA	p.T37T		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	37										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGCCGGTCGGTATCGCCAT	0.632													5	98					0.000602214	0.000602214	1	1	0	T	134156379	G	T	134156379	2	4	65	1	0	0	0	0	0	0	0	1	5464	1103	39	5		5	FAM127C	23	134156379	Silent	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	3747740	134156379	21114181	13	1189											
ATP1A4	480	broad.mit.edu	37	1	160141222	160141222	+	Missense_Mutation	SNP	G	G	A			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr1:160141222G>A	ENST00000368081.4	+	11	2144	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	558					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R558H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGGGGAACGTGTGCTAGGT	0.443													12	20					0	0	1	0	0	A	160141222	G	A	160141222	3	1	66	1	0	0	0	0	1	0	0	0	1130	1145	40	1	1715	1	ATP1A4	1	160141222	Missense_Mutation	SNP	G	TCGA-RT-A6Y9-01A-12D-A35D-08		160141222	89109399	1	1190											
SLC20A1	6574	broad.mit.edu	37	2	113405018	113405018	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr2:113405018A>G	ENST00000272542.3	+	3	991	c.452A>G	c.(451-453)aAg>aGg	p.K151R		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	151					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GAGGGTGTCAAGTGGTCTGAA	0.433													52	79					0	0	1	0	0	G	113405018	A	G	113405018	3	3	66	1	0	0	0	0	1	0	0	0	14493	72	3	4	458	4	SLC20A1	2	113405018	Missense_Mutation	SNP	A	TCGA-RT-A6Y9-01A-12D-A35D-08		113405018	129794355	2	1191											
HDLBP	3069	broad.mit.edu	37	2	242187753	242187753	+	Missense_Mutation	SNP	C	C	G			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr2:242187753C>G	ENST00000391975.1	-	13	1750	c.1523G>C	c.(1522-1524)cGt>cCt	p.R508P	HDLBP_ENST00000427183.2_Missense_Mutation_p.R475P|HDLBP_ENST00000391976.2_Missense_Mutation_p.R508P|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508P	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	508	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.R508H(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATCCTTGGTACGCTCATTTTC	0.458													15	29					0	0	1	0	0	G	242187753	C	G	242187753	3	3	66	1	0	0	0	0	1	0	0	0	7066	536	19	5	2347	5	HDLBP	2	242187753	Missense_Mutation	SNP	C	TCGA-RT-A6Y9-01A-12D-A35D-08	128782735	242187753	1011620	3	1192											
MAP4	4134	broad.mit.edu	37	3	47958222	47958222	+	Silent	SNP	G	G	A			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr3:47958222G>A	ENST00000426837.2	-	8	1233	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	MAP4_ENST00000360240.6_Silent_p.A365A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A365A			P27816	MAP4_HUMAN	microtubule-associated protein 4	365	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGGGCTAAGTCCA	0.478													4	85					0	0	1	0	0	A	47958222	G	A	47958222	2	1	66	1	0	0	0	0	0	0	0	1	9308	1219	43	3		3	MAP4	3	47958222	Silent	SNP	G	TCGA-RT-A6Y9-01A-12D-A35D-08		47958222	150064208	4	1193	10	2									
MAP4	4134	broad.mit.edu	37	3	47958225	47958225	+	Silent	SNP	T	T	C			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr3:47958225T>C	ENST00000426837.2	-	8	1230	c.1143A>G	c.(1141-1143)ttA>ttG	p.L381L	MAP4_ENST00000360240.6_Silent_p.L364L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.L364L			P27816	MAP4_HUMAN	microtubule-associated protein 4	364	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L364L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGGGCTAAGTCCATTT	0.478													4	88					0	0	1	0	0	C	47958225	T	C	47958225	2	2	66	1	0	0	0	0	0	0	0	1	9308	1519	53	4		4	MAP4	3	47958225	Silent	SNP	T	TCGA-RT-A6Y9-01A-12D-A35D-08	3	47958225	150064205	5	1194	10	2									
AVL9	23080	broad.mit.edu	37	7	32582854	32582854	+	Silent	SNP	C	C	T			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65						integral to membrane		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423													5	82					0	0	1	0	0	T	32582854	C	T	32582854	2	4	66	1	0	0	0	0	0	0	0	1	1226	755	27	1		1	AVL9	7	32582854	Silent	SNP	C	TCGA-RT-A6Y9-01A-12D-A35D-08		32582854	126555809	6	1195											
NKX6-3	157848	broad.mit.edu	37	8	41504197	41504197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr8:41504197delC	ENST00000524115.2	-	2	182	c.179delG	c.(178-180)ccfs	p.R61fs		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	191						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGGTCCTGCGGTTCTGGAA	0.677													2	4	---	---	---	---						-	41504197	C	-	41504197	7	5	66	1	0	1	0	1	0	0	0	0	10506	768	27	0	232	0	NKX6-3	8	41504197	Frame_Shift_Del	DEL	C	TCGA-RT-A6Y9-01A-12D-A35D-08		41504197	104859825	7	1196											
STAG2	10735	broad.mit.edu	37	X	123171406	123171407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chrX:123171406_123171407insA	ENST00000371160.1	+	6	608_609	c.318_319insA	c.(316-321)taagcafs	p.A107fs	STAG2_ENST00000354548.5_Frame_Shift_Ins_p.A38fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.A107fs			Q8N3U4	STAG2_HUMAN	stromal antigen 2	107					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGAATCATACAAGCATGACCG	0.327													47	62	---	---	---	---						A	123171407	-	A	123171406	7	5	66	1	0	1	1	0	0	0	0	0	15299	489	17	0	332	0	STAG2	23	123171406	Frame_Shift_Ins	INS	-	TCGA-RT-A6Y9-01A-12D-A35D-08		123171406	32099154	8	1197											
PADI2	11240	broad.mit.edu	37	1	17395638	17395638	+	Silent	SNP	G	G	A	rs61731909		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr1:17395638G>A	ENST00000375486.4	-	16	1962	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	PADI2_ENST00000444885.2_Silent_p.D517D|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597													16	53					0	0	1	0	0	A	17395638	G	A	17395638	2	1	67	1	0	0	0	0	0	0	0	1	11425	1136	40	1		1	PADI2	1	17395638	Silent	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		17395638	231854983	1	1198											
ARHGAP30	257106	broad.mit.edu	37	1	161039405	161039405	+	Missense_Mutation	SNP	G	G	A	rs149081252		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr1:161039405G>A	ENST00000368013.3	-	1	330	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R4W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	4					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTTTCTGCCGAGACTTCATG	0.637													6	66					0	0	1	0	0	A	161039405	G	A	161039405	3	1	67	1	0	0	0	0	1	0	0	0	876	1057	37	2	3343	2	ARHGAP30	1	161039405	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	143643767	161039405	88211216	2	1199											
ASTL	431705	broad.mit.edu	37	2	96789863	96789863	+	Missense_Mutation	SNP	T	T	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr2:96789863T>A	ENST00000342380.2	-	9	1021	c.1022A>T	c.(1021-1023)gAg>gTg	p.E341V		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	341					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATGTGGGCTCTCCCCAGGCCC	0.652													4	75					0	0	1	0	0	A	96789863	T	A	96789863	3	1	67	1	0	0	0	0	1	0	0	0	1062	1551	54	5	276	5	ASTL	2	96789863	Missense_Mutation	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08		96789863	146409510	3	1200											
LCT	3938	broad.mit.edu	37	2	136564823	136564823	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr2:136564823C>T	ENST00000264162.2	-	9	4058	c.4048G>A	c.(4048-4050)Gcc>Acc	p.A1350T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1350	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGGCGGAGGCTCTTGCTGTG	0.517													7	61					0	0	1	0	0	T	136564823	C	T	136564823	3	4	67	1	0	0	0	0	1	0	0	0	8732	797	28	3	1771	3	LCT	2	136564823	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	39774960	136564823	106634550	4	1201											
SLC12A8	84561	broad.mit.edu	37	3	124854521	124854521	+	Missense_Mutation	SNP	G	G	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr3:124854521G>A	ENST00000423114.2	-	6	814	c.815C>T	c.(814-816)gCg>gTg	p.A272V	SLC12A8_ENST00000469902.1_Missense_Mutation_p.A243V|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.A243V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	243					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACCTGTAGCCGCTGGGAAGAA	0.448													4	12					0	0	1	0	0	A	124854521	G	A	124854521	3	1	67	1	0	0	0	0	1	0	0	0	14444	1087	38	1	1452	1	SLC12A8	3	124854521	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		124854521	73167909	5	1202											
KBTBD2	25948	broad.mit.edu	37	7	32910344	32910344	+	Missense_Mutation	SNP	G	G	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr7:32910344G>A	ENST00000304056.4	-	4	1184	c.485C>T	c.(484-486)gCt>gTt	p.A162V	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	162										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATGATACACAGCAGTGAACTT	0.398													9	73					0	0	1	0	0	A	32910344	G	A	32910344	3	1	67	1	0	0	0	0	1	0	0	0	8037	971	34	3	1390	3	KBTBD2	7	32910344	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		32910344	126228319	6	1203											
CSMD1	64478	broad.mit.edu	37	8	2815310	2815310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr8:2815310delA	ENST00000520002.1	-	64	10280	c.9725delT	c.(9724-9726)tcfs	p.F3242fs	CSMD1_ENST00000602723.1_Frame_Shift_Del_p.F3065fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.F3241fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.F3242fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.F3064fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.F3065fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3242	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGCACCTGAAAAAAACCGT	0.453													2	4	---	---	---	---						-	2815310	A	-	2815310	7	5	67	1	0	1	0	1	0	0	0	0	3969	246	9	0	1004	0	CSMD1	8	2815310	Frame_Shift_Del	DEL	A	TCGA-RT-A6YA-01A-12D-A35D-08		2815310	143548712	7	1204											
DGAT2	84649	broad.mit.edu	37	11	75509417	75509417	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr11:75509417C>T	ENST00000228027.7	+	7	1215	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	DGAT2_ENST00000376262.3_Missense_Mutation_p.L276F	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	319					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TGGTCGAGGCCTCTTCTCCTC	0.587													6	28					0	0	1	0	0	T	75509417	C	T	75509417	3	4	67	1	0	0	0	0	1	0	0	0	4486	681	24	3	981	3	DGAT2	11	75509417	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		75509417	59497099	8	1205											
FOXM1	2305	broad.mit.edu	37	12	2970493	2970493	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:2970493A>G	ENST00000342628.2	-	9	1465	c.1352T>C	c.(1351-1353)tTg>tCg	p.L451S	FOXM1_ENST00000361953.3_Intron|FOXM1_ENST00000359843.3_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	422					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			aaaattaaacaagctggtgat	0.363													6	24					0	0	1	0	0	G	2970493	A	G	2970493	3	3	67	1	0	0	0	0	1	0	0	0	6052	131	5	4	1061	4	FOXM1	12	2970493	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08		2970493	130881402	9	1206											
ARID2	196528	broad.mit.edu	37	12	46246107	46246107	+	Missense_Mutation	SNP	A	A	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:46246107A>C	ENST00000334344.6	+	15	4373	c.4201A>C	c.(4201-4203)Atc>Ctc	p.I1401L	ARID2_ENST00000457135.1_Missense_Mutation_p.I9L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.I1252L|ARID2_ENST00000444670.1_Missense_Mutation_p.I1011L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1401					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACTTTAGATATCACTCAGCA	0.383			"N, S, F"		hepatocellular carcinoma								7	50					0	0	1	0	0	C	46246107	A	C	46246107	3	2	67	1	0	0	0	0	1	0	0	0	912	449	16	5	4259	5	ARID2	12	46246107	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08	43275614	46246107	87605788	10	1207											
FGD6	55785	broad.mit.edu	37	12	95604019	95604019	+	Missense_Mutation	SNP	G	G	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:95604019G>C	ENST00000343958.4	-	2	1264	c.1041C>G	c.(1039-1041)agC>agG	p.S347R	FGD6_ENST00000546711.1_Missense_Mutation_p.S347R|FGD6_ENST00000549499.1_Missense_Mutation_p.S347R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	347	Poly-Ser.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GACAGGAAGAGCTACTGTCTG	0.418													35	46					0	0	1	0	0	C	95604019	G	C	95604019	3	2	67	1	0	0	0	0	1	0	0	0	5870	962	34	5	3331	5	FGD6	12	95604019	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	49357912	95604019	38247876	11	1208											
ATXN2	6311	broad.mit.edu	37	12	111894043	111894043	+	Silent	SNP	G	G	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:111894043G>A	ENST00000377617.3	-	23	3695	c.3534C>T	c.(3532-3534)gcC>gcT	p.A1178A	ATXN2_ENST00000542287.2_Silent_p.A913A|ATXN2_ENST00000535949.1_Silent_p.A871A|ATXN2_ENST00000389153.4_Silent_p.A915A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1178					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGCCTGGGCGGCCTGGTGCT	0.552													10	103					0	0	1	0	0	A	111894043	G	A	111894043	2	1	67	1	0	0	0	0	0	0	0	1	1209	1103	39	2		2	ATXN2	12	111894043	Silent	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	16290024	111894043	21957852	12	1209											
IRF9	10379	broad.mit.edu	37	14	24633826	24633826	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr14:24633826A>G	ENST00000396864.3	+	7	940	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.Y116C	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	218					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCCCCAGACTACTCACTGCTG	0.642													16	100					0	0	1	0	0	G	24633826	A	G	24633826	3	3	67	1	0	0	0	0	1	0	0	0	7881	391	14	4	675	4	IRF9	14	24633826	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08		24633826	82715714	13	1210											
TDRD9	122402	broad.mit.edu	37	14	104473169	104473169	+	Missense_Mutation	SNP	T	T	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr14:104473169T>C	ENST00000409874.4	+	18	2042	c.1994T>C	c.(1993-1995)gTt>gCt	p.V665A	TDRD9_ENST00000339063.5_Missense_Mutation_p.V665A	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	665					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCACTTGTTGAGGCATTT	0.358													4	10					0	0	1	0	0	C	104473169	T	C	104473169	3	2	67	1	0	0	0	0	1	0	0	0	15795	1725	60	4	2064	4	TDRD9	14	104473169	Missense_Mutation	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08	79839343	104473169	2876371	14	1211											
MYO5C	55930	broad.mit.edu	37	15	52488561	52488561	+	Missense_Mutation	SNP	G	G	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr15:52488561G>A	ENST00000261839.7	-	39	5101	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1647	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATCACTGTCTGTGGTCTTCTT	0.512													7	42					0	0	1	0	0	A	52488561	G	A	52488561	3	1	67	1	0	0	0	0	1	0	0	0	10128	1377	48	3	300	3	MYO5C	15	52488561	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		52488561	50042831	15	1212											
SEC14L5	9717	broad.mit.edu	37	16	5057420	5057420	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr16:5057420C>T	ENST00000251170.7	+	13	1685	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	502						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAGGAGCACACGGACCAGCTG	0.647													12	14					0	0	1	0	0	T	5057420	C	T	5057420	3	4	67	1	0	0	0	0	1	0	0	0	14039	536	19	1	1551	1	SEC14L5	16	5057420	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		5057420	85297333	16	1213											
RLTPR	146206	broad.mit.edu	37	16	67680391	67680391	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr16:67680391C>T	ENST00000334583.6	+	6	765	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RLTPR_ENST00000545661.1_Missense_Mutation_p.S146L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	146										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCAGCCCCTCGGAGTCCACT	0.652													4	63					0	0	1	0	0	T	67680391	C	T	67680391	3	4	67	1	0	0	0	0	1	0	0	0	13446	893	31	2	459	2	RLTPR	16	67680391	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	62622971	67680391	22674362	17	1214											
NF1	4763	broad.mit.edu	37	17	29556992	29556992	+	Splice_Site	SNP	G	G	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr17:29556992G>C	ENST00000358273.4	+	22	3373	c.2990_splice	c.e22+1	p.R997_splice	NF1_ENST00000356175.3_Splice_Site_p.R997_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	997					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R997K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTGGTCAGGTAAGCATTC	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	11					0	0	1	0	0	C	29556992	G	C	29556992	5	2	67	1	0	0	0	0	0	0	1	0	10403	1014	35	5	3137	5	NF1	17	29556992	Splice_Site	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		29556992	51638218	18	1215											
FBXL20	84961	broad.mit.edu	37	17	37420555	37420555	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr17:37420555A>G	ENST00000264658.6	-	14	1336	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	FBXL20_ENST00000577399.1_Missense_Mutation_p.I361T|FBXL20_ENST00000583610.1_Missense_Mutation_p.I359T|FBXL20_ENST00000394294.3_Missense_Mutation_p.I327T	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	359						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTCCAGCTCAATCACCTCCAG	0.522													7	36					0	0	1	0	0	G	37420555	A	G	37420555	3	3	67	1	0	0	0	0	1	0	0	0	5750	101	4	4	242	4	FBXL20	17	37420555	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08	7863563	37420555	43774655	19	1216											
BCAS3	54828	broad.mit.edu	37	17	59465991	59465992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr17:59465991_59465992insA	ENST00000589222.1	+	25	2740_2741	c.2672_2673insA	c.(2671-2673)gaafs	p.E891fs	BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAAAAAAAGGAAAAAAAAAAC	0.431													3	4	---	---	---	---						A	59465992	-	A	59465991	7	5	67	1	0	1	1	0	0	0	0	0	1350	1189	41	0		0	BCAS3	17	59465991	Frame_Shift_Ins	INS	-	TCGA-RT-A6YA-01A-12D-A35D-08	22045436	59465991	21729219	20	1217											
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gac>ga	p.ED79del	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69													3	3	---	---	---	---						-	24128264	TCC	-	24128262	7	5	67	1	0	1	0	1	0	0	0	0	8140	1667	58	0	2378	0	KCTD1	18	24128262	In_Frame_Del	DEL	TCC	TCGA-RT-A6YA-01A-12D-A35D-08		24128262	53948986	21	1218											
NPHS1	4868	broad.mit.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													6	105					0	0	1	0	0	T	36333388	C	T	36333388	3	4	67	1	0	0	0	0	1	0	0	0	10629	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		36333388	22795595	22	1219											
RYR1	6261	broad.mit.edu	37	19	38976754	38976754	+	Missense_Mutation	SNP	G	G	A			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr19:38976754G>A	ENST00000355481.4	+	34	5590	c.5459G>A	c.(5458-5460)cGc>cAc	p.R1820H	RYR1_ENST00000359596.3_Missense_Mutation_p.R1820H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1820H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1820	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGCGGTGCGCGACGGTGGG	0.706													10	77					0	0	1	0	0	A	38976754	G	A	38976754	3	1	67	1	0	0	0	0	1	0	0	0	13820	1087	38	1	5593	1	RYR1	19	38976754	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	2643366	38976754	20152229	23	1220											
FOXA2	3170	broad.mit.edu	37	20	22563313	22563313	+	Missense_Mutation	SNP	G	G	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr20:22563313G>C	ENST00000419308.2	-	2	751	c.549C>G	c.(547-549)agC>agG	p.S183R	FOXA2_ENST00000377115.4_Missense_Mutation_p.S183R|FOXA2_ENST00000319993.4_Missense_Mutation_p.S189R	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	183					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGTAGATCTCGCTCAGCGTCA	0.587													61	58					0	0	1	0	0	C	22563313	G	C	22563313	3	2	67	1	0	0	0	0	1	0	0	0	6023	1078	38	5	828	5	FOXA2	20	22563313	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		22563313	40462207	24	1221											
TAB3	257397	broad.mit.edu	37	X	30877655	30877655	+	Silent	SNP	T	T	C			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chrX:30877655T>C	ENST00000378933.1	-	2	228	c.51A>G	c.(49-51)cgA>cgG	p.R17R	TAB3_ENST00000288422.2_Silent_p.R17R|TAB3_ENST00000378932.2_Silent_p.R17R|TAB3_ENST00000378930.3_Silent_p.R17R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	17	CUE.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGAAACGTTGTCGAAGATCAT	0.448													4	22					0	0	1	0	0	C	30877655	T	C	30877655	2	2	67	1	0	0	0	0	0	0	0	1	15554	1654	58	4		4	TAB3	23	30877655	Silent	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08		30877655	124392905	25	1222											
MAGEC1	9947	broad.mit.edu	37	X	140994473	140994473	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chrX:140994473C>T	ENST00000285879.4	+	4	1569	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	428							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCTCCTGAGAGTGCT	0.448										HNSCC(15;0.026)			7	184					0	0	1	0	0	T	140994473	C	T	140994473	3	4	67	1	0	0	0	0	1	0	0	0	9230	681	24	3	1289	3	MAGEC1	23	140994473	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	110116818	140994473	14276087	26	1223											
SACM1L	22908	broad.mit.edu	37	3	45748365	45748365	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr3:45748365A>G	ENST00000389061.5	+	4	503	c.299A>G	c.(298-300)tAt>tGt	p.Y100C	SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	100						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTTTCTTATAAGAAGACA	0.373													24	40					0	0	1	0	0	G	45748365	A	G	45748365	3	3	68	1	0	0	0	0	1	0	0	0	13855	449	16	4	313	4	SACM1L	3	45748365	Missense_Mutation	SNP	A	TCGA-RT-A6YC-01A-12D-A35D-08		45748365	152274065	1	1224											
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													5	53					0	0	1	0	0	T	144826671	C	T	144826671	1	4	68	1	0	0	0	0	0	0	0	0	6952	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		144826671	46327605	2	1225											
HIST1H2AA	221613	broad.mit.edu	37	6	25726526	25726527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr6:25726526_25726527insT	ENST00000297012.3	-	1	263_264	c.229_230insA	c.(229-231)tcgfs	p.S77fs		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	77					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AATAATGCGAGTTTTTTTGTTA	0.545													31	73	---	---	---	---						T	25726527	-	T	25726526	7	5	68	1	0	1	1	0	0	0	0	0	7169	1029	36	0	169	0	HIST1H2AA	6	25726526	Frame_Shift_Ins	INS	-	TCGA-RT-A6YC-01A-12D-A35D-08		25726526	145388541	3	1226											
AHR	196	broad.mit.edu	37	7	17382667	17382667	+	Silent	SNP	G	G	A			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr7:17382667G>A	ENST00000242057.4	+	11	3169	c.2526G>A	c.(2524-2526)ttG>ttA	p.L842L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	842				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTCCTGATTTGACATCCAGTG	0.368													7	280					0	0	1	0	0	A	17382667	G	A	17382667	2	1	68	1	0	0	0	0	0	0	0	1	413	1281	45	3		3	AHR	7	17382667	Silent	SNP	G	TCGA-RT-A6YC-01A-12D-A35D-08		17382667	141755996	4	1227											
NFYB	4801	broad.mit.edu	37	12	104517193	104517193	+	Silent	SNP	T	T	C			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr12:104517193T>C	ENST00000240055.3	-	5	467	c.240A>G	c.(238-240)aaA>aaG	p.K80K	NFYB_ENST00000551727.1_Silent_p.K80K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	80	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTGGCATCTTTTGCAATCT	0.348													3	27					0	0	1	0	0	C	104517193	T	C	104517193	2	2	68	1	0	0	0	0	0	0	0	1	10437	1606	56	4		4	NFYB	12	104517193	Silent	SNP	T	TCGA-RT-A6YC-01A-12D-A35D-08		104517193	29334702	5	1228											
EVPL	2125	broad.mit.edu	37	17	74005061	74005061	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr17:74005061C>T	ENST00000301607.3	-	22	4478	c.4225G>A	c.(4225-4227)Gtg>Atg	p.V1409M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1409	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCTGCTGCACCTCAAGCTCT	0.701													18	36					0	0	1	0	0	T	74005061	C	T	74005061	3	4	68	1	0	0	0	0	1	0	0	0	5320	507	18	3	1880	3	EVPL	17	74005061	Missense_Mutation	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		74005061	7190149	6	1229											
OR7G3	390883	broad.mit.edu	37	19	9237506	9237506	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr19:9237506C>T	ENST00000305444.2	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCAGGTTCCCCAGCATTGTG	0.542													3	52					0	0	1	0	0	T	9237506	C	T	9237506	3	4	68	1	0	0	0	0	1	0	0	0	11271	623	22	3	820	3	OR7G3	19	9237506	Missense_Mutation	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		9237506	49891477	7	1230											
MYT1	4661	broad.mit.edu	37	20	62854521	62854521	+	Silent	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr20:62854521C>T	ENST00000536311.1	+	15	2899	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000328439.1_Silent_p.H818H			Q01538	MYT1_HUMAN	myelin transcription factor 1	818					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGCCTCCCACCGCAGGTTTG	0.612													4	122					0	0	1	0	0	T	62854521	C	T	62854521	2	4	68	1	0	0	0	0	0	0	0	1	10154	506	18	3		3	MYT1	20	62854521	Silent	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		62854521	170999	8	1231											
PADI1	29943	broad.mit.edu	37	1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	rs142259163		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552													6	33					0	0	1	0	0	T	17548858	C	T	17548858	3	4	69	1	0	0	0	0	1	0	0	0	11424	652	23	2	172	2	PADI1	1	17548858	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		17548858	231701763	1	1232											
PUM2	23369	broad.mit.edu	37	2	20463176	20463176	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:20463176C>T	ENST00000361078.2	-	13	2025	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PUM2_ENST00000338086.5_Missense_Mutation_p.G668E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000536417.1_Missense_Mutation_p.G612E			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	668	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTCTGCTCCAGGTGCTGC	0.443													43	63					0	0	1	0	0	T	20463176	C	T	20463176	3	4	69	1	0	0	0	0	1	0	0	0	12878	855	30	3	1223	3	PUM2	2	20463176	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		20463176	222736197	2	1233											
SPDYA	245711	broad.mit.edu	37	2	29072796	29072796	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:29072796A>C	ENST00000334056.5	+	8	1120	c.931A>C	c.(931-933)Agt>Cgt	p.S311R	SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|TRMT61B_ENST00000306108.5_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	311					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GTTTACAGGAAGTGAAGAATG	0.323													16	26					0	0	1	0	0	C	29072796	A	C	29072796	3	2	69	1	0	0	0	0	1	0	0	0	15083	72	3	5	964	5	SPDYA	2	29072796	Missense_Mutation	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08	8609620	29072796	214126577	3	1234											
TTN	7273	broad.mit.edu	37	2	179430601	179430601	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:179430601T>C	ENST00000589042.1	-	326	80482	c.80258A>G	c.(80257-80259)tAt>tGt	p.Y26753C	TTN_ENST00000591111.1_Missense_Mutation_p.Y25112C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25112	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAAGTAATAAATGGCTCC	0.418													12	123					0	0	1	0	0	C	179430601	T	C	179430601	3	2	69	1	0	0	0	0	1	0	0	0	16797	1406	49	4	27869	4	TTN	2	179430601	Missense_Mutation	SNP	T	TCGA-RW-A67V-01A-11D-A35D-08	150357805	179430601	63768772	4	1235											
RPS12	6206	broad.mit.edu	37	6	133138155	133138155	+	Silent	SNP	G	G	A	rs1052683		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr6:133138155G>A	ENST00000230050.3	+	5	501	c.291G>A	c.(289-291)gaG>gaA	p.E97E		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TTGACAGAGAGGGGAAACCCC	0.373													3	38					0	0	1	0	0	A	133138155	G	A	133138155	2	1	69	1	0	0	0	0	0	0	0	1	13674	991	35	3		3	RPS12	6	133138155	Silent	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		133138155	37976912	5	1236											
ADO	84890	broad.mit.edu	37	10	64565028	64565028	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr10:64565028C>T	ENST00000373783.1	+	1	513	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	70							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACATCGCCCCGCGCAAGGCC	0.672													3	20					0	0	1	0	0	T	64565028	C	T	64565028	3	4	69	1	0	0	0	0	1	0	0	0	324	652	23	2	211	2	ADO	10	64565028	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		64565028	70969719	6	1237											
C12orf45	121053	broad.mit.edu	37	12	105385571	105385571	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:105385571C>G	ENST00000552951.1	+	3	327	c.284C>G	c.(283-285)cCt>cGt	p.P95R	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	95										large_intestine(1)|lung(2)	3						GCTGCACCACCTGGTCGTTTC	0.403													8	62					0	0	1	0	0	G	105385571	C	G	105385571	3	3	69	1	0	0	0	0	1	0	0	0	1697	681	24	5	294	5	C12orf45	12	105385571	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		105385571	28466324	7	1238											
DHX37	57647	broad.mit.edu	37	12	125450247	125450247	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:125450247C>T	ENST00000308736.2	-	13	1800	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	DHX37_ENST00000544745.1_Missense_Mutation_p.D355N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	568	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGTCCAGATCGAGGTCGGAG	0.597													10	13					0	0	1	0	0	T	125450247	C	T	125450247	3	4	69	1	0	0	0	0	1	0	0	0	4538	884	31	2	1831	2	DHX37	12	125450247	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	20064676	125450247	8401648	8	1239											
SHISA2	387914	broad.mit.edu	37	13	26621012	26621012	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr13:26621012G>A	ENST00000319420.3	-	2	582	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	176					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCGTGAGGACGACCCCCGGGA	0.667													35	38					0	0	1	0	0	A	26621012	G	A	26621012	3	1	69	1	0	0	0	0	1	0	0	0	14335	1059	37	2	364	2	SHISA2	13	26621012	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		26621012	88548866	9	1240											
UBR7	55148	broad.mit.edu	37	14	93673726	93673726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:93673726delG	ENST00000013070.6	+	1	326	c.90delG	c.(88-90)ctfs	p.L30fs	RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|UBR7_ENST00000416753.1_5'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	30							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ACGAGGAGCTGGAGAATGAGG	0.706											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	93673726	G	-	93673726	7	5	69	1	0	1	0	1	0	0	0	0	16967	1335	47	0	92	0	UBR7	14	93673726	Frame_Shift_Del	DEL	G	TCGA-RW-A67V-01A-11D-A35D-08		93673726	13675814	10	1241											
WDR20	91833	broad.mit.edu	37	14	102675248	102675248	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:102675248C>G	ENST00000335263.5	+	3	821	c.741C>G	c.(739-741)ttC>ttG	p.F247L	WDR20_ENST00000342702.3_Missense_Mutation_p.F247L|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000424963.2_Missense_Mutation_p.F123L|WDR20_ENST00000322340.5_Intron	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	247										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCGGGTGTTCAACTTTGACT	0.567													21	23					0	0	1	0	0	G	102675248	C	G	102675248	3	3	69	1	0	0	0	0	1	0	0	0	17340	825	29	5	768	5	WDR20	14	102675248	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	9001522	102675248	4674292	11	1242											
KIAA0556	23247	broad.mit.edu	37	16	27752044	27752044	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr16:27752044G>A	ENST00000261588.4	+	15	2445	c.2426G>A	c.(2425-2427)cGg>cAg	p.R809Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	809										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAAGGCCTACGGCATGAGCCA	0.597													15	19					0	0	1	0	0	A	27752044	G	A	27752044	3	1	69	1	0	0	0	0	1	0	0	0	8225	1116	39	2	2484	2	KIAA0556	16	27752044	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		27752044	62602709	12	1243											
TNFSF12-TNFSF13	0	broad.mit.edu	37	17	7452625	7452626	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:7452625_7452626delCC	ENST00000293826.4	+	1	210_211	c.155_156delCC	c.(154-156)gfs	p.A52fs	TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000293825.6_Frame_Shift_Del_p.A52fs	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		52					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				TCGCTGTCCGCCCAGGTGAGGC	0.733													2	4	---	---	---	---						-	7452626	CC	-	7452625	7	5	69	1	0	1	0	1	0	0	0	0	16364	739	26	0	157	0	TNFSF12-TNFSF13	17	7452625	Frame_Shift_Del	DEL	CC	TCGA-RW-A67V-01A-11D-A35D-08		7452625	73742585	13	1244											
C17orf66	256957	broad.mit.edu	37	17	34182738	34182738	+	Missense_Mutation	SNP	C	C	T	rs115744817	byFrequency	TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:34182738C>T	ENST00000311880.2	-	14	1443	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	432							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTGTGGACTGCGGATCCCCAG	0.532													3	41					0	0	1	0	0	T	34182738	C	T	34182738	3	4	69	1	0	0	0	0	1	0	0	0	1883	768	27	1	425	1	C17orf66	17	34182738	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	26730113	34182738	47012472	14	1245											
RAB11B	9230	broad.mit.edu	37	19	8464766	8464766	+	Silent	SNP	A	A	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr19:8464766A>G	ENST00000328024.6	+	2	278	c.60A>G	c.(58-60)tcA>tcG	p.S20S	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	20					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TCGGGGACTCAGGCGTGGGCA	0.647													3	21					0	0	1	0	0	G	8464766	A	G	8464766	2	3	69	1	0	0	0	0	0	0	0	1	12944	175	7	4		4	RAB11B	19	8464766	Silent	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08		8464766	50664217	15	1246											
PGAM4	441531	broad.mit.edu	37	X	77224418	77224418	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562													4	97					0	0	1	0	0	G	77224418	A	G	77224418	3	3	69	1	0	0	0	0	1	0	0	0	11823	159	6	4	50	4	PGAM4	23	77224418	Missense_Mutation	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08		77224418	78046142	16	1247											
COL4A6	1288	broad.mit.edu	37	X	107413898	107413898	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:107413898G>A	ENST00000334504.7	-	35	3667	c.3434C>T	c.(3433-3435)tCt>tTt	p.S1145F	COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F|COL4A6_ENST00000372216.4_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1146	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTGACCAGAAGAACCTGGAAG	0.512									Alport syndrome with Diffuse Leiomyomatosis				5	153					0	0	1	0	0	A	107413898	G	A	107413898	3	1	69	1	0	0	0	0	1	0	0	0	3718	942	33	3	1682	3	COL4A6	23	107413898	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08	30189480	107413898	47856662	17	1248											
AIFM1	9131	broad.mit.edu	37	X	129265714	129265714	+	Silent	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:129265714G>A	ENST00000287295.3	-	14	1739	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000319908.3_Silent_p.P499P|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	503					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACCAACTGTGGGCAAACTAC	0.478													11	175					0	0	1	0	0	A	129265714	G	A	129265714	2	1	69	1	0	0	0	0	0	0	0	1	423	1335	47	3		3	AIFM1	23	129265714	Silent	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08	21851816	129265714	26004846	18	1249											
CASZ1	54897	broad.mit.edu	37	1	10699541	10699541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:10699541delG	ENST00000377022.3	-	21	5055	c.4738delC	c.(4738-4740)acfs	p.H1580fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACCACCGTGTGGCGGCAGCCC	0.697													2	4	---	---	---	---						-	10699541	G	-	10699541	7	5	70	1	0	1	0	1	0	0	0	0	2703	1348	47	0	545	0	CASZ1	1	10699541	Frame_Shift_Del	DEL	G	TCGA-RW-A67W-01A-11D-A35D-08		10699541	238551080	1	1250											
EPB41	2035	broad.mit.edu	37	1	29365807	29365807	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:29365807C>A	ENST00000343067.4	+	11	1632	c.1505C>A	c.(1504-1506)gCg>gAg	p.A502E	EPB41_ENST00000347529.3_Missense_Mutation_p.A467E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E|EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	502	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAATTTCTTGCGCTAGGATCC	0.428													16	70					1.02788e-11	1.06333e-11	1	1	0	A	29365807	C	A	29365807	3	1	70	1	0	0	0	0	1	0	0	0	5179	768	27	5	1543	5	EPB41	1	29365807	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	18666266	29365807	219884814	2	1251											
SRGAP2	23380	broad.mit.edu	37	1	206566110	206566110	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:206566110C>T	ENST00000414007.1	+	2	131	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	184	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CTAAAGGAGGCGGAGAAGCAG	0.557													4	39					0	0	1	0	0	T	206566110	C	T	206566110	3	4	70	1	0	0	0	0	1	0	0	0	15202	768	27	1	301	1	SRGAP2	1	206566110	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	177200303	206566110	42684511	3	1252											
LYST	1130	broad.mit.edu	37	1	235969125	235969125	+	Missense_Mutation	SNP	C	C	T	rs148299757	by1000genomes	TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:235969125C>T	ENST00000389794.3	-	6	3485	c.3311G>A	c.(3310-3312)cGa>cAa	p.R1104Q	LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q|LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1104					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCCAAAAGTCGTATACTTTG	0.428													34	51					0	0	1	0	0	T	235969125	C	T	235969125	3	4	70	1	0	0	0	0	1	0	0	0	9174	884	31	2	8286	2	LYST	1	235969125	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	29403015	235969125	13281496	4	1253											
ILDR1	286676	broad.mit.edu	37	3	121720708	121720708	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr3:121720708G>A	ENST00000273691.3	-	4	488	c.383C>T	c.(382-384)gCa>gTa	p.A128V	ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000344209.5_Missense_Mutation_p.A128V|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	128	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CACGAGATCTGCTCCTACACA	0.517													16	34					0	0	1	0	0	A	121720708	G	A	121720708	3	1	70	1	0	0	0	0	1	0	0	0	7753	1319	46	3	1141	3	ILDR1	3	121720708	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		121720708	76301722	5	1254											
PCDHA1	0	broad.mit.edu	37	5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682													5	160					0	0	1	0	0	T	140167494	C	T	140167494	3	4	70	1	0	0	0	0	1	0	0	0	11566	768	27	1	1621	1	PCDHA1	5	140167494	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		140167494	40747766	6	1255											
NOC3L	64318	broad.mit.edu	37	10	96112725	96112725	+	Silent	SNP	C	C	G			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr10:96112725C>G	ENST00000371361.3	-	7	886	c.786G>C	c.(784-786)ctG>ctC	p.L262L	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L|NOC3L_ENST00000543788.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	262						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATAACTCCATCAGAGAAACAA	0.333													4	242					0	0	1	0	0	G	96112725	C	G	96112725	2	3	70	1	0	0	0	0	0	0	0	1	10561	813	29	5		5	NOC3L	10	96112725	Silent	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		96112725	39422022	7	1256											
IGSF9B	22997	broad.mit.edu	37	11	133790306	133790306	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr11:133790306C>T	ENST00000321016.8	-	18	3544	c.3314G>A	c.(3313-3315)gGc>gAc	p.G1105D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1105	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCGACTTGCCTGCCCAACC	0.706													3	45					0	0	1	0	0	T	133790306	C	T	133790306	3	4	70	1	0	0	0	0	1	0	0	0	7650	739	26	3	743	3	IGSF9B	11	133790306	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		133790306	1216210	8	1257											
MMP15	4324	broad.mit.edu	37	16	58077523	58077523	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:58077523A>G	ENST00000219271.3	+	9	2347	c.1562A>G	c.(1561-1563)aAt>aGt	p.N521S		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	521	Hemopexin-like 4.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCCTGAGCAATGACGCAGGT	0.627													8	11					0	0	1	0	0	G	58077523	A	G	58077523	3	3	70	1	0	0	0	0	1	0	0	0	9702	101	4	4	1596	4	MMP15	16	58077523	Missense_Mutation	SNP	A	TCGA-RW-A67W-01A-11D-A35D-08		58077523	32277230	9	1258											
MLKL	197259	broad.mit.edu	37	16	74725330	74725330	+	Silent	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:74725330C>T	ENST00000308807.7	-	4	1030	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	189							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTGCTCTTGCGGGATCTCCT	0.478													8	245					0	0	1	0	0	T	74725330	C	T	74725330	2	4	70	1	0	0	0	0	0	0	0	1	9667	755	27	1		1	MLKL	16	74725330	Silent	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	16647807	74725330	15629423	10	1259											
USP6	9098	broad.mit.edu	37	17	5074086	5074086	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr17:5074086G>A	ENST00000574788.1	+	36	6060	c.3830G>A	c.(3829-3831)tGt>tAt	p.C1277Y	USP6_ENST00000304328.5_Missense_Mutation_p.C960Y|USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1277					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGAAGCATGTGGCAATGGC	0.522			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								5	93					0	0	1	0	0	A	5074086	G	A	5074086	3	1	70	1	0	0	0	0	1	0	0	0	17146	1377	48	3	3936	3	USP6	17	5074086	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		5074086	76121124	11	1260											
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:38958370G>A	ENST00000355481.4	+	25	3430	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGAGATGCGCGTGGGCTGG	0.627													12	73					0	0	1	0	0	A	38958370	G	A	38958370	3	1	70	1	0	0	0	0	1	0	0	0	13820	1087	38	1	3397	1	RYR1	19	38958370	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		38958370	20170613	12	1261											
ZNF28	7576	broad.mit.edu	37	19	53303977	53303977	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:53303977C>T	ENST00000438150.2	-	2	1855	c.962G>A	c.(961-963)cGt>cAt	p.R321H	ZNF28_ENST00000457749.2_Missense_Mutation_p.R374H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H			P17035	ZNF28_HUMAN	zinc finger protein 28	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGAAGCCTACGATGGCGTGC	0.383													4	172					0	0	1	0	0	T	53303977	C	T	53303977	3	4	70	1	0	0	0	0	1	0	0	0	17871	536	19	1	1039	1	ZNF28	19	53303977	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	14345607	53303977	5825006	13	1262											
ERG	2078	broad.mit.edu	37	21	39817410	39817410	+	Silent	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr21:39817410G>A	ENST00000442448.1	-	4	445	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000417133.2_Silent_p.V58V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000398897.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000288319.7_Silent_p.V51V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	58					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CCTGCTGAGGGACGCGTGGGC	0.562			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								8	65					0	0	1	0	0	A	39817410	G	A	39817410	2	1	70	1	0	0	0	0	0	0	0	1	5250	1161	41	3		3	ERG	21	39817410	Silent	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		39817410	8312485	14	1263											
DEPDC5	9681	broad.mit.edu	37	22	32200859	32200859	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr22:32200859G>A	ENST00000400246.1	+	17	1317	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H			O75140	DEPD5_HUMAN	DEP domain containing 5	392					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTGATTCTCGTCTGGGCGAT	0.453													4	178					0	0	1	0	0	A	32200859	G	A	32200859	3	1	70	1	0	0	0	0	1	0	0	0	4470	1145	40	1	1237	1	DEPDC5	22	32200859	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		32200859	19103707	15	1264											
DDX3X	1654	broad.mit.edu	37	X	41205821	41205821	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chrX:41205821G>A	ENST00000399959.2	+	14	2416	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363										HNSCC(61;0.18)			5	147					0	0	1	0	0	A	41205821	G	A	41205821	3	1	70	1	0	0	0	0	1	0	0	0	4381	1290	45	3	1615	3	DDX3X	23	41205821	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		41205821	114064739	16	1265											
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368													3	59					0	0	1	0	0	T	53692717	C	T	53692717	2	4	71	1	0	0	0	0	0	0	0	1	9244	924	32	3		3	MAGOH	1	53692717	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		53692717	195557904	1	1266											
FLG	2312	broad.mit.edu	37	1	152282306	152282306	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282306G>T	ENST00000368799.1	-	3	5091	c.5056C>A	c.(5056-5058)Cag>Aag	p.Q1686K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1686	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACTGCTGGTGGCGGGAT	0.572									Ichthyosis				7	475					0.00198382	0.00210051	1	1	0	T	152282306	G	T	152282306	3	4	71	1	0	0	0	0	1	0	0	0	5955	1357	47	5	7133	5	FLG	1	152282306	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	98589589	152282306	96968315	2	1267	11	2									
FLG	2312	broad.mit.edu	37	1	152282307	152282307	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282307G>T	ENST00000368799.1	-	3	5090	c.5055C>A	c.(5053-5055)caC>caA	p.H1685Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1685	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTGCTGGTGGCGGGATC	0.567									Ichthyosis				7	473					0.000157383	0.000171691	1	1	0	T	152282307	G	T	152282307	3	4	71	1	0	0	0	0	1	0	0	0	5955	1252	44	5	7134	5	FLG	1	152282307	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	1	152282307	96968314	3	1268	11	2									
LCE2B	26239	broad.mit.edu	37	1	152659492	152659492	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152659492C>A	ENST00000368780.3	+	2	227	c.173C>A	c.(172-174)cCc>cAc	p.P58H	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667													9	199					1.08611e-07	1.26129e-07	1	1	0	A	152659492	C	A	152659492	3	1	71	1	0	0	0	0	1	0	0	0	8705	623	22	5	175	5	LCE2B	1	152659492	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	377185	152659492	96591129	4	1269											
GALNT13	114805	broad.mit.edu	37	2	155102328	155102328	+	Silent	SNP	A	A	G			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:155102328A>G	ENST00000392825.3	+	7	1257	c.690A>G	c.(688-690)aaA>aaG	p.K230K	GALNT13_ENST00000409237.1_Silent_p.K230K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	230						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTGCAGGAAAACGGTTGTCT	0.318													4	99					0	0	1	0	0	G	155102328	A	G	155102328	2	3	71	1	0	0	0	0	0	0	0	1	6251	11	1	4		4	GALNT13	2	155102328	Silent	SNP	A	TCGA-RW-A67X-01A-11D-A35D-08		155102328	88097045	5	1270											
CRYGC	1420	broad.mit.edu	37	2	208993026	208993026	+	Silent	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:208993026C>T	ENST00000282141.3	-	3	463	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622													4	98					0	0	1	0	0	T	208993026	C	T	208993026	2	4	71	1	0	0	0	0	0	0	0	1	3939	726	26	3		3	CRYGC	2	208993026	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	53890698	208993026	34206347	6	1271											
VHL	7428	broad.mit.edu	37	3	10188230	10188231	+	In_Frame_Ins	INS	-	-	ACG			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:10188230_10188231insACG	ENST00000256474.2	+	2	1213_1214	c.373_374insACG	c.(373-375)cga>ACGcga	p.124_125insT	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	124	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAGGGACACACGATGGGCTT	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				40	101	---	---	---	---						ACG	10188231	-	ACG	10188230	7	5	71	1	0	1	1	0	0	0	0	0	17222	478	17	0	379	0	VHL	3	10188230	In_Frame_Ins	INS	-	TCGA-RW-A67X-01A-11D-A35D-08		10188230	187834200	7	1272											
NKTR	4820	broad.mit.edu	37	3	42687435	42687435	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:42687435C>T	ENST00000232978.8	+	17	4545	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1453					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTCATCACCGGAGCCCCAG	0.353													3	22					0	0	1	0	0	T	42687435	C	T	42687435	3	4	71	1	0	0	0	0	1	0	0	0	10495	643	23	2	4419	2	NKTR	3	42687435	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	32499205	42687435	155334995	8	1273											
ZPLD1	131368	broad.mit.edu	37	3	102196341	102196341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:102196341C>A	ENST00000306176.1	+	11	1275	c.1175C>A	c.(1174-1176)tCa>tAa	p.S392*	ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.S376*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	376						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCACTGATATCAGGAATGGTC	0.473													7	202					8.12818e-05	9.14421e-05	1	1	0	A	102196341	C	A	102196341	4	1	71	1	0	0	0	0	0	1	0	0	18263	838	29	5	1217	5	ZPLD1	3	102196341	Nonsense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	59508906	102196341	95826089	9	1274											
ATP11B	23200	broad.mit.edu	37	3	182614548	182614548	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:182614548G>A	ENST00000323116.5	+	26	3303	c.3043G>A	c.(3043-3045)Gta>Ata	p.V1015I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1015					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TACAGTCACAGTAAAGGTATG	0.333													4	109					0	0	1	0	0	A	182614548	G	A	182614548	3	1	71	1	0	0	0	0	1	0	0	0	1119	1029	36	3	3145	3	ATP11B	3	182614548	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	80418207	182614548	15407882	10	1275											
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597													3	2					0	0	1	0	0	G	195505842	T	G	195505842	2	3	71	1	0	0	0	0	0	0	0	1	10026	1567	55	5		5	MUC4	3	195505842	Silent	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08	12891294	195505842	2516588	11	1276											
ADAMTS3	9508	broad.mit.edu	37	4	73280586	73280586	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr4:73280586T>A	ENST00000286657.4	-	4	643	c.607A>T	c.(607-609)Aga>Tga	p.R203*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	203					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAGCTGATCTCTTGTAGACA	0.363													26	151					0	0	1	0	0	A	73280586	T	A	73280586	4	1	71	1	0	0	0	0	0	1	0	0	266	1559	54	5	3086	5	ADAMTS3	4	73280586	Nonsense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		73280586	117873690	12	1277											
SLC9A3	6550	broad.mit.edu	37	5	482200	482200	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr5:482200C>T	ENST00000264938.3	-	8	1438	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	477						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCAGCTTCTCGTTGAGCCGA	0.682													6	24					0	0	1	0	0	T	482200	C	T	482200	3	4	71	1	0	0	0	0	1	0	0	0	14768	893	31	2	1115	2	SLC9A3	5	482200	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		482200	180433060	13	1278											
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438													5	211					0	0	1	0	0	C	105573335	T	C	105573335	3	2	71	1	0	0	0	0	1	0	0	0	1578	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		105573335	65541732	14	1279											
CYP2C9	1559	broad.mit.edu	37	10	96702050	96702050	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr10:96702050G>A	ENST00000260682.6	+	3	445	c.433G>A	c.(433-435)Gtt>Att	p.V145I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	145					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGAGGACCGTGTTCAAGAGGA	0.493													5	162					0	0	1	0	0	A	96702050	G	A	96702050	3	1	71	1	0	0	0	0	1	0	0	0	4191	1377	48	3	443	3	CYP2C9	10	96702050	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08		96702050	38832697	15	1280											
GDPD5	81544	broad.mit.edu	37	11	75160628	75160628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr11:75160628delC	ENST00000526177.1	-	4	1966	c.88delG	c.(88-90)ctfs	p.A30fs	GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.A168fs			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	168					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCTGCCACAGCCCCCACATGC	0.627													2	4	---	---	---	---						-	75160628	C	-	75160628	7	5	71	1	0	1	0	1	0	0	0	0	6369	739	26	0	1355	0	GDPD5	11	75160628	Frame_Shift_Del	DEL	C	TCGA-RW-A67X-01A-11D-A35D-08		75160628	59845888	16	1281											
LRP1	4035	broad.mit.edu	37	12	57554807	57554807	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr12:57554807T>C	ENST00000243077.3	+	13	2577	c.2111T>C	c.(2110-2112)cTa>cCa	p.L704P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	704					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAATGGGCTAAGCCTGGAC	0.617													12	149					0	0	1	0	0	C	57554807	T	C	57554807	3	2	71	1	0	0	0	0	1	0	0	0	8996	1522	53	4	2161	4	LRP1	12	57554807	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		57554807	76297088	17	1282											
KL	9365	broad.mit.edu	37	13	33635727	33635727	+	Silent	SNP	G	G	A	rs36012519	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr13:33635727G>A	ENST00000380099.3	+	4	2519	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	837	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGACATCACGTGGCTCAACT	0.473													22	70					0	0	1	0	0	A	33635727	G	A	33635727	2	1	71	1	0	0	0	0	0	0	0	1	8374	1132	40	1		1	KL	13	33635727	Silent	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08		33635727	81534151	18	1283											
CNTNAP4	85445	broad.mit.edu	37	16	76569593	76569593	+	Silent	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr16:76569593C>T	ENST00000307431.8	+	19	3289	c.2904C>T	c.(2902-2904)tgC>tgT	p.C968C	CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000476707.1_Silent_p.C972C|CNTNAP4_ENST00000377504.4_Silent_p.C920C|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	969	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAAGTTATGCCGCAATGGAG	0.498													3	39					0	0	1	0	0	T	76569593	C	T	76569593	2	4	71	1	0	0	0	0	0	0	0	1	3672	747	26	3		3	CNTNAP4	16	76569593	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		76569593	13785160	19	1284											
TEKT1	83659	broad.mit.edu	37	17	6704168	6704168	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:6704168C>T	ENST00000338694.2	-	7	1076	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	316					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGTCTCCAAGCGCGTATGAGC	0.507											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	161					0	0	1	0	0	T	6704168	C	T	6704168	3	4	71	1	0	0	0	0	1	0	0	0	15811	768	27	1	317	1	TEKT1	17	6704168	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		6704168	74491042	20	1285											
LHX1	3975	broad.mit.edu	37	17	35298029	35298029	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:35298029C>A	ENST00000254457.5	+	3	1931	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	174					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GAATGACGACCAGAACCTGGG	0.642													13	30					1.37285e-15	1.64742e-15	1	1	0	A	35298029	C	A	35298029	3	1	71	1	0	0	0	0	1	0	0	0	8810	595	21	5	530	5	LHX1	17	35298029	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	28593861	35298029	45897181	21	1286											
KRT37	8688	broad.mit.edu	37	17	39578677	39578677	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:39578677T>C	ENST00000225550.3	-	4	741	c.742A>G	c.(742-744)Att>Gtt	p.I248V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	248	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTCCTCAGAATCTTTACTTCC	0.557													4	134					0	0	1	0	0	C	39578677	T	C	39578677	3	2	71	1	0	0	0	0	1	0	0	0	8517	1435	50	4	623	4	KRT37	17	39578677	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08	4280648	39578677	41616533	22	1287											
EVPL	2125	broad.mit.edu	37	17	74005109	74005109	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:74005109C>T	ENST00000301607.3	-	22	4430	c.4177G>A	c.(4177-4179)Ggg>Agg	p.G1393R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1393	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGGCTCCCGCTCAGCCGG	0.692													4	73					0	0	1	0	0	T	74005109	C	T	74005109	3	4	71	1	0	0	0	0	1	0	0	0	5320	652	23	2	1928	2	EVPL	17	74005109	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	34426432	74005109	7190101	23	1288											
ANAPC11	51529	broad.mit.edu	37	17	79857351	79857351	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:79857351C>A	ENST00000357385.3	+	3	479	c.343C>A	c.(343-345)Ctt>Att	p.L115I	ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000572851.2_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCTTGGTGCCTTGACCATTC	0.542													3	47					0.115264	0.118557	1	1	0	A	79857351	C	A	79857351	3	1	71	1	0	0	0	0	1	0	0	0	596	681	24	5	349	5	ANAPC11	17	79857351	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	5852242	79857351	1337859	24	1289											
DCC	1630	broad.mit.edu	37	18	50734159	50734159	+	Silent	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr18:50734159T>C	ENST00000442544.2	+	11	2449	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	DCC_ENST00000581580.1_Silent_p.D266D|DCC_ENST00000412726.1_Silent_p.D459D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	611	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCTACTGATGATATAACAG	0.348													7	299					0	0	1	0	0	C	50734159	T	C	50734159	2	2	71	1	0	0	0	0	0	0	0	1	4305	1461	51	4		4	DCC	18	50734159	Silent	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		50734159	27343089	25	1290											
ZNF70	7621	broad.mit.edu	37	22	24087097	24087097	+	Silent	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr22:24087097T>C	ENST00000341976.3	-	2	691	c.231A>G	c.(229-231)caA>caG	p.Q77Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	77						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGGGATACTTTGATGCTGAA	0.493													22	69					0	0	1	0	0	C	24087097	T	C	24087097	2	2	71	1	0	0	0	0	0	0	0	1	18159	1838	64	4		4	ZNF70	22	24087097	Silent	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		24087097	27217469	26	1291											
ZNF683	257101	broad.mit.edu	37	1	26688343	26688343	+	Silent	SNP	G	G	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:26688343G>T	ENST00000436292.1	-	7	1494	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000374204.1_Silent_p.T438T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGCTGGGTGTGCACCA	0.617													39	47					3.33393e-15	3.73401e-15	1	1	0	T	26688343	G	T	26688343	2	4	72	1	0	0	0	0	0	0	0	1	18146	1219	43	5		5	ZNF683	1	26688343	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		26688343	222562278	1	1292											
HRNR	388697	broad.mit.edu	37	1	152187678	152187678	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:152187678A>G	ENST00000368801.2	-	3	6502	c.6427T>C	c.(6427-6429)Tca>Cca	p.S2143P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2143					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAGATGACTGTCCTGAT	0.587													47	1241					0	0	1	0	0	G	152187678	A	G	152187678	3	3	72	1	0	0	0	0	1	0	0	0	7400	275	10	4	2129	4	HRNR	1	152187678	Missense_Mutation	SNP	A	TCGA-RW-A67Y-01A-11D-A35D-08	125499335	152187678	97062943	2	1293											
ASAP2	8853	broad.mit.edu	37	2	9540191	9540191	+	Silent	SNP	G	G	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:9540191G>T	ENST00000281419.3	+	25	3064	c.2724G>T	c.(2722-2724)ccG>ccT	p.P908P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	908	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.P908P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGCCAACCGAGAGGACCTG	0.517													3	48					1	1	1	1	0	T	9540191	G	T	9540191	2	4	72	1	0	0	0	0	0	0	0	1	1010	1045	37	5		5	ASAP2	2	9540191	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		9540191	233659182	3	1294											
MAP4K3	8491	broad.mit.edu	37	2	39499635	39499635	+	Silent	SNP	G	G	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:39499635G>A	ENST00000263881.3	-	25	2167	c.1843C>T	c.(1843-1845)Cta>Tta	p.L615L	MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000536018.1_Silent_p.L168L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	615	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GATATTGATAGCAAGCAATTG	0.279													44	80					0	0	1	0	0	A	39499635	G	A	39499635	2	1	72	1	0	0	0	0	0	0	0	1	9311	962	34	3		3	MAP4K3	2	39499635	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08	29959444	39499635	203699738	4	1295											
UGT2B17	7367	broad.mit.edu	37	4	69403499	69403499	+	Silent	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:69403499G>C	ENST00000317746.2	-	6	1479	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	479					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGTGGGCTGCGACCCGAAGGT	0.483													97	9					0	0	1	0	0	C	69403499	G	C	69403499	2	2	72	1	0	0	0	0	0	0	0	1	17019	1045	37	5		5	UGT2B17	4	69403499	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		69403499	121750777	5	1296											
USO1	8615	broad.mit.edu	37	4	76721883	76721883	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:76721883C>G	ENST00000538159.1	+	17	1822	c.1822C>G	c.(1822-1824)Cca>Gca	p.P608A	USO1_ENST00000514213.2_Missense_Mutation_p.P584A			O60763	USO1_HUMAN	USO1 vesicle transport factor	599	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCCCAGCCAAACTTTCC	0.353													3	39					0	0	1	0	0	G	76721883	C	G	76721883	3	3	72	1	0	0	0	0	1	0	0	0	17099	739	26	5	1698	5	USO1	4	76721883	Missense_Mutation	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08	7318384	76721883	114432393	6	1297											
MCHR2	84539	broad.mit.edu	37	6	100369004	100369004	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:100369004G>C	ENST00000281806.2	-	6	1149	c.835C>G	c.(835-837)Cag>Gag	p.Q279E	MCHR2_ENST00000445970.1_Missense_Mutation_p.Q279E|MCHR2_ENST00000369212.1_Missense_Mutation_p.Q279E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	279						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTGTGGGCTGTTCCATCTGT	0.473													8	97					0	0	1	0	0	C	100369004	G	C	100369004	3	2	72	1	0	0	0	0	1	0	0	0	9433	1386	48	5	191	5	MCHR2	6	100369004	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		100369004	70746063	7	1298											
TRDN	10345	broad.mit.edu	37	6	123868486	123868486	+	Splice_Site	DEL	T	T	-			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:123868486delT	ENST00000334268.4	-	4	740	c.424_splice	c.e4+1	p.K141_splice	TRDN_ENST00000542443.1_Splice_Site_p.K141_splice|TRDN_ENST00000398178.3_Splice_Site_p.K141_splice|TRDN_ENST00000546248.1_Splice_Site_p.K141_splice			Q13061	TRDN_HUMAN	triadin	141					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACAACTAACCTTTTTTTCTCA	0.249													2	4	---	---	---	---						-	123868486	T	-	123868486	8	5	72	1	0	1	0	1	0	0	1	0	16529	1623	56	0	1918	0	TRDN	6	123868486	Splice_Site	DEL	T	TCGA-RW-A67Y-01A-11D-A35D-08	23499482	123868486	47246581	8	1299											
LMTK2	22853	broad.mit.edu	37	7	97820972	97820972	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr7:97820972G>A	ENST00000297293.5	+	11	1488	c.1195G>A	c.(1195-1197)Gcg>Acg	p.A399T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	399	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAGAGACCCGCGGCTGAAGA	0.507													22	24					0	0	1	0	0	A	97820972	G	A	97820972	3	1	72	1	0	0	0	0	1	0	0	0	8900	1087	38	1	1237	1	LMTK2	7	97820972	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		97820972	61317691	9	1300											
CHRNA6	8973	broad.mit.edu	37	8	42608436	42608436	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr8:42608436T>A	ENST00000276410.2	-	6	1726	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	457						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGCCACGTATTTCCAGTCAT	0.378													4	219					0	0	1	0	0	A	42608436	T	A	42608436	3	1	72	1	0	0	0	0	1	0	0	0	3409	1490	52	5	117	5	CHRNA6	8	42608436	Missense_Mutation	SNP	T	TCGA-RW-A67Y-01A-11D-A35D-08		42608436	103755586	10	1301											
GPR83	10888	broad.mit.edu	37	11	94113423	94113423	+	Silent	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr11:94113423C>T	ENST00000243673.2	-	4	1335	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	GPR83_ENST00000539203.2_Silent_p.K346K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	388						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCCATCATTCTTCTCTGTCC	0.562													15	48					0	0	1	0	0	T	94113423	C	T	94113423	2	4	72	1	0	0	0	0	0	0	0	1	6753	912	32	3		3	GPR83	11	94113423	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		94113423	40893093	11	1302											
ATF7IP	55729	broad.mit.edu	37	12	14599931	14599931	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr12:14599931G>C	ENST00000544627.1	+	6	2283	c.1963G>C	c.(1963-1965)Gcc>Ccc	p.A655P	ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A647P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	647	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCCAAGATAGCCAGGTTAAC	0.269													6	64					0	0	1	0	0	C	14599931	G	C	14599931	3	2	72	1	0	0	0	0	1	0	0	0	1086	971	34	5	1957	5	ATF7IP	12	14599931	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		14599931	119251964	12	1303											
DGKH	160851	broad.mit.edu	37	13	42780271	42780271	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr13:42780271A>G	ENST00000379274.2	+	21	2611	c.2182A>G	c.(2182-2184)Aaa>Gaa	p.K728E	DGKH_ENST00000337343.4_Missense_Mutation_p.K864E|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E|DGKH_ENST00000261491.4_Missense_Mutation_p.K864E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	864					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGGTGGAACTAAAGAGGATGA	0.398													25	22					0	0	1	0	0	G	42780271	A	G	42780271	3	3	72	1	0	0	0	0	1	0	0	0	4498	363	13	4	2672	4	DGKH	13	42780271	Missense_Mutation	SNP	A	TCGA-RW-A67Y-01A-11D-A35D-08		42780271	72389607	13	1304											
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	11					0	0	1	0	0	T	29528441	C	T	29528441	4	4	72	1	0	0	0	0	0	1	0	0	10403	827	29	3	1240	3	NF1	17	29528441	Nonsense_Mutation	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		29528441	51666769	14	1305											
SNRPD2	6633	broad.mit.edu	37	19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)agfs	p.VK36fs	SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544													25	55	---	---	---	---						-	46191721	TGAC	-	46191718	7	5	72	1	0	1	0	1	0	0	0	0	14919	1821	63	0	255	0	SNRPD2	19	46191718	Frame_Shift_Del	DEL	TGAC	TCGA-RW-A67Y-01A-11D-A35D-08		46191718	12937265	15	1306											
TRMT6	51605	broad.mit.edu	37	20	5924293	5924293	+	Silent	SNP	C	C	A	rs138159047		TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr20:5924293C>A	ENST00000203001.2	-	6	709	c.579G>T	c.(577-579)acG>acT	p.T193T	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	193					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TATTTCCCAACGTCAACATCT	0.378													4	177					0.014758	0.0153046	1	1	0	A	5924293	C	A	5924293	2	1	72	1	0	0	0	0	0	0	0	1	16629	523	19	5		5	TRMT6	20	5924293	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		5924293	57101227	16	1307											
FAM155B	27112	broad.mit.edu	37	X	68749682	68749682	+	Silent	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chrX:68749682C>T	ENST00000252338.4	+	3	1344	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	435						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCGGCTCTGCGTCCTTGTTC	0.657													3	48					0	0	1	0	0	T	68749682	C	T	68749682	2	4	72	1	0	0	0	0	0	0	0	1	5496	776	27	1		1	FAM155B	23	68749682	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		68749682	86520878	17	1308											
C1orf177	163747	broad.mit.edu	37	1	55279581	55279581	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:55279581C>T	ENST00000358193.3	+	7	911	c.857C>T	c.(856-858)cCc>cTc	p.P286L	C1orf177_ENST00000371273.3_Missense_Mutation_p.P286L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	286										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCTAAACTTCCCCGAAACCCG	0.473													35	45					0	0	1	0	0	T	55279581	C	T	55279581	3	4	73	1	0	0	0	0	1	0	0	0	2030	623	22	3	883	3	C1orf177	1	55279581	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		55279581	193971040	1	1309											
COL24A1	255631	broad.mit.edu	37	1	86210382	86210382	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:86210382C>T	ENST00000370571.2	-	57	5005	c.4639G>A	c.(4639-4641)Gat>Aat	p.D1547N	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1547	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTAAGTAAATCTTTGCAGATT	0.368													58	39					0	0	1	0	0	T	86210382	C	T	86210382	3	4	73	1	0	0	0	0	1	0	0	0	3706	913	32	3	521	3	COL24A1	1	86210382	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	30930801	86210382	163040239	2	1310											
CD1B	910	broad.mit.edu	37	1	158300810	158300810	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:158300810G>C	ENST00000368168.3	-	2	211	c.104C>G	c.(103-105)tCc>tGc	p.S35C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	35					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTGGTAAAGGACGAGGTCTG	0.493													15	355					0	0	1	0	0	C	158300810	G	C	158300810	3	2	73	1	0	0	0	0	1	0	0	0	2997	1174	41	5	917	5	CD1B	1	158300810	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	72090428	158300810	90949811	3	1311											
ATP1B1	481	broad.mit.edu	37	1	169100776	169100776	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:169100776A>G	ENST00000367816.1	+	7	1424	c.895A>G	c.(895-897)Att>Gtt	p.I299V	ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V|ATP1B1_ENST00000367815.3_Missense_Mutation_p.I299V|ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	299					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGATGTAAAAATTGAAGTTAA	0.368													5	101					0	0	1	0	0	G	169100776	A	G	169100776	3	3	73	1	0	0	0	0	1	0	0	0	1131	101	4	4	917	4	ATP1B1	1	169100776	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	10799966	169100776	80149845	4	1312											
LYST	1130	broad.mit.edu	37	1	235940409	235940409	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:235940409A>G	ENST00000389794.3	-	17	5588	c.5414T>C	c.(5413-5415)cTg>cCg	p.L1805P	LYST_ENST00000389793.2_Missense_Mutation_p.L1805P|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1805					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTCGTGCAGAATGCCTTG	0.353													8	116					0	0	1	0	0	G	235940409	A	G	235940409	3	3	73	1	0	0	0	0	1	0	0	0	9174	188	7	4	6139	4	LYST	1	235940409	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	66839633	235940409	13310212	5	1313											
OR2W5	0	broad.mit.edu	37	1	247654533	247654533	+	RNA	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:247654533G>T	ENST00000522351.1	+	0	164							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGATCTTCTGCATCCTGACC	0.498													19	53					1.00905e-13	1.10515e-13	1	1	0	T	247654533	G	T	247654533	1	4	73	0	1	0	0	0	0	0	0	0	11082	1319	46	5		5	OR2W5	1	247654533	RNA	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	11714124	247654533	1596088	6	1314											
PGM2	55276	broad.mit.edu	37	4	37836301	37836301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr4:37836301delG	ENST00000381967.4	+	3	411	c.311delG	c.(310-312)atfs	p.S104fs	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	104					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATCGTGATCAGTTTTGACGCC	0.338													12	143	---	---	---	---						-	37836301	G	-	37836301	7	5	73	1	0	1	0	1	0	0	0	0	11846	1029	36	0	321	0	PGM2	4	37836301	Frame_Shift_Del	DEL	G	TCGA-RW-A680-01A-11D-A35D-08		37836301	153317975	7	1315											
HCN1	348980	broad.mit.edu	37	5	45262355	45262355	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr5:45262355G>A	ENST00000303230.4	-	8	2398	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	781						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R781R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGACTTCCCGGGTCAGGTTG	0.637													13	43					0	0	1	0	0	A	45262355	G	A	45262355	3	1	73	1	0	0	0	0	1	0	0	0	7037	1115	39	2	335	2	HCN1	5	45262355	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		45262355	135652905	8	1316											
OR2J3	442186	broad.mit.edu	37	6	29080275	29080275	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:29080275T>C	ENST00000377169.1	+	1	608	c.608T>C	c.(607-609)aTg>aCg	p.M203T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGACCCTCATGATCACAAGC	0.473													10	78					0	0	1	0	0	C	29080275	T	C	29080275	3	2	73	1	0	0	0	0	1	0	0	0	11052	1464	51	4	610	4	OR2J3	6	29080275	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08		29080275	142034792	9	1317											
ABCC10	89845	broad.mit.edu	37	6	43415485	43415485	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:43415485C>T	ENST00000244533.3	+	16	4044	c.3685C>T	c.(3685-3687)Cca>Tca	p.P1229S	ABCC10_ENST00000372530.4_Missense_Mutation_p.P1257S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1257						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCGTACCGGCCAGGGCTGCC	0.662													110	127					0	0	1	0	0	T	43415485	C	T	43415485	3	4	73	1	0	0	0	0	1	0	0	0	50	739	26	3	3747	3	ABCC10	6	43415485	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	14335210	43415485	127699582	10	1318											
AKAP12	9590	broad.mit.edu	37	6	151672064	151672064	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:151672064G>A	ENST00000402676.2	+	4	2778	c.2538G>A	c.(2536-2538)gtG>gtA	p.V846V	AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000354675.6_Silent_p.V748V|AKAP12_ENST00000253332.1_Silent_p.V846V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	846					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCCGGCCGTGGTCCCTCTGT	0.557													60	90					0	0	1	0	0	A	151672064	G	A	151672064	2	1	73	1	0	0	0	0	0	0	0	1	445	1335	47	3		3	AKAP12	6	151672064	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	108256579	151672064	19443003	11	1319											
POLD2	5425	broad.mit.edu	37	7	44154459	44154459	+	Silent	SNP	C	C	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:44154459C>G	ENST00000406581.2	-	12	1984	c.1335G>C	c.(1333-1335)ctG>ctC	p.L445L	POLD2_ENST00000223361.3_Silent_p.L431L|POLD2_ENST00000452185.1_Silent_p.L445L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	445					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCTGGCAGGCCAGGCTGCGCA	0.612													10	18					0	0	1	0	0	G	44154459	C	G	44154459	2	3	73	1	0	0	0	0	0	0	0	1	12239	581	21	5		5	POLD2	7	44154459	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		44154459	114984204	12	1320											
ZAN	7455	broad.mit.edu	37	7	100391825	100391825	+	RNA	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:100391825C>T	ENST00000542585.1	+	0	8280				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCCCTTCAGCTGCAGAGCGG	0.637													33	36					0	0	1	0	0	T	100391825	C	T	100391825	1	4	73	0	1	0	0	0	0	0	0	0	17573	796	28	3		3	ZAN	7	100391825	RNA	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	56237366	100391825	58746838	13	1321											
CLCN1	1180	broad.mit.edu	37	7	143018823	143018823	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:143018823A>T	ENST00000343257.2	+	5	665	c.578A>T	c.(577-579)gAa>gTa	p.E193V	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	193					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGAATCCCCGAAATGAAGACA	0.498													50	87					0	0	1	0	0	T	143018823	A	T	143018823	3	4	73	1	0	0	0	0	1	0	0	0	3485	246	9	5	596	5	CLCN1	7	143018823	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	42626998	143018823	16119840	14	1322											
CLVS1	157807	broad.mit.edu	37	8	62370926	62370926	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:62370926C>T	ENST00000519846.1	+	6	1274	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	268	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.P268S(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAATTTTTGCCCTCTGAATT	0.413													4	141					0	0	1	0	0	T	62370926	C	T	62370926	3	4	73	1	0	0	0	0	1	0	0	0	3594	739	26	3	816	3	CLVS1	8	62370926	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		62370926	83993096	15	1323											
PREX2	80243	broad.mit.edu	37	8	68965465	68965465	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:68965465A>C	ENST00000288368.4	+	9	1354	c.1077A>C	c.(1075-1077)gaA>gaC	p.E359D	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	359	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTGAAAGAAAGAGAACGGC	0.378													17	116					0	0	1	0	0	C	68965465	A	C	68965465	3	2	73	1	0	0	0	0	1	0	0	0	12529	11	1	5	1111	5	PREX2	8	68965465	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	6594539	68965465	77398557	16	1324											
RBM12B	389677	broad.mit.edu	37	8	94747087	94747087	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:94747087T>C	ENST00000399300.2	-	3	1765	c.1552A>G	c.(1552-1554)Ata>Gta	p.I518V	RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	518							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTGAGTATATTGGTGGGTCT	0.443													38	120					0	0	1	0	0	C	94747087	T	C	94747087	3	2	73	1	0	0	0	0	1	0	0	0	13166	1493	52	4	1457	4	RBM12B	8	94747087	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08	25781622	94747087	51616935	17	1325											
SVIL	6840	broad.mit.edu	37	10	29840161	29840161	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:29840161A>T	ENST00000375398.2	-	8	641	c.192T>A	c.(190-192)gaT>gaA	p.D64E	SVIL_ENST00000355867.4_Missense_Mutation_p.D64E|SVIL_ENST00000375400.3_Missense_Mutation_p.D64E			O95425	SVIL_HUMAN	supervillin	64	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTAGAGAAGAATCAGAAGTTT	0.458													17	39					0	0	1	0	0	T	29840161	A	T	29840161	3	4	73	1	0	0	0	0	1	0	0	0	15477	98	4	5	6584	5	SVIL	10	29840161	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08		29840161	105694586	18	1326											
RBP3	5949	broad.mit.edu	37	10	48390173	48390173	+	Silent	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:48390173G>T	ENST00000224600.4	-	1	818	c.705C>A	c.(703-705)acC>acA	p.T235T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	235	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACGCCCCTGGTCTGGCTGC	0.667													6	49					0.217242	0.217242	1	1	0	T	48390173	G	T	48390173	2	4	73	1	0	0	0	0	0	0	0	1	13209	1335	47	5		5	RBP3	10	48390173	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	18550012	48390173	87144574	19	1327											
KCNA6	3742	broad.mit.edu	37	12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:4919742G>A	ENST00000433855.1	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)			27	43					0	0	1	0	0	A	4919742	G	A	4919742	3	1	73	1	0	0	0	0	1	0	0	0	8051	1145	40	1	537	1	KCNA6	12	4919742	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		4919742	128932153	20	1328											
KRT74	121391	broad.mit.edu	37	12	52967343	52967343	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:52967343G>A	ENST00000549343.1	-	1	257	c.219C>T	c.(217-219)taC>taT	p.Y73Y	KRT74_ENST00000305620.2_Silent_p.Y73Y			Q7RTS7	K2C74_HUMAN	keratin 74	73	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCTGAAGCCGTAACCTCCAG	0.617													17	43					0	0	1	0	0	A	52967343	G	A	52967343	2	1	73	1	0	0	0	0	0	0	0	1	8530	1140	40	1		1	KRT74	12	52967343	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	48047601	52967343	80884552	21	1329											
SPATA13	221178	broad.mit.edu	37	13	24858319	24858319	+	Silent	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr13:24858319C>T	ENST00000424834.2	+	7	2684	c.2211C>T	c.(2209-2211)aaC>aaT	p.N737N	SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000382095.4_Silent_p.N112N|SPATA13_ENST00000382108.3_Silent_p.N737N|SPATA13_ENST00000409126.1_Silent_p.N34N|SPATA13_ENST00000343003.6_Silent_p.N56N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													4	54					0	0	1	0	0	T	24858319	C	T	24858319	2	4	73	1	0	0	0	0	0	0	0	1	15056	535	19	1		1	SPATA13	13	24858319	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		24858319	90311559	22	1330											
GPR132	29933	broad.mit.edu	37	14	105517581	105517581	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr14:105517581G>A	ENST00000329797.3	-	4	1804	c.893C>T	c.(892-894)aCg>aTg	p.T298M	GPR132_ENST00000539291.2_Missense_Mutation_p.T298M|GPR132_ENST00000392585.2_Missense_Mutation_p.T289M	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	298					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCCGTTCACCGTGGACAGGCA	0.562													13	41					0	0	1	0	0	A	105517581	G	A	105517581	3	1	73	1	0	0	0	0	1	0	0	0	6682	1145	40	1	253	1	GPR132	14	105517581	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		105517581	1831959	23	1331											
PRTG	283659	broad.mit.edu	37	15	56032588	56032605	+	In_Frame_Del	DEL	GCAAGATGAGCTTTTTGA	GCAAGATGAGCTTTTTGA	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA	ENST00000389286.4	-	2	419_436	c.372_389delTCAAAAAGCTCATCTTGC	c.(370-390)agc>ag	p.SQKAHLA124del	PRTG_ENST00000561292.1_In_Frame_Del_p.SQKAHLA124del	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	124	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTGATAAGGCAAGATGAGCTTTTTGACTAAGAATGG	0.372													24	139	---	---	---	---						-	56032605	GCAAGATGAGCTTTTTGA	-	56032588	7	5	73	1	0	1	0	1	0	0	0	0	12687	1203	42	0	3139	0	PRTG	15	56032588	In_Frame_Del	DEL	GCAAGATGAGCTTTTTGA	TCGA-RW-A680-01A-11D-A35D-08		56032588	46498804	24	1332											
IL16	3603	broad.mit.edu	37	15	81575036	81575036	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:81575036T>A	ENST00000394660.2	+	9	1498	c.1138T>A	c.(1138-1140)Tct>Act	p.S380T	IL16_ENST00000302987.4_Missense_Mutation_p.S380T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	380	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAATGCATCTCTGGCATTTT	0.607													5	202					0	0	1	0	0	A	81575036	T	A	81575036	3	1	73	1	0	0	0	0	1	0	0	0	7677	1551	54	5	1168	5	IL16	15	81575036	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08	25542448	81575036	20956356	25	1333											
NOMO2	283820	broad.mit.edu	37	16	18532210	18532210	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:18532210C>T	ENST00000330537.6	-	19	2320	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H|NOMO2_ENST00000381474.3_Missense_Mutation_p.R717H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	717						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTCCTGCCTGCGGGCCTCGAT	0.572													4	147					0	0	1	0	0	T	18532210	C	T	18532210	3	4	73	1	0	0	0	0	1	0	0	0	10579	768	27	1	1713	1	NOMO2	16	18532210	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		18532210	71822543	26	1334											
DNAH3	55567	broad.mit.edu	37	16	20952798	20952798	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:20952798A>G	ENST00000261383.3	-	59	11578	c.11579T>C	c.(11578-11580)gTc>gCc	p.V3860A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3860					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAACTTCATGACCTCTTCCAG	0.478													96	147					0	0	1	0	0	G	20952798	A	G	20952798	3	3	73	1	0	0	0	0	1	0	0	0	4631	275	10	4	786	4	DNAH3	16	20952798	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	2420588	20952798	69401955	27	1335											
G6PC3	92579	broad.mit.edu	37	17	42153351	42153351	+	Silent	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:42153351C>T	ENST00000269097.4	+	6	1212	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	327					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCTGGCCCTCGTGCCCTGGG	0.592													16	152					0	0	1	0	0	T	42153351	C	T	42153351	2	4	73	1	0	0	0	0	0	0	0	1	6180	871	31	2		2	G6PC3	17	42153351	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		42153351	39041859	28	1336											
CD300LB	124599	broad.mit.edu	37	17	72522084	72522084	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:72522084C>T	ENST00000392621.1	-	2	288	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAGGATCTTGCATGTATCCCA	0.542													25	198					0	0	1	0	0	T	72522084	C	T	72522084	3	4	73	1	0	0	0	0	1	0	0	0	3021	710	25	3	444	3	CD300LB	17	72522084	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	30368733	72522084	8673126	29	1337											
MEGF8	1954	broad.mit.edu	37	19	42874925	42874925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:42874925delG	ENST00000334370.4	+	39	7512	c.6877delG	c.(6877-6879)ggfs	p.G2293fs	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Frame_Shift_Del_p.G2360fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2360	Laminin EGF-like 3.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TAACAGCTATGGGGAGAAATG	0.602													2	4	---	---	---	---						-	42874925	G	-	42874925	7	5	73	1	0	1	0	1	0	0	0	0	9513	1348	47	0	7031	0	MEGF8	19	42874925	Frame_Shift_Del	DEL	G	TCGA-RW-A680-01A-11D-A35D-08		42874925	16254058	30	1338											
AURKC	6795	broad.mit.edu	37	19	57743156	57743156	+	Splice_Site	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:57743156G>T	ENST00000302804.7	+	2	290		c.e2+1		AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C						cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		gcccagcCATGTGAGTCCCTT	0.577													10	96					1.76689e-08	1.89017e-08	1	1	0	T	57743156	G	T	57743156	5	4	73	1	0	0	0	0	0	0	1	0	1222	1391	48	5	116	5	AURKC	19	57743156	Splice_Site	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	14868231	57743156	1385827	31	1339											
LCA5L	150082	broad.mit.edu	37	21	40781999	40781999	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr21:40781999G>A	ENST00000358268.2	-	9	1716	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.I396I			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	396										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTATGATCGATGTTTCCTG	0.308													33	64					0	0	1	0	0	A	40781999	G	A	40781999	2	1	73	1	0	0	0	0	0	0	0	1	8696	1048	37	2		2	LCA5L	21	40781999	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		40781999	7347896	32	1340											
RPGR	6103	broad.mit.edu	37	X	38156540	38156540	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:38156540G>T	ENST00000378505.2	-	11	1587	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	RPGR_ENST00000309513.3_Missense_Mutation_p.P409T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000339363.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	471					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATGTTACCTGGTTCCTCTGGC	0.393													7	97					0.0381472	0.0389949	1	1	0	T	38156540	G	T	38156540	3	4	73	1	0	0	0	0	1	0	0	0	13600	1261	44	5	2626	5	RPGR	23	38156540	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		38156540	117114020	33	1341											
ATRX	546	broad.mit.edu	37	X	76855943	76855943	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:76855943G>A	ENST00000373344.5	-	23	5871	c.5657C>T	c.(5656-5658)cCt>cTt	p.P1886L	ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAAACACCAAGGATGAGTCCA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						175	302					0	0	1	0	0	A	76855943	G	A	76855943	3	1	73	1	0	0	0	0	1	0	0	0	1206	1000	35	3	1873	3	ATRX	23	76855943	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	38699403	76855943	78414617	34	1342											
MAGEC1	9947	broad.mit.edu	37	X	140996020	140996020	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:140996020G>T	ENST00000285879.4	+	4	3116	c.2830G>T	c.(2830-2832)Ggc>Tgc	p.G944C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	944	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTACACGGGCTACTTTCC	0.473										HNSCC(15;0.026)			116	161					9.53958e-58	1.07029e-57	1	1	0	T	140996020	G	T	140996020	3	4	73	1	0	0	0	0	1	0	0	0	9230	1232	43	5	2836	5	MAGEC1	23	140996020	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	64140077	140996020	14274540	35	1343											
ACAP3	116983	broad.mit.edu	37	1	1233463	1233463	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:1233463G>A	ENST00000354700.5	-	13	1148	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	316	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GAGCACAGGCGGAGGTCATCC	0.682													3	19					0	0	1	0	0	A	1233463	G	A	1233463	3	1	74	1	0	0	0	0	1	0	0	0	120	1116	39	2	1606	2	ACAP3	1	1233463	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		1233463	248017158	1	1344											
CLCA1	1179	broad.mit.edu	37	1	86934788	86934788	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:86934788A>C	ENST00000234701.3	+	2	485	c.134A>C	c.(133-135)gAa>gCa	p.E45A	CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	45					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATGTGCCAGAAGATGAAACA	0.383													31	0					0	0	1	0	0	C	86934788	A	C	86934788	3	2	74	1	0	0	0	0	1	0	0	0	3480	246	9	5	136	5	CLCA1	1	86934788	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	85701325	86934788	162315833	2	1345											
CSDE1	7812	broad.mit.edu	37	1	115268982	115268985	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:115268982_115268985delTGTT	ENST00000438362.2	-	14	2003_2006	c.1625_1628delAACA	c.(1624-1629)agfs	p.KQ542fs	CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.KQ496fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGGCCTCTGTTTGTCACTAAT	0.397													30	9	---	---	---	---						-	115268985	TGTT	-	115268982	7	5	74	1	0	1	0	1	0	0	0	0	3954	1580	55	0	934	0	CSDE1	1	115268982	Frame_Shift_Del	DEL	TGTT	TCGA-RW-A681-01A-11D-A35D-08	28334194	115268982	133981639	3	1346											
ATP6V1G3	127124	broad.mit.edu	37	1	198498307	198498307	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:198498307T>A	ENST00000309309.7	-	4	238	c.133A>T	c.(133-135)Agg>Tgg	p.R45W	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K29N	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	0					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCGCTTTCCTTTTCCTGAAA	0.254													18	28					0	0	1	0	0	A	198498307	T	A	198498307	3	1	74	1	0	0	0	0	1	0	0	0	1186	1609	56	5	277	5	ATP6V1G3	1	198498307	Missense_Mutation	SNP	T	TCGA-RW-A681-01A-11D-A35D-08	83229325	198498307	50752314	4	1347											
PNPT1	87178	broad.mit.edu	37	2	55900135	55900135	+	Silent	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:55900135T>C	ENST00000447944.2	-	9	845	c.759A>G	c.(757-759)caA>caG	p.Q253Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	253					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATTATTTGTTGGGTATATT	0.388													39	94					0	0	1	0	0	C	55900135	T	C	55900135	2	2	74	1	0	0	0	0	0	0	0	1	12221	1722	60	4		4	PNPT1	2	55900135	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		55900135	187299238	5	1348											
DCAF17	80067	broad.mit.edu	37	2	172306405	172306405	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:172306405A>T	ENST00000375255.3	+	5	802	c.475A>T	c.(475-477)Act>Tct	p.T159S	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	159						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GAGCTGGGACACTCCTCAAGA	0.338													3	43					0	0	1	0	0	T	172306405	A	T	172306405	3	4	74	1	0	0	0	0	1	0	0	0	4293	159	6	5	493	5	DCAF17	2	172306405	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	116406270	172306405	70892968	6	1349											
TTN	7273	broad.mit.edu	37	2	179455966	179455966	+	Silent	SNP	T	T	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:179455966T>A	ENST00000589042.1	-	304	60710	c.60486A>T	c.(60484-60486)gtA>gtT	p.V20162V	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V18521V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18521	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTACGGCTACTGTTTTGC	0.438													55	113					0	0	1	0	0	A	179455966	T	A	179455966	2	1	74	1	0	0	0	0	0	0	0	1	16797	1509	53	5		5	TTN	2	179455966	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08	7149561	179455966	63743407	7	1350											
TTLL3	26140	broad.mit.edu	37	3	9859359	9859359	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr3:9859359C>T	ENST00000547186.1	+	5	562	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000427853.3_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	116					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.P116S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCGGAATTTGCCGTGGTTTGA	0.547													4	160					0	0	1	0	0	T	9859359	C	T	9859359	3	4	74	1	0	0	0	0	1	0	0	0	16790	739	26	3	360	3	TTLL3	3	9859359	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08		9859359	188163071	8	1351											
CTBP1	1487	broad.mit.edu	37	4	1235191	1235191	+	Translation_Start_Site	SNP	G	G	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr4:1235191G>T	ENST00000510568.1	-	0	520				CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000382952.3_De_novo_Start_InFrame|CTBP1_ENST00000515690.1_5'UTR			Q13363	CTBP1_HUMAN	C-terminal binding protein 1						interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		aggatccccaggcagaaCCGC	0.527													23	40					1.22574e-08	1.34831e-08	1	1	0	T	1235191	G	T	1235191	1	4	74	1	0	0	0	0	0	0	0	0	4021	1015	35	5		5	CTBP1	4	1235191	Translation_Start_Site	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		1235191	189919085	9	1352											
PCDHGA8	0	broad.mit.edu	37	5	140773281	140773281	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:140773281A>G	ENST00000398604.2	+	1	901	c.901A>G	c.(901-903)Ata>Gta	p.I301V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGGGGAAATATCAATAGC	0.388													3	85					0	0	1	0	0	G	140773281	A	G	140773281	3	3	74	1	0	0	0	0	1	0	0	0	11607	101	4	4	903	4	PCDHGA8	5	140773281	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08		140773281	40141979	10	1353											
FAM193B	54540	broad.mit.edu	37	5	176952164	176952164	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:176952164C>T	ENST00000329540.5	-	9	3025	c.196G>A	c.(196-198)Gca>Aca	p.A66T	FAM193B_ENST00000514747.1_Missense_Mutation_p.A440T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	116										kidney(1)|large_intestine(3)	4						ACACGATTTGCCTGCTTTAGA	0.577													3	34					0	0	1	0	0	T	176952164	C	T	176952164	3	4	74	1	0	0	0	0	1	0	0	0	5557	739	26	3	1162	3	FAM193B	5	176952164	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	36178883	176952164	3963096	11	1354											
COL12A1	1303	broad.mit.edu	37	6	75811733	75811733	+	Silent	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr6:75811733T>C	ENST00000322507.8	-	57	8760	c.8451A>G	c.(8449-8451)ccA>ccG	p.P2817P	COL12A1_ENST00000345356.6_Silent_p.P1653P|COL12A1_ENST00000416123.2_Silent_p.P2741P|COL12A1_ENST00000483888.2_Silent_p.P2817P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2817	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGAAGTCCTGGCTCTCCAG	0.458													4	150					0	0	1	0	0	C	75811733	T	C	75811733	2	2	74	1	0	0	0	0	0	0	0	1	3692	1567	55	4		4	COL12A1	6	75811733	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		75811733	95303334	12	1355											
ABCA13	154664	broad.mit.edu	37	7	48314395	48314395	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:48314395G>T	ENST00000435803.1	+	17	5156	c.5132G>T	c.(5131-5133)gGc>gTc	p.G1711V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1711					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCTTGTTGGCTTGATGGAA	0.393													16	65					2.5808e-16	2.91167e-16	1	1	0	T	48314395	G	T	48314395	3	4	74	1	0	0	0	0	1	0	0	0	31	1203	42	5	5027	5	ABCA13	7	48314395	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		48314395	110824268	13	1356											
ZNF394	84124	broad.mit.edu	37	7	99091213	99091213	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:99091213C>T	ENST00000337673.6	-	3	1828	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	542					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTTTGGTGTCGGATAAGGTG	0.463													75	81					0	0	1	0	0	T	99091213	C	T	99091213	3	4	74	1	0	0	0	0	1	0	0	0	17937	884	31	2	64	2	ZNF394	7	99091213	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	50776818	99091213	60047450	14	1357											
SVOPL	136306	broad.mit.edu	37	7	138313042	138313042	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:138313042C>A	ENST00000421622.1	-	7	778	c.570G>T	c.(568-570)ttG>ttT	p.L190F	SVOPL_ENST00000419765.3_Missense_Mutation_p.L310F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F			Q8N434	SVOPL_HUMAN	SVOP-like	310						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACCACAGACCAAGTCCCGCT	0.562													17	23					5.01169e-05	5.3784e-05	1	1	0	A	138313042	C	A	138313042	3	1	74	1	0	0	0	0	1	0	0	0	15480	593	21	5	572	5	SVOPL	7	138313042	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	39221829	138313042	20825621	15	1358											
DIP2C	22982	broad.mit.edu	37	10	445145	445145	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:445145G>C	ENST00000280886.6	-	10	1251	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	388						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATTGTTGGGGAACACCAGTG	0.617													21	36					0	0	1	0	0	C	445145	G	C	445145	3	2	74	1	0	0	0	0	1	0	0	0	4557	1165	41	5	3618	5	DIP2C	10	445145	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		445145	135089602	16	1359											
SLIT1	6585	broad.mit.edu	37	10	98808821	98808821	+	Silent	SNP	G	G	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:98808821G>A	ENST00000266058.4	-	14	1601	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D452D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	452	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCGCAGGAAGTCTGCCAGCC	0.582													9	57					0	0	1	0	0	A	98808821	G	A	98808821	2	1	74	1	0	0	0	0	0	0	0	1	14793	1020	36	3		3	SLIT1	10	98808821	Silent	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	98363676	98808821	36725926	17	1360											
WDR11	55717	broad.mit.edu	37	10	122619631	122619631	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:122619631G>C	ENST00000263461.6	+	4	609	c.363G>C	c.(361-363)tgG>tgC	p.W121C		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	121						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTTCAGTGGTTGTGGAATC	0.428													32	87					0	0	1	0	0	C	122619631	G	C	122619631	3	2	74	1	0	0	0	0	1	0	0	0	17333	1270	44	5	377	5	WDR11	10	122619631	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	23810810	122619631	12915116	18	1361											
DCDC1	341019	broad.mit.edu	37	11	31086025	31086025	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr11:31086025G>C	ENST00000597505.1	-	18	2581	c.2582C>G	c.(2581-2583)tCt>tGt	p.S861C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTGAGCAGAAGCCTTAGG	0.438													42	38					0	0	1	0	0	C	31086025	G	C	31086025	3	2	74	1	0	0	0	0	1	0	0	0	4307	957	33	5		5	DCDC1	11	31086025	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		31086025	103920491	19	1362											
SPTBN2	6712	broad.mit.edu	37	11	66457285	66457285	+	Silent	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr11:66457285C>A	ENST00000533211.1	-	29	6271	c.5940G>T	c.(5938-5940)gcG>gcT	p.A1980A	SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCCTCGGCCGCATAGTGGC	0.602													53	1					4.88482e-21	5.65611e-21	1	1	0	A	66457285	C	A	66457285	2	1	74	1	0	0	0	0	0	0	0	1	15176	639	23	5		5	SPTBN2	11	66457285	Silent	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	35371260	66457285	68549231	20	1363											
TAS2R8	50836	broad.mit.edu	37	12	10959260	10959260	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:10959260T>C	ENST00000240615.2	-	1	632	c.320A>G	c.(319-321)tAt>tGt	p.Y107C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	107					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTTCAGAAAATAGAAGACATT	0.383													37	35					0	0	1	0	0	C	10959260	T	C	10959260	3	2	74	1	0	0	0	0	1	0	0	0	15644	1406	49	4	612	4	TAS2R8	12	10959260	Missense_Mutation	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		10959260	122892635	21	1364											
CCDC64	92558	broad.mit.edu	37	12	120510313	120510313	+	Splice_Site	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:120510313A>G	ENST00000397558.2	+	6	1089		c.e6-1		CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64						Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGTGGAACAGCTGAGACTG	0.502													25	58					0	0	1	0	0	G	120510313	A	G	120510313	5	3	74	1	0	0	0	0	0	0	1	0	2855	202	7	4	1110	4	CCDC64	12	120510313	Splice_Site	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	109551053	120510313	13341582	22	1365											
POMT2	29954	broad.mit.edu	37	14	77751945	77751945	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr14:77751945G>A	ENST00000261534.4	-	13	1565	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	455	MIR 2.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACCTCAATCCGCCAGAAATCA	0.443													5	563					0	0	1	0	0	A	77751945	G	A	77751945	3	1	74	1	0	0	0	0	1	0	0	0	12294	1086	38	1	925	1	POMT2	14	77751945	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		77751945	29597595	23	1366											
TAOK2	9344	broad.mit.edu	37	16	29989145	29989146	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:29989145_29989146delCT	ENST00000308893.4	+	2	1095_1096	c.52_53delCT	c.(52-54)cfs	p.L18fs	TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	18					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGGCTGAGCTCTTCTTCAAG	0.609													44	38	---	---	---	---						-	29989146	CT	-	29989145	7	5	74	1	0	1	0	1	0	0	0	0	15605	797	28	0	54	0	TAOK2	16	29989145	Frame_Shift_Del	DEL	CT	TCGA-RW-A681-01A-11D-A35D-08		29989145	60365608	24	1367											
TERF2	7014	broad.mit.edu	37	16	69404385	69404385	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:69404385C>T	ENST00000567296.2	-	5	857	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	TERF2_ENST00000254942.3_Splice_Site|TERF2_ENST00000603068.1_Splice_Site|TERF2_ENST00000569611.2_Splice_Site			Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	239					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCAAGGCGCACCGTGAGGAGG	0.512													3	53					0	0	1	0	0	T	69404385	C	T	69404385	3	4	74	1	0	0	0	0	1	0	0	0	15821	521	18	3	811	3	TERF2	16	69404385	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	39415240	69404385	20950368	25	1368											
KRT35	3886	broad.mit.edu	37	17	39637289	39637289	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:39637289C>A	ENST00000393989.1	-	1	103	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	21	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCCCACTGGCCCCTCCTGGG	0.577													13	43					0.00185496	0.0018981	1	1	0	A	39637289	C	A	39637289	3	1	74	1	0	0	0	0	1	0	0	0	8515	739	26	5	1334	5	KRT35	17	39637289	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08		39637289	41557921	26	1369											
KIF2B	84643	broad.mit.edu	37	17	51901892	51901892	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:51901892A>C	ENST00000268919.4	+	1	1654	c.1498A>C	c.(1498-1500)Aca>Cca	p.T500P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	500				T -> A (in Ref. 1; AAK20830).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCAAACTCACACTGGTGCT	0.502													21	18					0	0	1	0	0	C	51901892	A	C	51901892	3	2	74	1	0	0	0	0	1	0	0	0	8340	159	6	5	1500	5	KIF2B	17	51901892	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	12264603	51901892	29293318	27	1370											
UNC13D	201294	broad.mit.edu	37	17	73825012	73825012	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:73825012C>A	ENST00000207549.4	-	31	3386	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L	UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1003	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTCCAGCACGGTGAGCAGG	0.706									Familial Hemophagocytic Lymphohistiocytosis				11	14					0.000978159	0.00102474	1	1	0	A	73825012	C	A	73825012	3	1	74	1	0	0	0	0	1	0	0	0	17047	536	19	5	273	5	UNC13D	17	73825012	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	21923120	73825012	7370198	28	1371											
USP36	57602	broad.mit.edu	37	17	76831368	76831368	+	Missense_Mutation	SNP	G	G	A	rs151065333	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:76831368G>A	ENST00000312010.6	-	4	793	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	USP36_ENST00000542802.2_Missense_Mutation_p.R157C|USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	157					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACAGCTGCGAGCATGCTCC	0.552													4	36					0	0	1	0	0	A	76831368	G	A	76831368	3	1	74	1	0	0	0	0	1	0	0	0	17127	1058	37	2	2970	2	USP36	17	76831368	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	3006356	76831368	4363842	29	1372											
CLEC4M	10332	broad.mit.edu	37	19	7831056	7831056	+	Silent	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr19:7831056A>G	ENST00000327325.5	+	4	865	c.747A>G	c.(745-747)caA>caG	p.Q249Q	CLEC4M_ENST00000248228.4_Silent_p.Q227Q|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000595496.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	249	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAGCAAATCTATCAAG	0.512													62	46					0	0	1	0	0	G	7831056	A	G	7831056	2	3	74	1	0	0	0	0	0	0	0	1	3541	11	1	4		4	CLEC4M	19	7831056	Silent	SNP	A	TCGA-RW-A681-01A-11D-A35D-08		7831056	51297927	30	1373											
ZMYM1	79830	broad.mit.edu	37	1	35579445	35579445	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:35579445G>C	ENST00000373330.1	+	11	2188	c.2014G>C	c.(2014-2016)Gct>Cct	p.A672P	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	672						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCATCAAAGGCTATCTTAAT	0.368													6	25					0	0	1	0	0	C	35579445	G	C	35579445	3	2	75	1	0	0	0	0	1	0	0	0	17757	1203	42	5	2048	5	ZMYM1	1	35579445	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		35579445	213671176	1	1374											
SPTA1	6708	broad.mit.edu	37	1	158582669	158582669	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:158582669C>T	ENST00000368148.3	-	51	7252	c.7072G>A	c.(7072-7074)Gag>Aag	p.E2358K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2355K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2358	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCATTCTCTATTTCATCA	0.468													12	30					0	0	1	0	0	T	158582669	C	T	158582669	3	4	75	1	0	0	0	0	1	0	0	0	15172	922	32	3	195	3	SPTA1	1	158582669	Missense_Mutation	SNP	C	TCGA-RW-A684-01A-12D-A35D-08	123003224	158582669	90667952	2	1375											
XDH	7498	broad.mit.edu	37	2	31573040	31573040	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:31573040T>C	ENST00000379416.3	-	25	2729	c.2681A>G	c.(2680-2682)aAc>aGc	p.N894S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	894					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCCCCGGATGTTGGGGATTTT	0.537													14	58					0	0	1	0	0	C	31573040	T	C	31573040	3	2	75	1	0	0	0	0	1	0	0	0	17486	1725	60	4	1368	4	XDH	2	31573040	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08		31573040	211626333	3	1376											
REV1	51455	broad.mit.edu	37	2	100065882	100065882	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:100065882T>C	ENST00000258428.3	-	4	494	c.266A>G	c.(265-267)cAt>cGt	p.H89R	REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	89	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAATAATATGTGTTGTTTT	0.323								Direct reversal of damage					4	78					0	0	1	0	0	C	100065882	T	C	100065882	3	2	75	1	0	0	0	0	1	0	0	0	13291	1464	51	4	3569	4	REV1	2	100065882	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08	68492842	100065882	143133491	4	1377											
SCN10A	6336	broad.mit.edu	37	3	38781061	38781061	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr3:38781061A>G	ENST00000449082.2	-	14	2224	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	742					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCCAGCTCTAGCAGACTCAC	0.478													17	25					0	0	1	0	0	G	38781061	A	G	38781061	3	3	75	1	0	0	0	0	1	0	0	0	13966	420	15	4	3701	4	SCN10A	3	38781061	Missense_Mutation	SNP	A	TCGA-RW-A684-01A-12D-A35D-08		38781061	159241369	5	1378											
UGT2B4	7363	broad.mit.edu	37	4	70346370	70346370	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:70346370C>T	ENST00000305107.6	-	6	1615	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.K387K|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	523					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTTTCCCCTTCTTTCCTGTTC	0.408													18	83					0	0	1	0	0	T	70346370	C	T	70346370	2	4	75	1	0	0	0	0	0	0	0	1	17021	912	32	3		3	UGT2B4	4	70346370	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		70346370	120807906	6	1379											
ADH4	127	broad.mit.edu	37	4	100047875	100047875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:100047875delT	ENST00000508393.1	-	9	1210	c.1045delA	c.(1045-1047)gtfs	p.S349fs	ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000265512.7_Frame_Shift_Del_p.S330fs			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	330					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GAATCTACACTTTTCCAACCT	0.373													22	52	---	---	---	---						-	100047875	T	-	100047875	7	5	75	1	0	1	0	1	0	0	0	0	309	1609	56	0	162	0	ADH4	4	100047875	Frame_Shift_Del	DEL	T	TCGA-RW-A684-01A-12D-A35D-08	29701505	100047875	91106401	7	1380											
GPR98	84059	broad.mit.edu	37	5	90074890	90074890	+	Missense_Mutation	SNP	T	T	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:90074890T>G	ENST00000405460.2	+	64	13154	c.13058T>G	c.(13057-13059)aTt>aGt	p.I4353S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTCTAACAATTACAAAGGTG	0.423													3	20					0	0	1	0	0	G	90074890	T	G	90074890	3	3	75	1	0	0	0	0	1	0	0	0	6762	1493	52	5	13312	5	GPR98	5	90074890	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08		90074890	90840370	8	1381											
DOCK2	1794	broad.mit.edu	37	5	169454924	169454924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:169454924G>T	ENST00000256935.8	+	34	3519	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1147	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGAGGCGACGAGCAGTACAT	0.517													5	94					0.217242	0.217242	1	1	0	T	169454924	G	T	169454924	4	4	75	1	0	0	0	0	0	1	0	0	4714	1059	37	5	3573	5	DOCK2	5	169454924	Nonsense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08	79380034	169454924	11460336	9	1382											
MAML1	9794	broad.mit.edu	37	5	179193112	179193112	+	Silent	SNP	A	A	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:179193112A>C	ENST00000292599.3	+	2	1364	c.1101A>C	c.(1099-1101)tcA>tcC	p.S367S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	367					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGGCATCAGCCCAGGCCC	0.627													5	44					0	0	1	0	0	C	179193112	A	C	179193112	2	2	75	1	0	0	0	0	0	0	0	1	9255	175	7	5		5	MAML1	5	179193112	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08	9738188	179193112	1722148	10	1383											
TNFAIP3	7128	broad.mit.edu	37	6	138201287	138201287	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								3	36					0	0	1	0	0	T	138201287	C	T	138201287	2	4	75	1	0	0	0	0	0	0	0	1	16334	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		138201287	32913780	11	1384											
RBM33	155435	broad.mit.edu	37	7	155503998	155503998	+	Silent	SNP	G	G	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr7:155503998G>A	ENST00000401878.3	+	8	1248	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCAGCACCCGCACCACCCAT	0.682													3	34					0	0	1	0	0	A	155503998	G	A	155503998	2	1	75	1	0	0	0	0	0	0	0	1	13182	1074	38	1		1	RBM33	7	155503998	Silent	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		155503998	3634665	12	1385											
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr8:38274849G>T	ENST00000341462.5	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000447712.2_Missense_Mutation_p.N546K			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						28	37					8.4185e-14	9.62115e-14	1	1	0	T	38274849	G	T	38274849	3	4	75	1	0	0	0	0	1	0	0	0	5896	1252	44	5	858	5	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		38274849	108089173	13	1386											
TEK	7010	broad.mit.edu	37	9	27180335	27180335	+	Silent	SNP	A	A	G	rs111637971		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:27180335A>G	ENST00000380036.4	+	7	1441	c.999A>G	c.(997-999)ccA>ccG	p.P333P	TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	333	EGF-like 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGCTCTCCAGGATGGCAGG	0.507													9	17					0	0	1	0	0	G	27180335	A	G	27180335	2	3	75	1	0	0	0	0	0	0	0	1	15810	175	7	4		4	TEK	9	27180335	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08		27180335	114033096	14	1387											
TLE1	7088	broad.mit.edu	37	9	84228341	84228341	+	Silent	SNP	A	A	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:84228341A>G	ENST00000376499.3	-	12	2078	c.1014T>C	c.(1012-1014)cgT>cgC	p.R338R	TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.R13R	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	338	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGACCTGGACGGAGGCCTG	0.592													3	45					0	0	1	0	0	G	84228341	A	G	84228341	2	3	75	1	0	0	0	0	0	0	0	1	15998	262	10	4		4	TLE1	9	84228341	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08	57048006	84228341	56985090	15	1388											
FRMD4A	55691	broad.mit.edu	37	10	13712496	13712496	+	Silent	SNP	G	G	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:13712496G>A	ENST00000357447.2	-	17	1652	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	FRMD4A_ENST00000358621.4_Silent_p.P413P|FRMD4A_ENST00000378503.1_Silent_p.P428P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	428						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTGGATCCAGGGGATATTCTA	0.517													19	39					0	0	1	0	0	A	13712496	G	A	13712496	2	1	75	1	0	0	0	0	0	0	0	1	6086	1219	43	3		3	FRMD4A	10	13712496	Silent	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		13712496	121822251	16	1389											
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542													3	54					0	0	1	0	0	C	24669920	T	C	24669920	2	2	75	1	0	0	0	0	0	0	0	1	8258	1596	56	4		4	KIAA1217	10	24669920	Silent	SNP	T	TCGA-RW-A684-01A-12D-A35D-08	10957424	24669920	110864827	17	1390											
STOX1	219736	broad.mit.edu	37	10	70645882	70645882	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:70645882G>A	ENST00000298596.6	+	3	2413	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399169.4_Missense_Mutation_p.R777K|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	777						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGATTGAGAGATCTCTGACC	0.468													4	47					0	0	1	0	0	A	70645882	G	A	70645882	3	1	75	1	0	0	0	0	1	0	0	0	15375	942	33	3	2340	3	STOX1	10	70645882	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08	45975962	70645882	64888865	18	1391											
ARHGEF17	9828	broad.mit.edu	37	11	73074835	73074835	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr11:73074835delA	ENST00000263674.3	+	16	5640	c.5290delA	c.(5290-5292)acfs	p.N1764fs		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1764					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGACCGCAGGAACAGCATGAA	0.602													17	30	---	---	---	---						-	73074835	A	-	73074835	7	5	75	1	0	1	0	1	0	0	0	0	897	246	9	0	5352	0	ARHGEF17	11	73074835	Frame_Shift_Del	DEL	A	TCGA-RW-A684-01A-12D-A35D-08		73074835	61931681	19	1392											
PPFIA2	8499	broad.mit.edu	37	12	81741405	81741405	+	Silent	SNP	C	C	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr12:81741405C>A	ENST00000550584.2	-	17	2434	c.2139G>T	c.(2137-2139)ctG>ctT	p.L713L	PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000548586.1_Silent_p.L713L|PPFIA2_ENST00000549396.1_Silent_p.L713L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000333447.7_Silent_p.L695L|PPFIA2_ENST00000541017.1_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	639										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGAACTGGCCAGCGATGAAG	0.532													8	102					0.00621372	0.00648388	1	1	0	A	81741405	C	A	81741405	2	1	75	1	0	0	0	0	0	0	0	1	12355	581	21	5		5	PPFIA2	12	81741405	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		81741405	52110490	20	1393											
CCDC144B	0	broad.mit.edu	37	17	18498498	18498498	+	RNA	DEL	A	A	-	rs80104188		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr17:18498498delA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TGCAGGCCTGAAAAAAAAAAA	0.244													3	3	---	---	---	---						-	18498498	A	-	18498498	6	5	75	0	1	1	0	1	0	0	0	0	2796	261	9	0		0	CCDC144B	17	18498498	RNA	DEL	A	TCGA-RW-A684-01A-12D-A35D-08		18498498	62696712	21	1394											
EMILIN3	90187	broad.mit.edu	37	20	39990877	39990877	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr20:39990877C>T	ENST00000332312.3	-	4	1524	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	444						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CACCCTCTGTCCCATTGAGCG	0.667													32	56					0	0	1	0	0	T	39990877	C	T	39990877	2	4	75	1	0	0	0	0	0	0	0	1	5123	842	30	3		3	EMILIN3	20	39990877	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		39990877	23034643	22	1395											
SMTN	6525	broad.mit.edu	37	22	31484930	31484930	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr22:31484930C>A	ENST00000333137.7	+	6	664	c.446C>A	c.(445-447)gCg>gAg	p.A149E	SMTN_ENST00000358743.1_Missense_Mutation_p.A149E|SMTN_ENST00000347557.2_Missense_Mutation_p.A149E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	149					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AAGGGGCTAGCGGCACACAGG	0.607											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	27					6.4e-05	6.98182e-05	1	1	0	A	31484930	C	A	31484930	3	1	75	1	0	0	0	0	1	0	0	0	14868	768	27	5	464	5	SMTN	22	31484930	Missense_Mutation	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		31484930	19819636	23	1396											
KDM6A	7403	broad.mit.edu	37	X	44732958	44732958	+	Splice_Site	DEL	G	G	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chrX:44732958delG	ENST00000377967.4	+	1	202	c.161_splice	c.e1+1	p.S54_splice	KDM6A_ENST00000382899.4_Splice_Site_p.S54_splice|KDM6A_ENST00000543216.1_Splice_Site_p.S54_splice|KDM6A_ENST00000536777.1_Splice_Site_p.S54_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	54					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGACTGGACAGGTACGGGCCG	0.731			"D, N, F, S"		"renal, oesophageal SCC, MM"								2	4	---	---	---	---						-	44732958	G	-	44732958	8	5	75	1	0	1	0	1	0	0	1	0	8180	1014	35	0	163	0	KDM6A	23	44732958	Splice_Site	DEL	G	TCGA-RW-A684-01A-12D-A35D-08		44732958	110537602	24	1397											
ACADM	34	broad.mit.edu	37	1	76200505	76200505	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:76200505T>A	ENST00000370841.4	+	6	854	c.417T>A	c.(415-417)gaT>gaA	p.D139E	ACADM_ENST00000370834.5_Missense_Mutation_p.D172E|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000420607.2_Missense_Mutation_p.D143E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	139					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CTGGAAATGATCAACAAAAGA	0.333													3	16					0	0	1	0	0	A	76200505	T	A	76200505	3	1	76	1	0	0	0	0	1	0	0	0	113	1432	50	5	451	5	ACADM	1	76200505	Missense_Mutation	SNP	T	TCGA-RW-A685-01A-11D-A35D-08		76200505	173050116	1	1398											
RORC	0	broad.mit.edu	37	1	151786011	151786011	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:151786011C>T	ENST00000356728.6	-	6	1110	c.956G>A	c.(955-957)gGc>gAc	p.G319D	RORC_ENST00000318247.6_Missense_Mutation_p.G340D|RORC_ENST00000392697.3_Missense_Mutation_p.G394D|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	340	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATAAAGCCTGAGAGCCT	0.602													13	31					0	0	1	0	0	T	151786011	C	T	151786011	3	4	76	1	0	0	0	0	1	0	0	0	13582	739	26	3	557	3	RORC	1	151786011	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	75585506	151786011	97464610	2	1399											
FN1	2335	broad.mit.edu	37	2	216264046	216264046	+	Silent	SNP	G	G	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr2:216264046G>A	ENST00000354785.4	-	21	3651	c.3282C>T	c.(3280-3282)taC>taT	p.Y1094Y	FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000446046.1_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000359671.1_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y			P02751	FINC_HUMAN	fibronectin 1	1094	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCGGTGTTGTAAGGTGGAA	0.428													25	47					0	0	1	0	0	A	216264046	G	A	216264046	2	1	76	1	0	0	0	0	0	0	0	1	5995	1372	48	3		3	FN1	2	216264046	Silent	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		216264046	26935327	3	1400											
APBB2	323	broad.mit.edu	37	4	41015773	41015773	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr4:41015773C>T	ENST00000295974.8	-	6	1291	c.662G>A	c.(661-663)gGc>gAc	p.G221D	APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	221					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCTACTTGGCCGTCTTCAGG	0.567													5	368					0	0	1	0	0	T	41015773	C	T	41015773	3	4	76	1	0	0	0	0	1	0	0	0	757	739	26	3	1669	3	APBB2	4	41015773	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		41015773	150138503	4	1401											
PCDHGC3	0	broad.mit.edu	37	5	140856203	140856203	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr5:140856203C>G	ENST00000308177.3	+	1	624	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTATGAGCTGAGCCGAAA	0.602													12	25					0	0	1	0	0	G	140856203	C	G	140856203	3	3	76	1	0	0	0	0	1	0	0	0	11616	796	28	5	522	5	PCDHGC3	5	140856203	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		140856203	40059057	5	1402											
CUL9	23113	broad.mit.edu	37	6	43167852	43167852	+	Silent	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr6:43167852C>T	ENST00000252050.4	+	14	3426	c.3342C>T	c.(3340-3342)ctC>ctT	p.L1114L	CUL9_ENST00000372647.2_Silent_p.L1114L|CUL9_ENST00000354495.3_Silent_p.L1004L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1114					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACGCACAGCTCTATAGCAACC	0.567													10	27					0	0	1	0	0	T	43167852	C	T	43167852	2	4	76	1	0	0	0	0	0	0	0	1	4084	900	32	3		3	CUL9	6	43167852	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		43167852	127947215	6	1403											
CYP2W1	54905	broad.mit.edu	37	7	1024197	1024197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:1024197delC	ENST00000340150.6	+	2	178	c.156delC	c.(154-156)atfs	p.I52fs	CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.I108fs			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	108					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCCAGCTCATCCAGCGAGGTG	0.721													2	4	---	---	---	---						-	1024197	C	-	1024197	7	5	76	1	0	1	0	1	0	0	0	0	4199	845	30	0	330	0	CYP2W1	7	1024197	Frame_Shift_Del	DEL	C	TCGA-RW-A685-01A-11D-A35D-08		1024197	158114466	7	1404											
POU6F2	11281	broad.mit.edu	37	7	39247055	39247055	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:39247055C>T	ENST00000518318.2	+	4	389	c.347C>T	c.(346-348)gCc>gTc	p.A116V	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.A116V|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	116					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCCCCCAGCCCTCAACCAG	0.577													31	79					0	0	1	0	0	T	39247055	C	T	39247055	3	4	76	1	0	0	0	0	1	0	0	0	12330	739	26	3	361	3	POU6F2	7	39247055	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	38222858	39247055	119891608	8	1405											
KLF10	7071	broad.mit.edu	37	8	103662557	103662557	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr8:103662557G>C	ENST00000395884.3	-	4	2115	c.1213C>G	c.(1213-1215)Ctg>Gtg	p.L405V	KLF10_ENST00000285407.6_Missense_Mutation_p.L416V	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	416					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCTGGACAGTTCATCAGAA	0.478													4	53					0	0	1	0	0	C	103662557	G	C	103662557	3	2	76	1	0	0	0	0	1	0	0	0	8381	1020	36	5	200	5	KLF10	8	103662557	Missense_Mutation	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		103662557	42701465	9	1406											
CDK5RAP2	55755	broad.mit.edu	37	9	123342198	123342198	+	Splice_Site	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr9:123342198C>T	ENST00000349780.4	-	1	238	c.59_splice	c.e1+1	p.S20_splice	CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20_splice	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	20					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCGGCCGCACCTGCAGCCGCT	0.642													7	9					0	0	1	0	0	T	123342198	C	T	123342198	5	4	76	1	0	0	0	0	0	0	1	0	3168	695	24	3	5774	3	CDK5RAP2	9	123342198	Splice_Site	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		123342198	17871233	10	1407											
PRR4	11272	broad.mit.edu	37	12	10999642	10999642	+	Splice_Site	SNP	A	A	G	rs77818542		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:10999642A>G	ENST00000228811.4	-	3	461		c.e3+1		PRR4_ENST00000536668.1_Splice_Site|PRR4_ENST00000540107.1_Splice_Site|PRR4_ENST00000544994.1_Splice_Site	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)						visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CTGGAATCATACCTGCCACTG	0.423													3	67					0	0	1	0	0	G	10999642	A	G	10999642	5	3	76	1	0	0	0	0	0	0	1	0	12649	405	14	4		4	PRR4	12	10999642	Splice_Site	SNP	A	TCGA-RW-A685-01A-11D-A35D-08		10999642	122852253	11	1408											
SCN8A	6334	broad.mit.edu	37	12	52145212	52145212	+	Silent	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:52145212C>T	ENST00000354534.5	+	14	2383	c.2205C>T	c.(2203-2205)tgC>tgT	p.C735C	SCN8A_ENST00000550891.1_Silent_p.C735C|SCN8A_ENST00000545061.1_Silent_p.C735C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	735					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTGGGAGTGCCACCCCTACT	0.443													4	119					0	0	1	0	0	T	52145212	C	T	52145212	2	4	76	1	0	0	0	0	0	0	0	1	13978	747	26	3		3	SCN8A	12	52145212	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	41145570	52145212	81706683	12	1409											
XPOT	11260	broad.mit.edu	37	12	64818384	64818384	+	Silent	SNP	A	A	G			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:64818384A>G	ENST00000332707.5	+	12	1717	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	396					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CATAGGGTGAAGATGAAGCCA	0.418													30	53					0	0	1	0	0	G	64818384	A	G	64818384	2	3	76	1	0	0	0	0	0	0	0	1	17510	69	3	4		4	XPOT	12	64818384	Silent	SNP	A	TCGA-RW-A685-01A-11D-A35D-08	12673172	64818384	69033511	13	1410											
ZFHX3	463	broad.mit.edu	37	16	72829565	72829565	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr16:72829565C>T	ENST00000268489.5	-	9	7688	c.7016G>A	c.(7015-7017)cGc>cAc	p.R2339H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2339					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCAAAGATGCGCTGAAACAC	0.473													4	134					0	0	1	0	0	T	72829565	C	T	72829565	3	4	76	1	0	0	0	0	1	0	0	0	17692	768	27	1	4103	1	ZFHX3	16	72829565	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		72829565	17525188	14	1411											
NF1	4763	broad.mit.edu	37	17	29554565	29554565	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:29554565T>A	ENST00000358273.4	+	20	2733	c.2350T>A	c.(2350-2352)Tgg>Agg	p.W784R	NF1_ENST00000356175.3_Missense_Mutation_p.W784R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	784			W -> C (in NF1).|W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATGCAAAATGGGAACAAGC	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			16	22					0	0	1	0	0	A	29554565	T	A	29554565	3	1	76	1	0	0	0	0	1	0	0	0	10403	1464	51	5	2489	5	NF1	17	29554565	Missense_Mutation	SNP	T	TCGA-RW-A685-01A-11D-A35D-08		29554565	51640645	15	1412											
BIRC5	332	broad.mit.edu	37	17	76212110	76212110	+	Silent	SNP	C	C	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:76212110C>A	ENST00000301633.4	+	3	416	c.285C>A	c.(283-285)atC>atA	p.I95I	BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			gcgggcggatcacgaggtcag	0.562													3	25					0.115264	0.115264	1	1	0	A	76212110	C	A	76212110	2	1	76	1	0	0	0	0	0	0	0	1	1436	816	29	5		5	BIRC5	17	76212110	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	46657545	76212110	4983100	16	1413											
GGT5	2687	broad.mit.edu	37	22	24628063	24628063	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr22:24628063G>T	ENST00000327365.4	-	5	1126	c.710C>A	c.(709-711)aCg>aAg	p.T237K	GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000263112.7_Missense_Mutation_p.T205K|GGT5_ENST00000398292.3_Missense_Mutation_p.T237K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	237					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCCTCCCCGTGTAGAAGAC	0.632													4	6					0.00909568	0.00950912	1	1	0	T	24628063	G	T	24628063	3	4	76	1	0	0	0	0	1	0	0	0	6404	1145	40	5	1085	5	GGT5	22	24628063	Missense_Mutation	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		24628063	26676503	17	1414											
ARHGAP29	9411	broad.mit.edu	37	1	94639989	94639989	+	Silent	SNP	C	C	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388													4	118					0	0	1	0	0	T	94639989	C	T	94639989	2	4	77	1	0	0	0	0	0	0	0	1	875	796	28	3		3	ARHGAP29	1	94639989	Silent	SNP	C	TCGA-RW-A686-01A-11D-A35D-08		94639989	154610632	1	1415											
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:100218011_100218013delGCT	ENST00000317233.4	-	13	1490_1492	c.1255_1257delAGC	c.(1255-1257)del	p.S419del	AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													2	4	---	---	---	---						-	100218013	GCT	-	100218011	7	5	77	1	0	1	0	1	0	0	0	0	357	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-RW-A686-01A-11D-A35D-08		100218011	142981362	2	1416											
ABCA12	26154	broad.mit.edu	37	2	215910616	215910616	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:215910616A>T	ENST00000272895.7	-	7	1036	c.817T>A	c.(817-819)Ttt>Att	p.F273I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	273					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTCTGAAACACATTTGGA	0.358													20	40					0	0	1	0	0	T	215910616	A	T	215910616	3	4	77	1	0	0	0	0	1	0	0	0	30	43	2	5	7189	5	ABCA12	2	215910616	Missense_Mutation	SNP	A	TCGA-RW-A686-01A-11D-A35D-08	115692605	215910616	27288757	3	1417											
CELSR3	1951	broad.mit.edu	37	3	48696931	48696931	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:48696931G>A	ENST00000544264.1	-	1	3417	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1046L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1046	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTCCGGAGTGGGGGCACACC	0.557													76	162					0	0	1	0	0	A	48696931	G	A	48696931	3	1	77	1	0	0	0	0	1	0	0	0	3245	1348	47	3	6941	3	CELSR3	3	48696931	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		48696931	149325499	4	1418											
BSN	8927	broad.mit.edu	37	3	49702234	49702234	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:49702234G>A	ENST00000296452.4	+	10	11857	c.11743G>A	c.(11743-11745)Gtc>Atc	p.V3915I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3915					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTCACAGCTGTCTCTGCTTT	0.542													5	208					0	0	1	0	0	A	49702234	G	A	49702234	3	1	77	1	0	0	0	0	1	0	0	0	1532	1377	48	3	11781	3	BSN	3	49702234	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	1005303	49702234	148320196	5	1419											
FGF5	2250	broad.mit.edu	37	4	81188037	81188037	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr4:81188037C>T	ENST00000456523.3	+	1	245	c.59C>T	c.(58-60)gCt>gTt	p.A20V	FGF5_ENST00000312465.7_Missense_Mutation_p.A20V	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	20					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCGCCTGGGCTCACGGGGAG	0.617													4	65					0	0	1	0	0	T	81188037	C	T	81188037	3	4	77	1	0	0	0	0	1	0	0	0	5888	797	28	3	61	3	FGF5	4	81188037	Missense_Mutation	SNP	C	TCGA-RW-A686-01A-11D-A35D-08		81188037	109966239	6	1420											
ITGB1	3688	broad.mit.edu	37	10	33217043	33217045	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr10:33217043_33217045delTCC	ENST00000396033.2	-	5	659_661	c.524_526delGGA	c.(523-528)att>a	p.RI175del	ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del|ITGB1_ENST00000484088.1_Intron	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	175	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCCGAAGTAATCCTCCTCATTTC	0.355													43	82	---	---	---	---						-	33217045	TCC	-	33217043	7	5	77	1	0	1	0	1	0	0	0	0	7934	1435	50	0	2156	0	ITGB1	10	33217043	In_Frame_Del	DEL	TCC	TCGA-RW-A686-01A-11D-A35D-08		33217043	102317704	7	1421											
SLC47A1	55244	broad.mit.edu	37	17	19458546	19458546	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:19458546G>A	ENST00000270570.4	+	7	651	c.565G>A	c.(565-567)Gta>Ata	p.V189I	SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000571335.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	189						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCCCCAGATCGTAACTGGAGT	0.507													5	260					0	0	1	0	0	A	19458546	G	A	19458546	3	1	77	1	0	0	0	0	1	0	0	0	14702	1145	40	1	591	1	SLC47A1	17	19458546	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		19458546	61736664	8	1422											
MRC2	9902	broad.mit.edu	37	17	60742089	60742089	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:60742089G>A	ENST00000303375.5	+	2	701	c.299G>A	c.(298-300)gGc>gAc	p.G100D		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	100	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCTGGCCAGGCACCAACACC	0.607													24	44					0	0	1	0	0	A	60742089	G	A	60742089	3	1	77	1	0	0	0	0	1	0	0	0	9807	1203	42	3	305	3	MRC2	17	60742089	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	41283543	60742089	20453121	9	1423											
PCK1	5105	broad.mit.edu	37	20	56138155	56138155	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr20:56138155A>T	ENST00000319441.4	+	5	846	c.682A>T	c.(682-684)Atc>Ttc	p.I228F	PCK1_ENST00000535860.1_Missense_Mutation_p.I96F|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	228					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGCAGAGAGATCATCTCCTT	0.612													26	60					0	0	1	0	0	T	56138155	A	T	56138155	3	4	77	1	0	0	0	0	1	0	0	0	11628	333	12	5	696	5	PCK1	20	56138155	Missense_Mutation	SNP	A	TCGA-RW-A686-01A-11D-A35D-08		56138155	6887365	10	1424											
BCR	613	broad.mit.edu	37	22	23523743	23523743	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:23523743G>A	ENST00000305877.8	+	1	1347	c.596G>A	c.(595-597)cGc>cAc	p.R199H	BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	199	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GTGTCGGACCGCATCAGCTCC	0.667			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								4	44					0	0	1	0	0	A	23523743	G	A	23523743	3	1	77	1	0	0	0	0	1	0	0	0	1386	1087	38	1	598	1	BCR	22	23523743	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		23523743	27780823	11	1425											
SEC14L3	266629	broad.mit.edu	37	22	30858116	30858116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:30858116delC	ENST00000403066.1	-	10	834	c.551delG	c.(550-552)gcfs	p.G184fs	SEC14L3_ENST00000215812.4_Frame_Shift_Del_p.G243fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	243	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGTCAGGGTGCCCCCAAACTG	0.507													7	35	---	---	---	---						-	30858116	C	-	30858116	7	5	77	1	0	1	0	1	0	0	0	0	14037	739	26	0	490	0	SEC14L3	22	30858116	Frame_Shift_Del	DEL	C	TCGA-RW-A686-01A-11D-A35D-08	7334373	30858116	20446450	12	1426											
APOL2	23780	broad.mit.edu	37	22	36624072	36624072	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:36624072G>C	ENST00000249066.6	-	6	868	c.392C>G	c.(391-393)aCc>aGc	p.T131S	APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	131					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCCGAGGAGGGTCAGGATGCC	0.582													24	48					0	0	1	0	0	C	36624072	G	C	36624072	3	2	77	1	0	0	0	0	1	0	0	0	803	1261	44	5	625	5	APOL2	22	36624072	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	5765956	36624072	14680494	13	1427											
BAI2	576	broad.mit.edu	37	1	32204531	32204531	+	Silent	SNP	G	G	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204531G>A	ENST00000373658.3	-	16	2844	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L	BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000440175.2_Silent_p.L477L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000373655.2_Silent_p.L835L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	835					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGACGGCCAGCGGGGGCCTG	0.632													27	42					0	0	1	0	0	A	32204531	G	A	32204531	2	1	78	1	0	0	0	0	0	0	0	1	1297	962	34	3		3	BAI2	1	32204531	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		32204531	217046090	1	1428	12	2									
BAI2	576	broad.mit.edu	37	1	32204532	32204532	+	Silent	SNP	C	C	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204532C>T	ENST00000373658.3	-	16	2843	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000440175.2_Silent_p.P476P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000373655.2_Silent_p.P834P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	834					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGACGGCCAGCGGGGGCCTGC	0.637													27	41					0	0	1	0	0	T	32204532	C	T	32204532	2	4	78	1	0	0	0	0	0	0	0	1	1297	755	27	1		1	BAI2	1	32204532	Silent	SNP	C	TCGA-RW-A688-01A-11D-A35D-08	1	32204532	217046089	2	1429	12	2									
MAPKAPK3	7867	broad.mit.edu	37	3	50681871	50681871	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:50681871A>G	ENST00000446044.1	+	8	1132	c.536A>G	c.(535-537)aAa>aGa	p.K179R	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	179	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TCTAAGGAGAAAGACGCAGTG	0.498													3	90					0	0	1	0	0	G	50681871	A	G	50681871	3	3	78	1	0	0	0	0	1	0	0	0	9340	14	1	4	554	4	MAPKAPK3	3	50681871	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		50681871	147340559	3	1430											
RAD54L2	23132	broad.mit.edu	37	3	51697226	51697226	+	Silent	SNP	G	G	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:51697226G>C	ENST00000409535.1	+	22	4319	c.4194G>C	c.(4192-4194)gcG>gcC	p.A1398A	RAD54L2_ENST00000296477.3_Silent_p.A1092A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1398						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGATGTTTGCGCCTTTTCCTT	0.577													49	32					0	0	1	0	0	C	51697226	G	C	51697226	2	2	78	1	0	0	0	0	0	0	0	1	13046	1074	38	5		5	RAD54L2	3	51697226	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08	1015355	51697226	146325204	4	1431											
PHIP	55023	broad.mit.edu	37	6	79675671	79675671	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr6:79675671T>C	ENST00000275034.4	-	28	3475	c.3308A>G	c.(3307-3309)tAc>tGc	p.Y1103C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1103	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCAAACATTGTAGCATTGAAA	0.373													12	84					0	0	1	0	0	C	79675671	T	C	79675671	3	2	78	1	0	0	0	0	1	0	0	0	11890	1638	57	4	2209	4	PHIP	6	79675671	Missense_Mutation	SNP	T	TCGA-RW-A688-01A-11D-A35D-08		79675671	91439396	5	1432											
PDP1	54704	broad.mit.edu	37	8	94934280	94934280	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr8:94934280C>G	ENST00000396200.3	+	3	344	c.68C>G	c.(67-69)tCt>tGt	p.S23C	PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000297598.4_5'UTR|PDP1_ENST00000517764.1_5'UTR	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	0					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACTGTTCTCTGATGCCATG	0.443													13	30					0	0	1	0	0	G	94934280	C	G	94934280	3	3	78	1	0	0	0	0	1	0	0	0	11732	913	32	5	176	5	PDP1	8	94934280	Missense_Mutation	SNP	C	TCGA-RW-A688-01A-11D-A35D-08		94934280	51429742	6	1433											
EHF	26298	broad.mit.edu	37	11	34673125	34673125	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr11:34673125A>G	ENST00000257831.3	+	5	564	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	EHF_ENST00000450654.2_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000533754.1_Missense_Mutation_p.Y148C	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	148					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GACGAGAACTATTTATATGAC	0.428													28	31					0	0	1	0	0	G	34673125	A	G	34673125	3	3	78	1	0	0	0	0	1	0	0	0	5007	449	16	4	457	4	EHF	11	34673125	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		34673125	100333391	7	1434											
MGST1	4257	broad.mit.edu	37	12	16516841	16516841	+	Missense_Mutation	SNP	G	G	A	rs139915404		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:16516841G>A	ENST00000396209.1	+	4	477	c.334G>A	c.(334-336)Gga>Aga	p.G112R	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	112					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	ACTATTTGTCGGAGCACGGAT	0.453													42	74					0	0	1	0	0	A	16516841	G	A	16516841	3	1	78	1	0	0	0	0	1	0	0	0	9609	1117	39	2	344	2	MGST1	12	16516841	Missense_Mutation	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		16516841	117335054	8	1435											
ANAPC7	51434	broad.mit.edu	37	12	110825686	110825686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:110825686delG	ENST00000455511.3	-	5	634	c.634delC	c.(634-636)ttfs	p.L212fs	ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	212					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTACAGAAAGGGACAACAAG	0.473													11	16	---	---	---	---						-	110825686	G	-	110825686	7	5	78	1	0	1	0	1	0	0	0	0	602	1000	35	0	1197	0	ANAPC7	12	110825686	Frame_Shift_Del	DEL	G	TCGA-RW-A688-01A-11D-A35D-08	94308845	110825686	23026209	9	1436											
DENND4A	10260	broad.mit.edu	37	15	65962141	65962141	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr15:65962141A>C	ENST00000443035.3	-	27	4975	c.4760T>G	c.(4759-4761)gTt>gGt	p.V1587G	DENND4A_ENST00000431932.2_Missense_Mutation_p.V1544G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCCCTTGAACAGAGAGAGC	0.338													8	5					0	0	1	0	0	C	65962141	A	C	65962141	3	2	78	1	0	0	0	0	1	0	0	0	4461	43	2	5	988	5	DENND4A	15	65962141	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		65962141	36569251	10	1437											
NF1	4763	broad.mit.edu	37	17	29496993	29496993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:29496993delA	ENST00000358273.4	+	5	947	c.564delA	c.(562-564)gcfs	p.A188fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	188					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGATTGTGCAAAATTAAAAC	0.279			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	7	---	---	---	---						-	29496993	A	-	29496993	7	5	78	1	0	1	0	1	0	0	0	0	10403	117	5	0	582	0	NF1	17	29496993	Frame_Shift_Del	DEL	A	TCGA-RW-A688-01A-11D-A35D-08		29496993	51698217	11	1438											
BPTF	2186	broad.mit.edu	37	17	65850649	65850649	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:65850649C>T	ENST00000321892.4	+	2	1268	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	BPTF_ENST00000335221.5_Missense_Mutation_p.L403F|BPTF_ENST00000424123.3_Missense_Mutation_p.L264F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	403					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGGGATTTGCTTTGCTGTGA	0.453													4	129					0	0	1	0	0	T	65850649	C	T	65850649	3	4	78	1	0	0	0	0	1	0	0	0	1497	797	28	3	1213	3	BPTF	17	65850649	Missense_Mutation	SNP	C	TCGA-RW-A688-01A-11D-A35D-08	36353656	65850649	15344561	12	1439											
RBM42	79171	broad.mit.edu	37	19	36124121	36124121	+	Silent	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr19:36124121G>T	ENST00000262633.4	+	6	756	c.651G>T	c.(649-651)ccG>ccT	p.P217P	RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000360475.4_Silent_p.P188P|RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Silent_p.P188P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	217	Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGGCCCCCGCTGGGCTCCA	0.687													22	31					8.04996e-18	9.96661e-18	1	1	0	T	36124121	G	T	36124121	2	4	78	1	0	0	0	0	0	0	0	1	13188	1074	38	5		5	RBM42	19	36124121	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		36124121	23004862	13	1440											
KRTAP10-3	386682	broad.mit.edu	37	21	45978263	45978263	+	Silent	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr21:45978263G>T	ENST00000391620.1	-	1	380	c.336C>A	c.(334-336)ccC>ccA	p.P112P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tgcagcagacgggcacacagc	0.647													7	125					1.76689e-08	1.99736e-08	1	1	0	T	45978263	G	T	45978263	2	4	78	1	0	0	0	0	0	0	0	1	8553	1103	39	5		5	KRTAP10-3	21	45978263	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		45978263	2151632	14	1441											
TFIP11	24144	broad.mit.edu	37	22	26890809	26890809	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr22:26890809C>A	ENST00000407690.1	-	13	2229	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	649					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCCACCAGGCTAGAGACAGA	0.502													3	32					1	1	1	1	0	A	26890809	C	A	26890809	3	1	78	1	0	0	0	0	1	0	0	0	15867	797	28	5	579	5	TFIP11	22	26890809	Missense_Mutation	SNP	C	TCGA-RW-A688-01A-11D-A35D-08		26890809	24413757	15	1442											
MED12	9968	broad.mit.edu	37	X	70350001	70350001	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:70350001T>A	ENST00000333646.6	+	28	4183	c.3984T>A	c.(3982-3984)caT>caA	p.H1328Q	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000374080.3_Missense_Mutation_p.H1328Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1328					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTATCCACATCGACTGCTGG	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	8					0	0	1	0	0	A	70350001	T	A	70350001	3	1	78	1	0	0	0	0	1	0	0	0	9478	1432	50	5	4094	5	MED12	23	70350001	Missense_Mutation	SNP	T	TCGA-RW-A688-01A-11D-A35D-08		70350001	84920559	16	1443											
ERCC6L	54821	broad.mit.edu	37	X	71425181	71425181	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:71425181G>T	ENST00000373657.1	-	3	3669	c.3067C>A	c.(3067-3069)Cct>Act	p.P1023T	ERCC6L_ENST00000334463.3_Missense_Mutation_p.P1146T|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1146					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTCCGGAAGGATCCTCTTCT	0.502													24	24					6.44725e-10	7.61948e-10	1	1	0	T	71425181	G	T	71425181	3	4	78	1	0	0	0	0	1	0	0	0	5246	1174	41	5	320	5	ERCC6L	23	71425181	Missense_Mutation	SNP	G	TCGA-RW-A688-01A-11D-A35D-08	1075180	71425181	83845379	17	1444											
AMMECR1	9949	broad.mit.edu	37	X	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)del	p.S31del	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68													3	5	---	---	---	---						-	109561209	GGA	-	109561207	7	5	78	1	0	1	0	1	0	0	0	0	574	1219	43	0	932	0	AMMECR1	23	109561207	In_Frame_Del	DEL	GGA	TCGA-RW-A688-01A-11D-A35D-08	38136026	109561207	45709353	18	1445											
SEC22B	9554	broad.mit.edu	37	1	145109547	145109547	+	RNA	SNP	G	G	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:145109547G>T	ENST00000453618.1	+	0	536							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGGGGTGTGTGATTTGGTT	0.403													9	206					0.000274275	0.000274275	1	1	0	T	145109547	G	T	145109547	1	4	79	0	1	0	0	0	0	0	0	0	14043	1377	48	5		5	SEC22B	1	145109547	RNA	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		145109547	104141074	1	1446											
OAZ3	51686	broad.mit.edu	37	1	151739705	151739705	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:151739705C>T	ENST00000315067.8	+	3	265	c.98C>T	c.(97-99)tCc>tTc	p.S33F	OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F|OAZ3_ENST00000321531.5_Missense_Mutation_p.S33F|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'UTR			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	30					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GCTCCTGAGTCCCTAGTAGGC	0.512													7	75					0	0	1	0	0	T	151739705	C	T	151739705	3	4	79	1	0	0	0	0	1	0	0	0	10854	855	30	3	276	3	OAZ3	1	151739705	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	6630158	151739705	97510916	2	1447											
CHRNB2	1141	broad.mit.edu	37	1	154548321	154548321	+	Silent	SNP	C	C	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:154548321C>A	ENST00000368476.3	+	6	1686	c.1422C>A	c.(1420-1422)acC>acA	p.T474T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	474					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCTTTGGCACCATCGGCATGT	0.567													4	95					3.59834e-05	3.73161e-05	1	1	0	A	154548321	C	A	154548321	2	1	79	1	0	0	0	0	0	0	0	1	3413	581	21	5		5	CHRNB2	1	154548321	Silent	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	2808616	154548321	94702300	3	1448											
INPP4A	3631	broad.mit.edu	37	2	99170841	99170841	+	Silent	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr2:99170841G>A	ENST00000074304.5	+	16	1863	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000409016.3_Silent_p.S490S|INPP4A_ENST00000545415.1_Silent_p.S490S|INPP4A_ENST00000523221.1_Silent_p.S490S|INPP4A_ENST00000409463.1_Intron	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	490					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTCCCACTTCGACTGAGGAGG	0.602													10	15					0	0	1	0	0	A	99170841	G	A	99170841	2	1	79	1	0	0	0	0	0	0	0	1	7796	1045	37	2		2	INPP4A	2	99170841	Silent	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		99170841	144028532	4	1449											
CMYA5	202333	broad.mit.edu	37	5	79032506	79032506	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr5:79032506C>G	ENST00000446378.2	+	2	7949	c.7918C>G	c.(7918-7920)Ctt>Gtt	p.L2640V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2640						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCGGTGGCTCTTTCTTGTCG	0.413													15	26					0	0	1	0	0	G	79032506	C	G	79032506	3	3	79	1	0	0	0	0	1	0	0	0	3613	913	32	5	7924	5	CMYA5	5	79032506	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08		79032506	101882754	5	1450											
KLHL7	55975	broad.mit.edu	37	7	23207596	23207596	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr7:23207596G>T	ENST00000322231.7	+	10	1743	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000339077.4_Missense_Mutation_p.G440V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	440						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAAGTTTAGGAAACAATGTT	0.423													25	51					3.01185e-09	3.6666e-09	1	1	0	T	23207596	G	T	23207596	3	4	79	1	0	0	0	0	1	0	0	0	8437	1174	41	5	1416	5	KLHL7	7	23207596	Missense_Mutation	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		23207596	135931067	6	1451											
ANO3	63982	broad.mit.edu	37	11	26677925	26677925	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr11:26677925A>G	ENST00000256737.3	+	26	3512	c.2660A>G	c.(2659-2661)tAc>tGc	p.Y887C	ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C|ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	887						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GATTTCAGGTACAGAGACTAC	0.388													6	73					0	0	1	0	0	G	26677925	A	G	26677925	3	3	79	1	0	0	0	0	1	0	0	0	692	391	14	4	2762	4	ANO3	11	26677925	Missense_Mutation	SNP	A	TCGA-RW-A689-01A-11D-A35D-08		26677925	108328591	7	1452											
BCL2L14	79370	broad.mit.edu	37	12	12240321	12240321	+	Splice_Site	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:12240321G>A	ENST00000266434.4	+	3	802		c.e3+1		BCL2L14_ENST00000589718.1_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site|BCL2L14_ENST00000308721.5_Splice_Site	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)						apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TCTAAGAAAGGTAAGCTTTCC	0.532													5	60					0	0	1	0	0	A	12240321	G	A	12240321	5	1	79	1	0	0	0	0	0	0	1	0	1370	1275	44	3	614	3	BCL2L14	12	12240321	Splice_Site	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		12240321	121611574	8	1453											
RSRC2	65117	broad.mit.edu	37	12	122990196	122990196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:122990196G>A	ENST00000331738.7	-	10	1328	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	395										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTTCCTGCTGCTTCAGAGTC	0.373													33	51					0	0	1	0	0	A	122990196	G	A	122990196	4	1	79	1	0	0	0	0	0	1	0	0	13767	1328	46	3	125	3	RSRC2	12	122990196	Nonsense_Mutation	SNP	G	TCGA-RW-A689-01A-11D-A35D-08	110749875	122990196	10861699	9	1454											
CDT1	81620	broad.mit.edu	37	16	88874571	88874571	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr16:88874571G>C	ENST00000301019.4	+	10	2145	c.1526G>C	c.(1525-1527)tGg>tCg	p.W509S		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	509					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CTGCCGGACTGGCTCAGCCTC	0.672													4	22					0	0	1	0	0	C	88874571	G	C	88874571	3	2	79	1	0	0	0	0	1	0	0	0	3202	1357	47	5	1564	5	CDT1	16	88874571	Missense_Mutation	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		88874571	1480182	10	1455											
NF1	4763	broad.mit.edu	37	17	29588743	29588743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:29588743delT	ENST00000358273.4	+	35	4975	c.4592delT	c.(4591-4593)gtfs	p.V1531fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1531					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATAAAGCTGTTGGAAGACGA	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			46	22	---	---	---	---						-	29588743	T	-	29588743	7	5	79	1	0	1	0	1	0	0	0	0	10403	1725	60	0	4791	0	NF1	17	29588743	Frame_Shift_Del	DEL	T	TCGA-RW-A689-01A-11D-A35D-08		29588743	51606467	11	1456											
WNT9B	7484	broad.mit.edu	37	17	44952701	44952701	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:44952701C>A	ENST00000393461.2	+	3	622	c.569C>A	c.(568-570)gCa>gAa	p.A190E	WNT9B_ENST00000290015.2_Missense_Mutation_p.A190E			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	190					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGGGCACGGGCAGACGCCCAC	0.607													9	11					2.17888e-05	2.44034e-05	1	1	0	A	44952701	C	A	44952701	3	1	79	1	0	0	0	0	1	0	0	0	17459	710	25	5	579	5	WNT9B	17	44952701	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	15363958	44952701	36242509	12	1457											
EMR3	84658	broad.mit.edu	37	19	14752291	14752291	+	Silent	SNP	C	C	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:14752291C>T	ENST00000253673.5	-	10	1288	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	EMR3_ENST00000344373.4_Silent_p.S344S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000443157.2_Silent_p.S270S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	396					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGAGGCAGAGCGAGAGCTGCA	0.587													16	25					0	0	1	0	0	T	14752291	C	T	14752291	2	4	79	1	0	0	0	0	0	0	0	1	5134	755	27	1		1	EMR3	19	14752291	Silent	SNP	C	TCGA-RW-A689-01A-11D-A35D-08		14752291	44376692	13	1458											
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													3	5	---	---	---	---						-	52877717	T	-	52877717	7	5	79	1	0	1	0	1	0	0	0	0	18240	1508	52	0		0	ZNF880	19	52877717	Frame_Shift_Del	DEL	T	TCGA-RW-A689-01A-11D-A35D-08	38125426	52877717	6251266	14	1459											
BIRC6	57448	broad.mit.edu	37	2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388													3	39					0	0	1	0	0	T	32819095	C	T	32819095	3	4	80	1	0	0	0	0	1	0	0	0	1437	710	25	3	13735	3	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		32819095	210380278	1	1460											
SPHKAP	80309	broad.mit.edu	37	2	228883669	228883669	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:228883669C>T	ENST00000392056.3	-	7	1947	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	634						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCAATGCTGCTGTAGGTATT	0.478													44	43					0	0	1	0	0	T	228883669	C	T	228883669	3	4	80	1	0	0	0	0	1	0	0	0	15104	797	28	3	3225	3	SPHKAP	2	228883669	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08	196064574	228883669	14315704	2	1461											
HDAC4	9759	broad.mit.edu	37	2	239988460	239988460	+	Silent	SNP	G	G	A			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:239988460G>A	ENST00000345617.3	-	24	3737	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	HDAC4_ENST00000543185.1_Silent_p.C566C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	982	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCGAGGCGTCGCAAATGGCGG	0.637													4	139					0	0	1	0	0	A	239988460	G	A	239988460	2	1	80	1	0	0	0	0	0	0	0	1	7050	1079	38	1		1	HDAC4	2	239988460	Silent	SNP	G	TCGA-RW-A68A-01A-11D-A35D-08	11104791	239988460	3210913	3	1462											
CCDC69	26112	broad.mit.edu	37	5	150563044	150563044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr5:150563044delG	ENST00000355417.2	-	9	1019	c.845delC	c.(844-846)ctfs	p.P282fs	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	282										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGCCAGAGGGAAGGCAGG	0.642													2	4	---	---	---	---						-	150563044	G	-	150563044	7	5	80	1	0	1	0	1	0	0	0	0	2861	1000	35	0	49	0	CCDC69	5	150563044	Frame_Shift_Del	DEL	G	TCGA-RW-A68A-01A-11D-A35D-08		150563044	30352216	4	1463											
MUC17	140453	broad.mit.edu	37	7	100677614	100677614	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr7:100677614A>C	ENST00000306151.4	+	3	2981	c.2917A>C	c.(2917-2919)Ata>Cta	p.I973L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	973	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTACCAGCATACCAACCTC	0.507													138	735					0	0	1	0	0	C	100677614	A	C	100677614	3	2	80	1	0	0	0	0	1	0	0	0	10022	217	8	5	2927	5	MUC17	7	100677614	Missense_Mutation	SNP	A	TCGA-RW-A68A-01A-11D-A35D-08		100677614	58461049	5	1464											
FBXW2	0	broad.mit.edu	37	9	123550425	123550425	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr9:123550425C>T	ENST00000373926.3	-	3	299	c.112G>A	c.(112-114)Gca>Aca	p.A38T	FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	38					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGCTGGACTGCCCCACTCAGA	0.443													3	65					0	0	1	0	0	T	123550425	C	T	123550425	3	4	80	1	0	0	0	0	1	0	0	0	5799	739	26	3	1276	3	FBXW2	9	123550425	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		123550425	17663006	6	1465											
ZNF365	22891	broad.mit.edu	37	10	64429987	64429987	+	Silent	SNP	T	T	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr10:64429987T>C	ENST00000410046.3	+	8	1595	c.1315T>C	c.(1315-1317)Ttg>Ctg	p.L439L	ZNF365_ENST00000395249.1_Silent_p.L45L|ZNF365_ENST00000395251.1_Silent_p.L193L	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	193										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATCATCGATTTGTTGACTGA	0.428													11	429					0	0	1	0	0	C	64429987	T	C	64429987	2	2	80	1	0	0	0	0	0	0	0	1	17926	1838	64	4		4	ZNF365	10	64429987	Silent	SNP	T	TCGA-RW-A68A-01A-11D-A35D-08		64429987	71104760	7	1466											
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338													3	97					0	0	1	0	0	C	49776572	A	C	49776572	2	2	80	1	0	0	0	0	0	0	0	1	5890	204	8	5		5	FGF7	15	49776572	Silent	SNP	A	TCGA-RW-A68A-01A-11D-A35D-08		49776572	52754820	8	1467											
FAM65C	140876	broad.mit.edu	37	20	49247340	49247340	+	Silent	SNP	G	G	A			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr20:49247340G>A	ENST00000327979.2	-	2	456	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM65C_ENST00000045083.2_Silent_p.A15A|FAM65C_ENST00000535356.1_Silent_p.A19A			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	15										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGACCCCCACGGCCCCTGTGT	0.657													11	14					0	0	1	0	0	A	49247340	G	A	49247340	2	1	80	1	0	0	0	0	0	0	0	1	5636	1103	39	2		2	FAM65C	20	49247340	Silent	SNP	G	TCGA-RW-A68A-01A-11D-A35D-08		49247340	13778180	9	1468											
KRTAP10-12	386685	broad.mit.edu	37	21	46117404	46117404	+	Silent	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr21:46117404C>T	ENST00000400365.3	+	1	318	c.288C>T	c.(286-288)acC>acT	p.T96T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	96	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CTTGCTGCACCTCCTCCCCCT	0.657													37	154					0	0	1	0	0	T	46117404	C	T	46117404	2	4	80	1	0	0	0	0	0	0	0	1	8551	668	24	3		3	KRTAP10-12	21	46117404	Silent	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		46117404	2012491	10	1469											
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368													3	26					0	0	1	0	0	T	53692717	C	T	53692717	2	4	81	1	0	0	0	0	0	0	0	1	9244	924	32	3		3	MAGOH	1	53692717	Silent	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		53692717	195557904	1	1470											
F11R	50848	broad.mit.edu	37	1	160971131	160971131	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:160971131A>G	ENST00000368026.6	-	2	351	c.77T>C	c.(76-78)tTg>tCg	p.L26S	F11R_ENST00000537746.1_Missense_Mutation_p.L26S|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	26					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AACACTGCCCAATGCCAGGGA	0.542													3	39					0	0	1	0	0	G	160971131	A	G	160971131	3	3	81	1	0	0	0	0	1	0	0	0	5366	131	5	4	858	4	F11R	1	160971131	Missense_Mutation	SNP	A	TCGA-RW-A68B-01A-11D-A35D-08	107278414	160971131	88279490	2	1471											
TUBA3E	112714	broad.mit.edu	37	2	130951512	130951512	+	Silent	SNP	C	C	T	rs146523442		TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr2:130951512C>T	ENST00000312988.7	-	4	1003	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	301					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTTGACCATCTGATTGGCTG	0.602													5	126					0	0	1	0	0	T	130951512	C	T	130951512	2	4	81	1	0	0	0	0	0	0	0	1	16810	912	32	3		3	TUBA3E	2	130951512	Silent	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		130951512	112247861	3	1472											
GABBR1	0	broad.mit.edu	37	6	29574694	29574694	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr6:29574694G>A	ENST00000377034.4	-	18	2532	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S|GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	733					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CGGTGCAGAGGGTCCACGATC	0.587													15	33					0	0	1	0	0	A	29574694	G	A	29574694	3	1	81	1	0	0	0	0	1	0	0	0	6190	1232	43	3	712	3	GABBR1	6	29574694	Missense_Mutation	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		29574694	141540373	4	1473											
LRRC43	254050	broad.mit.edu	37	12	122674895	122674895	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr12:122674895G>A	ENST00000339777.4	+	5	909	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	294	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CATCTCTTCCGGGGGCTCAGC	0.667													4	58					0	0	1	0	0	A	122674895	G	A	122674895	3	1	81	1	0	0	0	0	1	0	0	0	9046	1116	39	2	899	2	LRRC43	12	122674895	Missense_Mutation	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		122674895	11177000	5	1474											
FBXO27	126433	broad.mit.edu	37	19	39522616	39522616	+	Silent	SNP	G	G	A			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr19:39522616G>A	ENST00000292853.4	-	2	371	c.252C>T	c.(250-252)caC>caT	p.H84H	FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	84					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCGGGCGAGGTGCAGCAGCG	0.736													3	4					0	0	1	0	0	A	39522616	G	A	39522616	2	1	81	1	0	0	0	0	0	0	0	1	5770	1252	44	3		3	FBXO27	19	39522616	Silent	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		39522616	19606367	6	1475											
LILRB5	0	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													5	19					0	0	1	0	0	G	54754843	A	G	54754843	3	3	81	1	0	0	0	0	1	0	0	0	8834	319	11	4		4	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-RW-A68B-01A-11D-A35D-08	15232227	54754843	4374140	7	1476											
FASTKD5	60493	broad.mit.edu	37	20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393													4	78					0	0	1	0	0	T	3128950	C	T	3128950	3	4	81	1	0	0	0	0	1	0	0	0	5721	768	27	1	1531	1	FASTKD5	20	3128950	Missense_Mutation	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		3128950	59896570	8	1477											
FAM83D	81610	broad.mit.edu	37	20	37555202	37555202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:37555202delG	ENST00000217429.4	+	1	248	c.207delG	c.(205-207)ctfs	p.L69fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	39					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGAGGAGCTGGTGGCGGGCG	0.736													2	4	---	---	---	---						-	37555202	G	-	37555202	7	5	81	1	0	1	0	1	0	0	0	0	5668	1335	47	0	209	0	FAM83D	20	37555202	Frame_Shift_Del	DEL	G	TCGA-RW-A68B-01A-11D-A35D-08	34426252	37555202	25470318	9	1478											
KIAA0754	643314	broad.mit.edu	37	1	39878320	39878320	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:39878320G>A	ENST00000530275.1	+	1	2170	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	659										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGAGGGAGGGGAGATGGA	0.428													5	46					0	0	1	0	0	A	39878320	G	A	39878320	3	1	82	1	0	0	0	0	1	0	0	0	8234	1000	35	3	2385	3	KIAA0754	1	39878320	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		39878320	209372301	1	1479											
VCAM1	7412	broad.mit.edu	37	1	101186144	101186144	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:101186144G>C	ENST00000294728.2	+	2	278	c.177G>C	c.(175-177)tgG>tgC	p.W59C	VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	59	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTCTCTTGGAGAACCCAGA	0.473													5	57					0	0	1	0	0	C	101186144	G	C	101186144	3	2	82	1	0	0	0	0	1	0	0	0	17197	1183	41	5	183	5	VCAM1	1	101186144	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	61307824	101186144	148064477	2	1480											
OLFM3	118427	broad.mit.edu	37	1	102270459	102270459	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:102270459C>T	ENST00000370103.4	-	6	925	c.712G>A	c.(712-714)Gac>Aac	p.D238N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.D258N	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	258	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTATAACTGTCCATGTACCAG	0.373													3	34					0	0	1	0	0	T	102270459	C	T	102270459	3	4	82	1	0	0	0	0	1	0	0	0	10902	855	30	3	668	3	OLFM3	1	102270459	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08	1084315	102270459	146980162	3	1481											
PCYOX1	51449	broad.mit.edu	37	2	70485303	70485303	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr2:70485303C>T	ENST00000433351.2	+	1	35	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	3					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGCCATGGGGCGCGTCGTCGC	0.731													5	10					0	0	1	0	0	T	70485303	C	T	70485303	3	4	82	1	0	0	0	0	1	0	0	0	11655	768	27	1	9	1	PCYOX1	2	70485303	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		70485303	172714070	4	1482											
NDUFA10	4705	broad.mit.edu	37	2	240923039	240923039	+	Silent	SNP	G	G	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr2:240923039G>A	ENST00000307300.4	-	11	1207	c.1185C>T	c.(1183-1185)acC>acT	p.T395T	NDUFA10_ENST00000252711.2_Intron|NDUFA10_ENST00000404554.1_Intron			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	0					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	aggagcccacggtcagggcca	0.562													5	9					0	0	1	0	0	A	240923039	G	A	240923039	2	1	82	1	0	0	0	0	0	0	0	1	10307	1131	39	2		2	NDUFA10	2	240923039	Silent	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	170437736	240923039	2276334	5	1483											
BHLHE40	8553	broad.mit.edu	37	3	5024941	5024941	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr3:5024941G>A	ENST00000256495.3	+	5	1406	c.803G>A	c.(802-804)aGg>aAg	p.R268K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	268						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CACGGACGCAGGTTCACGATG	0.552													4	45					0	0	1	0	0	A	5024941	G	A	5024941	3	1	82	1	0	0	0	0	1	0	0	0	1422	1000	35	3	821	3	BHLHE40	3	5024941	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		5024941	192997489	6	1484											
LARP1	23367	broad.mit.edu	37	5	154183828	154183828	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr5:154183828T>A	ENST00000336314.4	+	14	2300	c.2276T>A	c.(2275-2277)aTg>aAg	p.M759K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	836							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTGGGTGATGGATTCCCGT	0.557													10	77					0	0	1	0	0	A	154183828	T	A	154183828	3	1	82	1	0	0	0	0	1	0	0	0	8667	1464	51	5	2330	5	LARP1	5	154183828	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08		154183828	26731432	7	1485											
PTPRD	5789	broad.mit.edu	37	9	8389380	8389380	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:8389380G>T	ENST00000381196.4	-	34	4781	c.4238C>A	c.(4237-4239)gCc>gAc	p.A1413D	PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1413	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGTAGTTGGCATTCACATA	0.448										TSP Lung(15;0.13)			7	89					8.12818e-05	8.53459e-05	1	1	0	T	8389380	G	T	8389380	3	4	82	1	0	0	0	0	1	0	0	0	12851	1203	42	5	1540	5	PTPRD	9	8389380	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		8389380	132824051	8	1486											
IFNA7	3444	broad.mit.edu	37	9	21202068	21202068	+	Missense_Mutation	SNP	G	G	A	rs140552953	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:21202068G>A	ENST00000239347.3	-	1	136	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTATTACGCAGGCTGTGG	0.512													5	106					0	0	1	0	0	A	21202068	G	A	21202068	3	1	82	1	0	0	0	0	1	0	0	0	7586	1087	38	1	476	1	IFNA7	9	21202068	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	12812688	21202068	120011363	9	1487											
MUC2	4583	broad.mit.edu	37	11	1090952	1090954	+	In_Frame_Del	DEL	ACC	ACC	-	rs72655327		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:1090952_1090954delACC	ENST00000441003.2	+	28	3874_3876	c.3847_3849delACC	c.(3847-3849)del	p.T1288del	MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1288						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cttcaccactaccaccaccacca	0.616													2	4	---	---	---	---						-	1090954	ACC	-	1090952	7	5	82	1	0	1	0	1	0	0	0	0	10023	391	14	0	3957	0	MUC2	11	1090952	In_Frame_Del	DEL	ACC	TCGA-RW-A68C-01A-11D-A35D-08		1090952	133915564	10	1488											
OR8K5	219453	broad.mit.edu	37	11	55926912	55926912	+	Silent	SNP	G	G	A	rs147115733		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:55926912G>A	ENST00000313447.1	-	1	881	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCACCTCTTCGTTTCTTAAGC	0.299													3	36					0	0	1	0	0	A	55926912	G	A	55926912	2	1	82	1	0	0	0	0	0	0	0	1	11292	1136	40	1		1	OR8K5	11	55926912	Silent	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	54835960	55926912	79079604	11	1489											
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318													8	46					0	0	1	0	0	T	37198737	C	T	37198737	3	4	82	1	0	0	0	0	1	0	0	0	14539	855	30	3	623	3	SLC25A21	14	37198737	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		37198737	70150803	12	1490											
ADAM20	8748	broad.mit.edu	37	14	70989875	70989875	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:70989875T>C	ENST00000256389.3	-	2	1994	c.1750A>G	c.(1750-1752)Atc>Gtc	p.I584V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	534	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGGTGTTGATTTCTTGGTAG	0.423													8	87					0	0	1	0	0	C	70989875	T	C	70989875	3	2	82	1	0	0	0	0	1	0	0	0	241	1493	52	4	584	4	ADAM20	14	70989875	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08	33791138	70989875	36359665	13	1491											
KRT39	390792	broad.mit.edu	37	17	39122806	39122806	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr17:39122806T>A	ENST00000355612.2	-	1	338	c.303A>T	c.(301-303)caA>caT	p.Q101H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	101	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGTTCAAGATTTGCATGGTCT	0.443													5	144					0	0	1	0	0	A	39122806	T	A	39122806	3	1	82	1	0	0	0	0	1	0	0	0	8519	1838	64	5	1200	5	KRT39	17	39122806	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08		39122806	42072404	14	1492											
VAV1	7409	broad.mit.edu	37	19	6821671	6821671	+	Silent	SNP	C	C	A	rs141823895	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr19:6821671C>A	ENST00000304076.2	+	3	454	c.360C>A	c.(358-360)atC>atA	p.I120I	VAV1_ENST00000596764.1_Silent_p.I120I|VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000602142.1_Silent_p.I120I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	120					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.I120I(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACCCCGATCGCCCAGAACA	0.627													13	50					3.27435e-08	3.61902e-08	1	1	0	A	6821671	C	A	6821671	2	1	82	1	0	0	0	0	0	0	0	1	17191	874	31	5		5	VAV1	19	6821671	Silent	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		6821671	52307312	15	1493											
EPAS1	2034	broad.mit.edu	37	2	46607406	46607406	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr2:46607406A>G	ENST00000263734.3	+	12	2105	c.1595A>G	c.(1594-1596)tAt>tGt	p.Y532C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	532	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCACCCTATATCCCCATG	0.587													68	65					0	0	1	0	0	G	46607406	A	G	46607406	3	3	83	1	0	0	0	0	1	0	0	0	5178	449	16	4	1641	4	EPAS1	2	46607406	Missense_Mutation	SNP	A	TCGA-RW-A68D-01A-11D-A35D-08		46607406	196591967	1	1494											
SLC30A5	64924	broad.mit.edu	37	5	68412389	68412389	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr5:68412389G>C	ENST00000396591.3	+	10	1851	c.1241G>C	c.(1240-1242)aGt>aCt	p.S414T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	414					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTGAGGAGAGTGACTCTAGG	0.333													14	45					0	0	1	0	0	C	68412389	G	C	68412389	3	2	83	1	0	0	0	0	1	0	0	0	14613	1029	36	5	1367	5	SLC30A5	5	68412389	Missense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08		68412389	112502871	2	1495											
SLC35A4	113829	broad.mit.edu	37	5	139947373	139947373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr5:139947373G>T	ENST00000514199.1	+	2	2305	c.619G>T	c.(619-621)Gag>Tag	p.E207*	SLC35A4_ENST00000323146.3_Nonsense_Mutation_p.E207*|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	207	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTACACAGAGCTGCTCAT	0.577													39	54					6.2361e-21	6.50724e-21	1	1	0	T	139947373	G	T	139947373	4	4	83	1	0	0	0	0	0	1	0	0	14628	943	33	5	621	5	SLC35A4	5	139947373	Nonsense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08	71534984	139947373	40967887	3	1496											
ETV1	2115	broad.mit.edu	37	7	13975516	13975516	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr7:13975516T>C	ENST00000343495.5	-	7	1055	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	ETV1_ENST00000420159.2_Missense_Mutation_p.Y66C|ETV1_ENST00000403527.1_Missense_Mutation_p.Y84C|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405218.2_Missense_Mutation_p.Y124C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.Y106C|ETV1_ENST00000242066.5_Missense_Mutation_p.Y106C|ETV1_ENST00000405358.4_Missense_Mutation_p.Y138C|ETV1_ENST00000430479.1_Missense_Mutation_p.Y124C|ETV1_ENST00000405192.2_Missense_Mutation_p.Y124C			P50549	ETV1_HUMAN	ets variant 1	124					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTGATCATAGGCACTACC	0.443			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								3	43					0	0	1	0	0	C	13975516	T	C	13975516	3	2	83	1	0	0	0	0	1	0	0	0	5305	1406	49	4	1090	4	ETV1	7	13975516	Missense_Mutation	SNP	T	TCGA-RW-A68D-01A-11D-A35D-08		13975516	145163147	4	1497											
C9orf123	0	broad.mit.edu	37	9	7799665	7799665	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr9:7799665C>T	ENST00000358227.4	-	1	402	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	C9orf123_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		24						integral to membrane				lung(1)	1		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		GCAGGTTTGGCGGGCGCGGCG	0.657													3	28					0	0	1	0	0	T	7799665	C	T	7799665	3	4	83	1	0	0	0	0	1	0	0	0	2471	768	27	1	276	1	C9orf123	9	7799665	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		7799665	133413766	5	1498											
FANCC	2176	broad.mit.edu	37	9	97864024	97864024	+	Nonsense_Mutation	SNP	G	G	A	rs104886457		TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr9:97864024G>A	ENST00000289081.3	-	15	1896	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.R548*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	548					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AGGAGCTCTCGGGCCAGTTTT	0.547			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	17					0	0	1	0	0	A	97864024	G	A	97864024	4	1	83	1	0	0	0	0	0	1	0	0	5697	1124	39	2	38	2	FANCC	9	97864024	Nonsense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08	90064359	97864024	43349407	6	1499											
DEPDC7	91614	broad.mit.edu	37	11	33047366	33047366	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr11:33047366C>G	ENST00000311388.3	+	2	584	c.208C>G	c.(208-210)Cta>Gta	p.L70V	DEPDC7_ENST00000241051.3_Missense_Mutation_p.L79V	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	79	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTTTTCTCACCTAATTCAGAA	0.393													7	185					0	0	1	0	0	G	33047366	C	G	33047366	3	3	83	1	0	0	0	0	1	0	0	0	4472	680	24	5	291	5	DEPDC7	11	33047366	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		33047366	101959150	7	1500											
RARG	5916	broad.mit.edu	37	12	53609167	53609167	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr12:53609167C>T	ENST00000425354.2	-	5	872	c.385G>A	c.(385-387)Gac>Aac	p.D129N	RARG_ENST00000394426.1_Missense_Mutation_p.D129N|RARG_ENST00000338561.5_Missense_Mutation_p.D118N|RARG_ENST00000327550.3_Missense_Mutation_p.D57N|RARG_ENST00000543726.1_Missense_Mutation_p.D107N|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	129					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGTTTTTGTCGCGGTGACAC	0.537													4	199					0	0	1	0	0	T	53609167	C	T	53609167	3	4	83	1	0	0	0	0	1	0	0	0	13106	884	31	2	1003	2	RARG	12	53609167	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		53609167	80242728	8	1501											
TIMELESS	8914	broad.mit.edu	37	12	56811930	56811930	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr12:56811930C>T	ENST00000229201.4	-	27	3593	c.3439G>A	c.(3439-3441)Gca>Aca	p.A1147T	TIMELESS_ENST00000554616.1_Missense_Mutation_p.A645T|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A1148T	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1148					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGGGGATGCCAGGCCCGCT	0.542													5	435					0	0	1	0	0	T	56811930	C	T	56811930	3	4	83	1	0	0	0	0	1	0	0	0	15964	739	26	3	196	3	TIMELESS	12	56811930	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	3202763	56811930	77039965	9	1502											
EML5	161436	broad.mit.edu	37	14	89206879	89206879	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr14:89206879C>T	ENST00000554922.1	-	5	811	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	EML5_ENST00000380664.5_Missense_Mutation_p.R188Q|EML5_ENST00000352093.5_Missense_Mutation_p.R188Q	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	188						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGACACCTCGTTTTGGGGT	0.368													5	87					0	0	1	0	0	T	89206879	C	T	89206879	3	4	83	1	0	0	0	0	1	0	0	0	5128	884	31	2	5526	2	EML5	14	89206879	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		89206879	18142661	10	1503											
SQRDL	58472	broad.mit.edu	37	15	45951173	45951173	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr15:45951173T>A	ENST00000260324.7	+	2	438	c.52T>A	c.(52-54)Tgc>Agc	p.C18S	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.C18S|SQRDL_ENST00000568606.1_Missense_Mutation_p.C18S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	18							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCTCTTTGCCTGCCTGCTCAG	0.647													6	4					0	0	1	0	0	A	45951173	T	A	45951173	3	1	83	1	0	0	0	0	1	0	0	0	15185	1580	55	5	54	5	SQRDL	15	45951173	Missense_Mutation	SNP	T	TCGA-RW-A68D-01A-11D-A35D-08		45951173	56580219	11	1504											
IL16	3603	broad.mit.edu	37	15	81591746	81591746	+	Silent	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr15:81591746C>T	ENST00000394660.2	+	14	2439	c.2079C>T	c.(2077-2079)caC>caT	p.H693H	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000560230.1_Intron|IL16_ENST00000302987.4_Silent_p.H693H	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	693					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGATAAAACACCCACTGCTTA	0.438													100	165					0	0	1	0	0	T	81591746	C	T	81591746	2	4	83	1	0	0	0	0	0	0	0	1	7677	506	18	3		3	IL16	15	81591746	Silent	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	35640573	81591746	20939646	12	1505											
SLC43A2	124935	broad.mit.edu	37	17	1531078	1531078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr17:1531078delG	ENST00000571650.1	-	2	397	c.91delC	c.(91-93)tgfs	p.L31fs	SLC43A2_ENST00000382147.4_Frame_Shift_Del_p.L31fs|SLC43A2_ENST00000301335.4_Frame_Shift_Del_p.L31fs			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	31					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCCCAGCCCAGGAGGACTGCC	0.672													2	4	---	---	---	---						-	1531078	G	-	1531078	7	5	83	1	0	1	0	1	0	0	0	0	14688	991	35	0	1670	0	SLC43A2	17	1531078	Frame_Shift_Del	DEL	G	TCGA-RW-A68D-01A-11D-A35D-08		1531078	79664132	13	1506											
CD300LG	146894	broad.mit.edu	37	17	41926251	41926251	+	Silent	SNP	C	C	T			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr17:41926251C>T	ENST00000317310.4	+	2	410	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD300LG_ENST00000539718.1_Silent_p.F123F|CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	123						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTCTCTGTTCGTCTTTCCAG	0.557													20	28					0	0	1	0	0	T	41926251	C	T	41926251	2	4	83	1	0	0	0	0	0	0	0	1	3024	883	31	2		2	CD300LG	17	41926251	Silent	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	40395173	41926251	39268959	14	1507											
ECHDC2	55268	broad.mit.edu	37	1	53377454	53377454	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:53377454C>T	ENST00000371522.4	-	2	223	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K|ECHDC2_ENST00000480312.2_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	44					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCAGAATCTCAGTGATCCCT	0.617													22	15					0	0	1	0	0	T	53377454	C	T	53377454	3	4	84	1	0	0	0	0	1	0	0	0	4920	835	29	3	687	3	ECHDC2	1	53377454	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		53377454	195873167	1	1508											
STXBP3	6814	broad.mit.edu	37	1	109338934	109338934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:109338934delA	ENST00000370008.3	+	14	1239	c.1189delA	c.(1189-1191)aafs	p.K397fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	397					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TCTACTCAACAAAAATCATGA	0.308													19	32	---	---	---	---						-	109338934	A	-	109338934	7	5	84	1	0	1	0	1	0	0	0	0	15410	131	5	0	1243	0	STXBP3	1	109338934	Frame_Shift_Del	DEL	A	TCGA-RW-A68F-01A-11D-A35D-08	55961480	109338934	139911687	2	1509											
NUCKS1	64710	broad.mit.edu	37	1	205687522	205687522	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:205687522T>C	ENST00000367142.4	-	7	920	c.618A>G	c.(616-618)aaA>aaG	p.K206K		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	206	Lys-rich.					nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CATCTTCTTCTTTGGGAGAAG	0.493													93	155					0	0	1	0	0	C	205687522	T	C	205687522	2	2	84	1	0	0	0	0	0	0	0	1	10768	1606	56	4		4	NUCKS1	1	205687522	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08	96348588	205687522	43563099	3	1510											
RNF149	284996	broad.mit.edu	37	2	101893717	101893717	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr2:101893717C>T	ENST00000295317.3	-	7	1293	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGGGTCCTCCATGCCGAGAG	0.458													15	29					0	0	1	0	0	T	101893717	C	T	101893717	3	4	84	1	0	0	0	0	1	0	0	0	13502	603	21	3	20	3	RNF149	2	101893717	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		101893717	141305656	4	1511											
C3orf20	84077	broad.mit.edu	37	3	14745942	14745942	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:14745942G>A	ENST00000253697.3	+	7	1429	c.977G>A	c.(976-978)cGc>cAc	p.R326H	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	326						cytoplasm|integral to membrane		p.R326H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGTTGGCCCGCAAAGGAGAC	0.517													4	122					0	0	1	0	0	A	14745942	G	A	14745942	3	1	84	1	0	0	0	0	1	0	0	0	2227	1087	38	1	995	1	C3orf20	3	14745942	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		14745942	183276488	5	1512											
CCR8	1237	broad.mit.edu	37	3	39374010	39374010	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:39374010G>A	ENST00000326306.4	+	2	326	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	63					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTGTGGTCTGCAAGAAGCTG	0.478													4	161					0	0	1	0	0	A	39374010	G	A	39374010	3	1	84	1	0	0	0	0	1	0	0	0	2969	1319	46	3	190	3	CCR8	3	39374010	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	24628068	39374010	158648420	6	1513											
ZMYND10	51364	broad.mit.edu	37	3	50379081	50379081	+	Missense_Mutation	SNP	G	G	A	rs150467144	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:50379081G>A	ENST00000231749.3	-	11	2443	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	391						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCGGGGCCGCTCTGGAGCC	0.602										TSP Lung(30;0.18)			4	59					0	0	1	0	0	A	50379081	G	A	50379081	3	1	84	1	0	0	0	0	1	0	0	0	17763	1086	38	1	159	1	ZMYND10	3	50379081	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	11005071	50379081	147643349	7	1514											
QRFPR	84109	broad.mit.edu	37	4	122250693	122250693	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr4:122250693G>C	ENST00000394427.2	-	6	1483	c.1072C>G	c.(1072-1074)Cca>Gca	p.P358A	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	358						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTTTGTGCTGGAGAGAAGGTT	0.368													6	140					0	0	1	0	0	C	122250693	G	C	122250693	3	2	84	1	0	0	0	0	1	0	0	0	12930	1174	41	5	227	5	QRFPR	4	122250693	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		122250693	68903583	8	1515											
BDP1	55814	broad.mit.edu	37	5	70757730	70757730	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr5:70757730T>C	ENST00000358731.4	+	3	839	c.576T>C	c.(574-576)taT>taC	p.Y192Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	192	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCATATATTATCTACCAGATA	0.308													8	148					0	0	1	0	0	C	70757730	T	C	70757730	2	2	84	1	0	0	0	0	0	0	0	1	1393	1442	50	4		4	BDP1	5	70757730	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08		70757730	110157530	9	1516											
KIAA0319	9856	broad.mit.edu	37	6	24596193	24596193	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:24596193G>A	ENST00000535378.1	-	4	1324	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCGGCAAGGGAAGCAACACA	0.542													15	64					0	0	1	0	0	A	24596193	G	A	24596193	3	1	84	1	0	0	0	0	1	0	0	0	8210	1174	41	3	2585	3	KIAA0319	6	24596193	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		24596193	146518874	10	1517											
MTHFD1L	25902	broad.mit.edu	37	6	151336057	151336057	+	Silent	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:151336057G>A	ENST00000367321.3	+	23	2623	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	783	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCTCCAGAAGCAAATTCAGA	0.478											OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	73					0	0	1	0	0	A	151336057	G	A	151336057	2	1	84	1	0	0	0	0	0	0	0	1	9976	962	34	3		3	MTHFD1L	6	151336057	Silent	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	126739864	151336057	19779010	11	1518											
SEMA3E	9723	broad.mit.edu	37	7	83029537	83029537	+	Silent	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:83029537G>A	ENST00000307792.3	-	11	1640	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	SEMA3E_ENST00000427262.1_Silent_p.Y331Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	391	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGGTGGTTCCGTATCTCCCTC	0.388													4	105					0	0	1	0	0	A	83029537	G	A	83029537	2	1	84	1	0	0	0	0	0	0	0	1	14082	1140	40	1		1	SEMA3E	7	83029537	Silent	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		83029537	76109126	12	1519											
NUP205	23165	broad.mit.edu	37	7	135323404	135323404	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:135323404A>G	ENST00000285968.6	+	38	5391	c.5365A>G	c.(5365-5367)Aca>Gca	p.T1789A		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1789					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTTTCAGAAACAGTTAATAG	0.438													5	161					0	0	1	0	0	G	135323404	A	G	135323404	3	3	84	1	0	0	0	0	1	0	0	0	10807	43	2	4	5515	4	NUP205	7	135323404	Missense_Mutation	SNP	A	TCGA-RW-A68F-01A-11D-A35D-08	52293867	135323404	23815259	13	1520											
UBE2W	55284	broad.mit.edu	37	8	74737421	74737421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr8:74737421delT	ENST00000517608.1	-	3	258	c.258delA	c.(256-258)ctfs	p.L86fs	UBE2W_ENST00000602593.1_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	57					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TAAATTTAAATAGAAGTTGAA	0.313													2	4	---	---	---	---						-	74737421	T	-	74737421	7	5	84	1	0	1	0	1	0	0	0	0	16938	1393	49	0	300	0	UBE2W	8	74737421	Frame_Shift_Del	DEL	T	TCGA-RW-A68F-01A-11D-A35D-08		74737421	71626601	14	1521											
TMEM2	23670	broad.mit.edu	37	9	74360015	74360015	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr9:74360015G>A	ENST00000377044.4	-	4	1492	c.953C>T	c.(952-954)gCc>gTc	p.A318V	TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	318						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTTTTAGCGGCTGAATCCCC	0.507													4	150					0	0	1	0	0	A	74360015	G	A	74360015	3	1	84	1	0	0	0	0	1	0	0	0	16181	1203	42	3	3282	3	TMEM2	9	74360015	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		74360015	66853416	15	1522											
FZD8	8325	broad.mit.edu	37	10	35928890	35928890	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:35928890C>A	ENST00000374694.1	-	1	1472	c.1468G>T	c.(1468-1470)Gtc>Ttc	p.V490F		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	490					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTAGATGACCAGCGGCGCC	0.662													3	24					0.115264	0.115264	1	1	0	A	35928890	C	A	35928890	3	1	84	1	0	0	0	0	1	0	0	0	6171	507	18	5	620	5	FZD8	10	35928890	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		35928890	99605857	16	1523											
LRRC27	80313	broad.mit.edu	37	10	134169317	134169317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:134169317delG	ENST00000368610.3	+	7	911	c.911delG	c.(910-912)tgfs	p.W304fs	LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Frame_Shift_Del_p.W366fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs|LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	366										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCAGGAGTGGAGAGAGCGA	0.572													2	4	---	---	---	---						-	134169317	G	-	134169317	7	5	84	1	0	1	0	1	0	0	0	0	9026	1357	47	0	1305	0	LRRC27	10	134169317	Frame_Shift_Del	DEL	G	TCGA-RW-A68F-01A-11D-A35D-08	98240427	134169317	1365430	17	1524											
SLC35C1	55343	broad.mit.edu	37	11	45827751	45827751	+	Silent	SNP	C	C	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:45827751C>G	ENST00000314134.3	+	1	1795	c.399C>G	c.(397-399)ctC>ctG	p.L133L	SLC35C1_ENST00000442528.2_Silent_p.L120L|SLC35C1_ENST00000456334.1_Silent_p.L120L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	133						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCAATAACCTCTGCCTCAAGT	0.607													28	10					0	0	1	0	0	G	45827751	C	G	45827751	2	3	84	1	0	0	0	0	0	0	0	1	14634	900	32	5		5	SLC35C1	11	45827751	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		45827751	89178765	18	1525											
MACROD1	28992	broad.mit.edu	37	11	63767229	63767229	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:63767229A>G	ENST00000255681.6	-	6	737	c.671T>C	c.(670-672)aTc>aCc	p.I224T	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	224	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CACTGTGTGGATGACGTCTAC	0.701													3	3					0	0	1	0	0	G	63767229	A	G	63767229	3	3	84	1	0	0	0	0	1	0	0	0	9191	333	12	4	326	4	MACROD1	11	63767229	Missense_Mutation	SNP	A	TCGA-RW-A68F-01A-11D-A35D-08	17939478	63767229	71239287	19	1526											
RSF1	51773	broad.mit.edu	37	11	77386295	77386295	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:77386295T>C	ENST00000308488.6	-	14	3650	c.3348A>G	c.(3346-3348)caA>caG	p.Q1116Q	RSF1_ENST00000480887.1_Silent_p.Q864Q|RSF1_ENST00000360355.2_Silent_p.Q1085Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAACTCATCTTGAGATCTGT	0.398													16	8					0	0	1	0	0	C	77386295	T	C	77386295	2	2	84	1	0	0	0	0	0	0	0	1	13751	1606	56	4		4	RSF1	11	77386295	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08	13619066	77386295	57620221	20	1527											
SLC38A4	55089	broad.mit.edu	37	12	47172479	47172479	+	Silent	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:47172479C>T	ENST00000447411.1	-	10	1004	c.798G>A	c.(796-798)acG>acA	p.T266T	SLC38A4_ENST00000266579.4_Silent_p.T266T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	266					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCATTGGAAGCGTGTTGTTGA	0.428													35	46					0	0	1	0	0	T	47172479	C	T	47172479	2	4	84	1	0	0	0	0	0	0	0	1	14661	755	27	1		1	SLC38A4	12	47172479	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		47172479	86679416	21	1528											
RAB35	11021	broad.mit.edu	37	12	120536942	120536942	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:120536942G>A	ENST00000229340.5	-	4	432	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	82					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGACCCCGTGGGTCCCCCGA	0.597													32	33					0	0	1	0	0	A	120536942	G	A	120536942	3	1	84	1	0	0	0	0	1	0	0	0	12977	1348	47	3	373	3	RAB35	12	120536942	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	73364463	120536942	13314953	22	1529											
MLXIP	22877	broad.mit.edu	37	12	122611891	122611891	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:122611891C>T	ENST00000319080.6	+	2	634	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	168	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGCCATCTGGCGGGCCTGGTA	0.587													12	15					0	0	1	0	0	T	122611891	C	T	122611891	3	4	84	1	0	0	0	0	1	0	0	0	9684	759	27	1	508	1	MLXIP	12	122611891	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	2074949	122611891	11240004	23	1530											
WASF3	10810	broad.mit.edu	37	13	27255299	27255299	+	Silent	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr13:27255299C>T	ENST00000361042.4	+	8	1041	c.816C>T	c.(814-816)caC>caT	p.H272H	WASF3_ENST00000335327.5_Silent_p.H275H			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	275					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGCCACCACACGGGCCTGCAA	0.652													4	135					0	0	1	0	0	T	27255299	C	T	27255299	2	4	84	1	0	0	0	0	0	0	0	1	17314	535	19	1		1	WASF3	13	27255299	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		27255299	87914579	24	1531											
DCC	1630	broad.mit.edu	37	18	50734115	50734115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr18:50734115C>T	ENST00000442544.2	+	11	2405	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	597	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATATAGTCTTCGATTCTTAGC	0.373													5	211					0	0	1	0	0	T	50734115	C	T	50734115	4	4	84	1	0	0	0	0	0	1	0	0	4305	876	31	2	1831	2	DCC	18	50734115	Nonsense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		50734115	27343133	25	1532											
IQSEC2	23096	broad.mit.edu	37	X	53268384	53268384	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:53268384C>A	ENST00000396435.3	-	11	3308	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1026H	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1026	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CACATGAATTCTGGAAGAGCT	0.502											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	53					5.9392e-07	6.28856e-07	1	1	0	A	53268384	C	A	53268384	3	1	84	1	0	0	0	0	1	0	0	0	7862	912	32	5	1378	5	IQSEC2	23	53268384	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		53268384	102002176	26	1533											
COL4A5	1287	broad.mit.edu	37	X	107930801	107930801	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:107930801C>A	ENST00000328300.6	+	49	4649	c.4405C>A	c.(4405-4407)Ctt>Att	p.L1469I	COL4A5_ENST00000361603.2_Missense_Mutation_p.L1463I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1463	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACATGGATTTCTTATTACACG	0.517									Alport syndrome with Diffuse Leiomyomatosis				4	140					0.00909568	0.00935556	1	1	0	A	107930801	C	A	107930801	3	1	84	1	0	0	0	0	1	0	0	0	3717	913	32	5	4584	5	COL4A5	23	107930801	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	54662417	107930801	47339759	27	1534											
RGAG1	57529	broad.mit.edu	37	X	109695456	109695456	+	Silent	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:109695456C>T	ENST00000465301.2	+	3	1857	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	RGAG1_ENST00000540313.1_Silent_p.S537S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	537										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						GATCAATGTCCATGCTGCAAA	0.502													84	126					0	0	1	0	0	T	109695456	C	T	109695456	2	4	84	1	0	0	0	0	0	0	0	1	13326	581	21	3		3	RGAG1	23	109695456	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	1764655	109695456	45575104	28	1535											
PAK3	5063	broad.mit.edu	37	X	110439691	110439691	+	Silent	SNP	C	C	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:110439691C>G	ENST00000519681.1	+	17	1735	c.1293C>G	c.(1291-1293)gcC>gcG	p.A431A	PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000372007.4_Silent_p.A410A|PAK3_ENST00000372010.1_Silent_p.A425A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000417227.1_Silent_p.A431A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	425	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTTCTGTGCCCAGATCACTC	0.433										TSP Lung(19;0.15)			13	115					0	0	1	0	0	G	110439691	C	G	110439691	2	3	84	1	0	0	0	0	0	0	0	1	11449	610	22	5		5	PAK3	23	110439691	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	744235	110439691	44830869	29	1536											
RAD51AP2	729475	broad.mit.edu	37	2	17696549	17696549	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr2:17696549T>C	ENST00000399080.2	-	1	3157	c.3134A>G	c.(3133-3135)cAa>cGa	p.Q1045R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1045										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAATAAACTTTGGTGACTTTT	0.358													4	60					0	0	1	0	0	C	17696549	T	C	17696549	3	2	85	1	0	0	0	0	1	0	0	0	13039	1812	63	4	357	4	RAD51AP2	2	17696549	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		17696549	225502824	1	1537											
HSPA1L	0	broad.mit.edu	37	6	31779583	31779583	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr6:31779583G>A	ENST00000375654.4	-	2	356	c.167C>T	c.(166-168)gCg>gTg	p.A56V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	56					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTTGGCCGCATCCCCAAT	0.532													4	115					0	0	1	0	0	A	31779583	G	A	31779583	3	1	85	1	0	0	0	0	1	0	0	0	7453	1087	38	1	1762	1	HSPA1L	6	31779583	Missense_Mutation	SNP	G	TCGA-RW-A68G-01A-11D-A35D-08		31779583	139335484	2	1538											
TSPAN13	27075	broad.mit.edu	37	7	16818665	16818665	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr7:16818665C>T	ENST00000262067.4	+	5	897	c.464C>T	c.(463-465)gCt>gTt	p.A155V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	155						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TCGCCATGTGCTCCAATCATA	0.358													17	58					0	0	1	0	0	T	16818665	C	T	16818665	3	4	85	1	0	0	0	0	1	0	0	0	16698	797	28	3	482	3	TSPAN13	7	16818665	Missense_Mutation	SNP	C	TCGA-RW-A68G-01A-11D-A35D-08		16818665	142319998	3	1539											
NBEA	26960	broad.mit.edu	37	13	35644944	35644944	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr13:35644944T>C	ENST00000540320.1	+	10	2060	c.1526T>C	c.(1525-1527)tTg>tCg	p.L509S	NBEA_ENST00000310336.4_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S|NBEA_ENST00000400445.3_Missense_Mutation_p.L509S			Q8NFP9	NBEA_HUMAN	neurobeachin	509						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGCCCAATTGGATAATAGG	0.363													11	58					0	0	1	0	0	C	35644944	T	C	35644944	3	2	85	1	0	0	0	0	1	0	0	0	10235	1821	63	4	1564	4	NBEA	13	35644944	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		35644944	79524934	4	1540											
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.306_splice	c.e2+1	p.T102_splice	DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													3	17					0	0	1	0	0	T	24424420	C	T	24424420	5	4	85	1	0	0	0	0	0	0	1	0	4520	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-RW-A68G-01A-11D-A35D-08		24424420	82925120	5	1541											
NOMO1	23420	broad.mit.edu	37	16	14972620	14972620	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:14972620T>C	ENST00000287667.7	+	23	2857	c.2686T>C	c.(2686-2688)Tcc>Ccc	p.S896P		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	896						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGTCCTCTTATCCCTGAGCGG	0.498													16	160					0	0	1	0	0	C	14972620	T	C	14972620	3	2	85	1	0	0	0	0	1	0	0	0	10578	1435	50	4	2776	4	NOMO1	16	14972620	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		14972620	75382133	6	1542											
CDH11	1009	broad.mit.edu	37	16	65038741	65038741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:65038741delA	ENST00000394156.3	-	3	485	c.32delT	c.(31-33)cgfs	p.L11fs	CDH11_ENST00000268603.4_Frame_Shift_Del_p.L11fs|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	11					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGGCACACCAGGGCGGCTTG	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			2	4	---	---	---	---						-	65038741	A	-	65038741	7	5	85	1	0	1	0	1	0	0	0	0	3119	188	7	0	2402	0	CDH11	16	65038741	Frame_Shift_Del	DEL	A	TCGA-RW-A68G-01A-11D-A35D-08	50066121	65038741	25316012	7	1543											
KIAA1755	85449	broad.mit.edu	37	20	36869018	36869018	+	Silent	SNP	A	A	G			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr20:36869018A>G	ENST00000279024.4	-	3	1786	c.1515T>C	c.(1513-1515)tcT>tcC	p.S505S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	505										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGTTTAGGAGAGTAGAGGG	0.507													5	88					0	0	1	0	0	G	36869018	A	G	36869018	2	3	85	1	0	0	0	0	0	0	0	1	8299	291	11	4		4	KIAA1755	20	36869018	Silent	SNP	A	TCGA-RW-A68G-01A-11D-A35D-08		36869018	26156502	8	1544											
JUN	3725	broad.mit.edu	37	1	59248091	59248091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:59248091G>A	ENST00000371222.2	-	1	1694	c.652C>T	c.(652-654)Cag>Tag	p.Q218*		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	218					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGCGGGTGCTGCACGGGCATC	0.736			A		sarcoma								4	16					0	0	1	0	0	A	59248091	G	A	59248091	4	1	86	1	0	0	0	0	0	1	0	0	8013	1328	46	3	347	3	JUN	1	59248091	Nonsense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		59248091	190002530	1	1545											
BRDT	676	broad.mit.edu	37	1	92430246	92430246	+	Silent	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:92430246T>C	ENST00000370389.2	+	3	960	c.36T>C	c.(34-36)aaT>aaC	p.N12N	BRDT_ENST00000399546.2_Silent_p.N85N|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000362005.3_Silent_p.N85N|BRDT_ENST00000394530.3_Intron	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCTTGGAGAATAAATATTATG	0.274													3	62					0	0	1	0	0	C	92430246	T	C	92430246	2	2	86	1	0	0	0	0	0	0	0	1	1510	1403	49	4		4	BRDT	1	92430246	Silent	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08	33182155	92430246	156820375	2	1546											
CAPN9	10753	broad.mit.edu	37	1	230930958	230930958	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:230930958G>A	ENST00000354537.1	+	17	1924	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Silent_p.A640A|CAPN9_ENST00000366666.2_Silent_p.A577A|CAPN9_ENST00000480004.1_3'UTR	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	640	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCAGGTATGCGGATGAGGAGC	0.612													3	22					0	0	1	0	0	A	230930958	G	A	230930958	2	1	86	1	0	0	0	0	0	0	0	1	2650	1103	39	2		2	CAPN9	1	230930958	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08	138500712	230930958	18319663	3	1547											
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)atfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413													7	493	---	---	---	---						-	109382805	T	-	109382805	7	5	86	1	0	1	0	1	0	0	0	0	13080	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-RW-A7CZ-01A-11D-A35D-08		109382805	133816568	4	1548											
PDZRN3	23024	broad.mit.edu	37	3	73432662	73432662	+	Missense_Mutation	SNP	C	C	T	rs146957114		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:73432662C>T	ENST00000263666.4	-	10	3169	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1019							ubiquitin-protein ligase activity|zinc ion binding	p.E1019K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGCTCAGTTCGAGAATGTTC	0.498													5	130					0	0	1	0	0	T	73432662	C	T	73432662	3	4	86	1	0	0	0	0	1	0	0	0	11756	893	31	2	149	2	PDZRN3	3	73432662	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		73432662	124589768	5	1549											
PLCH1	23007	broad.mit.edu	37	3	155241774	155241774	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:155241774T>C	ENST00000460012.1	-	11	1649	c.1292A>G	c.(1291-1293)cAc>cGc	p.H431R	PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000340059.7_Missense_Mutation_p.H449R|PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	449	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCCCCAAGGTGATAAGGCAA	0.408													46	75					0	0	1	0	0	C	155241774	T	C	155241774	3	2	86	1	0	0	0	0	1	0	0	0	12085	1696	59	4	3806	4	PLCH1	3	155241774	Missense_Mutation	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08	81809112	155241774	42780656	6	1550											
PDGFRA	5156	broad.mit.edu	37	4	55133522	55133522	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr4:55133522A>G	ENST00000257290.5	+	6	1157	c.826A>G	c.(826-828)Acg>Gcg	p.T276A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	276	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTACACTTTGACGGTCCCCGA	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			3	57					0	0	1	0	0	G	55133522	A	G	55133522	3	3	86	1	0	0	0	0	1	0	0	0	11708	275	10	4	844	4	PDGFRA	4	55133522	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		55133522	136020754	7	1551											
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	548					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756													3	3					0	0	1	0	0	T	112824054	C	T	112824054	3	4	86	1	0	0	0	0	1	0	0	0	9423	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		112824054	68091206	8	1552											
PCDHB10	0	broad.mit.edu	37	5	140574405	140574405	+	Silent	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:140574405C>T	ENST00000239446.4	+	1	2464	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		760					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACGGGAGGCCCCGGGACCA	0.567													13	81					0	0	1	0	0	T	140574405	C	T	140574405	2	4	86	1	0	0	0	0	0	0	0	1	11582	726	26	3		3	PCDHB10	5	140574405	Silent	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	27750351	140574405	40340855	9	1553											
TCERG1	10915	broad.mit.edu	37	5	145843159	145843159	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:145843159C>T	ENST00000296702.5	+	5	976	c.938C>T	c.(937-939)gCc>gTc	p.A313V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	313	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCAGTTGCCACGCCTACA	0.458													4	154					0	0	1	0	0	T	145843159	C	T	145843159	3	4	86	1	0	0	0	0	1	0	0	0	15745	739	26	3	956	3	TCERG1	5	145843159	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	5268754	145843159	35072101	10	1554											
PHACTR1	221692	broad.mit.edu	37	6	13185173	13185173	+	Silent	SNP	C	C	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr6:13185173C>A	ENST00000379345.2	+	5	613	c.372C>A	c.(370-372)ccC>ccA	p.P124P	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	64						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGCAGCTGCCCCTTCTCAAGC	0.582													13	44					4.7546e-09	5.09422e-09	1	1	0	A	13185173	C	A	13185173	2	1	86	1	0	0	0	0	0	0	0	1	11857	638	22	5		5	PHACTR1	6	13185173	Silent	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		13185173	157929894	11	1555											
AGER	177	broad.mit.edu	37	6	32150435	32150435	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr6:32150435T>C	ENST00000375065.5	-	4	359	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000438221.2_Silent_p.P260P|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375076.4_Silent_p.P244P|AGER_ENST00000375069.3_Silent_p.P143P|AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375070.3_Silent_p.P275P			Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	0					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CTCCACCTTCTGGCTCCACCA	0.562													3	46					0	0	1	0	0	C	32150435	T	C	32150435	3	2	86	1	0	0	0	0	1	0	0	0	376	1567	55	4	531	4	AGER	6	32150435	Missense_Mutation	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08	18965262	32150435	138964632	12	1556											
ABCF2	10061	broad.mit.edu	37	7	150913092	150913092	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr7:150913092G>A	ENST00000287844.2	-	12	1471	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	ABCF2_ENST00000222388.2_Silent_p.I454I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	454	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTTTTCGGATCATGCCAT	0.493													12	96					0	0	1	0	0	A	150913092	G	A	150913092	2	1	86	1	0	0	0	0	0	0	0	1	66	1164	41	3		3	ABCF2	7	150913092	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		150913092	8225571	13	1557											
CSMD3	114788	broad.mit.edu	37	8	113237069	113237069	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr8:113237069G>A	ENST00000297405.5	-	71	11299	c.11055C>T	c.(11053-11055)aaC>aaT	p.N3685N	CSMD3_ENST00000343508.3_Silent_p.N3645N|CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000352409.3_Silent_p.N3615N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3685						integral to membrane|plasma membrane		p.N3685K(1)|p.N3645K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGACTTTGCGTTGGTGTCAT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	114					0	0	1	0	0	A	113237069	G	A	113237069	2	1	86	1	0	0	0	0	0	0	0	1	3971	1136	40	1		1	CSMD3	8	113237069	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		113237069	33126953	14	1558											
FAM21B	55747	broad.mit.edu	37	10	47929869	47929869	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr10:47929869C>T	ENST00000358474.5	+	19	1850	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	617					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTGGCTCTCCTCCCACATCT	0.453													3	69					0	0	1	0	0	T	47929869	C	T	47929869	3	4	86	1	0	0	0	0	1	0	0	0	5573	681	24	3	1924	3	FAM21B	10	47929869	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		47929869	87604878	15	1559											
SYT9	143425	broad.mit.edu	37	11	7334941	7334941	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:7334941A>T	ENST00000318881.6	+	3	1050	c.813A>T	c.(811-813)aaA>aaT	p.K271N	SYT9_ENST00000396716.2_Missense_Mutation_p.K239N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	271	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGAAAACAAAACACCAGACTA	0.423													6	122					0	0	1	0	0	T	7334941	A	T	7334941	3	4	86	1	0	0	0	0	1	0	0	0	15538	40	2	5	823	5	SYT9	11	7334941	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		7334941	127671575	16	1560											
SSH3	54961	broad.mit.edu	37	11	67079325	67079325	+	Silent	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:67079325C>T	ENST00000308127.4	+	14	2125	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	649					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S649S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACAGGCCAGCGTGCATGACA	0.642													12	19					0	0	1	0	0	T	67079325	C	T	67079325	2	4	86	1	0	0	0	0	0	0	0	1	15242	767	27	1		1	SSH3	11	67079325	Silent	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	59744384	67079325	67927191	17	1561											
CD3E	916	broad.mit.edu	37	11	118175676	118175676	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:118175676G>A	ENST00000361763.4	+	2	300	c.9G>A	c.(7-9)tcG>tcA	p.S3S	CD3E_ENST00000528600.1_Silent_p.S3S	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	3					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGATGCAGTCGGGCACTCACT	0.488													4	120					0	0	1	0	0	A	118175676	G	A	118175676	2	1	86	1	0	0	0	0	0	0	0	1	3033	1103	39	2		2	CD3E	11	118175676	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08	51096351	118175676	16830840	18	1562											
FBXO33	254170	broad.mit.edu	37	14	39871700	39871700	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr14:39871700A>C	ENST00000298097.7	-	2	952	c.615T>G	c.(613-615)ttT>ttG	p.F205L	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	205										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CAAAAAGACTAAACTTCTGAA	0.299													9	19					0	0	1	0	0	C	39871700	A	C	39871700	3	2	86	1	0	0	0	0	1	0	0	0	5776	359	13	5	1064	5	FBXO33	14	39871700	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		39871700	67477840	19	1563											
CEP152	22995	broad.mit.edu	37	15	49034156	49034156	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr15:49034156T>A	ENST00000380950.2	-	25	4164	c.3977A>T	c.(3976-3978)gAt>gTt	p.D1326V	CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V|CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1270					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTTTCCATCATCCTGCAA	0.393													4	133					0	0	1	0	0	A	49034156	T	A	49034156	3	1	86	1	0	0	0	0	1	0	0	0	3270	1435	50	5	1167	5	CEP152	15	49034156	Missense_Mutation	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08		49034156	53497236	20	1564											
DVL2	1856	broad.mit.edu	37	17	7132319	7132319	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr17:7132319G>A	ENST00000005340.5	-	9	1285	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	DVL2_ENST00000575458.1_Missense_Mutation_p.R329W	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	335	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCAGCACCCGCACAGCGTCA	0.532													3	48					0	0	1	0	0	A	7132319	G	A	7132319	3	1	86	1	0	0	0	0	1	0	0	0	4862	1086	38	1	1235	1	DVL2	17	7132319	Missense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		7132319	74062891	21	1565											
ZNF426	79088	broad.mit.edu	37	19	9645923	9645923	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr19:9645923G>A	ENST00000535489.1	-	2	394	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTCTTCATGAAGGCAAACT	0.443													17	199					0	0	1	0	0	A	9645923	G	A	9645923	3	1	86	1	0	0	0	0	1	0	0	0	17957	1290	45	3	1626	3	ZNF426	19	9645923	Missense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		9645923	49483060	22	1566											
PPP1R3F	89801	broad.mit.edu	37	X	49143521	49143521	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:49143521C>T	ENST00000055335.6	+	4	2385	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	790						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGTGCTTGCGCTGTGCCTC	0.627													3	24					0	0	1	0	0	T	49143521	C	T	49143521	3	4	86	1	0	0	0	0	1	0	0	0	12424	768	27	1	2383	1	PPP1R3F	23	49143521	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		49143521	106127039	23	1567											
AWAT1	158833	broad.mit.edu	37	X	69458182	69458182	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:69458182C>A	ENST00000374521.3	+	5	622	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	194					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						AACACCACCACCCTCATCCTC	0.602													8	16					0.000157383	0.00016281	1	1	0	A	69458182	C	A	69458182	3	1	86	1	0	0	0	0	1	0	0	0	1232	507	18	5	599	5	AWAT1	23	69458182	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	20314661	69458182	85812378	24	1568											
ARMCX3	51566	broad.mit.edu	37	X	100880328	100880328	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:100880328C>G	ENST00000341189.4	+	5	1225	c.359C>G	c.(358-360)cCt>cGt	p.P120R	ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	120						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GTTTTGTCCCCTCAAGAGCTA	0.512													14	81					0	0	1	0	0	G	100880328	C	G	100880328	3	3	86	1	0	0	0	0	1	0	0	0	960	681	24	5	361	5	ARMCX3	23	100880328	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	31422146	100880328	54390232	25	1569											
OTUD3	23252	broad.mit.edu	37	1	20232993	20232993	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr1:20232993G>A	ENST00000375120.3	+	7	905	c.904G>A	c.(904-906)Ggc>Agc	p.G302S		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	302										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAGGGTGGCAGTGGTGC	0.468													5	8					0	0	1	0	0	A	20232993	G	A	20232993	3	1	87	1	0	0	0	0	1	0	0	0	11360	1348	47	3	930	3	OTUD3	1	20232993	Missense_Mutation	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		20232993	229017628	1	1570											
LIMS2	55679	broad.mit.edu	37	2	128412102	128412102	+	Silent	SNP	G	G	A			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr2:128412102G>A	ENST00000409455.1	-	4	875	c.240C>T	c.(238-240)ggC>ggT	p.G80G	LIMS2_ENST00000409808.2_Silent_p.G80G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000355119.4_Silent_p.G85G|LIMS2_ENST00000410011.1_Silent_p.G80G|LIMS2_ENST00000324938.5_Silent_p.G109G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	85	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGATGACGCGGCCAATGATGA	0.607													4	86					0	0	1	0	0	A	128412102	G	A	128412102	2	1	87	1	0	0	0	0	0	0	0	1	8844	1190	42	3		3	LIMS2	2	128412102	Silent	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		128412102	114787271	2	1571											
CSRNP1	64651	broad.mit.edu	37	3	39188103	39188105	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr3:39188103_39188105delGAG	ENST00000273153.5	-	2	246_248	c.69_71delCTC	c.(67-72)tct>tc	p.SS25del	CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	25	Ser-rich.				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCAGAGGAAGAGGAGGAGGAGG	0.616													2	4	---	---	---	---						-	39188105	GAG	-	39188103	7	5	87	1	0	1	0	1	0	0	0	0	3988	942	33	0	1714	0	CSRNP1	3	39188103	In_Frame_Del	DEL	GAG	TCGA-RW-A7D0-01A-11D-A35D-08		39188103	158834327	3	1572											
RICTOR	253260	broad.mit.edu	37	5	38950323	38950323	+	Silent	SNP	C	C	T			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr5:38950323C>T	ENST00000357387.3	-	31	3657	c.3627G>A	c.(3625-3627)acG>acA	p.T1209T	RICTOR_ENST00000296782.5_Silent_p.T1209T	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1209					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGTGAGCTCGTTGAACTTT	0.393													4	178					0	0	1	0	0	T	38950323	C	T	38950323	2	4	87	1	0	0	0	0	0	0	0	1	13408	871	31	2		2	RICTOR	5	38950323	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		38950323	141964937	4	1573											
ZFP2	80108	broad.mit.edu	37	5	178358732	178358732	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr5:178358732A>G	ENST00000361362.2	+	5	948	c.418A>G	c.(418-420)Att>Gtt	p.I140V	ZFP2_ENST00000520301.1_Missense_Mutation_p.I140V|ZFP2_ENST00000503510.2_Missense_Mutation_p.I140V|ZFP2_ENST00000523286.1_Missense_Mutation_p.I140V	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAAACACTTCATTGAACGATC	0.413													25	29					0	0	1	0	0	G	178358732	A	G	178358732	3	3	87	1	0	0	0	0	1	0	0	0	17699	217	8	4	420	4	ZFP2	5	178358732	Missense_Mutation	SNP	A	TCGA-RW-A7D0-01A-11D-A35D-08	139408409	178358732	2556528	5	1574											
FAM131B	9715	broad.mit.edu	37	7	143053779	143053779	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr7:143053779G>A	ENST00000409408.1	-	6	2571	c.863C>T	c.(862-864)gCg>gTg	p.A288V	FAM131B_ENST00000409346.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409578.1_Missense_Mutation_p.A304V|FAM131B_ENST00000409222.3_Missense_Mutation_p.A288V|FAM131B_ENST00000443739.2_Missense_Mutation_p.A316V			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	288										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCGGCATCCCGCATCCTCTTC	0.627													4	151					0	0	1	0	0	A	143053779	G	A	143053779	3	1	87	1	0	0	0	0	1	0	0	0	5471	1087	38	1	139	1	FAM131B	7	143053779	Missense_Mutation	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		143053779	16084884	6	1575											
PREX2	80243	broad.mit.edu	37	8	68934377	68934377	+	Splice_Site	SNP	T	T	A			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr8:68934377T>A	ENST00000288368.4	+	4	718		c.e4+2		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTCTTTTGGTAAGTGTATAT	0.338													11	19					0	0	1	0	0	A	68934377	T	A	68934377	5	1	87	1	0	0	0	0	0	0	1	0	12529	1652	57	5	457	5	PREX2	8	68934377	Splice_Site	SNP	T	TCGA-RW-A7D0-01A-11D-A35D-08		68934377	77429645	7	1576											
OR10A3	26496	broad.mit.edu	37	11	7960834	7960834	+	Silent	SNP	C	C	T			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr11:7960834C>T	ENST00000360759.3	-	1	307	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCATTTCAGGCGTAATGACTG	0.448													13	77					0	0	1	0	0	T	7960834	C	T	7960834	2	4	87	1	0	0	0	0	0	0	0	1	10939	755	27	1		1	OR10A3	11	7960834	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		7960834	127045682	8	1577											
CPSF7	79869	broad.mit.edu	37	11	61183138	61183148	+	Splice_Site	DEL	CTGCACTGGCT	CTGCACTGGCT	-			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr11:61183138_61183148delCTGCACTGGCT	ENST00000340437.4	-	7	1283_1293	c.1213_splice	c.e7+1	p.GASAG401_splice	CPSF7_ENST00000439958.3_Splice_Site_p.GASAG349_splice|CPSF7_ENST00000394888.4_Splice_Site_p.GASAG358_splice|CPSF7_ENST00000448745.1_Splice_Site_p.GASAG349_splice	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	358					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGAGTTACCTGCACTGGCTCCAGATACTG	0.436													10	28	---	---	---	---						-	61183148	CTGCACTGGCT	-	61183138	8	5	87	1	0	1	0	1	0	0	1	0	3853	695	24	0	343	0	CPSF7	11	61183138	Splice_Site	DEL	CTGCACTGGCT	TCGA-RW-A7D0-01A-11D-A35D-08	53222304	61183138	73823378	9	1578											
FLT1	2321	broad.mit.edu	37	13	28919665	28919665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr13:28919665C>A	ENST00000282397.4	-	16	2523	c.2272G>T	c.(2272-2274)Gag>Tag	p.E758*	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	758					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGATCAGCTCCAGATTAGAC	0.403													4	15					1	1	1	1	0	A	28919665	C	A	28919665	4	1	87	1	0	0	0	0	0	1	0	0	5974	864	30	5	1804	5	FLT1	13	28919665	Nonsense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		28919665	86250213	10	1579											
NF1	4763	broad.mit.edu	37	17	29528481	29528481	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr17:29528481C>G	ENST00000358273.4	+	11	1621	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S413*|NF1_ENST00000431387.4_Nonsense_Mutation_p.S413*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	413					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTAAATTCACTCCATCGA	0.294			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			40	46					0	0	1	0	0	G	29528481	C	G	29528481	4	3	87	1	0	0	0	0	0	1	0	0	10403	838	29	5	1280	5	NF1	17	29528481	Nonsense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		29528481	51666729	11	1580											
PRMT1	0	broad.mit.edu	37	19	50185323	50185323	+	Splice_Site	SNP	G	G	C			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr19:50185323G>C	ENST00000532489.1	+	4	716		c.e4+1		PRMT1_ENST00000454376.2_Splice_Site|PRMT1_ENST00000391851.4_Splice_Site			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1							cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGTCATCGGGGTGAGTCTCCA	0.682													3	42					0	0	1	0	0	C	50185323	G	C	50185323	5	2	87	1	0	0	0	0	0	0	1	0	12587	1275	44	5	363	5	PRMT1	19	50185323	Splice_Site	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		50185323	8943660	12	1581											
SPAG4	6676	broad.mit.edu	37	20	34205716	34205716	+	Silent	SNP	C	C	T			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr20:34205716C>T	ENST00000374273.3	+	4	604	c.492C>T	c.(490-492)atC>atT	p.I164I	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	164					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.I164I(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCTGTTCCATCCGCTTCCTGT	0.637													22	46					0	0	1	0	0	T	34205716	C	T	34205716	2	4	87	1	0	0	0	0	0	0	0	1	15036	845	30	3		3	SPAG4	20	34205716	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		34205716	28819804	13	1582											
KRTAP10-8	386681	broad.mit.edu	37	21	46032334	46032334	+	Missense_Mutation	SNP	C	C	T	rs141295608	byFrequency	TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr21:46032334C>T	ENST00000334662.2	+	1	339	c.317C>T	c.(316-318)cCg>cTg	p.P106L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	106	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCTGCCAGCCGGCTTGCTGC	0.642													30	61					0	0	1	0	0	T	46032334	C	T	46032334	3	4	87	1	0	0	0	0	1	0	0	0	8558	652	23	2	319	2	KRTAP10-8	21	46032334	Missense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		46032334	2097561	14	1583											
GGT1	2678	broad.mit.edu	37	22	25016897	25016897	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr22:25016897A>T	ENST00000400382.1	+	9	1348	c.593A>T	c.(592-594)gAt>gTt	p.D198V	GGT1_ENST00000400383.1_Missense_Mutation_p.D198V|GGT1_ENST00000248923.4_Missense_Mutation_p.D198V|GGT1_ENST00000406383.2_Missense_Mutation_p.D198V|GGT1_ENST00000400380.1_Missense_Mutation_p.D198V|GGT1_ENST00000466310.1_Intron			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	198					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCTGCCGGGATAGAAAGGTG	0.642													3	20					0	0	1	0	0	T	25016897	A	T	25016897	3	4	87	1	0	0	0	0	1	0	0	0	6403	333	12	5	611	5	GGT1	22	25016897	Missense_Mutation	SNP	A	TCGA-RW-A7D0-01A-11D-A35D-08		25016897	26287669	15	1584											
ZNF687	57592	broad.mit.edu	37	1	151260658	151260658	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:151260658C>T	ENST00000368879.2	+	2	1989	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGCCTTGCCTGCCTTGGG	0.642													23	53					0	0	1	0	0	T	151260658	C	T	151260658	3	4	88	1	0	0	0	0	1	0	0	0	18148	739	26	3	1893	3	ZNF687	1	151260658	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		151260658	97989963	1	1585											
TRIM17	51127	broad.mit.edu	37	1	228596255	228596255	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:228596255C>A	ENST00000366697.2	-	6	2037	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	361	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AACGCGTCCCCGGTGATGTTC	0.627													17	32					9.16793e-09	9.69181e-09	1	1	0	A	228596255	C	A	228596255	3	1	88	1	0	0	0	0	1	0	0	0	16554	652	23	5	356	5	TRIM17	1	228596255	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08	77335597	228596255	20654366	2	1586											
BIRC6	57448	broad.mit.edu	37	2	32693033	32693033	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:32693033C>G	ENST00000421745.2	+	28	5768	c.5634C>G	c.(5632-5634)taC>taG	p.Y1878*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1878					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGATTTTACTATGGTCATA	0.383													14	15					0	0	1	0	0	G	32693033	C	G	32693033	4	3	88	1	0	0	0	0	0	1	0	0	1437	576	20	5	5744	5	BIRC6	2	32693033	Nonsense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		32693033	210506340	3	1587											
IWS1	55677	broad.mit.edu	37	2	128262518	128262518	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:128262518A>G	ENST00000295321.4	-	3	1220	c.961T>C	c.(961-963)Tcc>Ccc	p.S321P	IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	321	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTGTGTCTGGACGCATCCTCA	0.517													66	104					0	0	1	0	0	G	128262518	A	G	128262518	3	3	88	1	0	0	0	0	1	0	0	0	7975	275	10	4	1546	4	IWS1	2	128262518	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	95569485	128262518	114936855	4	1588											
SPHKAP	80309	broad.mit.edu	37	2	228882283	228882283	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:228882283T>A	ENST00000392056.3	-	7	3333	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1096						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGTTGACATAGGCCCTGGC	0.602													5	40					0	0	1	0	0	A	228882283	T	A	228882283	3	1	88	1	0	0	0	0	1	0	0	0	15104	1406	49	5	1839	5	SPHKAP	2	228882283	Missense_Mutation	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	100619765	228882283	14317090	5	1589											
EPHA3	2042	broad.mit.edu	37	3	89478273	89478273	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:89478273G>A	ENST00000336596.2	+	12	2317	c.2092G>A	c.(2092-2094)Gtc>Atc	p.V698I	EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	698	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTTATGATTGTCACAGAATA	0.294										TSP Lung(6;0.00050)			36	57					0	0	1	0	0	A	89478273	G	A	89478273	3	1	88	1	0	0	0	0	1	0	0	0	5196	1377	48	3	2164	3	EPHA3	3	89478273	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		89478273	108544157	6	1590											
SHISA3	152573	broad.mit.edu	37	4	42403414	42403414	+	Silent	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:42403414C>G	ENST00000319234.4	+	2	881	c.663C>G	c.(661-663)ctC>ctG	p.L221L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	221					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CTTACCCCCTCCAGCAGGAGC	0.597													12	41					0	0	1	0	0	G	42403414	C	G	42403414	2	3	88	1	0	0	0	0	0	0	0	1	14336	842	30	5		5	SHISA3	4	42403414	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		42403414	148750862	7	1591											
MAML3	55534	broad.mit.edu	37	4	140641376	140641376	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:140641376G>A	ENST00000509479.2	-	5	3374	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	836	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTCTGGGAGGGTCCTATTCCC	0.592													71	107					0	0	1	0	0	A	140641376	G	A	140641376	3	1	88	1	0	0	0	0	1	0	0	0	9257	1261	44	3	902	3	MAML3	4	140641376	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	98237962	140641376	50512900	8	1592											
CCDC110	256309	broad.mit.edu	37	4	186379809	186379809	+	Silent	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:186379809A>G	ENST00000307588.3	-	6	2007	c.1932T>C	c.(1930-1932)ctT>ctC	p.L644L	CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000510617.1_Silent_p.L644L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	644						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTTGTTTCAAGGTTGAGTT	0.338													7	68					0	0	1	0	0	G	186379809	A	G	186379809	2	3	88	1	0	0	0	0	0	0	0	1	2765	117	5	4		4	CCDC110	4	186379809	Silent	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	45738433	186379809	4774467	9	1593											
FAT1	2195	broad.mit.edu	37	4	187521348	187521348	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:187521348G>T	ENST00000441802.2	-	22	12016	c.11807C>A	c.(11806-11808)aCa>aAa	p.T3936K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3936	Laminin G-like.				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						CCCTGGGGCTGTGCCCGATGC	0.512										HNSCC(5;0.00058)			14	21					0.00185496	0.00190648	1	1	0	T	187521348	G	T	187521348	3	4	88	1	0	0	0	0	1	0	0	0	5722	1377	48	5	1983	5	FAT1	4	187521348	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	1141539	187521348	3632928	10	1594											
HSPA1L	0	broad.mit.edu	37	6	31777995	31777995	+	Silent	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:31777995G>A	ENST00000375654.4	-	2	1944	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	HSPA1L_ENST00000417199.3_Silent_p.V585V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	585					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGTTGATTGACCTCCAGCC	0.408													4	131					0	0	1	0	0	A	31777995	G	A	31777995	2	1	88	1	0	0	0	0	0	0	0	1	7453	1277	45	3		3	HSPA1L	6	31777995	Silent	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		31777995	139337072	11	1595											
COL12A1	1303	broad.mit.edu	37	6	75893251	75893251	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:75893251C>A	ENST00000322507.8	-	10	1715	c.1406G>T	c.(1405-1407)aGt>aTt	p.S469I	COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	469	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S469I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTTCAAAACTTTTTACAAG	0.358													36	52					4.34311e-12	4.72632e-12	1	1	0	A	75893251	C	A	75893251	3	1	88	1	0	0	0	0	1	0	0	0	3692	565	20	5	8013	5	COL12A1	6	75893251	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08	44115256	75893251	95221816	12	1596											
TMEM8B	51754	broad.mit.edu	37	9	35853200	35853200	+	Silent	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:35853200C>G	ENST00000377988.2	+	12	2317	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	TMEM8B_ENST00000377991.4_Silent_p.L343L	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	343					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GACATGGACTCTGGAACCTGC	0.607													59	79					0	0	1	0	0	G	35853200	C	G	35853200	2	3	88	1	0	0	0	0	0	0	0	1	16275	900	32	5		5	TMEM8B	9	35853200	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		35853200	105360231	13	1597											
CNTNAP3	79937	broad.mit.edu	37	9	39118252	39118252	+	Silent	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:39118252T>C	ENST00000297668.6	-	14	2158	c.2085A>G	c.(2083-2085)ggA>ggG	p.G695G	CNTNAP3_ENST00000358144.2_Silent_p.G607G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377656.2_Silent_p.G694G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	695	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGTGGGGTTCCATCTGAAA	0.473													38	63					0	0	1	0	0	C	39118252	T	C	39118252	2	2	88	1	0	0	0	0	0	0	0	1	3671	1770	62	4		4	CNTNAP3	9	39118252	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	3265052	39118252	102095179	14	1598											
URM1	81605	broad.mit.edu	37	9	131140374	131140374	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:131140374A>T	ENST00000372850.1	+	2	115	c.95A>T	c.(94-96)cAg>cTg	p.Q32L	URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000452446.1_Missense_Mutation_p.Q32L|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372853.4_Missense_Mutation_p.Q32L			Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	32					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TTGCCTGGACAGGAGGAACCC	0.537													18	37					0	0	1	0	0	T	131140374	A	T	131140374	3	4	88	1	0	0	0	0	1	0	0	0	17087	188	7	5	101	5	URM1	9	131140374	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	92022122	131140374	10073057	15	1599											
SOHLH1	402381	broad.mit.edu	37	9	138586951	138586951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:138586951delC	ENST00000298466.5	-	6	880	c.820delG	c.(820-822)ctfs	p.A275fs	SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	275					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGAGGTGCAGCCCCCATGGCC	0.711													2	4	---	---	---	---						-	138586951	C	-	138586951	7	5	88	1	0	1	0	1	0	0	0	0	14977	739	26	0	396	0	SOHLH1	9	138586951	Frame_Shift_Del	DEL	C	TCGA-RW-A8AZ-01A-11D-A35D-08	7446577	138586951	2626480	16	1600											
ABCA2	20	broad.mit.edu	37	9	139911685	139911685	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:139911685G>A	ENST00000265662.5	-	18	2663	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000371605.3_Missense_Mutation_p.A838V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	838					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTATCATGCGCCACCTCCTC	0.652													28	26					0	0	1	0	0	A	139911685	G	A	139911685	3	1	88	1	0	0	0	0	1	0	0	0	32	1087	38	1	4922	1	ABCA2	9	139911685	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	1324734	139911685	1301746	17	1601											
YME1L1	10730	broad.mit.edu	37	10	27406652	27406652	+	Silent	SNP	A	A	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:27406652A>C	ENST00000326799.3	-	16	1891	c.1743T>G	c.(1741-1743)ccT>ccG	p.P581P	YME1L1_ENST00000375972.3_Silent_p.P491P|YME1L1_ENST00000376016.3_Silent_p.P524P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	581					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCTTCTTTCAGGCCCTAAGA	0.323													22	39					0	0	1	0	0	C	27406652	A	C	27406652	2	2	88	1	0	0	0	0	0	0	0	1	17547	175	7	5		5	YME1L1	10	27406652	Silent	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08		27406652	108128095	18	1602											
FOXI2	399823	broad.mit.edu	37	10	129537028	129537028	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:129537028G>A	ENST00000388920.4	+	2	795	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	252					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CTTCTGCTATGAGCGCTCTGG	0.711													6	7					0	0	1	0	0	A	129537028	G	A	129537028	3	1	88	1	0	0	0	0	1	0	0	0	6044	1290	45	3	762	3	FOXI2	10	129537028	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	102130376	129537028	5997719	19	1603											
WT1	7490	broad.mit.edu	37	11	32450088	32450088	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr11:32450088G>T	ENST00000332351.3	-	2	1008	c.724C>A	c.(724-726)Cac>Aac	p.H242N	WT1_ENST00000530998.1_Missense_Mutation_p.H30N|WT1_ENST00000448076.3_Missense_Mutation_p.H242N|WT1_ENST00000379079.2_Missense_Mutation_p.H30N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	174					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTGAATGAGTGGTTGGGGAAC	0.632			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				6	15					0.00198382	0.00198382	1	1	0	T	32450088	G	T	32450088	3	4	88	1	0	0	0	0	1	0	0	0	17468	1348	47	5	865	5	WT1	11	32450088	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		32450088	102556428	20	1604											
BICD1	636	broad.mit.edu	37	12	32480574	32480574	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr12:32480574G>C	ENST00000548411.1	+	5	1366	c.1185G>C	c.(1183-1185)aaG>aaC	p.K395N	BICD1_ENST00000281474.5_Missense_Mutation_p.K395N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	395					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACGGGGAGAAGGGCCGGGACT	0.577													11	24					0	0	1	0	0	C	32480574	G	C	32480574	3	2	88	1	0	0	0	0	1	0	0	0	1427	991	35	5	1203	5	BICD1	12	32480574	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		32480574	101371321	21	1605											
KLF12	11278	broad.mit.edu	37	13	74339086	74339086	+	Silent	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr13:74339086T>C	ENST00000377669.2	-	5	884	c.858A>G	c.(856-858)caA>caG	p.Q286Q	KLF12_ENST00000377666.4_Silent_p.Q286Q	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	286					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		aaggaaacttttgattattca	0.373													58	88					0	0	1	0	0	C	74339086	T	C	74339086	2	2	88	1	0	0	0	0	0	0	0	1	8383	1838	64	4		4	KLF12	13	74339086	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08		74339086	40830792	22	1606											
PAPOLA	10914	broad.mit.edu	37	14	97022548	97022548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr14:97022548delA	ENST00000216277.8	+	19	2022	c.1802delA	c.(1801-1803)cafs	p.Q601fs	PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	601	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACTGCCACACAACCAGCCATT	0.408													91	131	---	---	---	---						-	97022548	A	-	97022548	7	5	88	1	0	1	0	1	0	0	0	0	11476	130	5	0	1876	0	PAPOLA	14	97022548	Frame_Shift_Del	DEL	A	TCGA-RW-A8AZ-01A-11D-A35D-08		97022548	10326992	23	1607											
DUOX2	50506	broad.mit.edu	37	15	45386413	45386413	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr15:45386413T>C	ENST00000389039.6	-	34	4967	c.4582A>G	c.(4582-4584)Aag>Gag	p.K1528E	DUOX2_ENST00000603300.1_Missense_Mutation_p.K1528E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1528					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGACAGGCCTTCTCTACATTC	0.577													10	20					0	0	1	0	0	C	45386413	T	C	45386413	3	2	88	1	0	0	0	0	1	0	0	0	4827	1792	62	4	68	4	DUOX2	15	45386413	Missense_Mutation	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08		45386413	57144979	24	1608											
ATP2A1	487	broad.mit.edu	37	16	28909760	28909760	+	Silent	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:28909760C>T	ENST00000395503.4	+	14	1936	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ATP2A1_ENST00000357084.3_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	584					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGCCAGGTTCCTGGAGTATG	0.652													5	26					0	0	1	0	0	T	28909760	C	T	28909760	2	4	88	1	0	0	0	0	0	0	0	1	1135	854	30	3		3	ATP2A1	16	28909760	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		28909760	61444993	25	1609											
KLHL36	79786	broad.mit.edu	37	16	84693464	84693464	+	Silent	SNP	T	T	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:84693464T>A	ENST00000564996.1	+	4	1377	c.1236T>A	c.(1234-1236)tcT>tcA	p.S412S	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	412										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCGCTCTCTTCAGTAGAGA	0.572													28	52					0	0	1	0	0	A	84693464	T	A	84693464	2	1	88	1	0	0	0	0	0	0	0	1	8432	1596	56	5		5	KLHL36	16	84693464	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	55783704	84693464	5661289	26	1610											
DVL2	1856	broad.mit.edu	37	17	7129360	7129360	+	Missense_Mutation	SNP	G	G	A	rs147610025		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:7129360G>A	ENST00000005340.5	-	15	2317	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	DVL2_ENST00000575458.1_Missense_Mutation_p.P673S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	679					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						ACCATCATGGGGTTGTAGGGG	0.672													19	26					0	0	1	0	0	A	7129360	G	A	7129360	3	1	88	1	0	0	0	0	1	0	0	0	4862	1232	43	3	179	3	DVL2	17	7129360	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		7129360	74065850	27	1611											
PRKAR1A	5573	broad.mit.edu	37	17	66521051	66521051	+	Splice_Site	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:66521051A>G	ENST00000589228.1	+	6	630		c.e6-1		PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACCCTCTTTTAGGTGATGAAG	0.289			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				56	95					0	0	1	0	0	G	66521051	A	G	66521051	5	3	88	1	0	0	0	0	0	0	1	0	12555	434	15	4	519	4	PRKAR1A	17	66521051	Splice_Site	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	59391691	66521051	14674159	28	1612											
MUC16	94025	broad.mit.edu	37	19	9000200	9000200	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr19:9000200G>C	ENST00000397910.4	-	55	40760	c.40557C>G	c.(40555-40557)ttC>ttG	p.F13519L	MUC16_ENST00000380951.5_Missense_Mutation_p.F160L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13521	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTTCTTGAACACAGGCC	0.562													26	53					0	0	1	0	0	C	9000200	G	C	9000200	3	2	88	1	0	0	0	0	1	0	0	0	10021	1281	45	5	3086	5	MUC16	19	9000200	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		9000200	50128783	29	1613											
CDK5RAP1	51654	broad.mit.edu	37	20	31984647	31984647	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:31984647G>A	ENST00000357886.4	-	2	377	c.224C>T	c.(223-225)cCt>cTt	p.P75L	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	75	CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTCTCCTGAGGAGCTGAGGC	0.493													48	64					0	0	1	0	0	A	31984647	G	A	31984647	3	1	88	1	0	0	0	0	1	0	0	0	3167	1000	35	3	1591	3	CDK5RAP1	20	31984647	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		31984647	31040873	30	1614											
R3HDML	140902	broad.mit.edu	37	20	42965958	42965958	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:42965958G>A	ENST00000217043.2	+	1	333	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	54						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTACCGCCGGAAGCGCCAC	0.592													25	28					0	0	1	0	0	A	42965958	G	A	42965958	3	1	88	1	0	0	0	0	1	0	0	0	12941	1116	39	2	163	2	R3HDML	20	42965958	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	10981311	42965958	20059562	31	1615											
CECR5	27440	broad.mit.edu	37	22	17619599	17619599	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr22:17619599A>G	ENST00000336737.4	-	7	801	c.776T>C	c.(775-777)cTg>cCg	p.L259P	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	259							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AATGGTTTCCAGGCACAGCAG	0.542													56	92					0	0	1	0	0	G	17619599	A	G	17619599	3	3	88	1	0	0	0	0	1	0	0	0	3229	188	7	4	503	4	CECR5	22	17619599	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08		17619599	33684967	32	1616											
ATRX	546	broad.mit.edu	37	X	76937831	76937834	+	Frame_Shift_Del	DEL	GGTC	GGTC	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chrX:76937831_76937834delGGTC	ENST00000373344.5	-	9	3128_3131	c.2914_2917delGACC	c.(2914-2919)agfs	p.DQ972fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	972					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCATCGCTCTGGTCTTTCTTTAGG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						179	37	---	---	---	---						-	76937834	GGTC	-	76937831	7	5	88	1	0	1	0	1	0	0	0	0	1206	1357	47	0	4669	0	ATRX	23	76937831	Frame_Shift_Del	DEL	GGTC	TCGA-RW-A8AZ-01A-11D-A35D-08		76937831	78332729	33	1617											
DNAH7	56171	broad.mit.edu	37	2	196737103	196737103	+	Missense_Mutation	SNP	C	C	G			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr2:196737103C>G	ENST00000312428.6	-	40	6604	c.6504G>C	c.(6502-6504)ttG>ttC	p.L2168F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2168	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGAGTAGGCAAGAGATTCT	0.368													8	106					0	0	1	0	0	G	196737103	C	G	196737103	3	3	89	1	0	0	0	0	1	0	0	0	4633	709	25	5	5674	5	DNAH7	2	196737103	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		196737103	46462270	1	1618											
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				70	45					0	0	1	0	0	G	140481402	C	G	140481402	3	3	89	1	0	0	0	0	1	0	0	0	1498	855	30	5	926	5	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		140481402	18657261	2	1619											
PRUNE2	158471	broad.mit.edu	37	9	79324952	79324952	+	Missense_Mutation	SNP	C	C	G			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr9:79324952C>G	ENST00000428286.1	-	8	2361	c.1161G>C	c.(1159-1161)gaG>gaC	p.E387D	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E746D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	746					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGTGACTTCTCCATGGGCA	0.498													7	15					0	0	1	0	0	G	79324952	C	G	79324952	3	3	89	1	0	0	0	0	1	0	0	0	12690	912	32	5	7076	5	PRUNE2	9	79324952	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		79324952	61888479	3	1620											
PARD3	56288	broad.mit.edu	37	10	34985327	34985327	+	Silent	SNP	C	C	T			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr10:34985327C>T	ENST00000374789.3	-	2	466	c.141G>A	c.(139-141)caG>caA	p.Q47Q	PARD3_ENST00000346874.4_Silent_p.Q47Q|PARD3_ENST00000350537.4_Silent_p.Q47Q|PARD3_ENST00000374788.3_Silent_p.Q47Q|PARD3_ENST00000374773.1_Silent_p.Q47Q|PARD3_ENST00000374776.1_Silent_p.Q47Q|PARD3_ENST00000340077.5_Silent_p.Q47Q|PARD3_ENST00000545693.1_Silent_p.Q47Q|PARD3_ENST00000374790.3_Silent_p.Q47Q|PARD3_ENST00000545260.1_Silent_p.Q47Q|PARD3_ENST00000374794.3_Silent_p.Q47Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	47					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGCGATGCACCTGTATCCAGT	0.413													4	105					0	0	1	0	0	T	34985327	C	T	34985327	2	4	89	1	0	0	0	0	0	0	0	1	11490	680	24	3		3	PARD3	10	34985327	Silent	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		34985327	100549420	4	1621											
B4GALNT4	338707	broad.mit.edu	37	11	376159	376159	+	Missense_Mutation	SNP	C	C	T			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr11:376159C>T	ENST00000329962.6	+	12	1181	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	394						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGAGTCTCCGCTGTATCTG	0.672													11	19					0	0	1	0	0	T	376159	C	T	376159	3	4	89	1	0	0	0	0	1	0	0	0	1267	652	23	2	1227	2	B4GALNT4	11	376159	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		376159	134630357	5	1622											
PCDH8	5100	broad.mit.edu	37	13	53421442	53421444	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr13:53421442_53421444delGCG	ENST00000377942.3	-	1	1331_1333	c.1128_1130delCGC	c.(1126-1131)gct>gc	p.AA376del	PCDH8_ENST00000338862.4_In_Frame_Del_p.AA376del	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	376					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGAGTGCAGCGGCGGCGGCGG	0.759													2	4	---	---	---	---						-	53421444	GCG	-	53421442	7	5	89	1	0	1	0	1	0	0	0	0	11564	971	34	0	2094	0	PCDH8	13	53421442	In_Frame_Del	DEL	GCG	TCGA-RX-A8JQ-01A-11D-A35D-08		53421442	61748436	6	1623											
ALOX15B	247	broad.mit.edu	37	17	7948675	7948675	+	Silent	SNP	C	C	T			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr17:7948675C>T	ENST00000380183.4	+	7	1108	c.969C>T	c.(967-969)tgC>tgT	p.C323C	ALOX15B_ENST00000573359.1_Silent_p.C323C|ALOX15B_ENST00000572022.1_Silent_p.C323C|ALOX15B_ENST00000380173.2_Silent_p.C323C	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	323	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCCCAGGCTGCGGGCCGCTGC	0.592													14	28					0	0	1	0	0	T	7948675	C	T	7948675	2	4	89	1	0	0	0	0	0	0	0	1	535	776	27	1		1	ALOX15B	17	7948675	Silent	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		7948675	73246535	7	1624											
IKZF3	22806	broad.mit.edu	37	17	37922252	37922252	+	Missense_Mutation	SNP	C	C	T			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr17:37922252C>T	ENST00000346872.3	-	8	1382	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	IKZF3_ENST00000583368.1_Missense_Mutation_p.V194M|IKZF3_ENST00000377958.2_Missense_Mutation_p.V354M|IKZF3_ENST00000351680.3_Missense_Mutation_p.V402M|IKZF3_ENST00000439167.2_Missense_Mutation_p.V368M|IKZF3_ENST00000467757.1_Missense_Mutation_p.V385M|IKZF3_ENST00000439016.2_Missense_Mutation_p.V346M|IKZF3_ENST00000350532.3_Missense_Mutation_p.V402M|IKZF3_ENST00000535189.1_Missense_Mutation_p.V407M|IKZF3_ENST00000377952.2_Missense_Mutation_p.V220M|IKZF3_ENST00000377944.3_Missense_Mutation_p.V298M|IKZF3_ENST00000346243.3_Missense_Mutation_p.V363M|IKZF3_ENST00000377945.3_Missense_Mutation_p.V307M|IKZF3_ENST00000394189.2_Missense_Mutation_p.V259M	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	441					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGTTGATCACTTTGACGGAG	0.572													8	94					0	0	1	0	0	T	37922252	C	T	37922252	3	4	89	1	0	0	0	0	1	0	0	0	7660	565	20	3	212	3	IKZF3	17	37922252	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08	29973577	37922252	43272958	8	1625											
GNA11	2767	broad.mit.edu	37	19	3115013	3115013	+	Missense_Mutation	SNP	G	G	A			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr19:3115013G>A	ENST00000078429.4	+	4	790	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R183H(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTGCGGGTCCGCGTGCCCACC	0.672			Mis		uveal melanoma								7	111					0	0	1	0	0	A	3115013	G	A	3115013	3	1	89	1	0	0	0	0	1	0	0	0	6541	1087	38	1	562	1	GNA11	19	3115013	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08		3115013	56013970	9	1626											
FFAR2	2867	broad.mit.edu	37	19	35940863	35940863	+	Missense_Mutation	SNP	G	G	A			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr19:35940863G>A	ENST00000599180.1	+	2	327	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A83T			O15552	FFAR2_HUMAN	free fatty acid receptor 2	83						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTCGTCTGCGCCCTCACGAG	0.627													4	26					0	0	1	0	0	A	35940863	G	A	35940863	3	1	89	1	0	0	0	0	1	0	0	0	5861	1087	38	1	249	1	FFAR2	19	35940863	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08	32825850	35940863	23188120	10	1627											
PRAME	23532	broad.mit.edu	37	22	22893373	22893373	+	Missense_Mutation	SNP	G	G	A			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr22:22893373G>A	ENST00000543184.1	-	3	1022	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	PRAME_ENST00000398741.1_Missense_Mutation_p.P54S|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000539862.1_Missense_Mutation_p.P38S|PRAME_ENST00000424204.2_Missense_Mutation_p.P38S|PRAME_ENST00000406503.1_Missense_Mutation_p.P54S|PRAME_ENST00000398743.2_Missense_Mutation_p.P54S|PRAME_ENST00000405655.3_Missense_Mutation_p.P54S|PRAME_ENST00000402697.1_Missense_Mutation_p.P54S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	54					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAGAGTGGCGGGAAGAGCTCC	0.637													3	39					0	0	1	0	0	A	22893373	G	A	22893373	3	1	89	1	0	0	0	0	1	0	0	0	12473	1232	43	3	1381	3	PRAME	22	22893373	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08		22893373	28411193	11	1628											
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr1:153312923C>T	ENST00000368739.3	-	7	1104	c.746G>A	c.(745-747)cGc>cAc	p.R249H	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542													6	68					0	0	1	0	0	T	153312923	C	T	153312923	3	4	90	1	0	0	0	0	1	0	0	0	11844	768	27	1	375	1	PGLYRP4	1	153312923	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		153312923	95937698	1	1629											
GREB1	9687	broad.mit.edu	37	2	11755408	11755408	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:11755408G>C	ENST00000381486.2	+	20	3614	c.3314G>C	c.(3313-3315)gGg>gCg	p.G1105A	GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A|GREB1_ENST00000396123.1_Missense_Mutation_p.G103A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1105						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGAGCTGGGGACAGAAGGT	0.567													5	3					0	0	1	0	0	C	11755408	G	C	11755408	3	2	90	1	0	0	0	0	1	0	0	0	6801	1232	43	5	3496	5	GREB1	2	11755408	Missense_Mutation	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08		11755408	231443965	2	1630											
KYNU	8942	broad.mit.edu	37	2	143715264	143715264	+	Missense_Mutation	SNP	C	C	T	rs147103103		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:143715264C>T	ENST00000264170.4	+	7	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KYNU_ENST00000409512.1_Missense_Mutation_p.R188W|KYNU_ENST00000375773.2_Missense_Mutation_p.R188W	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	188			R -> Q (in dbSNP:rs2304705).		anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGAAAGTATGCGGATGATAAA	0.308													3	49					0	0	1	0	0	T	143715264	C	T	143715264	3	4	90	1	0	0	0	0	1	0	0	0	8626	759	27	1	584	1	KYNU	2	143715264	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	131959856	143715264	99484109	3	1631											
COL21A1	0	broad.mit.edu	37	6	55966307	55966307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:55966307delG	ENST00000244728.5	-	17	2172	c.1775delC	c.(1774-1776)ctfs	p.P592fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	592	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGAGCACCAGGGGATCCTGC	0.383													2	4	---	---	---	---						-	55966307	G	-	55966307	7	5	90	1	0	1	0	1	0	0	0	0	3703	1000	35	0	1154	0	COL21A1	6	55966307	Frame_Shift_Del	DEL	G	TCGA-S7-A7WL-01A-11D-A35I-08		55966307	115148760	4	1632											
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													4	243					0	0	1	0	0	A	112522827	G	A	112522827	3	1	90	1	0	0	0	0	1	0	0	0	8647	971	34	3	5126	3	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08	56556520	112522827	58592240	5	1633											
ACAT2	39	broad.mit.edu	37	6	160184039	160184039	+	Silent	SNP	T	T	G			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:160184039T>G	ENST00000367048.4	+	2	1904	c.144T>G	c.(142-144)gcT>gcG	p.A48A	ACAT2_ENST00000541436.1_Silent_p.A77A	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	48						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCACTGTGGCTCCGGAAGATG	0.488													13	78					0	0	1	0	0	G	160184039	T	G	160184039	2	3	90	1	0	0	0	0	0	0	0	1	122	1538	54	5		5	ACAT2	6	160184039	Silent	SNP	T	TCGA-S7-A7WL-01A-11D-A35I-08	47661212	160184039	10931028	6	1634											
EPO	2056	broad.mit.edu	37	7	100320669	100320669	+	Silent	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr7:100320669C>T	ENST00000252723.2	+	5	676	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	165					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTGACACTTTCCGCAAACTCT	0.567													86	45					0	0	1	0	0	T	100320669	C	T	100320669	2	4	90	1	0	0	0	0	0	0	0	1	5216	854	30	3		3	EPO	7	100320669	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		100320669	58817994	7	1635											
TLE4	7091	broad.mit.edu	37	9	82308561	82308561	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr9:82308561T>C	ENST00000376520.4	+	8	1433	c.605T>C	c.(604-606)cTc>cCc	p.L202P	TLE4_ENST00000376544.3_Missense_Mutation_p.L202P|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376552.2_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Intron			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAGACAAACTCAACCACAAA	0.433													7	11					0	0	1	0	0	C	82308561	T	C	82308561	3	2	90	1	0	0	0	0	1	0	0	0	16001	1566	54	4		4	TLE4	9	82308561	Missense_Mutation	SNP	T	TCGA-S7-A7WL-01A-11D-A35I-08		82308561	58904870	8	1636											
ZNF510	22869	broad.mit.edu	37	9	99521448	99521448	+	Missense_Mutation	SNP	C	C	T	rs143262029		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr9:99521448C>T	ENST00000375231.1	-	6	2314	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATGATCTTTTCGCCAGAAGGA	0.413													20	77					0	0	1	0	0	T	99521448	C	T	99521448	3	4	90	1	0	0	0	0	1	0	0	0	18011	884	31	2	391	2	ZNF510	9	99521448	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	17212887	99521448	41691983	9	1637											
PLCB3	5331	broad.mit.edu	37	11	64033973	64033980	+	Frame_Shift_Del	DEL	GACGGAGA	GACGGAGA	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:64033973_64033980delGACGGAGA	ENST00000540288.1	+	29	3466_3473	c.3363_3370delGACGGAGA	c.(3361-3372)ctttfs	p.LTEI1121fs	PLCB3_ENST00000325234.5_Frame_Shift_Del_p.LTEI1054fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.LTEI1121fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1121					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCAGGGAACTGACGGAGATTAACCGTCG	0.644													13	27	---	---	---	---						-	64033980	GACGGAGA	-	64033973	7	5	90	1	0	1	0	1	0	0	0	0	12077	1277	45	0	3477	0	PLCB3	11	64033973	Frame_Shift_Del	DEL	GACGGAGA	TCGA-S7-A7WL-01A-11D-A35I-08		64033973	70972543	10	1638											
EHBP1L1	254102	broad.mit.edu	37	11	65352540	65352540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:65352540delC	ENST00000309295.4	+	12	3676	c.3411delC	c.(3409-3411)atfs	p.I1137fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1137	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTGCCAGATCCGCGCCTTCT	0.716													2	4	---	---	---	---						-	65352540	C	-	65352540	7	5	90	1	0	1	0	1	0	0	0	0	5002	845	30	0	3457	0	EHBP1L1	11	65352540	Frame_Shift_Del	DEL	C	TCGA-S7-A7WL-01A-11D-A35I-08	1318567	65352540	69653976	11	1639											
ATF1	466	broad.mit.edu	37	12	51213461	51213461	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr12:51213461A>C	ENST00000262053.3	+	7	737	c.715A>C	c.(715-717)Aaa>Caa	p.K239Q	ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	239					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AGAATATGTGAAATGCCTGGA	0.313			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								18	29					0	0	1	0	0	C	51213461	A	C	51213461	3	2	90	1	0	0	0	0	1	0	0	0	1078	247	9	5	737	5	ATF1	12	51213461	Missense_Mutation	SNP	A	TCGA-S7-A7WL-01A-11D-A35I-08		51213461	82638434	12	1640											
REM2	161253	broad.mit.edu	37	14	23354529	23354529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23354529delT	ENST00000267396.4	+	3	623	c.500delT	c.(499-501)gtfs	p.V167fs	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	167					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ACTCTAGTCGTTTATGACATC	0.507													19	45	---	---	---	---						-	23354529	T	-	23354529	7	5	90	1	0	1	0	1	0	0	0	0	13275	1725	60	0	510	0	REM2	14	23354529	Frame_Shift_Del	DEL	T	TCGA-S7-A7WL-01A-11D-A35I-08		23354529	83995011	13	1641											
RBM23	0	broad.mit.edu	37	14	23371511	23371511	+	Silent	SNP	G	G	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23371511G>A	ENST00000359890.3	-	11	1206	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	RBM23_ENST00000555209.1_Silent_p.G87G|RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000346528.5_Silent_p.G303G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	337	RRM 2.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CAGTCACATGGCCAACCCTCA	0.552													3	38					0	0	1	0	0	A	23371511	G	A	23371511	2	1	90	1	0	0	0	0	0	0	0	1	13175	1190	42	3		3	RBM23	14	23371511	Silent	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08	16982	23371511	83978029	14	1642											
MAP1A	4130	broad.mit.edu	37	15	43820463	43820463	+	Silent	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr15:43820463C>T	ENST00000382031.1	+	5	7537	c.7506C>T	c.(7504-7506)acC>acT	p.T2502T	MAP1A_ENST00000399453.1_Silent_p.T2264T|MAP1A_ENST00000300231.5_Silent_p.T2264T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2264						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGAGGCTACCACGCCTGTGA	0.622													42	38					0	0	1	0	0	T	43820463	C	T	43820463	2	4	90	1	0	0	0	0	0	0	0	1	9277	581	21	3		3	MAP1A	15	43820463	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		43820463	58710929	15	1643											
KIAA0556	23247	broad.mit.edu	37	16	27751697	27751697	+	Silent	SNP	C	C	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:27751697C>A	ENST00000261588.4	+	15	2098	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	693										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACAGTTTGTCCCAGTTAGAGG	0.498													4	96					1.23904e-05	1.28034e-05	1	1	0	A	27751697	C	A	27751697	2	1	90	1	0	0	0	0	0	0	0	1	8225	610	22	5		5	KIAA0556	16	27751697	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		27751697	62603056	16	1644											
CHST5	23563	broad.mit.edu	37	16	75563184	75563184	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:75563184C>T	ENST00000336257.3	-	3	2493	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V373M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	367					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCTCCTGCACGCGCAGGATC	0.652													13	23					0	0	1	0	0	T	75563184	C	T	75563184	3	4	90	1	0	0	0	0	1	0	0	0	3429	536	19	1	140	1	CHST5	16	75563184	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	47811487	75563184	14791569	17	1645											
NF1	4763	broad.mit.edu	37	17	29533281	29533293	+	Frame_Shift_Del	DEL	GATTGATGCTGTG	GATTGATGCTGTG	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr17:29533281_29533293delGATTGATGCTGTG	ENST00000358273.4	+	12	1667_1679	c.1284_1296delGATTGATGCTGTG	c.(1282-1296)aafs	p.KIDAV428fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	428					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTGGCCTAAGATTGATGCTGTGTATTGTCACT	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	10	---	---	---	---						-	29533293	GATTGATGCTGTG	-	29533281	7	5	90	1	0	1	0	1	0	0	0	0	10403	933	33	0	1330	0	NF1	17	29533281	Frame_Shift_Del	DEL	GATTGATGCTGTG	TCGA-S7-A7WL-01A-11D-A35I-08		29533281	51661929	18	1646											
APC2	10297	broad.mit.edu	37	19	1465635	1465637	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:1465635_1465637delGAC	ENST00000535453.1	+	14	4048_4050	c.2335_2337delGAC	c.(2335-2337)del	p.D782del	APC2_ENST00000238483.4_In_Frame_Del_p.D508del|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	782					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTGCTTTGACGACGACGATG	0.719													2	4	---	---	---	---						-	1465637	GAC	-	1465635	7	5	90	1	0	1	0	1	0	0	0	0	760	1290	45	0	2389	0	APC2	19	1465635	In_Frame_Del	DEL	GAC	TCGA-S7-A7WL-01A-11D-A35I-08		1465635	57663348	19	1647											
ANKRD27	84079	broad.mit.edu	37	19	33116849	33116849	+	Frame_Shift_Del	DEL	G	G	-	rs35109898	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:33116849delG	ENST00000306065.4	-	17	1718	c.1560delC	c.(1558-1560)gcfs	p.A520fs		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	520					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTCCGCGCTGGCCTTGTAGT	0.647													2	4	---	---	---	---						-	33116849	G	-	33116849	7	5	90	1	0	1	0	1	0	0	0	0	651	1335	47	0	1644	0	ANKRD27	19	33116849	Frame_Shift_Del	DEL	G	TCGA-S7-A7WL-01A-11D-A35I-08	31651214	33116849	26012134	20	1648											
RBL1	5933	broad.mit.edu	37	20	35632208	35632208	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr20:35632208C>T	ENST00000373664.3	-	21	2999	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	RBL1_ENST00000344359.3_Missense_Mutation_p.R978H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	978					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGGGAAATGCGGCGTGGTGA	0.453													3	47					0	0	1	0	0	T	35632208	C	T	35632208	3	4	90	1	0	0	0	0	1	0	0	0	13161	768	27	1	290	1	RBL1	20	35632208	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		35632208	27393312	21	1649											
MECP2	4204	broad.mit.edu	37	X	153296731	153296731	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chrX:153296731C>T	ENST00000303391.6	-	4	797	c.548G>A	c.(547-549)gGa>gAa	p.G183E	MECP2_ENST00000407218.1_Missense_Mutation_p.E147K|MECP2_ENST00000453960.2_Missense_Mutation_p.G195E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	183					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCAGTTCCTGGAGCTTT	0.597													10	45					0	0	1	0	0	T	153296731	C	T	153296731	3	4	90	1	0	0	0	0	1	0	0	0	9473	855	30	3	916	3	MECP2	23	153296731	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		153296731	1973829	22	1650											
CNTN2	6900	broad.mit.edu	37	1	205031578	205031578	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:205031578A>T	ENST00000331830.4	+	10	1405	c.1121A>T	c.(1120-1122)gAg>gTg	p.E374V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	374	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCGGGTGGAGGTGTTGGCT	0.622													19	36					0	0	1	0	0	T	205031578	A	T	205031578	3	4	91	1	0	0	0	0	1	0	0	0	3664	304	11	5	1155	5	CNTN2	1	205031578	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		205031578	44219043	1	1651											
AHCTF1	25909	broad.mit.edu	37	1	247014132	247014132	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:247014132T>C	ENST00000366508.1	-	33	5417	c.5281A>G	c.(5281-5283)Atg>Gtg	p.M1761V	AHCTF1_ENST00000391829.2_Missense_Mutation_p.M1726V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1726	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGACATTCATAGTCATTGTG	0.413													18	43					0	0	1	0	0	C	247014132	T	C	247014132	3	2	91	1	0	0	0	0	1	0	0	0	405	1406	49	4	1640	4	AHCTF1	1	247014132	Missense_Mutation	SNP	T	TCGA-S7-A7WM-01A-12D-A35I-08	41982554	247014132	2236489	2	1652											
AFTPH	54812	broad.mit.edu	37	2	64800181	64800181	+	Silent	SNP	A	A	G			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:64800181A>G	ENST00000422803.1	+	6	2687	c.2373A>G	c.(2371-2373)acA>acG	p.T791T	AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Silent_p.T791T|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T			Q6ULP2	AFTIN_HUMAN	aftiphilin	791					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATATGAACACATGTACATCTG	0.388													51	68					0	0	1	0	0	G	64800181	A	G	64800181	2	3	91	1	0	0	0	0	0	0	0	1	363	204	8	4		4	AFTPH	2	64800181	Silent	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		64800181	178399192	3	1653											
TTN	7273	broad.mit.edu	37	2	179611732	179611732	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:179611732G>A	ENST00000360870.5	-	46	15617	c.15395C>T	c.(15394-15396)aCa>aTa	p.T5132I	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1238							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGATATGTTTTAAAAGT	0.453													11	82					0	0	1	0	0	A	179611732	G	A	179611732	3	1	91	1	0	0	0	0	1	0	0	0	16797	1377	48	3	94902	3	TTN	2	179611732	Missense_Mutation	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08	114811551	179611732	63587641	4	1654											
SDHA	6389	broad.mit.edu	37	5	256498	256498	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr5:256498A>C	ENST00000264932.6	+	15	2073	c.1958A>C	c.(1957-1959)gAc>gCc	p.D653A	SDHA_ENST00000510361.1_Missense_Mutation_p.D605A|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.D572A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	653					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACGAGGCTGACTGTGCCACC	0.433									Familial Paragangliomas				4	62					0	0	1	0	0	C	256498	A	C	256498	3	2	91	1	0	0	0	0	1	0	0	0	14017	275	10	5	2016	5	SDHA	5	256498	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		256498	180658762	5	1655											
SERPINB9	5272	broad.mit.edu	37	6	2893754	2893754	+	Missense_Mutation	SNP	A	A	G	rs144457124	byFrequency	TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr6:2893754A>G	ENST00000380698.4	-	5	547	c.458T>C	c.(457-459)aTt>aCt	p.I153T		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	153					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTCTGCATCAATTGAGCTACC	0.398													30	55					0	0	1	0	0	G	2893754	A	G	2893754	3	3	91	1	0	0	0	0	1	0	0	0	14162	101	4	4	684	4	SERPINB9	6	2893754	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		2893754	168221313	6	1656											
ABCA13	154664	broad.mit.edu	37	7	48258974	48258974	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr7:48258974C>T	ENST00000435803.1	+	4	335	c.311C>T	c.(310-312)gCt>gTt	p.A104V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	104					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTGCAGCTGACCCCAAG	0.353													13	24					0	0	1	0	0	T	48258974	C	T	48258974	3	4	91	1	0	0	0	0	1	0	0	0	31	797	28	3	154	3	ABCA13	7	48258974	Missense_Mutation	SNP	C	TCGA-S7-A7WM-01A-12D-A35I-08		48258974	110879689	7	1657											
FAM73B	84895	broad.mit.edu	37	9	131832580	131832580	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr9:131832580A>C	ENST00000358369.4	+	16	1856	c.1630A>C	c.(1630-1632)Acg>Ccg	p.T544P	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	544						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGTGCGCTACACGTCACTGCC	0.672													14	26					0	0	1	0	0	C	131832580	A	C	131832580	3	2	91	1	0	0	0	0	1	0	0	0	5652	159	6	5	1688	5	FAM73B	9	131832580	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		131832580	9380851	8	1658											
GNB3	2784	broad.mit.edu	37	12	6954872	6954872	+	Silent	SNP	G	G	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:6954872G>T	ENST00000229264.3	+	10	1227	c.822G>T	c.(820-822)acG>acT	p.T274T	GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	274					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCGGCATCACGTCCGTGGCCT	0.592													5	117					1.23904e-05	1.36947e-05	1	1	0	T	6954872	G	T	6954872	2	4	91	1	0	0	0	0	0	0	0	1	6561	1132	40	5		5	GNB3	12	6954872	Silent	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08		6954872	126897023	9	1659											
LRRIQ1	84125	broad.mit.edu	37	12	85450448	85450448	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:85450448A>G	ENST00000393217.2	+	8	1938	c.1877A>G	c.(1876-1878)gAa>gGa	p.E626G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	626										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGTAAGAGAAAACGTAATA	0.289													11	6					0	0	1	0	0	G	85450448	A	G	85450448	3	3	91	1	0	0	0	0	1	0	0	0	9074	246	9	4	1903	4	LRRIQ1	12	85450448	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08	78495576	85450448	48401447	10	1660											
SEMA6D	80031	broad.mit.edu	37	15	48056089	48056089	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr15:48056089G>A	ENST00000316364.5	+	10	1229	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	264	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAACGACATGGGTGGTTCCCA	0.488													10	78					0	0	1	0	0	A	48056089	G	A	48056089	3	1	91	1	0	0	0	0	1	0	0	0	14096	1232	43	3	824	3	SEMA6D	15	48056089	Missense_Mutation	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08		48056089	54475303	11	1661											
NF1	4763	broad.mit.edu	37	17	29541548	29541549	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:29541548_29541549insTT	ENST00000358273.4	+	13	1855_1856	c.1472_1473insTT	c.(1471-1473)tctfs	p.S491fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.S491fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.S491fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	491			Y -> C (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCTATAAGTATCTTCTCTTGT	0.297			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			21	12	---	---	---	---						TT	29541549	-	TT	29541548	7	5	91	1	0	1	1	0	0	0	0	0	10403	449	16	0	1522	0	NF1	17	29541548	Frame_Shift_Ins	INS	-	TCGA-S7-A7WM-01A-12D-A35I-08		29541548	51653662	12	1662											
TMEM105	284186	broad.mit.edu	37	17	79287591	79287591	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:79287591G>T	ENST00000332900.1	-	3	799	c.250C>A	c.(250-252)Cat>Aat	p.H84N		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	84						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGCCCTTCATGTCTTCGCCTT	0.652													31	59					6.38683e-12	7.4513e-12	1	1	0	T	79287591	G	T	79287591	3	4	91	1	0	0	0	0	1	0	0	0	16079	1377	48	5	143	5	TMEM105	17	79287591	Missense_Mutation	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08	49746043	79287591	1907619	13	1663											
GTPBP1	9567	broad.mit.edu	37	22	39101968	39101968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr22:39101968delC	ENST00000216044.5	+	1	241	c.8delC	c.(7-9)agfs	p.T3fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	3					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAGATGGCGACGGAGCGCAGT	0.672													2	4	---	---	---	---						-	39101968	C	-	39101968	7	5	91	1	0	1	0	1	0	0	0	0	6919	536	19	0	10	0	GTPBP1	22	39101968	Frame_Shift_Del	DEL	C	TCGA-S7-A7WM-01A-12D-A35I-08		39101968	12202598	14	1664											
GNAI3	2773	broad.mit.edu	37	1	110091364	110091364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:110091364delG	ENST00000369851.4	+	1	132	c.22delG	c.(22-24)aafs	p.E8fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	8					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTTGAGCGCCGAAGACAAGGC	0.642													2	4	---	---	---	---						-	110091364	G	-	110091364	7	5	92	1	0	1	0	1	0	0	0	0	6548	1059	37	0	24	0	GNAI3	1	110091364	Frame_Shift_Del	DEL	G	TCGA-S7-A7WN-01A-12D-A35I-08		110091364	139159257	1	1665											
ITGA10	8515	broad.mit.edu	37	1	145532464	145532464	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:145532464G>C	ENST00000369304.3	+	9	1092	c.917G>C	c.(916-918)gGt>gCt	p.G306A	ITGA10_ENST00000539363.1_Missense_Mutation_p.G163A|ITGA10_ENST00000538811.1_Missense_Mutation_p.G175A|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	306	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGTCCTTGGTCACTACCTC	0.458													10	48					0	0	1	0	0	C	145532464	G	C	145532464	3	2	92	1	0	0	0	0	1	0	0	0	7917	1261	44	5	951	5	ITGA10	1	145532464	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08	35441100	145532464	103718157	2	1666											
LYST	1130	broad.mit.edu	37	1	235929422	235929422	+	Nonsense_Mutation	SNP	G	G	T	rs80338660		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:235929422G>T	ENST00000389794.3	-	21	6252	c.6078C>A	c.(6076-6078)taC>taA	p.Y2026*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Y2026*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2026					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGACAAACGTAAGTATTAG	0.343													6	138					5.18039e-06	5.18039e-06	1	1	0	T	235929422	G	T	235929422	4	4	92	1	0	0	0	0	0	1	0	0	9174	1140	40	5	5459	5	LYST	1	235929422	Nonsense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08	90396958	235929422	13321199	3	1667											
NFKB1	4790	broad.mit.edu	37	4	103516122	103516122	+	Silent	SNP	T	T	C			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr4:103516122T>C	ENST00000226574.4	+	13	1751	c.1284T>C	c.(1282-1284)aaT>aaC	p.N428N	NFKB1_ENST00000600343.1_Silent_p.N247N|NFKB1_ENST00000505458.1_Silent_p.N427N|NFKB1_ENST00000394820.4_Silent_p.N427N	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	427	Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTAAATCTAATGCTGGGATGA	0.333													24	42					0	0	1	0	0	C	103516122	T	C	103516122	2	2	92	1	0	0	0	0	0	0	0	1	10422	1461	51	4		4	NFKB1	4	103516122	Silent	SNP	T	TCGA-S7-A7WN-01A-12D-A35I-08		103516122	87638154	4	1668											
SORBS2	8470	broad.mit.edu	37	4	186544639	186544639	+	Silent	SNP	A	A	G			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr4:186544639A>G	ENST00000431808.1	-	14	2495	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000418609.1_Silent_p.H548H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtgatggtggtggt	0.522													3	38					0	0	1	0	0	G	186544639	A	G	186544639	2	3	92	1	0	0	0	0	0	0	0	1	14982	330	12	4		4	SORBS2	4	186544639	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08	83028517	186544639	4609637	5	1669											
ERCC8	1161	broad.mit.edu	37	5	60214156	60214156	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr5:60214156G>A	ENST00000426742.2	-	5	595	c.161C>T	c.(160-162)aCt>aTt	p.T54I	AC104113.3_ENST00000457499.1_RNA|ERCC8_ENST00000265038.5_Missense_Mutation_p.T112I|ERCC8_ENST00000543101.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	112					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GAACATGCCAGTGTCATGAGG	0.348													17	41					0	0	1	0	0	A	60214156	G	A	60214156	3	1	92	1	0	0	0	0	1	0	0	0	5247	1029	36	3	891	3	ERCC8	5	60214156	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		60214156	120701104	6	1670											
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	39					0	0	1	0	0	G	45390466	A	G	45390466	2	3	92	1	0	0	0	0	0	0	0	1	13800	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08		45390466	125724601	7	1671											
DGAT1	8694	broad.mit.edu	37	8	145541987	145541987	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr8:145541987A>G	ENST00000332324.4	-	7	886	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L	DGAT1_ENST00000531896.1_Missense_Mutation_p.F205L	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	205					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTTGAGGAAGAGGATGGTG	0.692													10	22					0	0	1	0	0	G	145541987	A	G	145541987	3	3	92	1	0	0	0	0	1	0	0	0	4485	72	3	4	897	4	DGAT1	8	145541987	Missense_Mutation	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08		145541987	822035	8	1672											
NOXA1	10811	broad.mit.edu	37	9	140327988	140327988	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr9:140327988delA	ENST00000341349.2	+	11	1173	c.993delA	c.(991-993)ggfs	p.G331fs	NOXA1_ENST00000392815.2_Frame_Shift_Del_p.G275fs	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	331	OPR.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CACGAAGAGGAGCCGACCTGT	0.701													2	4	---	---	---	---						-	140327988	A	-	140327988	7	5	92	1	0	1	0	1	0	0	0	0	10607	291	11	0	1035	0	NOXA1	9	140327988	Frame_Shift_Del	DEL	A	TCGA-S7-A7WN-01A-12D-A35I-08		140327988	885443	9	1673											
MARCH5	54708	broad.mit.edu	37	10	94109245	94109245	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr10:94109245G>A	ENST00000358935.2	+	4	841	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	170					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGACTGTGGCGCAAATACTCG	0.373													4	89					0	0	1	0	0	A	94109245	G	A	94109245	3	1	92	1	0	0	0	0	1	0	0	0	9354	1087	38	1	523	1	MARCH5	10	94109245	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		94109245	41425502	10	1674											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			35	15					0	0	1	0	0	C	533874	T	C	533874	3	2	92	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-S7-A7WN-01A-12D-A35I-08		533874	134472642	11	1675											
HSPA2	3306	broad.mit.edu	37	14	65007789	65007789	+	Silent	SNP	G	G	A			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr14:65007789G>A	ENST00000247207.6	+	1	604	c.222G>A	c.(220-222)ctG>ctA	p.L74L	HSPA2_ENST00000394709.1_Silent_p.L74L|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	74					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCAAGAGGCTGATTGGACGGA	0.597													12	21					0	0	1	0	0	A	65007789	G	A	65007789	2	1	92	1	0	0	0	0	0	0	0	1	7454	1277	45	3		3	HSPA2	14	65007789	Silent	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		65007789	42341751	12	1676											
TP53BP1	7158	broad.mit.edu	37	15	43712934	43712934	+	Splice_Site	SNP	C	C	G			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr15:43712934C>G	ENST00000263801.3	-	21	4488		c.e21-1		TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCTGTTTCTCTAAAGAGAGA	0.498								Other conserved DNA damage response genes					11	28					0	0	1	0	0	G	43712934	C	G	43712934	5	3	92	1	0	0	0	0	0	0	1	0	16444	927	32	5	1715	5	TP53BP1	15	43712934	Splice_Site	SNP	C	TCGA-S7-A7WN-01A-12D-A35I-08		43712934	58818458	13	1677											
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617													3	45					0	0	1	0	0	G	79059040	A	G	79059040	2	3	92	1	0	0	0	0	0	0	0	1	270	98	4	4		4	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08	35346106	79059040	23472352	14	1678											
MYO5B	4645	broad.mit.edu	37	18	47421443	47421443	+	Silent	SNP	C	C	T			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr18:47421443C>T	ENST00000285039.7	-	22	3212	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	MYO5B_ENST00000324581.6_Silent_p.Q112Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	971					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACCTGGGCTCTGCTGGTAGT	0.587													22	38					0	0	1	0	0	T	47421443	C	T	47421443	2	4	92	1	0	0	0	0	0	0	0	1	10127	912	32	3		3	MYO5B	18	47421443	Silent	SNP	C	TCGA-S7-A7WN-01A-12D-A35I-08		47421443	30655805	15	1679											
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													3	5	---	---	---	---						-	50350713	TCC	-	50350711	7	5	92	1	0	1	0	1	0	0	0	0	14351	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-S7-A7WN-01A-12D-A35I-08		50350711	104919849	16	1680											
SNTG2	54221	broad.mit.edu	37	2	1241771	1241771	+	Silent	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr2:1241771G>A	ENST00000308624.5	+	10	960	c.831G>A	c.(829-831)agG>agA	p.R277R	SNTG2_ENST00000407292.1_Silent_p.R150R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	277					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAACATCAGGGAGCTGACAC	0.537													7	6					0	0	1	0	0	A	1241771	G	A	1241771	2	1	93	1	0	0	0	0	0	0	0	1	14929	1223	43	3		3	SNTG2	2	1241771	Silent	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		1241771	241957602	1	1681											
GNA12	2768	broad.mit.edu	37	7	2771272	2771272	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr7:2771272C>T	ENST00000275364.3	-	4	851	c.689G>A	c.(688-690)gGc>gAc	p.G230D	GNA12_ENST00000396960.3_Missense_Mutation_p.G82D|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000491117.1_5'UTR	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	230					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGACCGCTGGCCGCCCACATC	0.542													4	125					0	0	1	0	0	T	2771272	C	T	2771272	3	4	93	1	0	0	0	0	1	0	0	0	6542	739	26	3	460	3	GNA12	7	2771272	Missense_Mutation	SNP	C	TCGA-S7-A7WO-01A-11D-A35I-08		2771272	156367391	2	1682											
ZNF207	7756	broad.mit.edu	37	17	30677312	30677312	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr17:30677312G>A	ENST00000394670.4	+	1	177	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R3H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	3						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTATGGGTCGCAAGAAGAAG	0.537													6	143					0	0	1	0	0	A	30677312	G	A	30677312	3	1	93	1	0	0	0	0	1	0	0	0	17823	1087	38	1	10	1	ZNF207	17	30677312	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		30677312	50517898	3	1683											
SIGLEC9	27180	broad.mit.edu	37	19	51628487	51628487	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr19:51628487G>A	ENST00000440804.3	+	1	323	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E86K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	86	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGTGTGGGAGGAGACTCGGGA	0.572													5	80					0	0	1	0	0	A	51628487	G	A	51628487	3	1	93	1	0	0	0	0	1	0	0	0	14370	1175	41	3	258	3	SIGLEC9	19	51628487	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		51628487	7500496	4	1684											
ACRC	93953	broad.mit.edu	37	X	70823569	70823569	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chrX:70823569G>C	ENST00000373695.1	+	7	979	c.442G>C	c.(442-444)Gct>Cct	p.A148P	ACRC_ENST00000373696.3_Missense_Mutation_p.A148P			Q96QF7	ACRC_HUMAN	acidic repeat containing	148	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATTCAGAAGCTCCCGACGA	0.483													8	256					0	0	1	0	0	C	70823569	G	C	70823569	3	2	93	1	0	0	0	0	1	0	0	0	171	971	34	5	468	5	ACRC	23	70823569	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		70823569	84446991	5	1685											
TRANK1	9881	broad.mit.edu	37	3	36893822	36893822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr3:36893822delC	ENST00000301807.6	-	13	4679	c.2782delG	c.(2782-2784)cafs	p.A928fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.A928fs|TRANK1_ENST00000429976.2_Frame_Shift_Del_p.A1478fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1478					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTCCAGATGCCAGATTGAGG	0.428													2	4	---	---	---	---						-	36893822	C	-	36893822	7	5	94	1	0	1	0	1	0	0	0	0	16515	739	26	0	4389	0	TRANK1	3	36893822	Frame_Shift_Del	DEL	C	TCGA-S7-A7WP-01A-11D-A35I-08		36893822	161128608	1	1686											
LGI2	55203	broad.mit.edu	37	4	25032205	25032205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr4:25032205delG	ENST00000382114.4	-	1	296	c.111delC	c.(109-111)ccfs	p.P37fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	37	LRRNT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCAAGTGGCGGGGCAGCGCG	0.706													3	5	---	---	---	---						-	25032205	G	-	25032205	7	5	94	1	0	1	0	1	0	0	0	0	8792	1103	39	0	1558	0	LGI2	4	25032205	Frame_Shift_Del	DEL	G	TCGA-S7-A7WP-01A-11D-A35I-08		25032205	166122071	2	1687											
TCTE1	202500	broad.mit.edu	37	6	44250125	44250125	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr6:44250125T>G	ENST00000371505.4	-	4	1140	c.1018A>C	c.(1018-1020)Aac>Cac	p.N340H	TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	340										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTAGCCAGGTTGAGCACACGC	0.602													17	67					0	0	1	0	0	G	44250125	T	G	44250125	3	3	94	1	0	0	0	0	1	0	0	0	15776	1812	63	5	495	5	TCTE1	6	44250125	Missense_Mutation	SNP	T	TCGA-S7-A7WP-01A-11D-A35I-08		44250125	126864942	3	1688											
ZFC3H1	196441	broad.mit.edu	37	12	72032295	72032295	+	Splice_Site	SNP	G	G	A			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr12:72032295G>A	ENST00000378743.3	-	7	1986	c.1627_splice	c.e7-1	p.A543_splice		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	543	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGTGAAGGAGCTGTAAAAAA	0.358													7	21					0	0	1	0	0	A	72032295	G	A	72032295	5	1	94	1	0	0	0	0	0	0	1	0	17691	985	34	3	4457	3	ZFC3H1	12	72032295	Splice_Site	SNP	G	TCGA-S7-A7WP-01A-11D-A35I-08		72032295	61819600	4	1689											
CACNA1H	8912	broad.mit.edu	37	16	1260066	1260066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr16:1260066delA	ENST00000348261.5	+	18	4024	c.3776delA	c.(3775-3777)ggfs	p.E1259fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.E1259fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.E1259fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1259					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AAAGTGCTGGAGCCCTACAAG	0.697													2	4	---	---	---	---						-	1260066	A	-	1260066	7	5	94	1	0	1	0	1	0	0	0	0	2563	304	11	0	3842	0	CACNA1H	16	1260066	Frame_Shift_Del	DEL	A	TCGA-S7-A7WP-01A-11D-A35I-08		1260066	89094687	5	1690											
GPRC5C	0	broad.mit.edu	37	17	72436724	72436724	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr17:72436724A>T	ENST00000392627.1	+	2	2070	c.944A>T	c.(943-945)cAc>cTc	p.H315L	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.H282L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	270						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AACAAGCAGCACAACAGTCCC	0.607													3	47					0	0	1	0	0	T	72436724	A	T	72436724	3	4	94	1	0	0	0	0	1	0	0	0	6767	159	6	5	958	5	GPRC5C	17	72436724	Missense_Mutation	SNP	A	TCGA-S7-A7WP-01A-11D-A35I-08		72436724	8758486	6	1691											
ATAD3B	83858	broad.mit.edu	37	1	1421933	1421933	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:1421933C>A	ENST00000308647.7	+	11	1215	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	367							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAAACTCGCCCTGCACTCAGG	0.617													6	36					6.40141e-05	6.67973e-05	1	1	0	A	1421933	C	A	1421933	3	1	95	1	0	0	0	0	1	0	0	0	1073	680	24	5	1141	5	ATAD3B	1	1421933	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		1421933	247828688	1	1692											
FAM131C	348487	broad.mit.edu	37	1	16385168	16385169	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:16385168_16385169insG	ENST00000375662.4	-	7	789_790	c.606_607insC	c.(604-609)cccacafs	p.T203fs	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	203										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGTGAGGGGCCGCTGG	0.653													2	4	---	---	---	---						G	16385169	-	G	16385168	7	5	95	1	0	1	1	0	0	0	0	0	5472	304	11	0	239	0	FAM131C	1	16385168	Frame_Shift_Ins	INS	-	TCGA-S7-A7WQ-01A-12D-A35I-08	14963235	16385168	232865453	2	1693											
AKR7A3	22977	broad.mit.edu	37	1	19615023	19615023	+	Silent	SNP	G	G	A	rs115242113	by1000genomes	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:19615023G>A	ENST00000361640.4	-	1	721	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	61					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.L61L(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGCCCCAGGCCGCCAAGG	0.692													4	15					0	0	1	0	0	A	19615023	G	A	19615023	2	1	95	1	0	0	0	0	0	0	0	1	473	991	35	3		3	AKR7A3	1	19615023	Silent	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08	3229855	19615023	229635598	3	1694											
STK40	83931	broad.mit.edu	37	1	36823840	36823840	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:36823840C>T	ENST00000359297.2	-	3	349	c.342_splice	c.e3+1	p.Q114_splice	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119_splice|STK40_ENST00000373132.3_Splice_Site_p.Q114_splice|STK40_ENST00000373129.3_Splice_Site_p.Q114_splice			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	114	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGCCGCTCACCTGGAAGAGGC	0.647													6	20					0	0	1	0	0	T	36823840	C	T	36823840	5	4	95	1	0	0	0	0	0	0	1	0	15363	695	24	3	997	3	STK40	1	36823840	Splice_Site	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	17208817	36823840	212426781	4	1695											
FAM107A	11170	broad.mit.edu	37	3	58552410	58552410	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr3:58552410G>A	ENST00000394481.1	-	5	898	c.340C>T	c.(340-342)Cca>Tca	p.P114S	FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S|FAM107A_ENST00000464064.1_3'UTR	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	114					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCCTTCTCTGGTGGTTTTTCC	0.537													13	43					0	0	1	0	0	A	58552410	G	A	58552410	3	1	95	1	0	0	0	0	1	0	0	0	5420	1261	44	3	98	3	FAM107A	3	58552410	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		58552410	139470020	5	1696											
SULT1E1	6783	broad.mit.edu	37	4	70713495	70713496	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr4:70713495_70713496delCA	ENST00000226444.3	-	6	623_624	c.511_512delTG	c.(511-513)gfs	p.W171fs		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ATGTTTATACCAGGAACCATAA	0.366													8	111	---	---	---	---						-	70713496	CA	-	70713495	7	5	95	1	0	1	0	1	0	0	0	0	15436	595	21	0	384	0	SULT1E1	4	70713495	Frame_Shift_Del	DEL	CA	TCGA-S7-A7WQ-01A-12D-A35I-08		70713495	120440781	6	1697											
TAF9	6880	broad.mit.edu	37	5	68661172	68661172	+	Silent	SNP	A	A	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr5:68661172A>C	ENST00000328663.4	-	3	859	c.393T>G	c.(391-393)tcT>tcG	p.S131S	TAF9_ENST00000506736.1_Silent_p.S131S|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.S131S	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTTTCTGTAAAGATTTCAGCC	0.443													9	165					0	0	1	0	0	C	68661172	A	C	68661172	2	2	95	1	0	0	0	0	0	0	0	1	15592	59	3	5		5	TAF9	5	68661172	Silent	SNP	A	TCGA-S7-A7WQ-01A-12D-A35I-08		68661172	112254088	7	1698											
CAGE1	285782	broad.mit.edu	37	6	7373788	7373788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr6:7373788C>A	ENST00000502583.1	-	5	1828	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	422										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATGTACCTTTCCTGTAAACAC	0.343													6	37					1.6384e-10	1.87246e-10	1	1	0	A	7373788	C	A	7373788	4	1	95	1	0	0	0	0	0	1	0	0	2590	864	30	5	1401	5	CAGE1	6	7373788	Nonsense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		7373788	163741279	8	1699											
SPON1	10418	broad.mit.edu	37	11	14284282	14284282	+	RNA	SNP	G	G	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284282G>T	ENST00000310358.7	+	0	2556							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTCACCGAGTGGTCCCAGTGG	0.517													5	16					0.0293803	0.0293803	1	1	0	T	14284282	G	T	14284282	1	4	95	0	1	0	0	0	0	0	0	0	15138	1357	47	5		5	SPON1	11	14284282	RNA	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		14284282	120722234	9	1700	13	2									
SPON1	10418	broad.mit.edu	37	11	14284285	14284285	+	RNA	SNP	C	C	G			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284285C>G	ENST00000310358.7	+	0	2559							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCGAGTGGTCCCAGTGGTCG	0.517													5	15					0	0	1	0	0	G	14284285	C	G	14284285	1	3	95	0	1	0	0	0	0	0	0	0	15138	855	30	5		5	SPON1	11	14284285	RNA	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	3	14284285	120722231	10	1701	13	2									
FADD	8772	broad.mit.edu	37	11	70052302	70052302	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:70052302G>C	ENST00000301838.4	+	2	647	c.350G>C	c.(349-351)cGt>cCt	p.R117P		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	117	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCTGGCTCGTCAGCTCAAA	0.498													5	11					0	0	1	0	0	C	70052302	G	C	70052302	3	2	95	1	0	0	0	0	1	0	0	0	5395	1145	40	5	356	5	FADD	11	70052302	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08	55768017	70052302	64954214	11	1702											
OR8A1	390275	broad.mit.edu	37	11	124440082	124440082	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:124440082C>T	ENST00000284287.3	+	1	190	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAGAGCAGACCTCCAGCTCCC	0.527													23	13					0	0	1	0	0	T	124440082	C	T	124440082	3	4	95	1	0	0	0	0	1	0	0	0	11272	681	24	3	120	3	OR8A1	11	124440082	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	54387780	124440082	10566434	12	1703											
IGF1R	3480	broad.mit.edu	37	15	99486194	99486194	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr15:99486194G>A	ENST00000268035.6	+	19	4111	c.3500G>A	c.(3499-3501)cGg>cAg	p.R1167Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1167	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GACTATTACCGGAAAGGAGGG	0.537													4	71					0	0	1	0	0	A	99486194	G	A	99486194	3	1	95	1	0	0	0	0	1	0	0	0	7615	1116	39	2	3574	2	IGF1R	15	99486194	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		99486194	3045198	13	1704											
JMJD8	339123	broad.mit.edu	37	16	733880	733880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr16:733880delT	ENST00000293882.4	-	3	415	c.416delA	c.(415-417)cgfs	p.Q139fs	JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	139										breast(1)	1						CGTGAGTCCCTGCAGGATGAC	0.741													2	4	---	---	---	---						-	733880	T	-	733880	7	5	95	1	0	1	0	1	0	0	0	0	8000	1580	55	0	616	0	JMJD8	16	733880	Frame_Shift_Del	DEL	T	TCGA-S7-A7WQ-01A-12D-A35I-08		733880	89620873	14	1705											
ARHGEF15	22899	broad.mit.edu	37	17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672													10	61					0	0	1	0	0	T	8215743	C	T	8215743	3	4	95	1	0	0	0	0	1	0	0	0	895	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		8215743	72979467	15	1706											
ZNF287	57336	broad.mit.edu	37	17	16456249	16456249	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:16456249T>C	ENST00000395824.1	-	6	1824	c.1207A>G	c.(1207-1209)Aaa>Gaa	p.K403E	ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	396					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTAAACTCTTTCCCACATTCT	0.428													14	90					0	0	1	0	0	C	16456249	T	C	16456249	3	2	95	1	0	0	0	0	1	0	0	0	17882	1792	62	4	1082	4	ZNF287	17	16456249	Missense_Mutation	SNP	T	TCGA-S7-A7WQ-01A-12D-A35I-08	8240506	16456249	64738961	16	1707											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													4	142					0	0	1	0	0	C	11058353	T	C	11058353	1	2	95	0	1	0	0	0	0	0	0	0	1290	1769	61	4		4	BAGE2	21	11058353	RNA	SNP	T	TCGA-S7-A7WQ-01A-12D-A35I-08		11058353	37071542	17	1708											
PANK4	55229	broad.mit.edu	37	1	2440495	2440495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:2440495delG	ENST00000378466.3	-	19	2125	c.2113delC	c.(2113-2115)tgfs	p.L705fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	705					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCCTTATCCAGGCGGCTTTGG	0.642													2	4	---	---	---	---						-	2440495	G	-	2440495	7	5	96	1	0	1	0	1	0	0	0	0	11466	991	35	0	212	0	PANK4	1	2440495	Frame_Shift_Del	DEL	G	TCGA-S7-A7WR-01A-11D-A35I-08		2440495	246810126	1	1709											
PLEKHG5	57449	broad.mit.edu	37	1	6531115	6531115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:6531115delC	ENST00000377748.1	-	14	2055	c.1558delG	c.(1558-1560)agfs	p.E520fs	PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E499fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	499	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCAGCCCTCCTCCTCCATG	0.701													2	4	---	---	---	---						-	6531115	C	-	6531115	7	5	96	1	0	1	0	1	0	0	0	0	12121	864	30	0	1729	0	PLEKHG5	1	6531115	Frame_Shift_Del	DEL	C	TCGA-S7-A7WR-01A-11D-A35I-08	4090620	6531115	242719506	2	1710											
PDE4DIP	9659	broad.mit.edu	37	1	144856986	144856986	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:144856986C>A	ENST00000369359.4	-	43	6945	c.6907G>T	c.(6907-6909)Gct>Tct	p.A2303S	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2167					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATCAGTAGCATCACCCTCT	0.473			T	PDGFRB	MPD								6	71					6.40141e-05	7.46831e-05	1	1	0	A	144856986	C	A	144856986	3	1	96	1	0	0	0	0	1	0	0	0	11690	710	25	5	561	5	PDE4DIP	1	144856986	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08	138325871	144856986	104393635	3	1711											
RGPD2	729857	broad.mit.edu	37	2	88091594	88091595	+	Splice_Site	INS	-	-	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr2:88091594_88091595insA	ENST00000398146.3	-	17	2602		c.e17-2		RGPD2_ENST00000327544.6_Splice_Site|RGPD2_ENST00000420840.2_Splice_Site			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2						intracellular transport		binding			breast(1)|pancreas(1)	2						GGGAGAATACtaaaaaaaaaaa	0.312													2	4	---	---	---	---						A	88091595	-	A	88091594	8	5	96	1	0	1	1	0	0	0	1	0	13338	1536	53	0	8283	0	RGPD2	2	88091594	Splice_Site	INS	-	TCGA-S7-A7WR-01A-11D-A35I-08		88091594	155107779	4	1712											
DNAH8	1769	broad.mit.edu	37	6	38841074	38841074	+	Silent	SNP	C	C	T			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:38841074C>T	ENST00000359357.3	+	50	7145	c.6891C>T	c.(6889-6891)gtC>gtT	p.V2297V	DNAH8_ENST00000441566.1_Silent_p.V2261V|DNAH8_ENST00000449981.2_Silent_p.V2514V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGAGAAAGTCTTTGAAGATA	0.368													5	95					0	0	1	0	0	T	38841074	C	T	38841074	2	4	96	1	0	0	0	0	0	0	0	1	4634	900	32	3		3	DNAH8	6	38841074	Silent	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		38841074	132273993	5	1713											
KIAA1009	22832	broad.mit.edu	37	6	84871605	84871605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:84871605delT	ENST00000403245.3	-	20	2650	c.2536delA	c.(2536-2538)ttfs	p.I846fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	846					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)		TCTTCTAAAATTTTTATTTCA	0.294													2	4	---	---	---	---						-	84871605	T	-	84871605	7	5	96	1	0	1	0	1	0	0	0	0	8245	1493	52	0	1707	0	KIAA1009	6	84871605	Frame_Shift_Del	DEL	T	TCGA-S7-A7WR-01A-11D-A35I-08	46030531	84871605	86243462	6	1714											
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			26	56					2.24059e-21	2.76779e-21	1	1	0	T	533875	G	T	533875	3	4	96	1	0	0	0	0	1	0	0	0	7389	1357	47	5	467	5	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		533875	134472641	7	1715											
KRT71	112802	broad.mit.edu	37	12	52943841	52943841	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr12:52943841G>A	ENST00000267119.5	-	2	697	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	210	Coil 1B.|Rod.			R -> Q (in Ref. 5; AAI03919).			structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACTACGTCCCGCACATTCCTC	0.622													4	111					0	0	1	0	0	A	52943841	G	A	52943841	3	1	96	1	0	0	0	0	1	0	0	0	8527	1086	38	1	975	1	KRT71	12	52943841	Missense_Mutation	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		52943841	80908054	8	1716											
LPCAT2	54947	broad.mit.edu	37	16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	287					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289													4	115					0	0	1	0	0	T	55579653	C	T	55579653	3	4	96	1	0	0	0	0	1	0	0	0	8956	739	26	3	893	3	LPCAT2	16	55579653	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		55579653	34775100	9	1717											
RPAIN	84268	broad.mit.edu	37	17	5331589	5331589	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr17:5331589C>A	ENST00000405578.4	+	6	699	c.688C>A	c.(688-690)Cca>Aca	p.P230T	RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA	NM_001160243.1	NP_001153715.1	Q86UA6	RIP_HUMAN	RPA interacting protein	0					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						GGTTTTATTCCCACCTTGATA	0.408													3	16					1	1	1	1	0	A	5331589	C	A	5331589	3	1	96	1	0	0	0	0	1	0	0	0	13592	623	22	5	710	5	RPAIN	17	5331589	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		5331589	75863621	10	1718											
FFAR2	2867	broad.mit.edu	37	19	35940790	35940790	+	Silent	SNP	G	G	C			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr19:35940790G>C	ENST00000599180.1	+	2	254	c.174G>C	c.(172-174)ctG>ctC	p.L58L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L58L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	58						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647													3	34					0	0	1	0	0	C	35940790	G	C	35940790	2	2	96	1	0	0	0	0	0	0	0	1	5861	1306	46	5		5	FFAR2	19	35940790	Silent	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		35940790	23188193	11	1719											
CSDE1	7812	broad.mit.edu	37	1	115272878	115272878	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:115272878C>T	ENST00000438362.2	-	12	1873		c.e12+1		CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAAACCTACCTTCTCTTTG	0.368													10	71					0	0	1	0	0	T	115272878	C	T	115272878	5	4	97	1	0	0	0	0	0	0	1	0	3954	521	18	3	1075	3	CSDE1	1	115272878	Splice_Site	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		115272878	133977743	1	1720											
RPTN	126638	broad.mit.edu	37	1	152127903	152127903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:152127903delG	ENST00000316073.3	-	3	1736	c.1672delC	c.(1672-1674)acfs	p.H558fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	558	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.H558D(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCGTAGTGGGAACTCTGG	0.507													7	810	---	---	---	---						-	152127903	G	-	152127903	7	5	97	1	0	1	0	1	0	0	0	0	13716	1348	47	0	686	0	RPTN	1	152127903	Frame_Shift_Del	DEL	G	TCGA-S7-A7WT-01A-12D-A35I-08	36855025	152127903	97122718	2	1721											
ASH1L	55870	broad.mit.edu	37	1	155340331	155340340	+	Frame_Shift_Del	DEL	TTGATGAATC	TTGATGAATC	-			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:155340331_155340340delTTGATGAATC	ENST00000368346.3	-	12	7295_7304	c.6656_6665delGATTCATCAA	c.(6655-6666)ccfs	p.RFIN2219fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2219	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACAGCTATGGTTGATGAATCGGGCCTCATT	0.448													15	203	---	---	---	---						-	155340340	TTGATGAATC	-	155340331	7	5	97	1	0	1	0	1	0	0	0	0	1040	1725	60	0	2312	0	ASH1L	1	155340331	Frame_Shift_Del	DEL	TTGATGAATC	TCGA-S7-A7WT-01A-12D-A35I-08	3212428	155340331	93910290	3	1722											
ITLN2	142683	broad.mit.edu	37	1	160920865	160920865	+	Missense_Mutation	SNP	A	A	T	rs141731306		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:160920865A>T	ENST00000368029.3	-	4	466	c.409T>A	c.(409-411)Tct>Act	p.S137T		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	137	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCTGCAGATCCAAAGGTG	0.597													13	97					0	0	1	0	0	T	160920865	A	T	160920865	3	4	97	1	0	0	0	0	1	0	0	0	7955	333	12	5	588	5	ITLN2	1	160920865	Missense_Mutation	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	5580534	160920865	88329756	4	1723											
PSD4	23550	broad.mit.edu	37	2	113940295	113940295	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:113940295C>G	ENST00000245796.6	+	2	457	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	PSD4_ENST00000441564.2_Missense_Mutation_p.Q88E|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	88					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCCTTGCCAGGAGCAAAC	0.637													7	45					0	0	1	0	0	G	113940295	C	G	113940295	3	3	97	1	0	0	0	0	1	0	0	0	12698	595	21	5	264	5	PSD4	2	113940295	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		113940295	129259078	5	1724											
TTN	7273	broad.mit.edu	37	2	179418227	179418227	+	Splice_Site	SNP	A	A	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:179418227A>T	ENST00000589042.1	-	334	89728		c.e334+1		TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGTACATACCAAGTATAT	0.343													12	71					0	0	1	0	0	T	179418227	A	T	179418227	5	4	97	1	0	0	0	0	0	0	1	0	16797	405	14	5	18590	5	TTN	2	179418227	Splice_Site	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	65477932	179418227	63781146	6	1725											
CALCRL	10203	broad.mit.edu	37	2	188211041	188211041	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:188211041G>A	ENST00000409998.1	-	16	2037	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	419						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTGTAAGACGCACTACGAAG	0.373													10	73					0	0	1	0	0	A	188211041	G	A	188211041	3	1	97	1	0	0	0	0	1	0	0	0	2598	1087	38	1	133	1	CALCRL	2	188211041	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	8792814	188211041	54988332	7	1726											
ALS2	57679	broad.mit.edu	37	2	202606482	202606482	+	Silent	SNP	A	A	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:202606482A>G	ENST00000264276.6	-	11	2638	c.2266T>C	c.(2266-2268)Ttg>Ctg	p.L756L	ALS2_ENST00000457679.2_Silent_p.L68L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	756	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAGCTGCTCAATGAGGCTCCA	0.473													5	35					0	0	1	0	0	G	202606482	A	G	202606482	2	3	97	1	0	0	0	0	0	0	0	1	546	98	4	4		4	ALS2	2	202606482	Silent	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	14395441	202606482	40592891	8	1727											
CCR4	1233	broad.mit.edu	37	3	32995645	32995659	+	In_Frame_Del	DEL	TCTTTGCCGTGGTGG	TCTTTGCCGTGGTGG	-	rs147951720	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr3:32995645_32995659delTCTTTGCCGTGGTGG	ENST00000330953.5	+	2	899_913	c.731_745delTCTTTGCCGTGGTGG	c.(730-747)atc>a	p.IFAVVV244del		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	244					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GTGAAGATGATCTTTGCCGTGGTGGTCCTCTTCCT	0.47													17	23	---	---	---	---						-	32995659	TCTTTGCCGTGGTGG	-	32995645	7	5	97	1	0	1	0	1	0	0	0	0	2965	1435	50	0	733	0	CCR4	3	32995645	In_Frame_Del	DEL	TCTTTGCCGTGGTGG	TCGA-S7-A7WT-01A-12D-A35I-08		32995645	165026785	9	1728											
RPL34	6164	broad.mit.edu	37	4	109543293	109543293	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr4:109543293T>G	ENST00000394668.2	+	3	164	c.98T>G	c.(97-99)cTt>cGt	p.L33R	RPL34_ENST00000506397.1_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34_ENST00000394667.3_Missense_Mutation_p.L33R|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ATTGTTTACCTTTATACCAAG	0.413													5	74					0	0	1	0	0	G	109543293	T	G	109543293	3	3	97	1	0	0	0	0	1	0	0	0	13635	1609	56	5	104	5	RPL34	4	109543293	Missense_Mutation	SNP	T	TCGA-S7-A7WT-01A-12D-A35I-08		109543293	81610983	10	1729											
APC	324	broad.mit.edu	37	5	112176079	112176079	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr5:112176079G>C	ENST00000457016.1	+	16	5168	c.4788G>C	c.(4786-4788)caG>caC	p.Q1596H	APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1596H			P25054	APC_HUMAN	adenomatous polyposis coli	1596	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCCAGCCCAGACTGCTTCAA	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			28	130					0	0	1	0	0	C	112176079	G	C	112176079	3	2	97	1	0	0	0	0	1	0	0	0	759	933	33	5	4846	5	APC	5	112176079	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		112176079	68739181	11	1730											
MDC1	9656	broad.mit.edu	37	6	30680011	30680011	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:30680011C>T	ENST00000376406.3	-	5	2355	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T	MDC1_ENST00000376405.2_Missense_Mutation_p.A570T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	570					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAGGCCAGGCTTCCTCTAGA	0.507								Other conserved DNA damage response genes					7	64					0	0	1	0	0	T	30680011	C	T	30680011	3	4	97	1	0	0	0	0	1	0	0	0	9453	797	28	3	4605	3	MDC1	6	30680011	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		30680011	140435056	12	1731											
DST	667	broad.mit.edu	37	6	56504748	56504748	+	Silent	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:56504748G>A	ENST00000370754.5	-	18	2498	c.2499C>T	c.(2497-2499)ctC>ctT	p.L833L	DST_ENST00000518935.1_Silent_p.L329L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000361203.3_Silent_p.L655L|DST_ENST00000244364.6_Silent_p.L329L|DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000421834.2_Silent_p.L655L			Q03001	DYST_HUMAN	dystonin	655					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGCTTCTTTGAGACTAGATT	0.323													23	104					0	0	1	0	0	A	56504748	G	A	56504748	2	1	97	1	0	0	0	0	0	0	0	1	4809	1277	45	3		3	DST	6	56504748	Silent	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	25824737	56504748	114610319	13	1732											
THSD7A	221981	broad.mit.edu	37	7	11514012	11514012	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:11514012G>C	ENST00000423059.3	-	8	2452	c.2201C>G	c.(2200-2202)aCa>aGa	p.T734R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	734	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACTTTTCTTGTCTGCATGCC	0.512										HNSCC(18;0.044)			3	62					0	0	1	0	0	C	11514012	G	C	11514012	3	2	97	1	0	0	0	0	1	0	0	0	15939	1377	48	5	2852	5	THSD7A	7	11514012	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		11514012	147624651	14	1733											
MUC17	140453	broad.mit.edu	37	7	100682737	100682737	+	Missense_Mutation	SNP	C	C	A	rs71286275		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:100682737C>A	ENST00000306151.4	+	3	8104	c.8040C>A	c.(8038-8040)agC>agA	p.S2680R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2680	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGGTAGCAGCATGCCAA	0.488													9	338					7.48243e-07	8.14264e-07	1	1	0	A	100682737	C	A	100682737	3	1	97	1	0	0	0	0	1	0	0	0	10022	709	25	5	8050	5	MUC17	7	100682737	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08	89168725	100682737	58455926	15	1734											
SLC4A2	6522	broad.mit.edu	37	7	150768535	150768535	+	Silent	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:150768535G>A	ENST00000485713.1	+	14	3074	c.2034G>A	c.(2032-2034)acG>acA	p.T678T	SLC4A2_ENST00000310317.5_Silent_p.T596T|SLC4A2_ENST00000392826.2_Silent_p.T669T|SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	678				AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGGCGGACGGGGCGGCCCT	0.677													7	16					0	0	1	0	0	A	150768535	G	A	150768535	2	1	97	1	0	0	0	0	0	0	0	1	14709	1103	39	2		2	SLC4A2	7	150768535	Silent	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	50085798	150768535	8370128	16	1735											
PTGS1	5742	broad.mit.edu	37	9	125140786	125140786	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr9:125140786C>T	ENST00000362012.2	+	4	291	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000373698.5_5'UTR	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	96					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CACTCACGGGCGCTGGTTCTG	0.632													7	70					0	0	1	0	0	T	125140786	C	T	125140786	3	4	97	1	0	0	0	0	1	0	0	0	12805	768	27	1	300	1	PTGS1	9	125140786	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		125140786	16072645	17	1736											
BTBD10	84280	broad.mit.edu	37	11	13441043	13441043	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr11:13441043G>C	ENST00000278174.5	-	4	793	c.548C>G	c.(547-549)tCc>tGc	p.S183C	BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	183	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGTAAAAATGGATGGGTCTAC	0.338													7	108					0	0	1	0	0	C	13441043	G	C	13441043	3	2	97	1	0	0	0	0	1	0	0	0	1540	1174	41	5	903	5	BTBD10	11	13441043	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		13441043	121565473	18	1737											
A2M	2	broad.mit.edu	37	12	9242536	9242536	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:9242536C>T	ENST00000318602.7	-	21	2987	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	894					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTTCCTTCCGTGTTCAGGA	0.393													11	65					0	0	1	0	0	T	9242536	C	T	9242536	3	4	97	1	0	0	0	0	1	0	0	0	4	661	23	2	1808	2	A2M	12	9242536	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		9242536	124609359	19	1738											
CRAMP1L	57585	broad.mit.edu	37	16	1723958	1723958	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:1723958A>G	ENST00000397412.3	+	21	3821	c.3722A>G	c.(3721-3723)cAa>cGa	p.Q1241R	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1241	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCTGGCCCAAGAGCTGTCC	0.562													10	65					0	0	1	0	0	G	1723958	A	G	1723958	3	3	97	1	0	0	0	0	1	0	0	0	3869	130	5	4	3800	4	CRAMP1L	16	1723958	Missense_Mutation	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08		1723958	88630795	20	1739											
UBN1	29855	broad.mit.edu	37	16	4920308	4920308	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:4920308T>G	ENST00000396658.4	+	8	1980	c.1277T>G	c.(1276-1278)cTc>cGc	p.L426R	UBN1_ENST00000262376.6_Missense_Mutation_p.L426R|UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	426					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GATGCCCTGCTCAAGCGTGCT	0.572													6	41					0	0	1	0	0	G	4920308	T	G	4920308	3	3	97	1	0	0	0	0	1	0	0	0	16953	1551	54	5	1307	5	UBN1	16	4920308	Missense_Mutation	SNP	T	TCGA-S7-A7WT-01A-12D-A35I-08	3196350	4920308	85434445	21	1740											
KSR1	8844	broad.mit.edu	37	17	25932726	25932726	+	Silent	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr17:25932726C>T	ENST00000398988.3	+	16	1981	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	KSR1_ENST00000319524.6_Silent_p.D649D|KSR1_ENST00000509603.2_Silent_p.D627D|KSR1_ENST00000268763.6_Silent_p.D512D	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	647					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAACCAGGACCACCTGAAGC	0.667													11	20					0	0	1	0	0	T	25932726	C	T	25932726	2	4	97	1	0	0	0	0	0	0	0	1	8620	506	18	3		3	KSR1	17	25932726	Silent	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		25932726	55262484	22	1741											
ZNF324	25799	broad.mit.edu	37	19	58983066	58983066	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr19:58983066G>A	ENST00000536459.2	+	4	1916	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S			O75467	Z324A_HUMAN	zinc finger protein 324	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGCTCTGCGGTGCTGCCTT	0.662													3	54					0	0	1	0	0	A	58983066	G	A	58983066	3	1	97	1	0	0	0	0	1	0	0	0	17901	1116	39	2	1217	2	ZNF324	19	58983066	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		58983066	145917	23	1742											
TM9SF4	9777	broad.mit.edu	37	20	30732974	30732974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr20:30732974G>T	ENST00000217315.5	+	7	1022	c.682G>T	c.(682-684)Gag>Tag	p.E228*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.E245*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	245						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCACCAAGGAGAATCAGCT	0.557													11	64					0.00829132	0.00852163	1	1	0	T	30732974	G	T	30732974	4	4	97	1	0	0	0	0	0	1	0	0	16040	1175	41	5	759	5	TM9SF4	20	30732974	Nonsense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		30732974	32292546	24	1743											
BAGE2	85319	broad.mit.edu	37	21	11085901	11085903	+	RNA	DEL	CAT	CAT	-	rs28477888		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr21:11085901_11085903delCAT	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)		ccaccaccaccatcaccaccatc	0.567													2	4	---	---	---	---						-	11085903	CAT	-	11085901	6	5	97	0	1	1	0	1	0	0	0	0	1290	609	21	0		0	BAGE2	21	11085901	RNA	DEL	CAT	TCGA-S7-A7WT-01A-12D-A35I-08		11085901	37043994	25	1744											
ASB9	140462	broad.mit.edu	37	X	15267054	15267054	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chrX:15267054G>A	ENST00000546332.1	-	7	1055	c.572C>T	c.(571-573)gCg>gTg	p.A191V	ASB9_ENST00000380488.4_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V|ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	191					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACGTCCGCTCCTAAACA	0.532													12	22					0	0	1	0	0	A	15267054	G	A	15267054	3	1	97	1	0	0	0	0	1	0	0	0	1029	1087	38	1	349	1	ASB9	23	15267054	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		15267054	140003506	26	1745											
USH2A	7399	broad.mit.edu	37	1	215823955	215823955	+	Silent	SNP	G	G	A	rs147037435	byFrequency	TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr1:215823955G>A	ENST00000366943.2	-	65	14708	c.14322C>T	c.(14320-14322)agC>agT	p.S4774S	USH2A_ENST00000307340.3_Silent_p.S4774S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4774	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCATGGGCGCTGCTGGAGA	0.483										HNSCC(13;0.011)			16	23					0	0	1	0	0	A	215823955	G	A	215823955	2	1	98	1	0	0	0	0	0	0	0	1	17096	1078	38	1		1	USH2A	1	215823955	Silent	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		215823955	33426666	1	1746											
KIF3C	3797	broad.mit.edu	37	2	26203255	26203255	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr2:26203255G>A	ENST00000264712.3	-	1	2111	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	KIF3C_ENST00000405914.1_Missense_Mutation_p.A511V	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	511					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACTTGGCCGCAAGCAGCTC	0.627													3	21					0	0	1	0	0	A	26203255	G	A	26203255	3	1	98	1	0	0	0	0	1	0	0	0	8344	1087	38	1	881	1	KIF3C	2	26203255	Missense_Mutation	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		26203255	216996118	2	1747											
SPATA16	83893	broad.mit.edu	37	3	172642091	172642091	+	Silent	SNP	G	G	A			TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr3:172642091G>A	ENST00000351008.3	-	8	1428	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	415					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGGTCAGACCGAAAGGTGTTT	0.338													7	55					0	0	1	0	0	A	172642091	G	A	172642091	2	1	98	1	0	0	0	0	0	0	0	1	15057	1049	37	2		2	SPATA16	3	172642091	Silent	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		172642091	25380339	3	1748											
DHX16	8449	broad.mit.edu	37	6	30633377	30633377	+	Missense_Mutation	SNP	C	C	T	rs139415113		TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr6:30633377C>T	ENST00000376442.3	-	5	995	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	267					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GAGCTCCTGCCGCTCGTGCCG	0.627													3	43					0	0	1	0	0	T	30633377	C	T	30633377	3	4	98	1	0	0	0	0	1	0	0	0	4530	652	23	2	2389	2	DHX16	6	30633377	Missense_Mutation	SNP	C	TCGA-S7-A7WU-01A-11D-A35I-08		30633377	140481690	4	1749											
MAP3K4	4216	broad.mit.edu	37	6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597													6	129					0	0	1	0	0	T	161519378	C	T	161519378	3	4	98	1	0	0	0	0	1	0	0	0	9302	797	28	3	3659	3	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-S7-A7WU-01A-11D-A35I-08	130886001	161519378	9595689	5	1750											
UNC13C	440279	broad.mit.edu	37	15	54556464	54556464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr15:54556464delC	ENST00000545554.1	+	8	3547	c.3547delC	c.(3547-3549)cafs	p.P1183fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.P1183fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.P1181fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1183					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAAACCGGCCAGAAGTATT	0.408													2	4	---	---	---	---						-	54556464	C	-	54556464	7	5	98	1	0	1	0	1	0	0	0	0	17046	739	26	0	3573	0	UNC13C	15	54556464	Frame_Shift_Del	DEL	C	TCGA-S7-A7WU-01A-11D-A35I-08		54556464	47974928	6	1751											
COPA	1314	broad.mit.edu	37	1	160261696	160261696	+	Silent	SNP	G	G	A			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	190					0	0	1	0	0	A	160261696	G	A	160261696	2	1	99	1	0	0	0	0	0	0	0	1	3750	1195	42	3		3	COPA	1	160261696	Silent	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		160261696	88988925	1	1752											
LHX9	56956	broad.mit.edu	37	1	197887022	197887022	+	Silent	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:197887022C>T	ENST00000367390.3	+	2	69	c.42C>T	c.(40-42)caC>caT	p.H14H	LHX9_ENST00000367391.1_Silent_p.H14H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000367387.4_Silent_p.H23H|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000337020.2_Silent_p.H23H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	23					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCTCTTTCACGGGATCTCCG	0.612													4	103					0	0	1	0	0	T	197887022	C	T	197887022	2	4	99	1	0	0	0	0	0	0	0	1	8817	535	19	1		1	LHX9	1	197887022	Silent	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08	37625326	197887022	51363599	2	1753											
SEMA4F	10505	broad.mit.edu	37	2	74881511	74881511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:74881511delC	ENST00000357877.2	+	1	157	c.8delC	c.(7-9)gcfs	p.A3fs	SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	3					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAGATGCCGGCCTCTGCTGCG	0.761													2	4	---	---	---	---						-	74881511	C	-	74881511	7	5	99	1	0	1	0	1	0	0	0	0	14089	739	26	0	10	0	SEMA4F	2	74881511	Frame_Shift_Del	DEL	C	TCGA-S7-A7WV-01A-11D-A35I-08		74881511	168317862	3	1754											
TATDN2	9797	broad.mit.edu	37	3	10311971	10311971	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr3:10311971A>G	ENST00000287652.4	+	4	2156	c.1105A>G	c.(1105-1107)Atg>Gtg	p.M369V	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	369						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGACTATGTCATGTACCCTCC	0.542													7	146					0	0	1	0	0	G	10311971	A	G	10311971	3	3	99	1	0	0	0	0	1	0	0	0	15649	217	8	4	1115	4	TATDN2	3	10311971	Missense_Mutation	SNP	A	TCGA-S7-A7WV-01A-11D-A35I-08		10311971	187710459	4	1755											
FBN2	2201	broad.mit.edu	37	5	127641239	127641239	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr5:127641239C>T	ENST00000508053.1	-	50	6612	c.5638G>A	c.(5638-5640)Gcg>Acg	p.A1880T	FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T			P35556	FBN2_HUMAN	fibrillin 2	1880	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAACCCGCGGCACATTCA	0.458													4	46					0	0	1	0	0	T	127641239	C	T	127641239	3	4	99	1	0	0	0	0	1	0	0	0	5736	768	27	1	3188	1	FBN2	5	127641239	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08		127641239	53274021	5	1756											
DDX21	9188	broad.mit.edu	37	10	70733319	70733319	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr10:70733319C>T	ENST00000354185.4	+	10	1665	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	523	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCCTACATTCATCGATCCGG	0.448													3	32					0	0	1	0	0	T	70733319	C	T	70733319	3	4	99	1	0	0	0	0	1	0	0	0	4372	826	29	3	1605	3	DDX21	10	70733319	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08		70733319	64801428	6	1757											
RNFT2	84900	broad.mit.edu	37	12	117187692	117187692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr12:117187692delG	ENST00000257575.4	+	4	363	c.130delG	c.(130-132)gcfs	p.G44fs	RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	44						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGATGAAGGTGGCGTCTTTGA	0.617													2	4	---	---	---	---						-	117187692	G	-	117187692	7	5	99	1	0	1	0	1	0	0	0	0	13554	1348	47	0	140	0	RNFT2	12	117187692	Frame_Shift_Del	DEL	G	TCGA-S7-A7WV-01A-11D-A35I-08		117187692	16664203	7	1758											
ACSM3	6296	broad.mit.edu	37	16	20796355	20796355	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr16:20796355A>T	ENST00000289416.5	+	8	1544	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S	ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	357					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GGAACCAATTACCCCTGACGT	0.418													5	49					0	0	1	0	0	T	20796355	A	T	20796355	3	4	99	1	0	0	0	0	1	0	0	0	185	391	14	5	1095	5	ACSM3	16	20796355	Missense_Mutation	SNP	A	TCGA-S7-A7WV-01A-11D-A35I-08		20796355	69558398	8	1759											
MPP2	4355	broad.mit.edu	37	17	41958169	41958169	+	Missense_Mutation	SNP	G	G	A	rs143986614	by1000genomes	TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:41958169G>A	ENST00000269095.4	-	10	1344	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000461854.1_Missense_Mutation_p.P371L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L|MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	371					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCGGCGGAACGGGGGCATGCG	0.612											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	53					0	0	1	0	0	A	41958169	G	A	41958169	3	1	99	1	0	0	0	0	1	0	0	0	9783	1116	39	2	634	2	MPP2	17	41958169	Missense_Mutation	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		41958169	39237041	9	1760											
ACE	1636	broad.mit.edu	37	17	61560877	61560877	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:61560877C>T	ENST00000290866.4	+	10	1568	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.A515V|ACE_ENST00000538928.1_Silent_p.L467L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	515	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACTTTGATGCTGGAGCTAAG	0.493													4	148					0	0	1	0	0	T	61560877	C	T	61560877	3	4	99	1	0	0	0	0	1	0	0	0	136	797	28	3	1582	3	ACE	17	61560877	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08	19602708	61560877	19634333	10	1761											
C20orf96	140680	broad.mit.edu	37	20	257757	257757	+	Silent	SNP	G	G	C			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr20:257757G>C	ENST00000360321.2	-	8	891	c.753C>G	c.(751-753)cgC>cgG	p.R251R	C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCTTTCTGCGCATCTCAC	0.557													7	158					0	0	1	0	0	C	257757	G	C	257757	2	2	99	1	0	0	0	0	0	0	0	1	2136	1306	46	5		5	C20orf96	20	257757	Silent	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		257757	62767763	11	1762											
BARHL2	343472	broad.mit.edu	37	1	91180275	91180275	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:91180275G>A	ENST00000370445.4	-	2	705	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	222						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGACTCTCACGGCTACTCGTA	0.542													19	121					0	0	1	0	0	A	91180275	G	A	91180275	3	1	100	1	0	0	0	0	1	0	0	0	1312	1116	39	2	507	2	BARHL2	1	91180275	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		91180275	158070346	1	1763											
FLAD1	80308	broad.mit.edu	37	1	154961060	154961060	+	Silent	SNP	A	A	G			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:154961060A>G	ENST00000368433.1	+	2	1195	c.852A>G	c.(850-852)ctA>ctG	p.L284L	FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000292180.3_Silent_p.L284L|FLAD1_ENST00000368431.3_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	284					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAGGAGCTATATGTGGCTG	0.587													9	25					0	0	1	0	0	G	154961060	A	G	154961060	2	3	100	1	0	0	0	0	0	0	0	1	5953	436	16	4		4	FLAD1	1	154961060	Silent	SNP	A	TCGA-S7-A7WW-01A-11D-A35I-08	63780785	154961060	94289561	2	1764											
PPEF2	5470	broad.mit.edu	37	4	76787341	76787341	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr4:76787341C>T	ENST00000286719.7	-	15	2277		c.e15+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACACCGTTACCTCGCGACTC	0.473													36	61					0	0	1	0	0	T	76787341	C	T	76787341	5	4	100	1	0	0	0	0	0	0	1	0	12353	521	18	3	352	3	PPEF2	4	76787341	Splice_Site	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		76787341	114366935	3	1765											
SLC27A6	28965	broad.mit.edu	37	5	128301920	128301920	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr5:128301920C>A	ENST00000262462.4	+	1	1100	c.90C>A	c.(88-90)gaC>gaA	p.D30E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	30					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGGATGACTTCTGGTTCG	0.478													7	63					2.0095e-06	2.21045e-06	1	1	0	A	128301920	C	A	128301920	3	1	100	1	0	0	0	0	1	0	0	0	14585	564	20	5	92	5	SLC27A6	5	128301920	Missense_Mutation	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		128301920	52613340	4	1766											
RADIL	55698	broad.mit.edu	37	7	4876138	4876138	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:4876138G>A	ENST00000399583.3	-	3	821	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RADIL_ENST00000536091.1_Missense_Mutation_p.R212C|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	212					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACTGTGCGGCGCAACCGGGGT	0.736													3	18					0	0	1	0	0	A	4876138	G	A	4876138	3	1	100	1	0	0	0	0	1	0	0	0	13049	1087	38	1	2645	1	RADIL	7	4876138	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		4876138	154262525	5	1767											
TYW1	55253	broad.mit.edu	37	7	66474575	66474575	+	Silent	SNP	C	C	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398													4	49					0	0	1	0	0	T	66474575	C	T	66474575	2	4	100	1	0	0	0	0	0	0	0	1	16880	883	31	2		2	TYW1	7	66474575	Silent	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08	61598437	66474575	92664088	6	1768											
MSR1	0	broad.mit.edu	37	8	15977990	15977990	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr8:15977990C>T	ENST00000262101.5	-	9	1280	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	387	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCTACAGACGACCTGTCCA	0.542													5	103					0	0	1	0	0	T	15977990	C	T	15977990	3	4	100	1	0	0	0	0	1	0	0	0	9934	536	19	1	204	1	MSR1	8	15977990	Missense_Mutation	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		15977990	130386032	7	1769											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	4	---	---	---	---						T	118396278	-	T	118396277	6	5	100	0	1	1	1	0	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-S7-A7WW-01A-11D-A35I-08		118396277	17138470	8	1770											
ADAMTS20	80070	broad.mit.edu	37	12	43886328	43886328	+	Silent	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:43886328G>A	ENST00000389420.3	-	6	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	ADAMTS20_ENST00000553158.1_Silent_p.D352D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	352	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAACAGCAGTGTCATGGTGGG	0.383													3	9					0	0	1	0	0	A	43886328	G	A	43886328	2	1	100	1	0	0	0	0	0	0	0	1	265	1368	48	3		3	ADAMTS20	12	43886328	Silent	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		43886328	89965567	9	1771											
ADCY6	112	broad.mit.edu	37	12	49169216	49169216	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:49169216G>A	ENST00000307885.4	-	10	2544	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	617					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGTTCAGGGCATCTTGGGT	0.572													3	33					0	0	1	0	0	A	49169216	G	A	49169216	3	1	100	1	0	0	0	0	1	0	0	0	297	1203	42	3	1704	3	ADCY6	12	49169216	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08	5282888	49169216	84682679	10	1772											
KRT78	196374	broad.mit.edu	37	12	53241882	53241882	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:53241882G>T	ENST00000359499.4	-	2	89	c.78C>A	c.(76-78)aaC>aaA	p.N26K	KRT78_ENST00000304620.4_Missense_Mutation_p.N136K			Q8N1N4	K2C78_HUMAN	keratin 78	136	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGGACCTTGTTCTGCTGCT	0.602													8	18					1.12685e-05	1.18051e-05	1	1	0	T	53241882	G	T	53241882	3	4	100	1	0	0	0	0	1	0	0	0	8534	1368	48	5	1186	5	KRT78	12	53241882	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08	4072666	53241882	80610013	11	1773											
HERC1	8925	broad.mit.edu	37	15	64005579	64005579	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr15:64005579G>A	ENST00000443617.2	-	23	4523	c.4436C>T	c.(4435-4437)gCc>gTc	p.A1479V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1479					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCTTCAGAGGCACTTGTTGA	0.448													4	71					0	0	1	0	0	A	64005579	G	A	64005579	3	1	100	1	0	0	0	0	1	0	0	0	7098	1203	42	3	10373	3	HERC1	15	64005579	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		64005579	38525813	12	1774											
P2RY1	5028	broad.mit.edu	37	3	152554691	152554691	+	Nonstop_Mutation	SNP	T	T	A			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr3:152554691T>A	ENST00000305097.3	+	1	1956	c.1120T>A	c.(1120-1122)Tga>Aga	p.*374R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TACAAGCCTGTGAAGGCACAA	0.383													6	19					0	0	1	0	0	A	152554691	T	A	152554691	4	1	101	1	0	0	0	0	0	0	0	0	11393	1709	59	5	1122	5	P2RY1	3	152554691	Nonstop_Mutation	SNP	T	TCGA-S7-A7WX-01A-11D-A35I-08		152554691	45467739	1	1775											
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547													3	18					0	0	1	0	0	T	140811117	C	T	140811117	2	4	101	1	0	0	0	0	0	0	0	1	9257	796	28	3		3	MAML3	4	140811117	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		140811117	50343159	2	1776											
PRPH2	5961	broad.mit.edu	37	6	42689799	42689799	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr6:42689799C>T	ENST00000230381.5	-	1	513	c.274G>A	c.(274-276)Gcc>Acc	p.A92T		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	92					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTCCATCTGGCATACTTGGCT	0.547													16	48					0	0	1	0	0	T	42689799	C	T	42689799	3	4	101	1	0	0	0	0	1	0	0	0	12629	710	25	3	778	3	PRPH2	6	42689799	Missense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		42689799	128425268	3	1777											
NPC1L1	29881	broad.mit.edu	37	7	44560645	44560645	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr7:44560645T>C	ENST00000289547.4	-	13	3081	c.3026A>G	c.(3025-3027)cAt>cGt	p.H1009R	NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1009					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGATACTTATGGAACTGCTC	0.557													6	166					0	0	1	0	0	C	44560645	T	C	44560645	3	2	101	1	0	0	0	0	1	0	0	0	10618	1464	51	4	1085	4	NPC1L1	7	44560645	Missense_Mutation	SNP	T	TCGA-S7-A7WX-01A-11D-A35I-08		44560645	114578018	4	1778											
KCND2	3751	broad.mit.edu	37	7	119914730	119914730	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr7:119914730C>T	ENST00000331113.4	+	1	1009	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	15	Interaction with KCNIP2.				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAAGGGCAGCGGCTATCGGG	0.602													12	209					0	0	1	0	0	T	119914730	C	T	119914730	3	4	101	1	0	0	0	0	1	0	0	0	8063	768	27	1	46	1	KCND2	7	119914730	Missense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08	75354085	119914730	39223933	5	1779											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	7	---	---	---	---						T	118396278	-	T	118396277	6	5	101	0	1	1	1	0	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-S7-A7WX-01A-11D-A35I-08		118396277	17138470	6	1780											
MICAL2	9645	broad.mit.edu	37	11	12243220	12243220	+	Silent	SNP	C	C	T			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr11:12243220C>T	ENST00000256194.4	+	10	1524	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	MICAL2_ENST00000342902.5_Silent_p.A412A|MICAL2_ENST00000527546.1_Silent_p.A412A|MICAL2_ENST00000537344.1_Silent_p.A412A|MICAL2_ENST00000379612.3_Silent_p.A412A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	412						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGCTGTGCCCGTGGCTTCC	0.547													6	90					0	0	1	0	0	T	12243220	C	T	12243220	2	4	101	1	0	0	0	0	0	0	0	1	9618	610	22	3		3	MICAL2	11	12243220	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		12243220	122763296	7	1781											
IL27	246778	broad.mit.edu	37	16	28511175	28511177	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr16:28511175_28511177delTCT	ENST00000356897.1	-	5	549_551	c.527_529delAGA	c.(526-531)ggg>g	p.ER176del		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AGCCCCTtcctctcctcctcctc	0.68													4	8	---	---	---	---						-	28511177	TCT	-	28511175	7	5	101	1	0	1	0	1	0	0	0	0	7724	1550	54	0	206	0	IL27	16	28511175	In_Frame_Del	DEL	TCT	TCGA-S7-A7WX-01A-11D-A35I-08		28511175	61843578	8	1782											
PIGW	284098	broad.mit.edu	37	17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr17:34894046C>T	ENST00000592983.1	+	2	1676	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	366					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343													23	31					0	0	1	0	0	T	34894046	C	T	34894046	4	4	101	1	0	0	0	0	0	1	0	0	11950	876	31	2	1098	2	PIGW	17	34894046	Nonsense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		34894046	46301164	9	1783											
AXL	558	broad.mit.edu	37	19	41749573	41749573	+	Missense_Mutation	SNP	G	G	A	rs144824336		TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr19:41749573G>A	ENST00000301178.4	+	12	1688	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	AXL_ENST00000593513.1_Missense_Mutation_p.V232M|AXL_ENST00000359092.3_Missense_Mutation_p.V491M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	500						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGGTACCGCGTGCGCAAGTC	0.557													5	132					0	0	1	0	0	A	41749573	G	A	41749573	3	1	101	1	0	0	0	0	1	0	0	0	1236	1145	40	1	1544	1	AXL	19	41749573	Missense_Mutation	SNP	G	TCGA-S7-A7WX-01A-11D-A35I-08		41749573	17379410	10	1784											
LAMA5	3911	broad.mit.edu	37	20	60886280	60886280	+	Silent	SNP	C	C	T			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr20:60886280C>T	ENST00000252999.3	-	73	10092	c.10026G>A	c.(10024-10026)caG>caA	p.Q3342Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3342	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACCCCCAAACTGGTAGGAGT	0.687													10	23					0	0	1	0	0	T	60886280	C	T	60886280	2	4	101	1	0	0	0	0	0	0	0	1	8648	564	20	3		3	LAMA5	20	60886280	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		60886280	2139240	11	1785											
NAP1L2	4674	broad.mit.edu	37	X	72433372	72433372	+	Silent	SNP	G	G	C			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chrX:72433372G>C	ENST00000373517.3	-	1	1312	c.957C>G	c.(955-957)ccC>ccG	p.P319P	NAP1L2_ENST00000536638.1_Silent_p.P177P	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	319					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCCCCTATAGGGATGGGGAT	0.378													5	59					0	0	1	0	0	C	72433372	G	C	72433372	2	2	101	1	0	0	0	0	0	0	0	1	10205	987	35	5		5	NAP1L2	23	72433372	Silent	SNP	G	TCGA-S7-A7WX-01A-11D-A35I-08		72433372	82837188	12	1786											
HSPG2	3339	broad.mit.edu	37	1	22157966	22157966	+	Silent	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:22157966G>A	ENST00000374695.3	-	83	11521	c.11442C>T	c.(11440-11442)agC>agT	p.S3814S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3814	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTATGAAGCCGCTGCTCAGCC	0.642													4	24					0	0	1	0	0	A	22157966	G	A	22157966	2	1	102	1	0	0	0	0	0	0	0	1	7474	1078	38	1		1	HSPG2	1	22157966	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		22157966	227092655	1	1787											
OR2L2	26246	broad.mit.edu	37	1	248202447	248202447	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:248202447A>G	ENST00000366479.2	+	1	974	c.878A>G	c.(877-879)aAc>aGc	p.N293S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGCCTGAGAAACAAGGAGGTG	0.473													3	51					0	0	1	0	0	G	248202447	A	G	248202447	3	3	102	1	0	0	0	0	1	0	0	0	11055	43	2	4	880	4	OR2L2	1	248202447	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08	226044481	248202447	1048174	2	1788											
EPAS1	2034	broad.mit.edu	37	2	46607402	46607402	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr2:46607402C>G	ENST00000263734.3	+	12	2101	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587													34	72					0	0	1	0	0	G	46607402	C	G	46607402	3	3	102	1	0	0	0	0	1	0	0	0	5178	507	18	5	1637	5	EPAS1	2	46607402	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08		46607402	196591971	3	1789											
BSN	8927	broad.mit.edu	37	3	49693162	49693162	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:49693162T>G	ENST00000296452.4	+	5	6287	c.6173T>G	c.(6172-6174)aTg>aGg	p.M2058R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2058					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGCTTCCCATGCGGCGCTAT	0.602													4	29					0	0	1	0	0	G	49693162	T	G	49693162	3	3	102	1	0	0	0	0	1	0	0	0	1532	1464	51	5	6191	5	BSN	3	49693162	Missense_Mutation	SNP	T	TCGA-S7-A7X0-01A-12D-A35I-08		49693162	148329268	4	1790											
TMCC1	23023	broad.mit.edu	37	3	129389998	129389998	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:129389998C>A	ENST00000393238.3	-	4	1026	c.686G>T	c.(685-687)cGc>cTc	p.R229L	TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L|TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	229						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTTGTGCGCTGAGGGTC	0.532													4	96					0.00909568	0.00909568	1	1	0	A	129389998	C	A	129389998	3	1	102	1	0	0	0	0	1	0	0	0	16052	768	27	5	1287	5	TMCC1	3	129389998	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	79696836	129389998	68632432	5	1791											
C4orf19	55286	broad.mit.edu	37	4	37590515	37590515	+	Missense_Mutation	SNP	T	T	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr4:37590515T>A	ENST00000284437.6	+	2	204	c.26T>A	c.(25-27)aTa>aAa	p.I9K	C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K|C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	9										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TGTAAAATAATACAAAGGTAA	0.398													4	32					0	0	1	0	0	A	37590515	T	A	37590515	3	1	102	1	0	0	0	0	1	0	0	0	2268	1406	49	5	28	5	C4orf19	4	37590515	Missense_Mutation	SNP	T	TCGA-S7-A7X0-01A-12D-A35I-08		37590515	153563761	6	1792											
DNAH5	1767	broad.mit.edu	37	5	13793658	13793658	+	Silent	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:13793658C>T	ENST00000265104.4	-	49	8294	c.8190G>A	c.(8188-8190)acG>acA	p.T2730T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2730	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAGGGCAACGTGCAATTAA	0.478									Kartagener syndrome				10	92					0	0	1	0	0	T	13793658	C	T	13793658	2	4	102	1	0	0	0	0	0	0	0	1	4632	523	19	1		1	DNAH5	5	13793658	Silent	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08		13793658	167121602	7	1793											
PHF15	0	broad.mit.edu	37	5	133895558	133895558	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:133895558C>T	ENST00000395003.1	+	5	529	c.350C>T	c.(349-351)tCc>tTc	p.S117F	PHF15_ENST00000282605.4_Missense_Mutation_p.S117F|PHF15_ENST00000361895.2_Missense_Mutation_p.S117F|PHF15_ENST00000402835.1_Missense_Mutation_p.S117F	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		117					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCAGGCATCCCCGAGCAGC	0.622													9	13					0	0	1	0	0	T	133895558	C	T	133895558	3	4	102	1	0	0	0	0	1	0	0	0	11874	855	30	3	364	3	PHF15	5	133895558	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	120101900	133895558	47019702	8	1794											
AHI1	54806	broad.mit.edu	37	6	135752363	135752363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr6:135752363delG	ENST00000367800.4	-	15	2572	c.2356delC	c.(2356-2358)acfs	p.H786fs	AHI1_ENST00000327035.6_Frame_Shift_Del_p.H786fs|AHI1_ENST00000417892.2_Frame_Shift_Del_p.H140fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.H786fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	786						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATAGTCCAGTGGTGCACTGAA	0.303													2	4	---	---	---	---						-	135752363	G	-	135752363	7	5	102	1	0	1	0	1	0	0	0	0	410	1348	47	0	1343	0	AHI1	6	135752363	Frame_Shift_Del	DEL	G	TCGA-S7-A7X0-01A-12D-A35I-08		135752363	35362704	9	1795											
CARD11	84433	broad.mit.edu	37	7	2968246	2968246	+	Silent	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL								5	64					0	0	1	0	0	A	2968246	G	A	2968246	2	1	102	1	0	0	0	0	0	0	0	1	2663	1136	40	1		1	CARD11	7	2968246	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		2968246	156170417	10	1796											
MLH3	27030	broad.mit.edu	37	14	75508331	75508331	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr14:75508331G>A	ENST00000355774.2	-	4	3667	c.3452C>T	c.(3451-3453)gCc>gTc	p.A1151V	MLH3_ENST00000556740.1_Missense_Mutation_p.A1151V|MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1151					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGATAACGGGCAAATACTGG	0.388								Mismatch excision repair (MMR)					3	30					0	0	1	0	0	A	75508331	G	A	75508331	3	1	102	1	0	0	0	0	1	0	0	0	9666	1203	42	3	949	3	MLH3	14	75508331	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		75508331	31841209	11	1797											
ITGAM	3684	broad.mit.edu	37	16	31273075	31273075	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr16:31273075G>A	ENST00000544665.3	+	2	162	c.91G>A	c.(91-93)Gca>Aca	p.A31T	ITGAM_ENST00000287497.8_Missense_Mutation_p.A31T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	31					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCAAGAGAACGCAAGGGGCTT	0.517													5	14					0	0	1	0	0	A	31273075	G	A	31273075	3	1	102	1	0	0	0	0	1	0	0	0	7931	1087	38	1	97	1	ITGAM	16	31273075	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		31273075	59081678	12	1798											
GPATCH8	23131	broad.mit.edu	37	17	42476155	42476155	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr17:42476155A>C	ENST00000434000.1	-	9	3338	c.3056T>G	c.(3055-3057)aTc>aGc	p.I1019S	GPATCH8_ENST00000591680.1_Missense_Mutation_p.I1097S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1097						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTGACTGGATCTTCTCCAG	0.532													3	38					0	0	1	0	0	C	42476155	A	C	42476155	3	2	102	1	0	0	0	0	1	0	0	0	6634	333	12	5	1222	5	GPATCH8	17	42476155	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08		42476155	38719055	13	1799											
NDUFS7	374291	broad.mit.edu	37	19	1391008	1391008	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:1391008G>A	ENST00000313408.7	+	5	390	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000233627.9_Missense_Mutation_p.A123T|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	123					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CATGATCGTGGCCGGCACACT	0.687													3	23					0	0	1	0	0	A	1391008	G	A	1391008	3	1	102	1	0	0	0	0	1	0	0	0	10344	1203	42	3	385	3	NDUFS7	19	1391008	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		1391008	57737975	14	1800											
S1PR5	53637	broad.mit.edu	37	19	10624929	10624929	+	Silent	SNP	G	G	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10624929G>C	ENST00000439028.3	-	2	884	c.759C>G	c.(757-759)ctC>ctG	p.L253L	S1PR5_ENST00000333430.4_Silent_p.L253L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	253						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCACCACGCTGAGCGTGCGCA	0.736													3	2					0	0	1	0	0	C	10624929	G	C	10624929	2	2	102	1	0	0	0	0	0	0	0	1	13849	1277	45	5		5	S1PR5	19	10624929	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	9233921	10624929	48504054	15	1801											
ILF3	3609	broad.mit.edu	37	19	10799870	10799870	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10799870C>T	ENST00000449870.1	+	20	2896	c.2579C>T	c.(2578-2580)tCg>tTg	p.S860L	ILF3_ENST00000590261.1_Missense_Mutation_p.S856L|ILF3_ENST00000588657.1_Missense_Mutation_p.S860L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	856	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACTCACAGTCGAACTACAAC	0.632													12	166					0	0	1	0	0	T	10799870	C	T	10799870	3	4	102	1	0	0	0	0	1	0	0	0	7756	893	31	2	2725	2	ILF3	19	10799870	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	174941	10799870	48329113	16	1802											
AKAP8L	26993	broad.mit.edu	37	19	15508364	15508364	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:15508364G>A	ENST00000397410.4	-	11	1436	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	AKAP8L_ENST00000595465.1_Missense_Mutation_p.H397Y	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	458				H -> Q (in Ref. 2; CAB65092, 3; AAF86048, 4; BAG70140/BAG70283, 6; EAW84475 and 7; AAH00713).		cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGATTTGGTGGATGAGGCCA	0.527													3	43					0	0	1	0	0	A	15508364	G	A	15508364	3	1	102	1	0	0	0	0	1	0	0	0	455	1348	47	3	584	3	AKAP8L	19	15508364	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	4708494	15508364	43620619	17	1803											
ZNF536	9745	broad.mit.edu	37	19	30935484	30935484	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:30935484G>A	ENST00000355537.3	+	2	1162	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCGGTGGCGAGCAGTCGGC	0.647													4	99					0	0	1	0	0	A	30935484	G	A	30935484	3	1	102	1	0	0	0	0	1	0	0	0	18031	1059	37	2	1017	2	ZNF536	19	30935484	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	15427120	30935484	28193499	18	1804											
CA11	770	broad.mit.edu	37	19	49142648	49142648	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:49142648A>G	ENST00000084798.4	-	7	1388	c.709T>C	c.(709-711)Tat>Cat	p.Y237H	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	237						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GAGCCCTGATAGGTGATGAAG	0.562													3	26					0	0	1	0	0	G	49142648	A	G	49142648	3	3	102	1	0	0	0	0	1	0	0	0	2530	420	15	4	289	4	CA11	19	49142648	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08	18207164	49142648	9986335	19	1805											
SIRPG	55423	broad.mit.edu	37	20	1629815	1629815	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr20:1629815G>A	ENST00000381580.1	-	2	393	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C|SIRPG_ENST00000303415.3_Missense_Mutation_p.R105C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	105	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.R105S(1)|p.R105C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTACTGATGCGGATGGAAAAG	0.483													5	86					0	0	1	0	0	A	1629815	G	A	1629815	3	1	102	1	0	0	0	0	1	0	0	0	14391	1116	39	2	866	2	SIRPG	20	1629815	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		1629815	61395705	20	1806											
BAGE2	85319	broad.mit.edu	37	21	11038778	11038778	+	RNA	SNP	G	G	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr21:11038778G>C	ENST00000470054.1	-	0	1425									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)		GTAATAGCTGGTTTACCCATG	0.398													5	179					0	0	1	0	0	C	11038778	G	C	11038778	1	2	102	0	1	0	0	0	0	0	0	0	1290	1276	44	5		5	BAGE2	21	11038778	RNA	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		11038778	37091117	21	1807											
LRRC3	81543	broad.mit.edu	37	21	45877227	45877227	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr21:45877227C>T	ENST00000291592.4	+	2	1017	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	234						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGAGGATGCCCGGAGGCACCT	0.672													6	39					0	0	1	0	0	T	45877227	C	T	45877227	3	4	102	1	0	0	0	0	1	0	0	0	9029	643	23	2	702	2	LRRC3	21	45877227	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	34838449	45877227	2252668	22	1808											
SMARCB1	6598	broad.mit.edu	37	22	24176363	24176363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:24176363delG	ENST00000344921.6	+	9	1388	c.1181delG	c.(1180-1182)tgfs	p.W394fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.W376fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.W339fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.W385fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	385					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCCCCGGCCTGGTAACCAGCC	0.662			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							2	4	---	---	---	---						-	24176363	G	-	24176363	7	5	102	1	0	1	0	1	0	0	0	0	14828	1357	47	0	1188	0	SMARCB1	22	24176363	Frame_Shift_Del	DEL	G	TCGA-S7-A7X0-01A-12D-A35I-08		24176363	27128203	23	1809											
GTSE1	51512	broad.mit.edu	37	22	46704404	46704404	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:46704404C>T	ENST00000454366.1	+	4	538	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	90					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CACTTACTGGCTTTACACATT	0.572													4	39					0	0	1	0	0	T	46704404	C	T	46704404	3	4	102	1	0	0	0	0	1	0	0	0	6926	797	28	3	336	3	GTSE1	22	46704404	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	22528041	46704404	4600162	24	1810											
ADH6	130	broad.mit.edu	37	4	100126142	100126142	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126142G>A	ENST00000394899.2	-	8	1136	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	ADH6_ENST00000237653.7_Missense_Mutation_p.T348I|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|ADH6_ENST00000394897.1_3'UTR	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAGAGTATGAGTAATTAGTGG	0.358													29	69					0	0	1	0	0	A	100126142	G	A	100126142	3	1	103	1	0	0	0	0	1	0	0	0	311	1029	36	3	96	3	ADH6	4	100126142	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		100126142	91028134	1	1811	14	2									
ADH6	130	broad.mit.edu	37	4	100126143	100126143	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126143T>G	ENST00000394899.2	-	8	1135	c.1042A>C	c.(1042-1044)Act>Cct	p.T348P	ADH6_ENST00000237653.7_Missense_Mutation_p.T348P|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|ADH6_ENST00000394897.1_3'UTR	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AGAGTATGAGTAATTAGTGGA	0.358													33	67					0	0	1	0	0	G	100126143	T	G	100126143	3	3	103	1	0	0	0	0	1	0	0	0	311	1638	57	5	97	5	ADH6	4	100126143	Missense_Mutation	SNP	T	TCGA-S7-A7X1-01A-11D-A35I-08	1	100126143	91028133	2	1812	14	2									
ADH1B	125	broad.mit.edu	37	4	100234996	100234996	+	Silent	SNP	G	G	A			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAAGCCGACCGATGACTTCAA	0.438													5	196					0	0	1	0	0	A	100234996	G	A	100234996	2	1	103	1	0	0	0	0	0	0	0	1	307	1048	37	2		2	ADH1B	4	100234996	Silent	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08	108853	100234996	90919280	3	1813											
PCLO	27445	broad.mit.edu	37	7	82580363	82580363	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:82580363C>G	ENST00000423517.2	-	6	9878	c.9541G>C	c.(9541-9543)Gtt>Ctt	p.V3181L	PCLO_ENST00000333891.8_Missense_Mutation_p.V3181L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3112	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGTGGGAACAGAGTCTATC	0.433													7	23					0	0	1	0	0	G	82580363	C	G	82580363	3	3	103	1	0	0	0	0	1	0	0	0	11630	478	17	5	5984	5	PCLO	7	82580363	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		82580363	76558300	4	1814											
WEE2	494551	broad.mit.edu	37	7	141414151	141414151	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:141414151C>T	ENST00000397541.2	+	2	891	c.485C>T	c.(484-486)tCc>tTc	p.S162F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	162					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACTCCAGAGTCCTATAAAAAA	0.423													4	174					0	0	1	0	0	T	141414151	C	T	141414151	3	4	103	1	0	0	0	0	1	0	0	0	17405	855	30	3	491	3	WEE2	7	141414151	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08	58833788	141414151	17724512	5	1815											
CNGB3	54714	broad.mit.edu	37	8	87679266	87679266	+	Missense_Mutation	SNP	C	C	T	rs150490913		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr8:87679266C>T	ENST00000320005.5	-	6	786	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	247					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGTTGTCTGCGGTTTGATAT	0.443													3	28					0	0	1	0	0	T	87679266	C	T	87679266	3	4	103	1	0	0	0	0	1	0	0	0	3624	768	27	1	1742	1	CNGB3	8	87679266	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		87679266	58684756	6	1816											
KIAA1217	56243	broad.mit.edu	37	10	24762772	24762772	+	Missense_Mutation	SNP	G	G	A	rs147538283		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr10:24762772G>A	ENST00000376451.2	+	2	876	c.616G>A	c.(616-618)Gct>Act	p.A206T	KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T			Q5T5P2	SKT_HUMAN	KIAA1217	488					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGACATGCACGCTCACTATAA	0.557													29	57					0	0	1	0	0	A	24762772	G	A	24762772	3	1	103	1	0	0	0	0	1	0	0	0	8258	1087	38	1	1484	1	KIAA1217	10	24762772	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		24762772	110771975	7	1817											
TRIM3	10612	broad.mit.edu	37	11	6478231	6478231	+	Missense_Mutation	SNP	C	C	T	rs145197784		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:6478231C>T	ENST00000525074.1	-	6	1119	c.725G>A	c.(724-726)cGc>cAc	p.R242H	TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	242					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACCCTGGCGCAGTGTGTC	0.607													4	44					0	0	1	0	0	T	6478231	C	T	6478231	3	4	103	1	0	0	0	0	1	0	0	0	16565	768	27	1	1537	1	TRIM3	11	6478231	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		6478231	128528285	8	1818											
PKNOX2	63876	broad.mit.edu	37	11	125301206	125301206	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:125301206A>T	ENST00000298282.9	+	13	1608	c.1337A>T	c.(1336-1338)gAg>gTg	p.E446V	PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	446	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		gaggaggaggaggagctggag	0.582													3	20					0	0	1	0	0	T	125301206	A	T	125301206	3	4	103	1	0	0	0	0	1	0	0	0	12031	304	11	5	1375	5	PKNOX2	11	125301206	Missense_Mutation	SNP	A	TCGA-S7-A7X1-01A-11D-A35I-08	118822975	125301206	9705310	9	1819											
MUC16	94025	broad.mit.edu	37	19	9069495	9069495	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr19:9069495G>T	ENST00000397910.4	-	3	18154	c.17951C>A	c.(17950-17952)cCa>cAa	p.P5984Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5986	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGCACTTGGTAAGGAGCT	0.483													45	75					4.44401e-20	4.6909e-20	1	1	0	T	9069495	G	T	9069495	3	4	103	1	0	0	0	0	1	0	0	0	10021	1348	47	5	25900	5	MUC16	19	9069495	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		9069495	50059488	10	1820											
AVP	551	broad.mit.edu	37	20	3065235	3065235	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr20:3065235C>T	ENST00000380293.3	-	1	135	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	29					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGCCCTCTTGCCGCCCCTCGG	0.652													4	180					0	0	1	0	0	T	3065235	C	T	3065235	3	4	103	1	0	0	0	0	1	0	0	0	1227	739	26	3	420	3	AVP	20	3065235	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		3065235	59960285	11	1821											
KIAA2013	90231	broad.mit.edu	37	1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTTTGAGCACCTGGGG	0.597													3	32					0	0	1	0	0	G	11985396	A	G	11985396	3	3	104	1	0	0	0	0	1	0	0	0	8309	304	11	4	1017	4	KIAA2013	1	11985396	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		11985396	237265225	1	1822											
FMOD	2331	broad.mit.edu	37	1	203316735	203316735	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:203316735G>A	ENST00000354955.4	-	2	1127	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	222					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGTGACCGGAGGCCCCTCATG	0.567													20	72					0	0	1	0	0	A	203316735	G	A	203316735	3	1	104	1	0	0	0	0	1	0	0	0	5992	1000	35	3	474	3	FMOD	1	203316735	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08	191331339	203316735	45933886	2	1823											
POLN	353497	broad.mit.edu	37	4	2129863	2129863	+	Silent	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:2129863T>C	ENST00000511885.2	-	19	2312	c.1959A>G	c.(1957-1959)gtA>gtG	p.V653V	POLN_ENST00000382865.1_Silent_p.V653V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	653					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGTAGAAAATACATCATCTC	0.368								DNA polymerases (catalytic subunits)					6	26					0	0	1	0	0	C	2129863	T	C	2129863	2	2	104	1	0	0	0	0	0	0	0	1	12255	1393	49	4		4	POLN	4	2129863	Silent	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		2129863	189024413	3	1824											
TECRL	253017	broad.mit.edu	37	4	65188460	65188460	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:65188460A>G	ENST00000381210.3	-	4	492	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	TECRL_ENST00000507440.1_Missense_Mutation_p.S128P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	128					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGACAATGGAGGAAGCTGCA	0.323													4	73					0	0	1	0	0	G	65188460	A	G	65188460	3	3	104	1	0	0	0	0	1	0	0	0	15805	304	11	4	745	4	TECRL	4	65188460	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08	63058597	65188460	125965816	4	1825											
TRIM38	10475	broad.mit.edu	37	6	25966899	25966899	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr6:25966899A>C	ENST00000357085.3	+	3	625	c.149A>C	c.(148-150)aAg>aCg	p.K50T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	50					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCAAGCCAAAAGCAACTGAGG	0.507													3	44					0	0	1	0	0	C	25966899	A	C	25966899	3	2	104	1	0	0	0	0	1	0	0	0	16573	72	3	5	151	5	TRIM38	6	25966899	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		25966899	145148168	5	1826											
PTPN12	0	broad.mit.edu	37	7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S|PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383													4	63					0	0	1	0	0	A	77256458	G	A	77256458	3	1	104	1	0	0	0	0	1	0	0	0	12831	1116	39	2	1512	2	PTPN12	7	77256458	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		77256458	81882205	6	1827											
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:150713794C>A	ENST00000377974.2	-	11	2477	c.2402G>T	c.(2401-2403)cGa>cTa	p.R801L	ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662													3	13					0.004672	0.00485169	1	1	0	A	150713794	C	A	150713794	3	1	104	1	0	0	0	0	1	0	0	0	1102	893	31	5	385	5	ATG9B	7	150713794	Missense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	73457336	150713794	8424869	7	1828											
PLAT	5327	broad.mit.edu	37	8	42045067	42045067	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045067C>G	ENST00000220809.4	-	6	644	c.388G>C	c.(388-390)Gac>Cac	p.D130H	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.D84H|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	130	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCCCTGGTCCTCGTAGCAC	0.637													8	19					0	0	1	0	0	G	42045067	C	G	42045067	3	3	104	1	0	0	0	0	1	0	0	0	12069	855	30	5	1336	5	PLAT	8	42045067	Missense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08		42045067	104318955	8	1829	15	2									
PLAT	5327	broad.mit.edu	37	8	42045068	42045068	+	Silent	SNP	C	C	T			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045068C>T	ENST00000220809.4	-	6	643	c.387G>A	c.(385-387)gaG>gaA	p.E129E	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000352041.3_Silent_p.E83E|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	129	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGCCCTGGTCCTCGTAGCACG	0.637													8	19					0	0	1	0	0	T	42045068	C	T	42045068	2	4	104	1	0	0	0	0	0	0	0	1	12069	680	24	3		3	PLAT	8	42045068	Silent	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	1	42045068	104318954	9	1830	15	2									
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	rs149760238	by1000genomes	TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			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)		TCAAAGGAATGGGCCTGGGCA	0.622													4	52					0	0	1	0	0	A	33385626	G	A	33385626	3	1	104	1	0	0	0	0	1	0	0	0	828	1363	47	3		3	AQP7	9	33385626	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		33385626	107827805	10	1831											
SORCS3	22986	broad.mit.edu	37	10	106976779	106976779	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr10:106976779G>A	ENST00000369701.3	+	19	2860	c.2633G>A	c.(2632-2634)gGc>gAc	p.G878D	SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	878	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCGAGGACGGCATCAAGCAC	0.517													3	50					0	0	1	0	0	A	106976779	G	A	106976779	3	1	104	1	0	0	0	0	1	0	0	0	14986	1203	42	3	2707	3	SORCS3	10	106976779	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		106976779	28557968	11	1832											
SLC17A6	57084	broad.mit.edu	37	11	22396360	22396360	+	Silent	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr11:22396360A>G	ENST00000263160.3	+	9	1538	c.1101A>G	c.(1099-1101)ggA>ggG	p.G367G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTATTGGGGGACAAATTGCAG	0.388													45	113					0	0	1	0	0	G	22396360	A	G	22396360	2	3	104	1	0	0	0	0	0	0	0	1	14476	262	10	4		4	SLC17A6	11	22396360	Silent	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		22396360	112610156	12	1833											
LPCAT3	10162	broad.mit.edu	37	12	7086308	7086308	+	Nonstop_Mutation	SNP	T	T	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:7086308T>G	ENST00000261407.4	-	12	1549	c.1464A>C	c.(1462-1464)taA>taC	p.*488Y	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	0					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGGAAATGGATTATTCCATCT	0.368													19	45					0	0	1	0	0	G	7086308	T	G	7086308	4	3	104	1	0	0	0	0	0	0	0	0	8957	1500	52	5	3	5	LPCAT3	12	7086308	Nonstop_Mutation	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		7086308	126765587	13	1834											
LRP1	4035	broad.mit.edu	37	12	57589943	57589943	+	Silent	SNP	C	C	T	rs139174222	by1000genomes	TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:57589943C>T	ENST00000243077.3	+	55	9241	c.8775C>T	c.(8773-8775)aaC>aaT	p.N2925N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2925	LDL-receptor class A 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTCTGCAACGGCCAGGATG	0.637													16	40					0	0	1	0	0	T	57589943	C	T	57589943	2	4	104	1	0	0	0	0	0	0	0	1	8996	535	19	1		1	LRP1	12	57589943	Silent	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	50503635	57589943	76261952	14	1835											
NIN	51199	broad.mit.edu	37	14	51190309	51190309	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr14:51190309T>C	ENST00000245441.5	-	31	6464	c.6274A>G	c.(6274-6276)Act>Gct	p.T2092A	NIN_ENST00000530997.2_Missense_Mutation_p.T2092A|NIN_ENST00000389868.3_3'UTR	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1939					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGCTGTTCAGTCACTTCCAGA	0.443			T	PDGFRB	MPD								4	78					0	0	1	0	0	C	51190309	T	C	51190309	3	2	104	1	0	0	0	0	1	0	0	0	10464	1667	58	4	131	4	NIN	14	51190309	Missense_Mutation	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		51190309	56159231	15	1836											
IL4R	3566	broad.mit.edu	37	16	27374978	27374978	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr16:27374978G>T	ENST00000395762.2	+	11	2564	c.2305G>T	c.(2305-2307)Gtt>Ttt	p.V769F	IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	769					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGGTGGGGTTCCACTGGA	0.637													13	28					0.00010058	0.000118072	1	1	0	T	27374978	G	T	27374978	3	4	104	1	0	0	0	0	1	0	0	0	7742	1261	44	5	2357	5	IL4R	16	27374978	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		27374978	62979775	16	1837											
ALOX15	246	broad.mit.edu	37	17	4535050	4535050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:4535050C>A	ENST00000570836.1	-	15	1930	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	612	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GAAAAATACTCCTCCTCATGC	0.577													4	52					0.00024832	0.00027936	1	1	0	A	4535050	C	A	4535050	4	1	104	1	0	0	0	0	0	1	0	0	534	864	30	5	158	5	ALOX15	17	4535050	Nonsense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08		4535050	76660160	17	1838											
TNFAIP1	7126	broad.mit.edu	37	17	26671480	26671492	+	Frame_Shift_Del	DEL	GCCACAAGCCGTA	GCCACAAGCCGTA	-			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:26671480_26671492delGCCACAAGCCGTA	ENST00000226225.2	+	7	1072_1084	c.805_817delGCCACAAGCCGTA	c.(805-819)gcfs	p.ATSRS269fs	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	269					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTGTTGGAGGCCACAAGCCGTAGCCGCAGCCA	0.592													8	21	---	---	---	---						-	26671492	GCCACAAGCCGTA	-	26671480	7	5	104	1	0	1	0	1	0	0	0	0	16332	1203	42	0	827	0	TNFAIP1	17	26671480	Frame_Shift_Del	DEL	GCCACAAGCCGTA	TCGA-S7-A7X2-01A-12D-A35I-08	22136430	26671480	54523730	18	1839											
FAM187B	148109	broad.mit.edu	37	19	35719389	35719389	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr19:35719389G>C	ENST00000324675.3	-	1	243	c.195C>G	c.(193-195)agC>agG	p.S65R		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TATTGGTGAGGCTGGTGAGCC	0.507													14	39					0	0	1	0	0	C	35719389	G	C	35719389	3	2	104	1	0	0	0	0	1	0	0	0	5544	1194	42	5	922	5	FAM187B	19	35719389	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		35719389	23409594	19	1840											
POLA1	5422	broad.mit.edu	37	X	24761358	24761358	+	Silent	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chrX:24761358T>C	ENST00000379068.3	+	23	2521	c.2478T>C	c.(2476-2478)gaT>gaC	p.D826D	POLA1_ENST00000379059.3_Silent_p.D820D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	820					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GAGATGAAGATGAAGAAATTG	0.378													3	37					0	0	1	0	0	C	24761358	T	C	24761358	2	2	104	1	0	0	0	0	0	0	0	1	12235	1461	51	4		4	POLA1	23	24761358	Silent	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		24761358	130509202	20	1841											
TRIM62	55223	broad.mit.edu	37	1	33612992	33612992	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:33612992G>A	ENST00000291416.5	-	5	1447	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	405	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GTTAAGCCGCGTCCAGGGCTC	0.587													19	18					0	0	1	0	0	A	33612992	G	A	33612992	3	1	105	1	0	0	0	0	1	0	0	0	16598	1145	40	1	217	1	TRIM62	1	33612992	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		33612992	215637629	1	1842											
FLG	2312	broad.mit.edu	37	1	152282021	152282021	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:152282021G>A	ENST00000368799.1	-	3	5376	c.5341C>T	c.(5341-5343)Cgc>Tgc	p.R1781C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1781	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1781C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCTGTGCGTCCATGGGCG	0.602									Ichthyosis				5	196					0	0	1	0	0	A	152282021	G	A	152282021	3	1	105	1	0	0	0	0	1	0	0	0	5955	1145	40	1	6848	1	FLG	1	152282021	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	118669029	152282021	96968600	2	1843											
TMEM79	84283	broad.mit.edu	37	1	156261208	156261208	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:156261208G>A	ENST00000405535.2	+	4	1175	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.P96P	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	335						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GCCGTGGGCCGCTCCTTCCGA	0.587													4	93					0	0	1	0	0	A	156261208	G	A	156261208	3	1	105	1	0	0	0	0	1	0	0	0	16263	1087	38	1	1014	1	TMEM79	1	156261208	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	3979187	156261208	92989413	3	1844											
LRRN2	10446	broad.mit.edu	37	1	204587841	204587841	+	Missense_Mutation	SNP	C	C	T	rs138573874		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:204587841C>T	ENST00000367175.1	-	1	3492	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	427	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGGAAGCTTCGTGGGGAGAT	0.652													8	14					0	0	1	0	0	T	204587841	C	T	204587841	3	4	105	1	0	0	0	0	1	0	0	0	9080	884	31	2	865	2	LRRN2	1	204587841	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08	48326633	204587841	44662780	4	1845											
APOB	338	broad.mit.edu	37	2	21229684	21229684	+	Silent	SNP	G	G	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:21229684G>T	ENST00000233242.1	-	26	10183	c.10056C>A	c.(10054-10056)acC>acA	p.T3352T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3352					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTCAGCATTGGTATTCAGTG	0.368													38	58					6.05902e-23	6.55029e-23	1	1	0	T	21229684	G	T	21229684	2	4	105	1	0	0	0	0	0	0	0	1	782	1335	47	5		5	APOB	2	21229684	Silent	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		21229684	221969689	5	1846											
LCT	3938	broad.mit.edu	37	2	136564700	136564700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:136564700G>A	ENST00000264162.2	-	9	4181	c.4171C>T	c.(4171-4173)Cag>Tag	p.Q1391*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1391	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCTCACCTGATATGCAGCA	0.572													19	19					0	0	1	0	0	A	136564700	G	A	136564700	4	1	105	1	0	0	0	0	0	1	0	0	8732	1299	45	3	1648	3	LCT	2	136564700	Nonsense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	115335016	136564700	106634673	6	1847											
HOXD11	3237	broad.mit.edu	37	2	176973665	176973665	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:176973665G>A	ENST00000249504.5	+	2	882	c.812G>A	c.(811-813)tGt>tAt	p.C271Y	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AAAAAGCGCTGTCCCTATACC	0.577			T	NUP98	AML								5	69					0	0	1	0	0	A	176973665	G	A	176973665	3	1	105	1	0	0	0	0	1	0	0	0	7361	1377	48	3	818	3	HOXD11	2	176973665	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	40408965	176973665	66225708	7	1848											
CACNA1D	776	broad.mit.edu	37	3	53766101	53766101	+	Missense_Mutation	SNP	A	A	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr3:53766101A>G	ENST00000288139.3	+	19	2643	c.2525A>G	c.(2524-2526)gAt>gGt	p.D842G	CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D822G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	822					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCGCCTTGCGATGTGCCAGGT	0.557													3	41					0	0	1	0	0	G	53766101	A	G	53766101	3	3	105	1	0	0	0	0	1	0	0	0	2559	333	12	4	2707	4	CACNA1D	3	53766101	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08		53766101	144256329	8	1849											
UGT3A2	167127	broad.mit.edu	37	5	36049138	36049138	+	Silent	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:36049138G>A	ENST00000282507.3	-	4	797	c.696C>T	c.(694-696)ggC>ggT	p.G232G	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	232						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCCTAGAGCCTTCTGTGA	0.438													34	46					0	0	1	0	0	A	36049138	G	A	36049138	2	1	105	1	0	0	0	0	0	0	0	1	17024	958	34	3		3	UGT3A2	5	36049138	Silent	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		36049138	144866122	9	1850											
SKIV2L2	23517	broad.mit.edu	37	5	54674238	54674238	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:54674238T>G	ENST00000230640.5	+	17	2161	c.1907T>G	c.(1906-1908)tTg>tGg	p.L636W	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	636					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTTGCCAAATTGGGTAAAGAA	0.313													7	67					0	0	1	0	0	G	54674238	T	G	54674238	3	3	105	1	0	0	0	0	1	0	0	0	14415	1821	63	5	1973	5	SKIV2L2	5	54674238	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	18625100	54674238	126241022	10	1851											
COL12A1	1303	broad.mit.edu	37	6	75893695	75893695	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr6:75893695G>A	ENST00000322507.8	-	9	1472	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M|COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	388	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTGAGCGTGGTTGTCTG	0.512													5	112					0	0	1	0	0	A	75893695	G	A	75893695	3	1	105	1	0	0	0	0	1	0	0	0	3692	1145	40	1	8260	1	COL12A1	6	75893695	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		75893695	95221372	11	1852											
TMEM120A	83862	broad.mit.edu	37	7	75616893	75616893	+	RNA	DEL	C	C	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr7:75616893delC	ENST00000493111.2	-	0	811				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GAAGGTGAGGCCCCGCCACAT	0.632													2	4	---	---	---	---						-	75616893	C	-	75616893	6	5	105	0	1	1	0	1	0	0	0	0	16093	739	26	0		0	TMEM120A	7	75616893	RNA	DEL	C	TCGA-SA-A6C2-01A-11D-A35I-08		75616893	83521770	12	1853											
CA2	760	broad.mit.edu	37	8	86389491	86389491	+	Missense_Mutation	SNP	T	T	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:86389491T>A	ENST00000285379.5	+	6	880	c.650T>A	c.(649-651)gTc>gAc	p.V217D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	217					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCCATCAGCGTCAGCAGCGAG	0.517													59	80					0	0	1	0	0	A	86389491	T	A	86389491	3	1	105	1	0	0	0	0	1	0	0	0	2534	1667	58	5	672	5	CA2	8	86389491	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08		86389491	59974531	13	1854											
RAD54B	25788	broad.mit.edu	37	8	95479758	95479758	+	Missense_Mutation	SNP	A	A	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:95479758A>T	ENST00000336148.5	-	2	134	c.10T>A	c.(10-12)Tct>Act	p.S4T	RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGTGCTGCAGATCGTCTCATA	0.373								Direct reversal of damage;Homologous recombination					35	53					0	0	1	0	0	T	95479758	A	T	95479758	3	4	105	1	0	0	0	0	1	0	0	0	13044	333	12	5	2778	5	RAD54B	8	95479758	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08	9090267	95479758	50884264	14	1855											
ARHGAP39	80728	broad.mit.edu	37	8	145773409	145773409	+	Missense_Mutation	SNP	C	C	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:145773409C>T	ENST00000276826.5	-	4	1262	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	354	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGGAACGGCCGGGGCTTACG	0.697													8	7					0	0	1	0	0	T	145773409	C	T	145773409	3	4	105	1	0	0	0	0	1	0	0	0	881	652	23	2	2315	2	ARHGAP39	8	145773409	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08	50293651	145773409	590613	15	1856											
ACER2	340485	broad.mit.edu	37	9	19446412	19446412	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr9:19446412delA	ENST00000340967.2	+	5	663	c.637delA	c.(637-639)tgfs	p.M213fs		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	213					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGCACTGCATGTGGTAAGC	0.592													8	85	---	---	---	---						-	19446412	A	-	19446412	7	5	105	1	0	1	0	1	0	0	0	0	139	217	8	0	655	0	ACER2	9	19446412	Frame_Shift_Del	DEL	A	TCGA-SA-A6C2-01A-11D-A35I-08		19446412	121767019	16	1857											
OR52I1	390037	broad.mit.edu	37	11	4615553	4615553	+	Silent	SNP	C	C	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr11:4615553C>A	ENST00000450052.2	+	2	357	c.357C>A	c.(355-357)tcC>tcA	p.S119S	OR52I1_ENST00000530443.2_Silent_p.S95S			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACAGCTCCATCAGCTTTA	0.512													4	112					0.014758	0.0151364	1	1	0	A	4615553	C	A	4615553	2	1	105	1	0	0	0	0	0	0	0	1	11168	581	21	5		5	OR52I1	11	4615553	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		4615553	130390963	17	1858											
GRIP1	23426	broad.mit.edu	37	12	66923631	66923631	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr12:66923631G>A	ENST00000359742.4	-	5	722	c.482C>T	c.(481-483)aCc>aTc	p.T161I	GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I|GRIP1_ENST00000398016.3_Missense_Mutation_p.T161I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	161	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAAACCAAAGGTATTGCCTTC	0.343													7	58					0	0	1	0	0	A	66923631	G	A	66923631	3	1	105	1	0	0	0	0	1	0	0	0	6828	1261	44	3	2828	3	GRIP1	12	66923631	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		66923631	66928264	18	1859											
SYT16	83851	broad.mit.edu	37	14	62542092	62542093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:62542092_62542093insC	ENST00000430451.2	+	3	1173_1174	c.976_977insC	c.(976-978)catfs	p.H326fs	SYT16_ENST00000446982.2_Frame_Shift_Ins_p.H326fs|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	326										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGACAGCTCCTCCATGTGGAGT	0.475													57	50	---	---	---	---						C	62542093	-	C	62542092	7	5	105	1	0	1	1	0	0	0	0	0	15529	1551	54	0	986	0	SYT16	14	62542092	Frame_Shift_Ins	INS	-	TCGA-SA-A6C2-01A-11D-A35I-08		62542092	44807448	19	1860											
AKAP5	9495	broad.mit.edu	37	14	64936274	64936274	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:64936274T>G	ENST00000320636.5	+	1	2450	c.1162T>G	c.(1162-1164)Tat>Gat	p.Y388D	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.Y388D|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	388					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTCAGAACAATATGAAACACT	0.338													7	116					0	0	1	0	0	G	64936274	T	G	64936274	3	3	105	1	0	0	0	0	1	0	0	0	451	1406	49	5	1164	5	AKAP5	14	64936274	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	2394182	64936274	42413266	20	1861											
BRD7	29117	broad.mit.edu	37	16	50357568	50357571	+	Frame_Shift_Del	DEL	ACAT	ACAT	-	rs78557784	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr16:50357568_50357571delACAT	ENST00000394688.3	-	12	1529_1532	c.1370_1373delATGT	c.(1369-1374)tcfs	p.YV457fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	457					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATCTGCCATGACATACGGATAATC	0.436													7	127	---	---	---	---						-	50357571	ACAT	-	50357568	7	5	105	1	0	1	0	1	0	0	0	0	1507	275	10	0	609	0	BRD7	16	50357568	Frame_Shift_Del	DEL	ACAT	TCGA-SA-A6C2-01A-11D-A35I-08		50357568	39997185	21	1862											
FLII	2314	broad.mit.edu	37	17	18161946	18161946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:18161946delA	ENST00000327031.4	-	1	284	c.59delT	c.(58-60)tcfs	p.F20fs	FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	20	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCTCACCTTGAAGTCGTTGCC	0.761													2	4	---	---	---	---						-	18161946	A	-	18161946	7	5	105	1	0	1	0	1	0	0	0	0	5958	246	9	0	3870	0	FLII	17	18161946	Frame_Shift_Del	DEL	A	TCGA-SA-A6C2-01A-11D-A35I-08		18161946	63033264	22	1863											
USP32	84669	broad.mit.edu	37	17	58303433	58303433	+	Missense_Mutation	SNP	T	T	C			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:58303433T>C	ENST00000300896.4	-	13	1593	c.1399A>G	c.(1399-1401)Act>Gct	p.T467A	USP32_ENST00000592339.1_Missense_Mutation_p.T137A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	467	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGATGCAGTAGAAATGTTG	0.433													32	54					0	0	1	0	0	C	58303433	T	C	58303433	3	2	105	1	0	0	0	0	1	0	0	0	17123	1638	57	4	3503	4	USP32	17	58303433	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	40141487	58303433	22891777	23	1864											
FBF1	85302	broad.mit.edu	37	17	73914285	73914285	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:73914285T>G	ENST00000586717.1	-	20	2435	c.2162A>C	c.(2161-2163)gAc>gCc	p.D721A	FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	720										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GACCTCTCGGTCCTTCAGCAG	0.672													3	10					0	0	1	0	0	G	73914285	T	G	73914285	3	3	105	1	0	0	0	0	1	0	0	0	5728	1667	58	5	1282	5	FBF1	17	73914285	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	15610852	73914285	7280925	24	1865											
ST6GALNAC1	55808	broad.mit.edu	37	17	74621461	74621461	+	Missense_Mutation	SNP	A	A	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:74621461A>G	ENST00000156626.7	-	9	1953	c.1754T>C	c.(1753-1755)aTc>aCc	p.I585T		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	585					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTACAGCCGGATTATCCCTTC	0.537													15	18					0	0	1	0	0	G	74621461	A	G	74621461	3	3	105	1	0	0	0	0	1	0	0	0	15279	333	12	4	52	4	ST6GALNAC1	17	74621461	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08	707176	74621461	6573749	25	1866											
OR7G2	390882	broad.mit.edu	37	19	9213131	9213131	+	Silent	SNP	C	C	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr19:9213131C>T	ENST00000305456.2	-	1	851	c.852G>A	c.(850-852)gtG>gtA	p.V284V		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTCAGTAACCACAGAACTAA	0.468													3	45					0	0	1	0	0	T	9213131	C	T	9213131	2	4	105	1	0	0	0	0	0	0	0	1	11270	581	21	3		3	OR7G2	19	9213131	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		9213131	49915852	26	1867											
KRTAP10-3	386682	broad.mit.edu	37	21	45978220	45978220	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr21:45978220G>A	ENST00000391620.1	-	1	423	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GAgcagacgggcacacagcag	0.657													4	174					0	0	1	0	0	A	45978220	G	A	45978220	3	1	105	1	0	0	0	0	1	0	0	0	8553	1203	42	3	290	3	KRTAP10-3	21	45978220	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		45978220	2151675	27	1868											
ELFN2	114794	broad.mit.edu	37	22	37769955	37769955	+	Missense_Mutation	SNP	C	C	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr22:37769955C>G	ENST00000402918.1	-	3	2405	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E540D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	540						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTTGTCCACCTCCTTGGCAA	0.642													6	76					0	0	1	0	0	G	37769955	C	G	37769955	3	3	105	1	0	0	0	0	1	0	0	0	5086	680	24	5	846	5	ELFN2	22	37769955	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		37769955	13534611	28	1869											
SSX5	6758	broad.mit.edu	37	X	48049618	48049618	+	Silent	SNP	C	C	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chrX:48049618C>A	ENST00000311798.1	-	7	592	c.540G>T	c.(538-540)ctG>ctT	p.L180L	SSX5_ENST00000347757.1_Silent_p.L139L|SSX5_ENST00000376923.1_Silent_p.L139L	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGAGGGGCGCAGCTGTTTCC	0.463													7	146					0.0293803	0.0293803	1	1	0	A	48049618	C	A	48049618	2	1	105	1	0	0	0	0	0	0	0	1	15264	697	25	5		5	SSX5	23	48049618	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		48049618	107220942	29	1870											
MIB2	142678	broad.mit.edu	37	1	1564560	1564560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:1564560delG	ENST00000357210.4	+	17	2640	c.2424delG	c.(2422-2424)gcfs	p.A809fs	MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	809					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGTGGGCGCGGCGGTCGCCT	0.776													2	4	---	---	---	---						-	1564560	G	-	1564560	7	5	106	1	0	1	0	1	0	0	0	0	9616	1103	39	0	2661	0	MIB2	1	1564560	Frame_Shift_Del	DEL	G	TCGA-SP-A6QC-01A-11D-A35I-08		1564560	247686061	1	1871											
LCE1E	353135	broad.mit.edu	37	1	152759824	152759824	+	Missense_Mutation	SNP	A	A	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:152759824A>C	ENST00000368770.3	+	2	102	c.49A>C	c.(49-51)Act>Cct	p.T17P	LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	17	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccaagtgcactcccaagtg	0.602													75	103					0	0	1	0	0	C	152759824	A	C	152759824	3	2	106	1	0	0	0	0	1	0	0	0	8702	159	6	5	51	5	LCE1E	1	152759824	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08	151195264	152759824	96490797	2	1872											
C1orf27	54953	broad.mit.edu	37	1	186363120	186363121	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:186363120_186363121delTT	ENST00000287859.6	+	9	878_879	c.753_754delTT	c.(751-756)tcttfs	p.SF251fs	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Frame_Shift_Del_p.SF219fs|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	251			S -> C (in dbSNP:rs12084264).			integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CTAGTCATTCTTTTGATGTCAG	0.277													2	4	---	---	---	---						-	186363121	TT	-	186363120	7	5	106	1	0	1	0	1	0	0	0	0	2050	1596	56	0	783	0	C1orf27	1	186363120	Frame_Shift_Del	DEL	TT	TCGA-SP-A6QC-01A-11D-A35I-08	33603296	186363120	62887501	3	1873											
SUSD4	55061	broad.mit.edu	37	1	223438145	223438145	+	Missense_Mutation	SNP	A	A	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438145A>C	ENST00000343846.3	-	4	1184	c.551T>G	c.(550-552)cTa>cGa	p.L184R	SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGAAGAGGCTAGAGGTCTCAG	0.463													31	44					0	0	1	0	0	C	223438145	A	C	223438145	3	2	106	1	0	0	0	0	1	0	0	0	15466	420	15	5	1094	5	SUSD4	1	223438145	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08	37075025	223438145	25812476	4	1874	16	2									
SUSD4	55061	broad.mit.edu	37	1	223438146	223438146	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438146G>T	ENST00000343846.3	-	4	1183	c.550C>A	c.(550-552)Cta>Ata	p.L184I	SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GAAGAGGCTAGAGGTCTCAGG	0.468													33	44					6.00712e-18	6.42141e-18	1	1	0	T	223438146	G	T	223438146	3	4	106	1	0	0	0	0	1	0	0	0	15466	933	33	5	1095	5	SUSD4	1	223438146	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08	1	223438146	25812475	5	1875	16	2									
FBXO28	23219	broad.mit.edu	37	1	224340859	224340859	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:224340859T>C	ENST00000366862.5	+	4	575	c.532T>C	c.(532-534)Tat>Cat	p.Y178H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	178										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGATGAGATTTATCGTGTGTT	0.343													47	40					0	0	1	0	0	C	224340859	T	C	224340859	3	2	106	1	0	0	0	0	1	0	0	0	5771	1754	61	4	546	4	FBXO28	1	224340859	Missense_Mutation	SNP	T	TCGA-SP-A6QC-01A-11D-A35I-08	902713	224340859	24909762	6	1876											
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:37041349G>A	ENST00000379242.3	+	16	2229	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512													11	41					0	0	1	0	0	A	37041349	G	A	37041349	3	1	106	1	0	0	0	0	1	0	0	0	17231	1145	40	1	2110	1	VIT	2	37041349	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		37041349	206158024	7	1877											
IMMT	10989	broad.mit.edu	37	2	86397875	86397875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:86397875delC	ENST00000410111.3	-	6	1039	c.652delG	c.(652-654)agfs	p.E218fs	IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000490238.1_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	218						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACATACACTCAATTTTAACT	0.423													2	4	---	---	---	---						-	86397875	C	-	86397875	7	5	106	1	0	1	0	1	0	0	0	0	7762	835	29	0	1664	0	IMMT	2	86397875	Frame_Shift_Del	DEL	C	TCGA-SP-A6QC-01A-11D-A35I-08	49356526	86397875	156801498	8	1878											
GAD1	2571	broad.mit.edu	37	2	171710489	171710489	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:171710489G>A	ENST00000358196.3	+	14	1920	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	457					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGTGTGGCCGCCACGTGGAT	0.488													3	35					0	0	1	0	0	A	171710489	G	A	171710489	3	1	106	1	0	0	0	0	1	0	0	0	6214	1087	38	1	1461	1	GAD1	2	171710489	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08	85312614	171710489	71488884	9	1879											
SCARB2	950	broad.mit.edu	37	4	77100808	77100808	+	Silent	SNP	G	G	A			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr4:77100808G>A	ENST00000264896.2	-	4	823	c.474C>T	c.(472-474)gcC>gcT	p.A158A	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	158					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTTCAACATGGCCTCGATGA	0.488											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	218					0	0	1	0	0	A	77100808	G	A	77100808	2	1	106	1	0	0	0	0	0	0	0	1	13935	1335	47	3		3	SCARB2	4	77100808	Silent	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		77100808	114053468	10	1880											
PDZD2	23037	broad.mit.edu	37	5	32058106	32058106	+	Silent	SNP	G	G	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr5:32058106G>C	ENST00000438447.1	+	12	2485	c.2097G>C	c.(2095-2097)ggG>ggC	p.G699G	PDZD2_ENST00000282493.3_Silent_p.G699G			O15018	PDZD2_HUMAN	PDZ domain containing 2	699					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATACCAGTGGGGGAGCCTCAG	0.572													9	28					0	0	1	0	0	C	32058106	G	C	32058106	2	2	106	1	0	0	0	0	0	0	0	1	11748	1219	43	5		5	PDZD2	5	32058106	Silent	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		32058106	148857154	11	1881											
SCRIB	23513	broad.mit.edu	37	8	144874553	144874554	+	Frame_Shift_Ins	INS	-	-	C	rs6991873	by1000genomes	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr8:144874553_144874554insC	ENST00000356994.2	-	32	4356_4357	c.4350_4351insG	c.(4348-4353)ccccctfs	p.PP1450fs	SCRIB_ENST00000320476.3_Frame_Shift_Ins_p.PP1450fs|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.PP1369fs	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGGGGTGGGGGGGACG	0.752													2	4	---	---	---	---						C	144874554	-	C	144874553	7	5	106	1	0	1	1	0	0	0	0	0	13991	1261	44	0	640	0	SCRIB	8	144874553	Frame_Shift_Ins	INS	-	TCGA-SP-A6QC-01A-11D-A35I-08		144874553	1489469	12	1882											
GLE1	2733	broad.mit.edu	37	9	131285068	131285068	+	Missense_Mutation	SNP	A	A	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr9:131285068A>T	ENST00000309971.4	+	4	660	c.554A>T	c.(553-555)cAg>cTg	p.Q185L	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	185					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGAATTCCAGGACTTGCGG	0.473													3	46					0	0	1	0	0	T	131285068	A	T	131285068	3	4	106	1	0	0	0	0	1	0	0	0	6477	188	7	5	568	5	GLE1	9	131285068	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08		131285068	9928363	13	1883											
IPO8	10526	broad.mit.edu	37	12	30792609	30792609	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr12:30792609C>T	ENST00000256079.4	-	21	2667	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	IPO8_ENST00000544829.1_Missense_Mutation_p.E572K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	777					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTACGAAGCTCACTAGTTTTG	0.438													19	90					0	0	1	0	0	T	30792609	C	T	30792609	3	4	106	1	0	0	0	0	1	0	0	0	7842	835	29	3	804	3	IPO8	12	30792609	Missense_Mutation	SNP	C	TCGA-SP-A6QC-01A-11D-A35I-08		30792609	103059286	14	1884											
DNAH2	146754	broad.mit.edu	37	17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	rs147216751		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463													4	205					0	0	1	0	0	A	7683487	G	A	7683487	3	1	106	1	0	0	0	0	1	0	0	0	4630	1087	38	1	5877	1	DNAH2	17	7683487	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		7683487	73511723	15	1885											
PCYT2	5833	broad.mit.edu	37	17	79862805	79862805	+	Silent	SNP	C	C	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79862805C>T	ENST00000538936.2	-	13	1182	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000570388.1_Silent_p.A280A|PCYT2_ENST00000570391.1_Silent_p.A326A|PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000571105.1_Silent_p.A336A	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	358					phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCTGGTTTCGCGCCTCATACT	0.647													3	29					0	0	1	0	0	T	79862805	C	T	79862805	2	4	106	1	0	0	0	0	0	0	0	1	11659	755	27	1		1	PCYT2	17	79862805	Silent	SNP	C	TCGA-SP-A6QC-01A-11D-A35I-08	72179318	79862805	1332405	16	1886											
LRRC45	201255	broad.mit.edu	37	17	79981565	79981565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79981565delG	ENST00000306688.3	+	1	388	c.46delG	c.(46-48)ggfs	p.G16fs	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	16						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGGAGAGTGGGGCCGAGCC	0.711													2	4	---	---	---	---						-	79981565	G	-	79981565	7	5	106	1	0	1	0	1	0	0	0	0	9047	1348	47	0	48	0	LRRC45	17	79981565	Frame_Shift_Del	DEL	G	TCGA-SP-A6QC-01A-11D-A35I-08	118760	79981565	1213645	17	1887											
MCM8	84515	broad.mit.edu	37	20	5933129	5933129	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr20:5933129G>T	ENST00000378896.3	+	3	585	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y|MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	70					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GTCAACATTGGATCGATTCAT	0.338													4	166					0.00909568	0.00909568	1	1	0	T	5933129	G	T	5933129	3	4	106	1	0	0	0	0	1	0	0	0	9443	1174	41	5	214	5	MCM8	20	5933129	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		5933129	57092391	18	1888											
DGCR8	54487	broad.mit.edu	37	22	20073282	20073282	+	Translation_Start_Site	SNP	T	T	G			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr22:20073282T>G	ENST00000351989.3	+	0	225				DGCR8_ENST00000383024.2_De_novo_Start_OutOfFrame|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit						primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGAGTGCATTGTGATTTCC	0.463													7	14					0	0	1	0	0	G	20073282	T	G	20073282	1	3	106	1	0	0	0	0	0	0	0	0	4492	1508	52	5		5	DGCR8	22	20073282	Translation_Start_Site	SNP	T	TCGA-SP-A6QC-01A-11D-A35I-08		20073282	31231284	19	1889											
PDPN	10630	broad.mit.edu	37	1	13910449	13910449	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:13910449G>C	ENST00000294489.6	+	1	490	c.149G>C	c.(148-150)tGg>tCg	p.W50S	PDPN_ENST00000376057.4_Missense_Mutation_p.W50S			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTGGGCCTGTGGCCGCGGTGC	0.657													7	11					0	0	1	0	0	C	13910449	G	C	13910449	3	2	107	1	0	0	0	0	1	0	0	0	11735	1357	47	5	151	5	PDPN	1	13910449	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08		13910449	235340172	1	1890											
TCTEX1D4	343521	broad.mit.edu	37	1	45272252	45272252	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:45272252delC	ENST00000372200.1	-	2	597	c.89delG	c.(88-90)gcfs	p.G30fs	TCTEX1D4_ENST00000339355.2_Frame_Shift_Del_p.G30fs	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	30										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGGCAGGCAGCCTCGGGGCCG	0.731													2	4	---	---	---	---						-	45272252	C	-	45272252	7	5	107	1	0	1	0	1	0	0	0	0	15780	739	26	0	580	0	TCTEX1D4	1	45272252	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08	31361803	45272252	203978369	2	1891											
DNAH1	25981	broad.mit.edu	37	3	52406913	52406913	+	Splice_Site	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr3:52406913C>T	ENST00000420323.2	+	44	7090	c.6827_splice	c.e44-1	p.R2277_splice		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2277	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCCTCAGGCGGAAGGGTGT	0.617													21	57					0	0	1	0	0	T	52406913	C	T	52406913	5	4	107	1	0	0	0	0	0	0	1	0	4625	782	27	1	6999	1	DNAH1	3	52406913	Splice_Site	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		52406913	145615517	3	1892											
KIF20A	10112	broad.mit.edu	37	5	137518596	137518596	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:137518596G>A	ENST00000394894.3	+	7	975	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	250	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCGAAAGTCGGATAGGTACC	0.537													3	38					0	0	1	0	0	A	137518596	G	A	137518596	3	1	107	1	0	0	0	0	1	0	0	0	8328	1116	39	2	771	2	KIF20A	5	137518596	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08		137518596	43396664	4	1893											
RGS14	10636	broad.mit.edu	37	5	176798390	176798390	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:176798390G>A	ENST00000408923.3	+	13	1564	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	459					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCCTGCCGCAGCCAGGTG	0.607													4	64					0	0	1	0	0	A	176798390	G	A	176798390	3	1	107	1	0	0	0	0	1	0	0	0	13347	1087	38	1	1426	1	RGS14	5	176798390	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08	39279794	176798390	4116870	5	1894											
TPBG	7162	broad.mit.edu	37	6	83075102	83075102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:83075102delC	ENST00000369750.3	+	2	1041	c.424delC	c.(424-426)ccfs	p.P142fs	TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	142					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CGAGCATCTGCCCAGCCTGCG	0.736													31	33	---	---	---	---						-	83075102	C	-	83075102	7	5	107	1	0	1	0	1	0	0	0	0	16455	739	26	0	426	0	TPBG	6	83075102	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08		83075102	88039965	6	1895											
FIG4	9896	broad.mit.edu	37	6	110036319	110036319	+	Silent	SNP	A	A	G			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:110036319A>G	ENST00000230124.3	+	2	229	c.105A>G	c.(103-105)aaA>aaG	p.K35K	FIG4_ENST00000441478.2_5'UTR	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	35					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGAAACGAAATATCGTGTCT	0.323													24	31					0	0	1	0	0	G	110036319	A	G	110036319	2	3	107	1	0	0	0	0	0	0	0	1	5921	98	4	4		4	FIG4	6	110036319	Silent	SNP	A	TCGA-SP-A6QD-01A-12D-A35I-08	26961217	110036319	61078748	7	1896											
OR8H3	390152	broad.mit.edu	37	11	55890333	55890333	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:55890333C>T	ENST00000313472.3	+	1	485	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162Y(1)|p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438													41	100					0	0	1	0	0	T	55890333	C	T	55890333	3	4	107	1	0	0	0	0	1	0	0	0	11286	855	30	3	487	3	OR8H3	11	55890333	Missense_Mutation	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		55890333	79116183	8	1897											
KCNK7	10089	broad.mit.edu	37	11	65363186	65363186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:65363186delC	ENST00000394216.2	-	1	281	c.58delG	c.(58-60)ccfs	p.A20fs	KCNK7_ENST00000340313.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	20						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						AGCCCCAGGGCCAGCAAGTGG	0.682													2	4	---	---	---	---						-	65363186	C	-	65363186	7	5	107	1	0	1	0	1	0	0	0	0	8115	739	26	0	978	0	KCNK7	11	65363186	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08	9472853	65363186	69643330	9	1898											
TRAFD1	10906	broad.mit.edu	37	12	112578648	112578648	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr12:112578648C>T	ENST00000257604.5	+	5	880	c.263C>T	c.(262-264)gCt>gTt	p.A88V	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	88					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTGCGGCTTGCTGTCTGCCAG	0.468													4	83					0	0	1	0	0	T	112578648	C	T	112578648	3	4	107	1	0	0	0	0	1	0	0	0	16508	797	28	3	277	3	TRAFD1	12	112578648	Missense_Mutation	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		112578648	21273247	10	1899											
EPHX1	2052	broad.mit.edu	37	1	226026489	226026489	+	Missense_Mutation	SNP	C	C	G			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr1:226026489C>G	ENST00000366837.4	+	4	695	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A	EPHX1_ENST00000272167.5_Missense_Mutation_p.P167A	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	167					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCTGACTGACCCCAAGAACCA	0.572													6	92					0	0	1	0	0	G	226026489	C	G	226026489	3	3	108	1	0	0	0	0	1	0	0	0	5207	623	22	5	509	5	EPHX1	1	226026489	Missense_Mutation	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		226026489	23224132	1	1900											
CAPN9	10753	broad.mit.edu	37	1	230914848	230914848	+	Silent	SNP	C	C	G			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr1:230914848C>G	ENST00000354537.1	+	8	1087	c.1005C>G	c.(1003-1005)ggC>ggG	p.G335G	RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.G298G|CAPN9_ENST00000271971.2_Silent_p.G361G	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	361	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGTTCGCGGCTCCACGGCTG	0.582													5	24					0	0	1	0	0	G	230914848	C	G	230914848	2	3	108	1	0	0	0	0	0	0	0	1	2650	784	28	5		5	CAPN9	1	230914848	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08	4888359	230914848	18335773	2	1901											
C2orf73	129852	broad.mit.edu	37	2	54587376	54587376	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr2:54587376G>A	ENST00000398634.2	+	5	583	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	181										breast(2)	2						GATAAAACCAGGCAGTAGGCC	0.453													3	6					0	0	1	0	0	A	54587376	G	A	54587376	3	1	108	1	0	0	0	0	1	0	0	0	2206	1000	35	3	559	3	C2orf73	2	54587376	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		54587376	188611997	3	1902											
RASSF1	11186	broad.mit.edu	37	3	50369084	50369084	+	Silent	SNP	T	T	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr3:50369084T>A	ENST00000359365.4	-	4	772	c.666A>T	c.(664-666)gcA>gcT	p.A222A	RASSF1_ENST00000327761.3_Silent_p.A152A|RASSF1_ENST00000357043.2_Silent_p.A226A|RASSF1_ENST00000395126.3_Silent_p.A71A	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	226	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACTTCACGTGCCCTTGTGC	0.617													21	50					0	0	1	0	0	A	50369084	T	A	50369084	2	1	108	1	0	0	0	0	0	0	0	1	13136	1683	59	5		5	RASSF1	3	50369084	Silent	SNP	T	TCGA-SP-A6QF-01A-12D-A35I-08		50369084	147653346	4	1903											
NRM	11270	broad.mit.edu	37	6	30657192	30657192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr6:30657192delG	ENST00000259953.4	-	4	719	c.368delC	c.(367-369)ctfs	p.P123fs	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Intron|NRM_ENST00000376421.5_Frame_Shift_Del_p.P123fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	123						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						CCACAACACAGGGCCTTTGGG	0.607													2	4	---	---	---	---						-	30657192	G	-	30657192	7	5	108	1	0	1	0	1	0	0	0	0	10705	1000	35	0	428	0	NRM	6	30657192	Frame_Shift_Del	DEL	G	TCGA-SP-A6QF-01A-12D-A35I-08		30657192	140457875	5	1904											
AIM1	202	broad.mit.edu	37	6	106975253	106975253	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr6:106975253G>T	ENST00000369066.3	+	5	3749	c.3262G>T	c.(3262-3264)Ggt>Tgt	p.G1088C		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1088	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGAACTCTCTGGTCTCTGGGG	0.428													8	102					0.000274275	0.000285703	1	1	0	T	106975253	G	T	106975253	3	4	108	1	0	0	0	0	1	0	0	0	427	1348	47	5	3280	5	AIM1	6	106975253	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	76318061	106975253	64139814	6	1905											
COPS5	10987	broad.mit.edu	37	8	67971510	67971510	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr8:67971510G>C	ENST00000517736.1	-	2	683	c.122C>G	c.(121-123)aCc>aGc	p.T41S	COPS5_ENST00000357849.4_Missense_Mutation_p.T105S			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	105					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	p.T105I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTTACTCGGGTTTCAGTGCC	0.418													4	76					0	0	1	0	0	C	67971510	G	C	67971510	3	2	108	1	0	0	0	0	1	0	0	0	3759	1261	44	5	718	5	COPS5	8	67971510	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		67971510	78392512	7	1906											
COL15A1	1306	broad.mit.edu	37	9	101798452	101798452	+	Splice_Site	SNP	G	G	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr9:101798452G>A	ENST00000375001.3	+	20	2713	c.2289_splice	c.e20-1	p.G764_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	764	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATTTTTCCAGGGTCTCAAAGG	0.483													3	26					0	0	1	0	0	A	101798452	G	A	101798452	5	1	108	1	0	0	0	0	0	0	1	0	3695	1246	43	3	2368	3	COL15A1	9	101798452	Splice_Site	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		101798452	39414979	8	1907											
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			20	31					3.8784e-16	4.21566e-16	1	1	0	T	533875	G	T	533875	3	4	108	1	0	0	0	0	1	0	0	0	7389	1357	47	5	467	5	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		533875	134472641	9	1908											
FJX1	24147	broad.mit.edu	37	11	35640205	35640207	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:35640205_35640207delCGC	ENST00000317811.4	+	1	471_473	c.21_23delCGC	c.(19-24)ggc>gg	p.GA7del		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	7						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GGATGCGGGGCGCCGCCGCCACC	0.818													2	4	---	---	---	---						-	35640207	CGC	-	35640205	7	5	108	1	0	1	0	1	0	0	0	0	5934	755	27	0	23	0	FJX1	11	35640205	In_Frame_Del	DEL	CGC	TCGA-SP-A6QF-01A-12D-A35I-08	35106330	35640205	99366311	10	1909											
C2CD3	26005	broad.mit.edu	37	11	73760452	73760452	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:73760452G>C	ENST00000334126.7	-	27	5517	c.5291C>G	c.(5290-5292)cCt>cGt	p.P1764R	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1764R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1764						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTCTCCAAAGGGGAGACAGC	0.483													4	36					0	0	1	0	0	C	73760452	G	C	73760452	3	2	108	1	0	0	0	0	1	0	0	0	2168	1000	35	5	620	5	C2CD3	11	73760452	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	38120247	73760452	61246064	11	1910											
ETV6	2120	broad.mit.edu	37	12	12022421	12022421	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:12022421T>C	ENST00000396373.4	+	5	801	c.527T>C	c.(526-528)aTt>aCt	p.I176T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	176						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCTCCCACCATTGAACTGTTG	0.582			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								8	157					0	0	1	0	0	C	12022421	T	C	12022421	3	2	108	1	0	0	0	0	1	0	0	0	5311	1493	52	4	545	4	ETV6	12	12022421	Missense_Mutation	SNP	T	TCGA-SP-A6QF-01A-12D-A35I-08		12022421	121829474	12	1911											
COL2A1	1280	broad.mit.edu	37	12	48387610	48387610	+	Silent	SNP	C	C	T			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:48387610C>T	ENST00000380518.3	-	14	1070	c.906G>A	c.(904-906)gcG>gcA	p.A302A	COL2A1_ENST00000337299.6_Silent_p.A233A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	302	Triple-helical region.		Missing (in STL1).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGAGCACCCGCCTCTCCCT	0.542													6	51					0	0	1	0	0	T	48387610	C	T	48387610	2	4	108	1	0	0	0	0	0	0	0	1	3710	639	23	2		2	COL2A1	12	48387610	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08	36365189	48387610	85464285	13	1912											
ALDH1L2	160428	broad.mit.edu	37	12	105433512	105433512	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:105433512A>G	ENST00000258494.9	-	17	2164	c.2024T>C	c.(2023-2025)aTt>aCt	p.I675T	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	675	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGTTTGCCAATAGGAGTGGA	0.393													7	33					0	0	1	0	0	G	105433512	A	G	105433512	3	3	108	1	0	0	0	0	1	0	0	0	492	101	4	4	775	4	ALDH1L2	12	105433512	Missense_Mutation	SNP	A	TCGA-SP-A6QF-01A-12D-A35I-08	57045902	105433512	28418383	14	1913											
RABGGTA	5875	broad.mit.edu	37	14	24738839	24738839	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr14:24738839C>A	ENST00000399409.3	-	5	972	c.489G>T	c.(487-489)gaG>gaT	p.E163D	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E163D|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	163					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TGAAGGCTAGCTCTTCTGCAG	0.592													3	52					1	1	1	1	0	A	24738839	C	A	24738839	3	1	108	1	0	0	0	0	1	0	0	0	13019	796	28	5	1262	5	RABGGTA	14	24738839	Missense_Mutation	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		24738839	82610701	15	1914											
SPTB	6710	broad.mit.edu	37	14	65260383	65260383	+	Silent	SNP	G	G	C			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr14:65260383G>C	ENST00000389722.3	-	13	2051	c.1998C>G	c.(1996-1998)ggC>ggG	p.G666G	SPTB_ENST00000542895.1_Silent_p.G666G|SPTB_ENST00000389720.3_Silent_p.G666G|SPTB_ENST00000389721.5_Silent_p.G666G|SPTB_ENST00000556626.1_Silent_p.G666G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	666					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGGTCTTTGCCATAGTCCA	0.537													3	41					0	0	1	0	0	C	65260383	G	C	65260383	2	2	108	1	0	0	0	0	0	0	0	1	15174	1306	46	5		5	SPTB	14	65260383	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	40521544	65260383	42089157	16	1915											
KIAA1199	57214	broad.mit.edu	37	15	81224299	81224299	+	Silent	SNP	C	C	T			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr15:81224299C>T	ENST00000394685.3	+	22	3131	c.2712C>T	c.(2710-2712)agC>agT	p.S904S	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.S904S|KIAA1199_ENST00000220244.3_Silent_p.S904S			Q8WUJ3	K1199_HUMAN	KIAA1199	904										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGCACACCAGCGCCCTGGCCT	0.557													14	95					0	0	1	0	0	T	81224299	C	T	81224299	2	4	108	1	0	0	0	0	0	0	0	1	8255	767	27	1		1	KIAA1199	15	81224299	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		81224299	21307093	17	1916											
RBL2	5934	broad.mit.edu	37	16	53476671	53476671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr16:53476671delT	ENST00000262133.6	+	3	610	c.473delT	c.(472-474)gtfs	p.V158fs		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	158					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTTCACTGTTTCTGCTGTA	0.388													18	28	---	---	---	---						-	53476671	T	-	53476671	7	5	108	1	0	1	0	1	0	0	0	0	13162	1725	60	0	483	0	RBL2	16	53476671	Frame_Shift_Del	DEL	T	TCGA-SP-A6QF-01A-12D-A35I-08		53476671	36878082	18	1917											
FTO	79068	broad.mit.edu	37	16	53859931	53859931	+	Silent	SNP	G	G	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr16:53859931G>A	ENST00000471389.1	+	3	501	c.279G>A	c.(277-279)ccG>ccA	p.P93P	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	93	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCTCACTCCGGTATCTCGCA	0.493													5	41					0	0	1	0	0	A	53859931	G	A	53859931	2	1	108	1	0	0	0	0	0	0	0	1	6121	1103	39	2		2	FTO	16	53859931	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	383260	53859931	36494822	19	1918											
SIGLEC5	8778	broad.mit.edu	37	19	52130952	52130952	+	Silent	SNP	G	G	A			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr19:52130952G>A	ENST00000222107.4	-	6	1183	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	SIGLEC5_ENST00000599649.1_Silent_p.L349L|SIGLEC5_ENST00000570106.2_Silent_p.L349L|SIGLEC5_ENST00000534261.2_Silent_p.L349L|SIGLEC5_ENST00000429354.3_Silent_p.L349L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	349					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTGCAGTGCAGACCCTCAGCC	0.647													4	7					0	0	1	0	0	A	52130952	G	A	52130952	2	1	108	1	0	0	0	0	0	0	0	1	14366	933	33	3		3	SIGLEC5	19	52130952	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		52130952	6998031	20	1919											
ZEB2	9839	broad.mit.edu	37	2	145147119	145147119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr2:145147119C>A	ENST00000558170.2	-	10	4728	c.3544G>T	c.(3544-3546)Gaa>Taa	p.E1182*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1158*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1182	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTCTCTTCTTCATCTCGTATC	0.478													4	109					1.23904e-05	1.23904e-05	1	1	0	A	145147119	C	A	145147119	4	1	109	1	0	0	0	0	0	1	0	0	17682	835	29	5	104	5	ZEB2	2	145147119	Nonsense_Mutation	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		145147119	98052254	1	1920											
ARHGAP10	79658	broad.mit.edu	37	4	148653479	148653479	+	Silent	SNP	C	C	T			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr4:148653479C>T	ENST00000336498.3	+	1	266	c.27C>T	c.(25-27)agC>agT	p.S9S		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	9	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGGAGTTCAGCGACTGCTACC	0.672													4	41					0	0	1	0	0	T	148653479	C	T	148653479	2	4	109	1	0	0	0	0	0	0	0	1	859	767	27	1		1	ARHGAP10	4	148653479	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		148653479	42500797	2	1921											
PCDHGA4	0	broad.mit.edu	37	5	140737040	140737040	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr5:140737040C>T	ENST00000571252.1	+	1	2273	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGTCTCCCTCACCGCG	0.602													14	135					0	0	1	0	0	T	140737040	C	T	140737040	3	4	109	1	0	0	0	0	1	0	0	0	11603	855	30	3	2275	3	PCDHGA4	5	140737040	Missense_Mutation	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		140737040	40178220	3	1922											
GTPBP2	54676	broad.mit.edu	37	6	43589788	43589788	+	Silent	SNP	G	G	A			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr6:43589788G>A	ENST00000307126.5	-	11	1583	c.1584C>T	c.(1582-1584)caC>caT	p.H528H	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.H440H	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	528							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CGTTGCCCACGTGTACTGTCA	0.552													4	117					0	0	1	0	0	A	43589788	G	A	43589788	2	1	109	1	0	0	0	0	0	0	0	1	6921	1136	40	1		1	GTPBP2	6	43589788	Silent	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08		43589788	127525279	4	1923											
ABCF2	10061	broad.mit.edu	37	7	150915186	150915186	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr7:150915186A>G	ENST00000287844.2	-	11	1428	c.1319T>C	c.(1318-1320)cTg>cCg	p.L440P	ABCF2_ENST00000222388.2_Missense_Mutation_p.L440P	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	440	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGCAGCTTCAGAAGAGTTGA	0.517													5	76					0	0	1	0	0	G	150915186	A	G	150915186	3	3	109	1	0	0	0	0	1	0	0	0	66	188	7	4	613	4	ABCF2	7	150915186	Missense_Mutation	SNP	A	TCGA-SP-A6QG-01A-12D-A35I-08		150915186	8223477	5	1924											
VPS13B	157680	broad.mit.edu	37	8	100479757	100479757	+	Silent	SNP	C	C	T			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr8:100479757C>T	ENST00000395996.1	+	24	3672	c.3561C>T	c.(3559-3561)gtC>gtT	p.V1187V	VPS13B_ENST00000358544.2_Silent_p.V1187V|VPS13B_ENST00000357162.2_Silent_p.V1187V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1187					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTAGCTGTCACGTCTCAAA	0.438													31	127					0	0	1	0	0	T	100479757	C	T	100479757	2	4	109	1	0	0	0	0	0	0	0	1	17250	813	29	3		3	VPS13B	8	100479757	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		100479757	45884265	6	1925											
NEBL	10529	broad.mit.edu	37	10	21158716	21158716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr10:21158716G>A	ENST00000377122.4	-	6	931	c.535C>T	c.(535-537)Cga>Tga	p.R179*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Nonsense_Mutation_p.R179*	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	179					regulation of actin filament length		actin binding|structural constituent of muscle	p.R179*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGTCTGGTCGGTCAAGTTCT	0.368													4	125					0	0	1	0	0	A	21158716	G	A	21158716	4	1	109	1	0	0	0	0	0	1	0	0	10350	1124	39	2	2601	2	NEBL	10	21158716	Nonsense_Mutation	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08		21158716	114376031	7	1926											
STAC3	246329	broad.mit.edu	37	12	57643383	57643383	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr12:57643383A>G	ENST00000332782.2	-	2	238	c.37T>C	c.(37-39)Tcc>Ccc	p.S13P	STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	13					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCTGGGAAGGAGGGCTTAGGG	0.537													4	50					0	0	1	0	0	G	57643383	A	G	57643383	3	3	109	1	0	0	0	0	1	0	0	0	15297	304	11	4	1101	4	STAC3	12	57643383	Missense_Mutation	SNP	A	TCGA-SP-A6QG-01A-12D-A35I-08		57643383	76208512	8	1927											
ADCY9	115	broad.mit.edu	37	16	4015941	4015941	+	Silent	SNP	C	C	T	rs146633008		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr16:4015941C>T	ENST00000294016.3	-	11	4435	c.3897G>A	c.(3895-3897)acG>acA	p.T1299T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1299				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTGGCCTGCGTGCTGCTGT	0.567													3	68					0	0	1	0	0	T	4015941	C	T	4015941	2	4	109	1	0	0	0	0	0	0	0	1	300	755	27	1		1	ADCY9	16	4015941	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		4015941	86338812	9	1928											
CDC27	996	broad.mit.edu	37	17	45234323	45234323	+	Silent	SNP	T	T	C			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr17:45234323T>C	ENST00000066544.3	-	7	891	c.798A>G	c.(796-798)cgA>cgG	p.R266R	CDC27_ENST00000531206.1_Silent_p.R266R|CDC27_ENST00000446365.2_Silent_p.R205R|CDC27_ENST00000527547.1_Silent_p.R266R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAATAAACTTCGACCAGTTT	0.358													8	73					0	0	1	0	0	C	45234323	T	C	45234323	2	2	109	1	0	0	0	0	0	0	0	1	3088	1770	62	4		4	CDC27	17	45234323	Silent	SNP	T	TCGA-SP-A6QG-01A-12D-A35I-08		45234323	35960887	10	1929											
HOXB3	3213	broad.mit.edu	37	17	46629486	46629486	+	Silent	SNP	G	G	A			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr17:46629486G>A	ENST00000470495.1	-	1	1798	c.351C>T	c.(349-351)tgC>tgT	p.C117C	HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Silent_p.C44C			P14651	HXB3_HUMAN	homeobox B3	117					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGCCGGGACCGCACTTTGGGG	0.617													6	298					0	0	1	0	0	A	46629486	G	A	46629486	2	1	109	1	0	0	0	0	0	0	0	1	7343	1079	38	1		1	HOXB3	17	46629486	Silent	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08	1395163	46629486	34565724	11	1930											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8	---	---	---	---						-	38079978	GCA	-	38079976	7	5	109	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-SP-A6QG-01A-12D-A35I-08		38079976	117190584	12	1931											
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													3	5	---	---	---	---						GGCGGC	54209303	-	GGCGGC	54209302	7	5	109	1	0	1	1	0	0	0	0	0	5449	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-SP-A6QG-01A-12D-A35I-08	16129326	54209302	101061258	13	1932											
TRMT2B	79979	broad.mit.edu	37	X	100297190	100297190	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:100297190G>A	ENST00000338687.7	-	3	894	c.89C>T	c.(88-90)cCc>cTc	p.P30L	TRMT2B_ENST00000545398.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372936.3_Missense_Mutation_p.P30L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P30L			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	30							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GGCATACCAGGGAAGCAGTCC	0.502													18	44					0	0	1	0	0	A	100297190	G	A	100297190	3	1	109	1	0	0	0	0	1	0	0	0	16627	1232	43	3	1473	3	TRMT2B	23	100297190	Missense_Mutation	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08	46087888	100297190	54973370	14	1933											
C1orf106	55765	broad.mit.edu	37	1	200878465	200878465	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr1:200878465G>A	ENST00000367342.4	+	8	1354	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	385										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCAGGGCCGCACCAGTGCC	0.642													3	22					0	0	1	0	0	A	200878465	G	A	200878465	3	1	110	1	0	0	0	0	1	0	0	0	1993	1087	38	1	1184	1	C1orf106	1	200878465	Missense_Mutation	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		200878465	48372156	1	1934											
ID2	3398	broad.mit.edu	37	2	8822538	8822538	+	Silent	SNP	G	G	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr2:8822538G>A	ENST00000234091.4	+	3	1103	c.243G>A	c.(241-243)tcG>tcA	p.S81S	ID2_ENST00000331129.3_Silent_p.S81S|ID2_ENST00000396290.1_Silent_p.S81S			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	p.S81S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTGGACTCGCATCCCACTA	0.582													3	54					0	0	1	0	0	A	8822538	G	A	8822538	2	1	110	1	0	0	0	0	0	0	0	1	7534	1074	38	1		1	ID2	2	8822538	Silent	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		8822538	234376835	2	1935											
ZBBX	79740	broad.mit.edu	37	3	167031891	167031891	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr3:167031891C>A	ENST00000392766.2	-	16	1628	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	430						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCTGACAATCATGAAAAGCA	0.299													12	58					0.00136819	0.00145941	1	1	0	A	167031891	C	A	167031891	3	1	110	1	0	0	0	0	1	0	0	0	17576	826	29	5	1138	5	ZBBX	3	167031891	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		167031891	30990539	3	1936											
PCDHGA7	0	broad.mit.edu	37	5	140763352	140763352	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr5:140763352T>C	ENST00000518325.1	+	1	886	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCTGAACTCGCTTACAGG	0.418													7	23					0	0	1	0	0	C	140763352	T	C	140763352	3	2	110	1	0	0	0	0	1	0	0	0	11606	1551	54	4	888	4	PCDHGA7	5	140763352	Missense_Mutation	SNP	T	TCGA-SP-A6QH-01A-21D-A35I-08		140763352	40151908	4	1937											
CCHCR1	54535	broad.mit.edu	37	6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-	rs140560656		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr6:31110764_31110766delCTG	ENST00000396268.3	-	17	2653_2655	c.2465_2467delCAG	c.(2464-2469)gtg>g	p.AV822del	CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del|CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532													7	382	---	---	---	---						-	31110766	CTG	-	31110764	7	5	110	1	0	1	0	1	0	0	0	0	2897	565	20	0	156	0	CCHCR1	6	31110764	In_Frame_Del	DEL	CTG	TCGA-SP-A6QH-01A-21D-A35I-08		31110764	140004303	5	1938											
SYPL1	0	broad.mit.edu	37	7	105738244	105738244	+	Silent	SNP	T	T	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr7:105738244T>C	ENST00000455385.2	-	3	416	c.294A>G	c.(292-294)caA>caG	p.Q98Q	SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000011473.2_Silent_p.Q116Q	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	116	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TAACATAGAATTGTGCAGAAG	0.423													9	48					0	0	1	0	0	C	105738244	T	C	105738244	2	2	110	1	0	0	0	0	0	0	0	1	15519	1490	52	4		4	SYPL1	7	105738244	Silent	SNP	T	TCGA-SP-A6QH-01A-21D-A35I-08		105738244	53400419	6	1939											
SPIC	121599	broad.mit.edu	37	12	101880259	101880259	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr12:101880259C>A	ENST00000551346.1	+	6	616	c.457C>A	c.(457-459)Ctt>Att	p.L153I	SPIC_ENST00000299272.5_Missense_Mutation_p.L153I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTGCCGAGCTTTGGGGGAA	0.418													4	43					1	1	1	1	0	A	101880259	C	A	101880259	3	1	110	1	0	0	0	0	1	0	0	0	15107	797	28	5	469	5	SPIC	12	101880259	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		101880259	31971636	7	1940											
ITGBL1	9358	broad.mit.edu	37	13	102359178	102359178	+	Missense_Mutation	SNP	G	G	A	rs149770736		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr13:102359178G>A	ENST00000376180.3	+	9	1424	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	402	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACATCCGCGGAAGTGTAAC	0.517													4	148					0	0	1	0	0	A	102359178	G	A	102359178	3	1	110	1	0	0	0	0	1	0	0	0	7946	1116	39	2	1239	2	ITGBL1	13	102359178	Missense_Mutation	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		102359178	12810700	8	1941											
DOC2A	8448	broad.mit.edu	37	16	30020586	30020586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr16:30020586delG	ENST00000350119.4	-	4	544	c.354delC	c.(352-354)ccfs	p.P118fs	DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	118	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGAAATCCATGGGCTTGAGGC	0.647													2	4	---	---	---	---						-	30020586	G	-	30020586	7	5	110	1	0	1	0	1	0	0	0	0	4710	1335	47	0	880	0	DOC2A	16	30020586	Frame_Shift_Del	DEL	G	TCGA-SP-A6QH-01A-21D-A35I-08		30020586	60334167	9	1942											
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral to membrane		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612													9	69					0	0	1	0	0	T	32956104	C	T	32956104	3	4	110	1	0	0	0	0	1	0	0	0	16108	759	27	1	967	1	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		32956104	48239106	10	1943											
GPRASP1	9737	broad.mit.edu	37	X	101911811	101911811	+	Silent	SNP	G	G	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chrX:101911811G>C	ENST00000537097.1	+	6	3783	c.2970G>C	c.(2968-2970)ggG>ggC	p.G990G	GPRASP1_ENST00000361600.5_Silent_p.G990G|GPRASP1_ENST00000415986.1_Silent_p.G990G|GPRASP1_ENST00000444152.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	990	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAACTGTGGGTCCAGGACAT	0.512													4	64					0	0	1	0	0	C	101911811	G	C	101911811	2	2	110	1	0	0	0	0	0	0	0	1	6763	1248	44	5		5	GPRASP1	23	101911811	Silent	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		101911811	53358749	11	1944											
HAPLN2	60484	broad.mit.edu	37	1	156593628	156593628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr1:156593628delC	ENST00000255039.1	+	4	522	c.115delC	c.(115-117)ccfs	p.P40fs		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	40	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACCTCCTGCCCCCCATCCA	0.677													3	6	---	---	---	---						-	156593628	C	-	156593628	7	5	111	1	0	1	0	1	0	0	0	0	6996	739	26	0	121	0	HAPLN2	1	156593628	Frame_Shift_Del	DEL	C	TCGA-SP-A6QI-01A-12D-A35I-08		156593628	92656993	1	1945											
PREB	10113	broad.mit.edu	37	2	27355237	27355237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr2:27355237G>A	ENST00000260643.2	-	6	1040	c.787C>T	c.(787-789)Cga>Tga	p.R263*	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	263					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAGTCGCAGGCCAGCA	0.627													6	30					0	0	1	0	0	A	27355237	G	A	27355237	4	1	111	1	0	0	0	0	0	1	0	0	12522	1095	38	1	482	1	PREB	2	27355237	Nonsense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		27355237	215844136	2	1946											
C6orf211	79624	broad.mit.edu	37	6	151790032	151790032	+	Silent	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr6:151790032G>A	ENST00000367294.3	+	5	1372	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	C6orf211_ENST00000545879.1_Silent_p.R252R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	371							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGAATTACAGGAAGTTGACAG	0.413													18	60					0	0	1	0	0	A	151790032	G	A	151790032	2	1	111	1	0	0	0	0	0	0	0	1	2368	1165	41	3		3	C6orf211	6	151790032	Silent	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		151790032	19325035	3	1947											
OGDHL	55753	broad.mit.edu	37	10	50946031	50946031	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr10:50946031C>T	ENST00000374103.4	-	19	2564	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652													5	177					0	0	1	0	0	T	50946031	C	T	50946031	3	4	111	1	0	0	0	0	1	0	0	0	10888	536	19	1	573	1	OGDHL	10	50946031	Missense_Mutation	SNP	C	TCGA-SP-A6QI-01A-12D-A35I-08		50946031	84588716	4	1948											
MED13L	23389	broad.mit.edu	37	12	116413346	116413346	+	Silent	SNP	G	G	A	rs139063441		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:116413346G>A	ENST00000281928.3	-	24	5768	c.5562C>T	c.(5560-5562)tgC>tgT	p.C1854C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1854					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATTTACAACGCAGGTCTCTA	0.418													3	44					0	0	1	0	0	A	116413346	G	A	116413346	2	1	111	1	0	0	0	0	0	0	0	1	9481	1079	38	1		1	MED13L	12	116413346	Silent	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		116413346	17438549	5	1949											
CLIP1	6249	broad.mit.edu	37	12	122825338	122825338	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:122825338T>C	ENST00000358808.2	-	10	2534	c.2380A>G	c.(2380-2382)Aaa>Gaa	p.K794E	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000540338.1_Missense_Mutation_p.K805E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	805					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTAAATGTTTAATCTGTTTC	0.368													4	79					0	0	1	0	0	C	122825338	T	C	122825338	3	2	111	1	0	0	0	0	1	0	0	0	3555	1763	61	4	1967	4	CLIP1	12	122825338	Missense_Mutation	SNP	T	TCGA-SP-A6QI-01A-12D-A35I-08	6411992	122825338	11026557	6	1950											
IGDCC4	57722	broad.mit.edu	37	15	65678300	65678300	+	Missense_Mutation	SNP	C	C	G			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr15:65678300C>G	ENST00000352385.2	-	18	3258	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1017						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACTCCAATTCATGGGCAGCT	0.677											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	30					0	0	1	0	0	G	65678300	C	G	65678300	3	3	111	1	0	0	0	0	1	0	0	0	7613	835	29	5	715	5	IGDCC4	15	65678300	Missense_Mutation	SNP	C	TCGA-SP-A6QI-01A-12D-A35I-08		65678300	36853092	7	1951											
SLC7A5	8140	broad.mit.edu	37	16	87866625	87866625	+	Missense_Mutation	SNP	G	G	A	rs144253961		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr16:87866625G>A	ENST00000261622.4	-	10	1540	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	492					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAGGACGGTCGTGGAGACTGT	0.647													4	119					0	0	1	0	0	A	87866625	G	A	87866625	3	1	111	1	0	0	0	0	1	0	0	0	14755	1145	40	1	52	1	SLC7A5	16	87866625	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		87866625	2488128	8	1952											
TBXA2R	0	broad.mit.edu	37	19	3600626	3600626	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:3600626G>A	ENST00000375190.4	-	2	400	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S|TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	3					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CTGCCGTTGGGCCACATGGCT	0.657													3	17					0	0	1	0	0	A	3600626	G	A	3600626	3	1	111	1	0	0	0	0	1	0	0	0	15723	1203	42	3	1277	3	TBXA2R	19	3600626	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		3600626	55528357	9	1953											
FSD1	79187	broad.mit.edu	37	19	4311908	4311908	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:4311908G>A	ENST00000221856.6	+	7	707	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	187	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		p.R187L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGTGGCGCATGCCGGAT	0.642													4	62					0	0	1	0	0	A	4311908	G	A	4311908	3	1	111	1	0	0	0	0	1	0	0	0	6105	1087	38	1	586	1	FSD1	19	4311908	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08	711282	4311908	54817075	10	1954											
NECAB3	63941	broad.mit.edu	37	20	32247350	32247350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247350delG	ENST00000246190.6	-	8	887	c.832delC	c.(832-834)ggfs	p.R278fs	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GGTTCCAGCCGGGGGGCCTGT	0.697													2	4	---	---	---	---						-	32247350	G	-	32247350	7	5	111	1	0	1	0	1	0	0	0	0	10353	1115	39	0	378	0	NECAB3	20	32247350	Frame_Shift_Del	DEL	G	TCGA-SP-A6QI-01A-12D-A35I-08		32247350	30778170	11	1955			1	2		2	2	38	N	G_C	1.434248e-05
NECAB3	63941	broad.mit.edu	37	20	32247387	32247387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247387delC	ENST00000246190.6	-	8	850	c.795delG	c.(793-795)tgfs	p.W265fs	NECAB3_ENST00000606525.1_Intron|NECAB3_ENST00000375238.4_Intron	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	265					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GGCCGGGCCTCCAGCATGGGC	0.687													2	4	---	---	---	---						-	32247387	C	-	32247387	7	5	111	1	0	1	0	1	0	0	0	0	10353	856	30	0	415	0	NECAB3	20	32247387	Frame_Shift_Del	DEL	C	TCGA-SP-A6QI-01A-12D-A35I-08	37	32247387	30778133	12	1956			1	2		2	2	38	N	G_C	1.434248e-05
ARNT	0	broad.mit.edu	37	1	150814926	150814930	+	Frame_Shift_Del	DEL	GCTCT	GCTCT	-			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:150814926_150814930delGCTCT	ENST00000358595.5	-	5	442_446	c.242_246delAGAGC	c.(241-246)cfs	p.QS81fs	ARNT_ENST00000505755.1_Intron|ARNT_ENST00000354396.2_Frame_Shift_Del_p.QS81fs|ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	81					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCCGCAGAGCTCTGCTCATCATC	0.39			T	ETV6	AML								37	84	---	---	---	---						-	150814930	GCTCT	-	150814926	7	5	112	1	0	1	0	1	0	0	0	0	964	962	34	0	2195	0	ARNT	1	150814926	Frame_Shift_Del	DEL	GCTCT	TCGA-SP-A6QJ-01A-11D-A35I-08		150814926	98435695	1	1957											
TOR3A	64222	broad.mit.edu	37	1	179064186	179064186	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:179064186G>A	ENST00000367627.3	+	6	1779	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	343					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GTACCGTCACGTGAGGCTGTG	0.507													4	101					0	0	1	0	0	A	179064186	G	A	179064186	3	1	112	1	0	0	0	0	1	0	0	0	16437	1145	40	1	1049	1	TOR3A	1	179064186	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08	28249260	179064186	70186435	2	1958											
TTN	7273	broad.mit.edu	37	2	179650740	179650740	+	Silent	SNP	G	G	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr2:179650740G>A	ENST00000589042.1	-	14	2429	c.2205C>T	c.(2203-2205)taC>taT	p.Y735Y	TTN_ENST00000359218.5_Silent_p.Y689Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000591111.1_Silent_p.Y735Y|TTN_ENST00000360870.5_Silent_p.Y735Y|TTN_ENST00000460472.2_Silent_p.Y689Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	735							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATATCCGTACTCCAAAG	0.537													3	54					0	0	1	0	0	A	179650740	G	A	179650740	2	1	112	1	0	0	0	0	0	0	0	1	16797	1140	40	1		1	TTN	2	179650740	Silent	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		179650740	63548633	3	1959											
FLNB	2317	broad.mit.edu	37	3	58104625	58104625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr3:58104625delC	ENST00000357272.4	+	19	2937	c.2772delC	c.(2770-2772)tafs	p.Y924fs	FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000295956.4_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000490882.1_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs			O75369	FLNB_HUMAN	filamin B, beta	924				Y -> H (in Ref. 6; CAE46040).	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTGACTTACGGTGGCGATC	0.473													26	51	---	---	---	---						-	58104625	C	-	58104625	7	5	112	1	0	1	0	1	0	0	0	0	5967	547	19	0	2846	0	FLNB	3	58104625	Frame_Shift_Del	DEL	C	TCGA-SP-A6QJ-01A-11D-A35I-08		58104625	139917805	4	1960											
PDLIM5	10611	broad.mit.edu	37	4	95376476	95376476	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr4:95376476C>T	ENST00000317968.4	+	2	173	c.37C>T	c.(37-39)Cct>Tct	p.P13S	PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	13	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGCCCAGCTCCTTGGGGTTT	0.408													6	12					0	0	1	0	0	T	95376476	C	T	95376476	3	4	112	1	0	0	0	0	1	0	0	0	11730	855	30	3	39	3	PDLIM5	4	95376476	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08		95376476	95777800	5	1961											
CHSY3	337876	broad.mit.edu	37	5	129520747	129520747	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr5:129520747A>G	ENST00000305031.4	+	3	2270	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	638						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CTTGAGATTCATGGAGAACTT	0.398													9	71					0	0	1	0	0	G	129520747	A	G	129520747	3	3	112	1	0	0	0	0	1	0	0	0	3435	217	8	4	1922	4	CHSY3	5	129520747	Missense_Mutation	SNP	A	TCGA-SP-A6QJ-01A-11D-A35I-08		129520747	51394513	6	1962											
MAP3K4	4216	broad.mit.edu	37	6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597													5	137					0	0	1	0	0	T	161519378	C	T	161519378	3	4	112	1	0	0	0	0	1	0	0	0	9302	797	28	3	3659	3	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08		161519378	9595689	7	1963											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			30	36					0	0	1	0	0	C	533874	T	C	533874	3	2	112	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		533874	134472642	8	1964											
AHNAK	79026	broad.mit.edu	37	11	62294307	62294307	+	Missense_Mutation	SNP	G	G	A	rs151063380		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:62294307G>A	ENST00000378024.4	-	5	7856	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2528					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTACTTCAGGGCCCTCTGCT	0.507													7	180					0	0	1	0	0	A	62294307	G	A	62294307	3	1	112	1	0	0	0	0	1	0	0	0	411	1232	43	3	10210	3	AHNAK	11	62294307	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08	61760433	62294307	72712209	9	1965											
H1FNT	341567	broad.mit.edu	37	12	48723377	48723377	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr12:48723377G>T	ENST00000335017.1	+	1	615	c.303G>T	c.(301-303)agG>agT	p.R101S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	101					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AAGCGCCCAGGGGGCAGGCCA	0.672													8	7					0.000274275	0.000274275	1	1	0	T	48723377	G	T	48723377	3	4	112	1	0	0	0	0	1	0	0	0	6962	1223	43	5	305	5	H1FNT	12	48723377	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		48723377	85128518	10	1966											
SKA3	221150	broad.mit.edu	37	13	21746483	21746483	+	Missense_Mutation	SNP	T	T	G			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr13:21746483T>G	ENST00000314759.5	-	3	450	c.326A>C	c.(325-327)aAt>aCt	p.N109T	SKA3_ENST00000400018.3_Missense_Mutation_p.N109T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	109					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAACCTGAATTTTTCTTGAC	0.303													32	46					0	0	1	0	0	G	21746483	T	G	21746483	3	3	112	1	0	0	0	0	1	0	0	0	14409	1493	52	5	987	5	SKA3	13	21746483	Missense_Mutation	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		21746483	93423395	11	1967											
CEACAM5	1048	broad.mit.edu	37	19	42231224	42231224	+	Silent	SNP	T	T	G			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr19:42231224T>G	ENST00000221992.6	+	9	2211	c.2097T>G	c.(2095-2097)gtT>gtG	p.V699V	CEACAM5_ENST00000398599.4_Silent_p.V698V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.V699V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	699						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGTTGGGGTTGCTCTGATAT	0.498													12	218					0	0	1	0	0	G	42231224	T	G	42231224	2	3	112	1	0	0	0	0	0	0	0	1	3217	1799	63	5		5	CEACAM5	19	42231224	Silent	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		42231224	16897759	12	1968											
CACNA1F	778	broad.mit.edu	37	X	49062200	49062200	+	Missense_Mutation	SNP	G	G	A	rs2856748		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:49062200G>A	ENST00000376265.2	-	47	5640	c.5579C>T	c.(5578-5580)gCg>gTg	p.A1860V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1860				A -> G (in Ref. 4; AAB92359).	axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A1860V(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCCTCCCCCGCTGCGCCCTC	0.652													7	7					0	0	1	0	0	A	49062200	G	A	49062200	3	1	112	1	0	0	0	0	1	0	0	0	2561	1087	38	1	362	1	CACNA1F	23	49062200	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		49062200	106208360	13	1969											
HUWE1	10075	broad.mit.edu	37	X	53602646	53602646	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:53602646C>A	ENST00000342160.3	-	44	6444	c.5987G>T	c.(5986-5988)cGt>cTt	p.R1996L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1996					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTCTGACGCGTAAGTGA	0.443													24	34					2.39556e-15	2.59519e-15	1	1	0	A	53602646	C	A	53602646	3	1	112	1	0	0	0	0	1	0	0	0	7505	536	19	5	7297	5	HUWE1	23	53602646	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08	4540446	53602646	101667914	14	1970											
LRP8	7804	broad.mit.edu	37	1	53732212	53732212	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:53732212C>T	ENST00000306052.6	-	9	1461	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T|LRP8_ENST00000354412.3_Missense_Mutation_p.A325T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	454					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACATCTAGTGCCACGACATTC	0.542													3	43					0	0	1	0	0	T	53732212	C	T	53732212	3	4	113	1	0	0	0	0	1	0	0	0	9008	739	26	3	1575	3	LRP8	1	53732212	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		53732212	195518409	1	1971											
PDE4DIP	9659	broad.mit.edu	37	1	144863392	144863392	+	Missense_Mutation	SNP	T	T	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:144863392T>G	ENST00000369359.4	-	40	6457	c.6419A>C	c.(6418-6420)cAg>cCg	p.Q2140P	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2004P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2004					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAAAGAGCTGCTGTTTCTC	0.532			T	PDGFRB	MPD								8	166					0	0	1	0	0	G	144863392	T	G	144863392	3	3	113	1	0	0	0	0	1	0	0	0	11690	1580	55	5	1061	5	PDE4DIP	1	144863392	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08	91131180	144863392	104387229	2	1972											
PHF7	51533	broad.mit.edu	37	3	52456806	52456806	+	Silent	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr3:52456806C>T	ENST00000327906.3	+	10	1488	c.828C>T	c.(826-828)tgC>tgT	p.C276C	PHF7_ENST00000347025.2_Silent_p.C237C|PHF7_ENST00000478707.1_Silent_p.C276C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	276						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGCTACATGCGGATCCCACG	0.532													4	119					0	0	1	0	0	T	52456806	C	T	52456806	2	4	113	1	0	0	0	0	0	0	0	1	11887	776	27	1		1	PHF7	3	52456806	Silent	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		52456806	145565624	3	1973											
BBS7	0	broad.mit.edu	37	4	122774228	122774228	+	Silent	SNP	A	A	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:122774228A>G	ENST00000264499.4	-	8	915	c.732T>C	c.(730-732)atT>atC	p.I244I	BBS7_ENST00000506636.1_Silent_p.I244I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	244					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAAAGCTGTCAATACACAAAA	0.333									Bardet-Biedl syndrome				14	44					0	0	1	0	0	G	122774228	A	G	122774228	2	3	113	1	0	0	0	0	0	0	0	1	1339	126	5	4		4	BBS7	4	122774228	Silent	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08		122774228	68380048	4	1974											
FAT1	2195	broad.mit.edu	37	4	187527280	187527280	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:187527280C>T	ENST00000441802.2	-	17	10503	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3432	Cadherin 31.				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						TCATTGACATCGGACACATCG	0.507										HNSCC(5;0.00058)			9	96					0	0	1	0	0	T	187527280	C	T	187527280	3	4	113	1	0	0	0	0	1	0	0	0	5722	884	31	2	3516	2	FAT1	4	187527280	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08	64753052	187527280	3626996	5	1975											
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													3	4	---	---	---	---						-	90556398	T	-	90556398	6	5	113	0	1	1	0	1	0	0	0	0	2696	1624	56	0		0	CASP8AP2	6	90556398	RNA	DEL	T	TCGA-SP-A6QK-01A-11D-A35I-08		90556398	80558669	6	1976											
NCOA7	135112	broad.mit.edu	37	6	126210125	126210125	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr6:126210125G>C	ENST00000368357.3	+	10	1277	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q|NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	309					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAGGCCTGGAGAATGGGAAGA	0.408													4	180					0	0	1	0	0	C	126210125	G	C	126210125	3	2	113	1	0	0	0	0	1	0	0	0	10281	943	33	5	955	5	NCOA7	6	126210125	Missense_Mutation	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08	35653727	126210125	44904942	7	1977											
ZNF484	83744	broad.mit.edu	37	9	95609713	95609713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:95609713delT	ENST00000395505.2	-	3	1340	c.1248delA	c.(1246-1248)aafs	p.K416fs	ZNF484_ENST00000375495.3_Frame_Shift_Del_p.K452fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGAGTTGTGATTTTTTAATAA	0.383													19	83	---	---	---	---						-	95609713	T	-	95609713	7	5	113	1	0	1	0	1	0	0	0	0	17994	1490	52	0	1206	0	ZNF484	9	95609713	Frame_Shift_Del	DEL	T	TCGA-SP-A6QK-01A-11D-A35I-08		95609713	45603718	8	1978											
SVEP1	79987	broad.mit.edu	37	9	113242030	113242030	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:113242030C>T	ENST00000401783.2	-	13	2708	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	791					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTTGCAAAACGTTTTTCTAG	0.343													49	132					0	0	1	0	0	T	113242030	C	T	113242030	3	4	113	1	0	0	0	0	1	0	0	0	15476	536	19	1	8487	1	SVEP1	9	113242030	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08	17632317	113242030	27971401	9	1979											
RET	5979	broad.mit.edu	37	10	43607567	43607567	+	Missense_Mutation	SNP	T	T	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43607567T>A	ENST00000355710.3	+	8	1775	c.1543T>A	c.(1543-1545)Tgc>Agc	p.C515S	RET_ENST00000340058.5_Missense_Mutation_p.C515S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	515					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGAGGCGGGCTGCCCCCTGTC	0.667		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	11					0	0	1	0	0	A	43607567	T	A	43607567	3	1	113	1	0	0	0	0	1	0	0	0	13287	1580	55	5	1573	5	RET	10	43607567	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08		43607567	91927180	10	1980											
RET	5979	broad.mit.edu	37	10	43609948	43609948	+	Missense_Mutation	SNP	T	T	C	rs75076352		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43609948T>C	ENST00000355710.3	+	11	2132	c.1900T>C	c.(1900-1902)Tgc>Cgc	p.C634R	RET_ENST00000340058.5_Missense_Mutation_p.C634R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	634			C -> CHELC (in MEN2A).|C -> F (in MEN2A and pheochromocytoma).|C -> G (in MEN2A and pheochromocytoma).|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma).|C -> S (in MEN2A, pheochromocytoma and MTC; familial form).|C -> W (in MEN2A, pheochromocytoma and MTC; familial form).|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form).|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGACGAGCTGTGCCGCACGGT	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	27					0	0	1	0	0	C	43609948	T	C	43609948	3	2	113	1	0	0	0	0	1	0	0	0	13287	1696	59	4	1942	4	RET	10	43609948	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08	2381	43609948	91924799	11	1981											
RASA3	22821	broad.mit.edu	37	13	114782724	114782724	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr13:114782724C>T	ENST00000334062.7	-	12	1316	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	RASA3_ENST00000389544.4_Missense_Mutation_p.A367T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	399	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCTCGATGGCGGGCTTCAGG	0.622											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	126					0	0	1	0	0	T	114782724	C	T	114782724	3	4	113	1	0	0	0	0	1	0	0	0	13114	768	27	1	1361	1	RASA3	13	114782724	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		114782724	387154	12	1982											
KCTD5	54442	broad.mit.edu	37	16	2732747	2732747	+	Silent	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:2732747G>A	ENST00000301738.4	+	1	272	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KCTD5_ENST00000564195.1_Silent_p.P66P	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	66	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCCGGGACCCGAAATCCTTCC	0.687													13	30					0	0	1	0	0	A	2732747	G	A	2732747	2	1	113	1	0	0	0	0	0	0	0	1	8156	1045	37	2		2	KCTD5	16	2732747	Silent	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08		2732747	87622006	13	1983											
ADAD2	161931	broad.mit.edu	37	16	84224883	84224883	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:84224883A>G	ENST00000268624.3	+	1	140	c.47A>G	c.(46-48)aAg>aGg	p.K16R	ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.K16R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	16					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTCGTAGGAAGCCCCGCCTG	0.716													6	6					0	0	1	0	0	G	84224883	A	G	84224883	3	3	113	1	0	0	0	0	1	0	0	0	231	72	3	4	49	4	ADAD2	16	84224883	Missense_Mutation	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08	81492136	84224883	6129870	14	1984											
MYO15A	51168	broad.mit.edu	37	17	18023292	18023293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr17:18023292_18023293insC	ENST00000205890.5	+	2	1516_1517	c.1178_1179insC	c.(1177-1179)tccfs	p.S393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAGG	0.619													7	141	---	---	---	---						C	18023293	-	C	18023292	7	5	113	1	0	1	1	0	0	0	0	0	10111	391	14	0	1180	0	MYO15A	17	18023292	Frame_Shift_Ins	INS	-	TCGA-SP-A6QK-01A-11D-A35I-08		18023292	63171918	15	1985											
KLK12	43849	broad.mit.edu	37	19	51534095	51534095	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr19:51534095G>A	ENST00000529888.1	-	4	355	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	KLK12_ENST00000319590.4_Silent_p.I180I|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I|KLK12_ENST00000525263.1_Silent_p.I180I	NM_145895.1	NP_665902.1	Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	0	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TGTTGCTCGTGATTCTCCCGG	0.622													61	128					0	0	1	0	0	A	51534095	G	A	51534095	3	1	113	1	0	0	0	0	1	0	0	0	8443	1290	45	3	276	3	KLK12	19	51534095	Missense_Mutation	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08		51534095	7594888	16	1986											
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													7	537					0	0	1	0	0	G	49355893	C	G	49355893	3	3	113	1	0	0	0	0	1	0	0	0	6226	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		49355893	105914667	17	1987											
IL13RA1	3597	broad.mit.edu	37	X	117892071	117892071	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:117892071A>G	ENST00000371666.3	+	5	609	c.542A>G	c.(541-543)cAa>cGa	p.Q181R	IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	181						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAGAAGGCCAATACTTTGGT	0.348													32	119					0	0	1	0	0	G	117892071	A	G	117892071	3	3	113	1	0	0	0	0	1	0	0	0	7673	130	5	4	560	4	IL13RA1	23	117892071	Missense_Mutation	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08	68536178	117892071	37378489	18	1988											
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617													4	99					0	0	1	0	0	A	153134383	G	A	153134383	3	1	113	1	0	0	0	0	1	0	0	0	8627	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08	35242312	153134383	2136177	19	1989											
C1orf106	55765	broad.mit.edu	37	1	200881013	200881013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr1:200881013delG	ENST00000367342.4	+	9	1847	c.1647delG	c.(1645-1647)gafs	p.E549fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	549										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACGAGGAGGAGGGCACTCCCC	0.741													2	4	---	---	---	---						-	200881013	G	-	200881013	7	5	114	1	0	1	0	1	0	0	0	0	1993	991	35	0	1681	0	C1orf106	1	200881013	Frame_Shift_Del	DEL	G	TCGA-SQ-A6I4-01A-11D-A35I-08		200881013	48369608	1	1990											
SOCS5	0	broad.mit.edu	37	2	46986916	46986916	+	Missense_Mutation	SNP	C	C	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr2:46986916C>A	ENST00000306503.5	+	2	1419	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	416	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACCTCTTCTCTGTGAGCTTC	0.527													24	67					1.55469e-16	1.69603e-16	1	1	0	A	46986916	C	A	46986916	3	1	114	1	0	0	0	0	1	0	0	0	14971	913	32	5	1249	5	SOCS5	2	46986916	Missense_Mutation	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08		46986916	196212457	2	1991											
ANK1	286	broad.mit.edu	37	8	41582014	41582014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr8:41582014delA	ENST00000396942.1	-	7	754	c.671delT	c.(670-672)tgfs	p.L226fs	ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	226	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTGAGGAGCAACTGGGCCAC	0.587													2	4	---	---	---	---						-	41582014	A	-	41582014	7	5	114	1	0	1	0	1	0	0	0	0	616	131	5	0	5472	0	ANK1	8	41582014	Frame_Shift_Del	DEL	A	TCGA-SQ-A6I4-01A-11D-A35I-08		41582014	104782008	3	1992											
CD82	3732	broad.mit.edu	37	11	44640634	44640634	+	Silent	SNP	G	G	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:44640634G>A	ENST00000227155.4	+	10	1010	c.762G>A	c.(760-762)cgG>cgA	p.R254R	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GCTTGTGCCGGCACGTCCATT	0.652													4	38					0	0	1	0	0	A	44640634	G	A	44640634	2	1	114	1	0	0	0	0	0	0	0	1	3062	1190	42	3		3	CD82	11	44640634	Silent	SNP	G	TCGA-SQ-A6I4-01A-11D-A35I-08		44640634	90365882	4	1993											
ARHGEF17	9828	broad.mit.edu	37	11	73021126	73021126	+	Silent	SNP	C	C	T	rs145219831		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:73021126C>T	ENST00000263674.3	+	1	1793	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	481					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGCTCAGACCTTTCAGAGC	0.577													4	22					0	0	1	0	0	T	73021126	C	T	73021126	2	4	114	1	0	0	0	0	0	0	0	1	897	506	18	3		3	ARHGEF17	11	73021126	Silent	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08	28380492	73021126	61985390	5	1994											
ANGEL1	23357	broad.mit.edu	37	14	77275462	77275462	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr14:77275462T>C	ENST00000251089.2	-	2	701	c.589A>G	c.(589-591)Atc>Gtc	p.I197V		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	197										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGGGCCAGATGGAAGCCTCT	0.612													5	23					0	0	1	0	0	C	77275462	T	C	77275462	3	2	114	1	0	0	0	0	1	0	0	0	604	1464	51	4	1459	4	ANGEL1	14	77275462	Missense_Mutation	SNP	T	TCGA-SQ-A6I4-01A-11D-A35I-08		77275462	30074078	6	1995											
MAP2K1	5604	broad.mit.edu	37	15	66727443	66727457	+	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCTTACCCAGAAGCA	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	ENST00000307102.5	+	2	690_704	c.159_173delTCTTACCCAGAAGCA	c.(157-174)ttg>tt	p.FLTQKQ53del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)|p.K57T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA	0.553													15	96	---	---	---	---						-	66727457	TCTTACCCAGAAGCA	-	66727443	7	5	114	1	0	1	0	1	0	0	0	0	9286	1780	62	0	165	0	MAP2K1	15	66727443	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCGA-SQ-A6I4-01A-11D-A35I-08		66727443	35803949	7	1996											
PML	5371	broad.mit.edu	37	15	74336715	74336715	+	Missense_Mutation	SNP	C	C	G			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:74336715C>G	ENST00000565898.1	+	8	1955	c.1871C>G	c.(1870-1872)cCt>cGt	p.P624R	PML_ENST00000268058.3_Missense_Mutation_p.P672R			P29590	PML_HUMAN	promyelocytic leukemia	672					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ATGCGCCGCCCTATCTTGGCC	0.602			T	"RARA, PAX5"	"APL, ALL"								23	53					0	0	1	0	0	G	74336715	C	G	74336715	3	3	114	1	0	0	0	0	1	0	0	0	12183	681	24	5	3066	5	PML	15	74336715	Missense_Mutation	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08	7609272	74336715	28194677	8	1997											
HP	3240	broad.mit.edu	37	16	72094218	72094218	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr16:72094218T>C	ENST00000355906.5	+	7	708	c.650T>C	c.(649-651)aTt>aCt	p.I217T	HP_ENST00000565574.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000570083.1_Missense_Mutation_p.I158T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	217	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCGAAAGACATTGCCCCTACT	0.453													7	39					0	0	1	0	0	C	72094218	T	C	72094218	3	2	114	1	0	0	0	0	1	0	0	0	7368	1493	52	4	676	4	HP	16	72094218	Missense_Mutation	SNP	T	TCGA-SQ-A6I4-01A-11D-A35I-08		72094218	18260535	9	1998											
CCDC105	126402	broad.mit.edu	37	19	15121690	15121691	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr19:15121690_15121691delCC	ENST00000292574.3	+	1	135_136	c.53_54delCC	c.(52-54)gfs	p.A18fs		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	18					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGTTGGGGCCCCAGCATGGC	0.698													6	4	---	---	---	---						-	15121691	CC	-	15121690	7	5	114	1	0	1	0	1	0	0	0	0	2758	739	26	0	55	0	CCDC105	19	15121690	Frame_Shift_Del	DEL	CC	TCGA-SQ-A6I4-01A-11D-A35I-08		15121690	44007293	10	1999											
RBBP5	5929	broad.mit.edu	37	1	205070793	205070793	+	Missense_Mutation	SNP	G	G	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:205070793G>C	ENST00000264515.6	-	6	708	c.567C>G	c.(565-567)ttC>ttG	p.F189L	RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	189					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGTCACTCTGAAGGAAGCAA	0.393													117	143					0	0	1	0	0	C	205070793	G	C	205070793	3	2	115	1	0	0	0	0	1	0	0	0	13154	1281	45	5	1085	5	RBBP5	1	205070793	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		205070793	44179828	1	2000											
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373													6	625					0	0	1	0	0	A	225611758	G	A	225611758	3	1	115	1	0	0	0	0	1	0	0	0	8691	1203	42	3	1879	3	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	20540965	225611758	23638863	2	2001											
OXER1	165140	broad.mit.edu	37	2	42990174	42990174	+	Silent	SNP	G	G	A	rs145580414	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:42990174G>A	ENST00000378661.2	-	1	1227	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	382					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGAGCTCTCGTCGCTCACTG	0.667													37	66					0	0	1	0	0	A	42990174	G	A	42990174	2	1	115	1	0	0	0	0	0	0	0	1	11378	1136	40	1		1	OXER1	2	42990174	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		42990174	200209199	3	2002											
MBD5	0	broad.mit.edu	37	2	149227911	149227911	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:149227911G>A	ENST00000407073.1	+	9	3396	c.2399G>A	c.(2398-2400)gGc>gAc	p.G800D	MBD5_ENST00000404807.1_Missense_Mutation_p.G800D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	800						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTCAGTCGGGCATGGCTTTA	0.453													4	195					0	0	1	0	0	A	149227911	G	A	149227911	3	1	115	1	0	0	0	0	1	0	0	0	9397	1203	42	3	2413	3	MBD5	2	149227911	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	106237737	149227911	93971462	4	2003											
CCDC150	284992	broad.mit.edu	37	2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-	rs75642251		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)cafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373													7	42	---	---	---	---						-	197531519	A	-	197531519	7	5	115	1	0	1	0	1	0	0	0	0	2803	130	5	0	865	0	CCDC150	2	197531519	Frame_Shift_Del	DEL	A	TCGA-SQ-A6I6-01A-11D-A35I-08	48303608	197531519	45667854	5	2004											
CCNI	10983	broad.mit.edu	37	4	77969505	77969505	+	Missense_Mutation	SNP	T	T	C	rs139547927	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr4:77969505T>C	ENST00000237654.4	-	7	1577	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	334					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GATTCCATCATAGAAGTCATC	0.453													61	112					0	0	1	0	0	C	77969505	T	C	77969505	3	2	115	1	0	0	0	0	1	0	0	0	2948	1406	49	4	136	4	CCNI	4	77969505	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08		77969505	113184771	6	2005											
ERCC8	1161	broad.mit.edu	37	5	60240835	60240835	+	Translation_Start_Site	SNP	T	T	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr5:60240835T>C	ENST00000426742.2	-	0	43				ERCC8_ENST00000543101.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000265038.5_Start_Codon_SNP_p.M1V			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8						positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				AACCCCAGCATATCGTGTCCT	0.557													5	87					0	0	1	0	0	C	60240835	T	C	60240835	1	2	115	1	0	0	0	0	0	0	0	0	5247	1406	49	4		4	ERCC8	5	60240835	Translation_Start_Site	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08		60240835	120674425	7	2006											
P4HA2	8974	broad.mit.edu	37	5	131534588	131534588	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr5:131534588T>C	ENST00000401867.1	-	12	1857	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	430	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAAGTCGAAGTGCGGTTCATA	0.483													4	78					0	0	1	0	0	C	131534588	T	C	131534588	3	2	115	1	0	0	0	0	1	0	0	0	11404	1696	59	4	402	4	P4HA2	5	131534588	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08	71293753	131534588	49380672	8	2007											
FAM83A	84985	broad.mit.edu	37	8	124195302	124195302	+	Missense_Mutation	SNP	A	A	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr8:124195302A>G	ENST00000518448.1	+	2	2220	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGAGGCCCAGTACATCCAG	0.677													25	43					0	0	1	0	0	G	124195302	A	G	124195302	3	3	115	1	0	0	0	0	1	0	0	0	5665	188	7	4	208	4	FAM83A	8	124195302	Missense_Mutation	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08		124195302	22168720	9	2008											
NUP188	23511	broad.mit.edu	37	9	131767807	131767807	+	Missense_Mutation	SNP	C	C	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:131767807C>G	ENST00000372577.2	+	40	4756	c.4735C>G	c.(4735-4737)Cag>Gag	p.Q1579E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1579					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTGCTGGATCAGGTACTGCC	0.577													4	220					0	0	1	0	0	G	131767807	C	G	131767807	3	3	115	1	0	0	0	0	1	0	0	0	10806	827	29	5	4893	5	NUP188	9	131767807	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		131767807	9445624	10	2009											
BICC1	80114	broad.mit.edu	37	10	60553271	60553271	+	Missense_Mutation	SNP	G	G	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr10:60553271G>C	ENST00000373886.3	+	9	1079	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	359					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GTTGATGTTTGATATGAAGGA	0.358													5	104					0	0	1	0	0	C	60553271	G	C	60553271	3	2	115	1	0	0	0	0	1	0	0	0	1426	1290	45	5	1109	5	BICC1	10	60553271	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		60553271	74981476	11	2010											
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498													4	150					0	0	1	0	0	A	9187392	G	A	9187392	2	1	115	1	0	0	0	0	0	0	0	1	4464	1195	42	3		3	DENND5A	11	9187392	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		9187392	125819124	12	2011											
TIMM10	26519	broad.mit.edu	37	11	57296266	57296266	+	Missense_Mutation	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:57296266C>T	ENST00000257245.4	-	3	349	c.197G>A	c.(196-198)gGc>gAc	p.G66D	TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			cervix(1)|large_intestine(2)	3						CAACTTTTTGCCCATCCGCTC	0.542													4	154					0	0	1	0	0	T	57296266	C	T	57296266	3	4	115	1	0	0	0	0	1	0	0	0	15965	739	26	3	79	3	TIMM10	11	57296266	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	48108874	57296266	77710250	13	2012											
LTBP3	4054	broad.mit.edu	37	11	65314941	65314941	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:65314941C>T	ENST00000301873.5	-	14	2344	c.2076G>A	c.(2074-2076)cgG>cgA	p.R692R	LTBP3_ENST00000536982.1_Silent_p.R318R|LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000322147.4_Silent_p.R692R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	692	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTTTGAGCCGGTAGCCGG	0.627													4	131					0	0	1	0	0	T	65314941	C	T	65314941	2	4	115	1	0	0	0	0	0	0	0	1	9120	726	26	3		3	LTBP3	11	65314941	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	8018675	65314941	69691575	14	2013											
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	AA	rs141435934		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:66321927_66321928insAA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													3	4	---	---	---	---						AA	66321928	-	AA	66321927	6	5	115	0	1	1	1	0	0	0	0	0	206	841	29	0		0	ACTN3	11	66321927	RNA	INS	-	TCGA-SQ-A6I6-01A-11D-A35I-08	1006986	66321927	68684589	15	2014											
MMP27	64066	broad.mit.edu	37	11	102567138	102567138	+	Missense_Mutation	SNP	G	G	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:102567138G>T	ENST00000260229.4	-	6	957	c.866C>A	c.(865-867)aCa>aAa	p.T289K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	289	Hemopexin-like 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GCGGAAAGTTGTGATAGCGTC	0.413													42	54					3.76604e-16	4.07347e-16	1	1	0	T	102567138	G	T	102567138	3	4	115	1	0	0	0	0	1	0	0	0	9713	1377	48	5	695	5	MMP27	11	102567138	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	36245211	102567138	32439378	16	2015											
CRY1	1407	broad.mit.edu	37	12	107391082	107391082	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr12:107391082G>A	ENST00000008527.5	-	10	2442	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	525					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTCCACTGCTGCTACAACCTG	0.343													5	488					0	0	1	0	0	A	107391082	G	A	107391082	2	1	115	1	0	0	0	0	0	0	0	1	3926	1310	46	3		3	CRY1	12	107391082	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		107391082	26460813	17	2016											
VPS36	51028	broad.mit.edu	37	13	52990060	52990061	+	Splice_Site	INS	-	-	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGCAGCAACCTAAAAAAAAACA	0.396													9	247	---	---	---	---						A	52990061	-	A	52990060	8	5	115	1	0	1	1	0	0	0	1	0	17264	1536	53	0	98	0	VPS36	13	52990060	Splice_Site	INS	-	TCGA-SQ-A6I6-01A-11D-A35I-08		52990060	62179818	18	2017											
ACAN	176	broad.mit.edu	37	15	89402355	89402355	+	Missense_Mutation	SNP	A	A	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89402355A>T	ENST00000439576.2	+	12	6913	c.6539A>T	c.(6538-6540)gAg>gTg	p.E2180V	ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V|ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000561243.1_Missense_Mutation_p.E2180V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2180					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGGGACAGAGGCACCAGGC	0.592													4	130					0	0	1	0	0	T	89402355	A	T	89402355	3	4	115	1	0	0	0	0	1	0	0	0	117	304	11	5	6581	5	ACAN	15	89402355	Missense_Mutation	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08		89402355	13129037	19	2018											
FANCI	55215	broad.mit.edu	37	15	89804896	89804896	+	Missense_Mutation	SNP	T	T	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89804896T>A	ENST00000310775.7	+	5	455	c.369T>A	c.(367-369)aaT>aaA	p.N123K	FANCI_ENST00000300027.8_Missense_Mutation_p.N123K|FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	123					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCTAGTGAATGGAAAATCTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				123	213					0	0	1	0	0	A	89804896	T	A	89804896	3	1	115	1	0	0	0	0	1	0	0	0	5702	1461	51	5	383	5	FANCI	15	89804896	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08	402541	89804896	12726496	20	2019											
POLG	5428	broad.mit.edu	37	15	89862284	89862284	+	Missense_Mutation	SNP	C	C	A	rs121918049		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89862284C>A	ENST00000268124.5	-	20	3484	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W	POLG_ENST00000442287.2_Missense_Mutation_p.G1051W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1051			G -> R (in SANDO).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCTGTGCCCCCCTTCCATGCC	0.532								DNA polymerases (catalytic subunits)					4	173					1	1	1	1	0	A	89862284	C	A	89862284	3	1	115	1	0	0	0	0	1	0	0	0	12248	623	22	5	584	5	POLG	15	89862284	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	57388	89862284	12669108	21	2020											
MSLNL	401827	broad.mit.edu	37	16	819596	819596	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:819596C>T	ENST00000293892.3	-	16	2993	c.2994G>A	c.(2992-2994)gcG>gcA	p.A998A	MSLNL_ENST00000442466.1_Silent_p.A647A			Q96KJ4	MSLNL_HUMAN	mesothelin-like	647					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCAGGGCCATCGCCAGGGGCA	0.652													3	42					0	0	1	0	0	T	819596	C	T	819596	2	4	115	1	0	0	0	0	0	0	0	1	9930	871	31	2		2	MSLNL	16	819596	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		819596	89535157	22	2021											
USP31	57478	broad.mit.edu	37	16	23117810	23117810	+	Splice_Site	SNP	T	T	A	rs137886921	by1000genomes	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:23117810T>A	ENST00000219689.7	-	3	771		c.e3-2			NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGATGGTGGCTAAAAAAAAAA	0.388													3	29					0	0	1	0	0	A	23117810	T	A	23117810	5	1	115	1	0	0	0	0	0	0	1	0	17122	1536	53	5	3344	5	USP31	16	23117810	Splice_Site	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08	22298214	23117810	67236943	23	2022											
CDH15	1013	broad.mit.edu	37	16	89261332	89261332	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:89261332C>T	ENST00000289746.2	+	14	2279	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	738					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCATCTATGACTACGAGGGTG	0.622													22	56					0	0	1	0	0	T	89261332	C	T	89261332	2	4	115	1	0	0	0	0	0	0	0	1	3122	564	20	3		3	CDH15	16	89261332	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	66143522	89261332	1093421	24	2023											
NF1	4763	broad.mit.edu	37	17	29556251	29556252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:29556251_29556252insT	ENST00000358273.4	+	21	3001_3002	c.2618_2619insT	c.(2617-2619)caafs	p.Q873fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q873fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	873			R -> C (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCAGTGAACGTAAGGGTTCTA	0.5			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			83	34	---	---	---	---						T	29556252	-	T	29556251	7	5	115	1	0	1	1	0	0	0	0	0	10403	1145	40	0	2761	0	NF1	17	29556251	Frame_Shift_Ins	INS	-	TCGA-SQ-A6I6-01A-11D-A35I-08		29556251	51638959	25	2024											
CDK5RAP3	80279	broad.mit.edu	37	17	46051813	46051813	+	Splice_Site	SNP	A	A	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:46051813A>C	ENST00000536708.2	+	5	517	c.409_splice	c.e5+1	p.L136_splice	CDK5RAP3_ENST00000338399.4_Splice_Site_p.L111_splice	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	111					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACACCTACTTAGGTAAAGTGG	0.498													38	79					0	0	1	0	0	C	46051813	A	C	46051813	5	2	115	1	0	0	0	0	0	0	1	0	3169	434	15	5	351	5	CDK5RAP3	17	46051813	Splice_Site	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08	16495562	46051813	35143397	26	2025											
NWD1	284434	broad.mit.edu	37	19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:16902242G>A	ENST00000524140.2	+	14	3440	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													71	90					0	0	1	0	0	A	16902242	G	A	16902242	3	1	115	1	0	0	0	0	1	0	0	0	10829	1145	40	1	2655	1	NWD1	19	16902242	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		16902242	42226741	27	2026											
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662													32	38					0	0	1	0	0	A	45885941	G	A	45885941	2	1	115	1	0	0	0	0	0	0	0	1	12407	1140	40	1		1	PPP1R13L	19	45885941	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	28983699	45885941	13243042	28	2027											
CD37	0	broad.mit.edu	37	19	49840216	49840216	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:49840216G>A	ENST00000535669.2	+	3	307	c.193G>A	c.(193-195)Gga>Aga	p.G65R	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Missense_Mutation_p.G65R|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR			P11049	CD37_HUMAN	CD37 molecule	65						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GGCCATCTCAGGAATCTTCAC	0.632													3	51					0	0	1	0	0	A	49840216	G	A	49840216	3	1	115	1	0	0	0	0	1	0	0	0	3030	1001	35	3	203	3	CD37	19	49840216	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	3954275	49840216	9288767	29	2028											
SGSM1	129049	broad.mit.edu	37	22	25243680	25243680	+	Silent	SNP	C	C	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr22:25243680C>G	ENST00000400358.4	+	4	276	c.219C>G	c.(217-219)ctC>ctG	p.L73L	SGSM1_ENST00000400359.4_Silent_p.L73L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	73	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGCAGCCCTCTTTATGAAAG	0.617													31	7					0	0	1	0	0	G	25243680	C	G	25243680	2	3	115	1	0	0	0	0	0	0	0	1	14276	900	32	5		5	SGSM1	22	25243680	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		25243680	26060886	30	2029											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	95					0	0	1	0	0	A	150156360	G	A	150156360	2	1	115	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		150156360	5114200	31	2030											
EIF4G3	8672	broad.mit.edu	37	1	21226240	21226240	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:21226240G>A	ENST00000602326.1	-	14	2382	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S594L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	594					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTGGAGCCTGAATTAGCATC	0.423													28	177					0	0	1	0	0	A	21226240	G	A	21226240	3	1	116	1	0	0	0	0	1	0	0	0	5066	1294	45	3	3064	3	EIF4G3	1	21226240	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		21226240	228024381	1	2031											
DOCK7	85440	broad.mit.edu	37	1	63042971	63042971	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:63042971C>G	ENST00000251157.5	-	18	2107	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q	DOCK7_ENST00000340370.5_Missense_Mutation_p.E692Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	692	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGTGGTTTTTCCAATGAGACT	0.368													42	53					0	0	1	0	0	G	63042971	C	G	63042971	3	3	116	1	0	0	0	0	1	0	0	0	4719	864	30	5	4383	5	DOCK7	1	63042971	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	41816731	63042971	186207650	2	2032											
ABCD3	5825	broad.mit.edu	37	1	94884143	94884143	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:94884143G>A	ENST00000370214.4	+	1	133	c.110_splice	c.e1+1	p.G37_splice	ABCD3_ENST00000315713.5_Splice_Site_p.G37_splice|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Splice_Site_p.G37_splice|ABCD3_ENST00000454898.2_Splice_Site_p.G37_splice	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	37	Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CGGCCTGCACGGGTAAGAAGG	0.701													3	18					0	0	1	0	0	A	94884143	G	A	94884143	5	1	116	1	0	0	0	0	0	0	1	0	62	1130	39	2	111	2	ABCD3	1	94884143	Splice_Site	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	31841172	94884143	154366478	3	2033											
PRRT3	285368	broad.mit.edu	37	3	9989643	9989643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:9989643delG	ENST00000412055.1	-	4	1343	c.1214delC	c.(1213-1215)cafs	p.P405fs	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	405	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGGGGTGCTGGGGGATGGCT	0.602													2	4	---	---	---	---						-	9989643	G	-	9989643	7	5	116	1	0	1	0	1	0	0	0	0	12661	1348	47	0	1735	0	PRRT3	3	9989643	Frame_Shift_Del	DEL	G	TCGA-SR-A6MP-01A-11D-A35I-08		9989643	188032787	4	2034											
GPR156	165829	broad.mit.edu	37	3	119962585	119962585	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:119962585T>A	ENST00000464295.1	-	3	580	c.135A>T	c.(133-135)ttA>ttT	p.L45F	GPR156_ENST00000461057.1_Missense_Mutation_p.L45F|GPR156_ENST00000315843.3_Missense_Mutation_p.L45F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	45						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGACAGGAGATAATGAAGAGA	0.423													20	7					0	0	1	0	0	A	119962585	T	A	119962585	3	1	116	1	0	0	0	0	1	0	0	0	6701	1403	49	5	2341	5	GPR156	3	119962585	Missense_Mutation	SNP	T	TCGA-SR-A6MP-01A-11D-A35I-08	109972942	119962585	78059845	5	2035											
WHSC1	7468	broad.mit.edu	37	4	1918661	1918661	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr4:1918661G>T	ENST00000503128.1	+	4	1031	c.824G>T	c.(823-825)tGg>tTg	p.W275L	WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382895.3_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	275	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAAGAGCTTGGATATTTGAG	0.408			T	IGH@	MM								12	85					2.27111e-07	2.37205e-07	1	1	0	T	1918661	G	T	1918661	3	4	116	1	0	0	0	0	1	0	0	0	17422	1357	47	5	834	5	WHSC1	4	1918661	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		1918661	189235615	6	2036											
MAML1	9794	broad.mit.edu	37	5	179193271	179193271	+	Silent	SNP	G	G	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr5:179193271G>T	ENST00000292599.3	+	2	1523	c.1260G>T	c.(1258-1260)ccG>ccT	p.P420P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	420					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCACCCCGGCACCAGCCC	0.652													4	104					0.00024832	0.00024832	1	1	0	T	179193271	G	T	179193271	2	4	116	1	0	0	0	0	0	0	0	1	9255	1103	39	5		5	MAML1	5	179193271	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		179193271	1721989	7	2037											
PPARD	5467	broad.mit.edu	37	6	35387985	35387985	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr6:35387985A>G	ENST00000311565.4	+	5	561	c.212A>G	c.(211-213)aAc>aGc	p.N71S	PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S|PPARD_ENST00000540939.1_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	71					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCAGCCTCAACATGGAGTGC	0.652													3	53					0	0	1	0	0	G	35387985	A	G	35387985	3	3	116	1	0	0	0	0	1	0	0	0	12343	43	2	4	235	4	PPARD	6	35387985	Missense_Mutation	SNP	A	TCGA-SR-A6MP-01A-11D-A35I-08		35387985	135727082	8	2038											
RP1L1	94137	broad.mit.edu	37	8	10467864	10467864	+	Silent	SNP	C	C	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467864C>A	ENST00000382483.3	-	4	3967	c.3744G>T	c.(3742-3744)ggG>ggT	p.G1248G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1248					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCAGATCCCCTGGGCTCT	0.552													23	43					4.26978e-12	4.66697e-12	1	1	0	A	10467864	C	A	10467864	2	1	116	1	0	0	0	0	0	0	0	1	13585	610	22	5		5	RP1L1	8	10467864	Silent	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08		10467864	135896158	9	2039			1	3		3	3	768	C		2.23366e-07
RP1L1	94137	broad.mit.edu	37	8	10467982	10467982	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467982C>T	ENST00000382483.3	-	4	3849	c.3626G>A	c.(3625-3627)gGc>gAc	p.G1209D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1209					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCCCTGAGCCTCCAGAGCC	0.607													15	30					0	0	1	0	0	T	10467982	C	T	10467982	3	4	116	1	0	0	0	0	1	0	0	0	13585	739	26	3	3580	3	RP1L1	8	10467982	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	118	10467982	135896040	10	2040			1	3		3	3	768	C		2.23366e-07
RP1L1	94137	broad.mit.edu	37	8	10468631	10468631	+	Missense_Mutation	SNP	C	C	T	rs144078596	by1000genomes	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10468631C>T	ENST00000382483.3	-	4	3200	c.2977G>A	c.(2977-2979)Gac>Aac	p.D993N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	993					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCAGGGTCCACCTCGGGG	0.642													23	62					0	0	1	0	0	T	10468631	C	T	10468631	3	4	116	1	0	0	0	0	1	0	0	0	13585	855	30	3	4229	3	RP1L1	8	10468631	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	649	10468631	135895391	11	2041			1	3		3	3	768	C		2.23366e-07
SCRIB	23513	broad.mit.edu	37	8	144886884	144886884	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144886884G>A	ENST00000356994.2	-	21	2869	c.2863C>T	c.(2863-2865)Cct>Tct	p.P955S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P955S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCTGGGAGGAAGAGGGCCC	0.697													11	10					0	0	1	0	0	A	144886884	G	A	144886884	3	1	116	1	0	0	0	0	1	0	0	0	13991	1174	41	3	2172	3	SCRIB	8	144886884	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	134418253	144886884	1477138	12	2042			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144888620	144888620	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144888620G>C	ENST00000356994.2	-	18	2309	c.2303C>G	c.(2302-2304)cCt>cGt	p.P768R	SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000320476.3_Missense_Mutation_p.P768R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	768	Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGGGCCGCAGGGCCTTCCTC	0.657													6	7					0	0	1	0	0	C	144888620	G	C	144888620	3	2	116	1	0	0	0	0	1	0	0	0	13991	1000	35	5	2744	5	SCRIB	8	144888620	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	1736	144888620	1475402	13	2043			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144890795	144890795	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144890795G>A	ENST00000356994.2	-	15	2105	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	700	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.S700F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAGGGCGCAGAAACCACGGC	0.652													25	21					0	0	1	0	0	A	144890795	G	A	144890795	3	1	116	1	0	0	0	0	1	0	0	0	13991	942	33	3	2960	3	SCRIB	8	144890795	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	2175	144890795	1473227	14	2044			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144891006	144891006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891006G>A	ENST00000356994.2	-	15	1894	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.Q630*	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	630	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCATGCCCTGCAGCAGAGCC	0.667													53	85					0	0	1	0	0	A	144891006	G	A	144891006	4	1	116	1	0	0	0	0	0	1	0	0	13991	1328	46	3	3171	3	SCRIB	8	144891006	Nonsense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	211	144891006	1473016	15	2045			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144891186	144891186	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891186G>A	ENST00000356994.2	-	15	1714	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000320476.3_Missense_Mutation_p.H570Y	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	570	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCGAAATGCACCGTGGGC	0.657													33	31					0	0	1	0	0	A	144891186	G	A	144891186	3	1	116	1	0	0	0	0	1	0	0	0	13991	1319	46	3	3351	3	SCRIB	8	144891186	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	180	144891186	1472836	16	2046			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144892898	144892898	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144892898G>A	ENST00000356994.2	-	12	1368	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000320476.3_Silent_p.P454P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	454	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCACCTATGGGGGCCTCCA	0.662													58	65					0	0	1	0	0	A	144892898	G	A	144892898	2	1	116	1	0	0	0	0	0	0	0	1	13991	1335	47	3		3	SCRIB	8	144892898	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	1712	144892898	1471124	17	2047			2	4	134418253	7	7	8648	G		2.534836e-16
SCRIB	23513	broad.mit.edu	37	8	144895531	144895531	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144895531G>C	ENST00000356994.2	-	6	523	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L173V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	173	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTTGACCAGAAATGACAGG	0.642													29	55					0	0	1	0	0	C	144895531	G	C	144895531	3	2	116	1	0	0	0	0	1	0	0	0	13991	933	33	5	4578	5	SCRIB	8	144895531	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	2633	144895531	1468491	18	2048			2	4	134418253	7	7	8648	G		2.534836e-16
NUP98	4928	broad.mit.edu	37	11	3723762	3723762	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr11:3723762T>C	ENST00000324932.7	-	23	3863	c.3443A>G	c.(3442-3444)gAa>gGa	p.E1148G	NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G|NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1165					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)		ATTTTCTAGTTCATGAGAGCC	0.458			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								7	82					0	0	1	0	0	C	3723762	T	C	3723762	3	2	116	1	0	0	0	0	1	0	0	0	10821	1783	62	4	2003	4	NUP98	11	3723762	Missense_Mutation	SNP	T	TCGA-SR-A6MP-01A-11D-A35I-08		3723762	131282754	19	2049											
LEPREL2	10536	broad.mit.edu	37	12	6948498	6948500	+	RNA	DEL	AGG	AGG	-			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr12:6948498_6948500delAGG	ENST00000251761.8	+	0	2117_2119				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CAGGAGTCACaggaggaggagga	0.606													2	4	---	---	---	---						-	6948500	AGG	-	6948498	6	5	116	0	1	1	0	1	0	0	0	0	8770	188	7	0		0	LEPREL2	12	6948498	RNA	DEL	AGG	TCGA-SR-A6MP-01A-11D-A35I-08		6948498	126903397	20	2050											
AKAP13	11214	broad.mit.edu	37	15	86198964	86198964	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr15:86198964A>G	ENST00000394518.2	+	11	4786	c.4691A>G	c.(4690-4692)cAc>cGc	p.H1564R	AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1564					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCGGAGGCACAGCTGGGGG	0.562													28	31					0	0	1	0	0	G	86198964	A	G	86198964	3	3	116	1	0	0	0	0	1	0	0	0	446	159	6	4	4729	4	AKAP13	15	86198964	Missense_Mutation	SNP	A	TCGA-SR-A6MP-01A-11D-A35I-08		86198964	16332428	21	2051											
ZKSCAN2	342357	broad.mit.edu	37	16	25264280	25264280	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr16:25264280G>C	ENST00000328086.7	-	3	1468	c.665C>G	c.(664-666)cCt>cGt	p.P222R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGACCCAGCAGGAAGCCGTGT	0.493													4	157					0	0	1	0	0	C	25264280	G	C	25264280	3	2	116	1	0	0	0	0	1	0	0	0	17745	1000	35	5	2258	5	ZKSCAN2	16	25264280	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		25264280	65090473	22	2052											
TCAP	8557	broad.mit.edu	37	17	37822068	37822068	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822068G>A	ENST00000309889.2	+	2	1383	c.210G>A	c.(208-210)cgG>cgA	p.R70R	TCAP_ENST00000578283.1_Intron			O15273	TELT_HUMAN	titin-cap	70			R -> W (in CMD1N).		adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGATGCGGATGGGCATCC	0.662													8	6					0	0	1	0	0	A	37822068	G	A	37822068	2	1	116	1	0	0	0	0	0	0	0	1	15726	1161	41	3		3	TCAP	17	37822068	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		37822068	43373142	23	2053			3	5		4	3	164	N	G	1.004264e-08
TCAP	8557	broad.mit.edu	37	17	37822170	37822170	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822170G>A	ENST00000309889.2	+	2	1485	c.312G>A	c.(310-312)gaG>gaA	p.E104E	TCAP_ENST00000578283.1_Silent_p.E80E			O15273	TELT_HUMAN	titin-cap	104					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACCAAGGAGGAGCGTGAGG	0.662													5	19					0	0	1	0	0	A	37822170	G	A	37822170	2	1	116	1	0	0	0	0	0	0	0	1	15726	991	35	3		3	TCAP	17	37822170	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	102	37822170	43373040	24	2054	17	2	3	5		4	3	164	N	G	1.004264e-08
TCAP	8557	broad.mit.edu	37	17	37822179	37822179	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822179G>C	ENST00000309889.2	+	2	1494	c.321G>C	c.(319-321)gaG>gaC	p.E107D	TCAP_ENST00000578283.1_Missense_Mutation_p.E83D			O15273	TELT_HUMAN	titin-cap	107					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGAGCGTGAGGACACCCCCA	0.662													6	22					0	0	1	0	0	C	37822179	G	C	37822179	3	2	116	1	0	0	0	0	1	0	0	0	15726	991	35	5	327	5	TCAP	17	37822179	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	9	37822179	43373031	25	2055	17	2	3	5		4	3	164	N	G	1.004264e-08
TCAP	8557	broad.mit.edu	37	17	37822231	37822231	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822231G>A	ENST00000309889.2	+	2	1546	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	TCAP_ENST00000578283.1_Missense_Mutation_p.G101S			O15273	TELT_HUMAN	titin-cap	125					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCCTGGGTGGCCAGTGTGT	0.662													15	38					0	0	1	0	0	A	37822231	G	A	37822231	3	1	116	1	0	0	0	0	1	0	0	0	15726	1348	47	3	379	3	TCAP	17	37822231	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	52	37822231	43372979	26	2056			3	5		4	3	164	N	G	1.004264e-08
GOSR2	9570	broad.mit.edu	37	17	45012514	45012514	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:45012514G>A	ENST00000415811.2	+	5	511	c.456G>A	c.(454-456)agG>agA	p.R152R	GOSR2_ENST00000393456.2_Silent_p.R152R|RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000225567.4_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000576910.2_Intron	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	152					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATGGACTGAGGACCCAGAGAC	0.463													39	54					0	0	1	0	0	A	45012514	G	A	45012514	2	1	116	1	0	0	0	0	0	0	0	1	6617	1165	41	3		3	GOSR2	17	45012514	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	7190283	45012514	36182696	27	2057											
SOX9	6662	broad.mit.edu	37	17	70117789	70117789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:70117789G>A	ENST00000245479.2	+	1	629	c.257G>A	c.(256-258)tGg>tAg	p.W86*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	86					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GGCTACGACTGGACGCTGGTG	0.652													4	1					0	0	1	0	0	A	70117789	G	A	70117789	4	1	116	1	0	0	0	0	0	1	0	0	15012	1357	47	3	259	3	SOX9	17	70117789	Nonsense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	25105275	70117789	11077421	28	2058											
FLG	2312	broad.mit.edu	37	1	152277659	152277659	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr1:152277659C>T	ENST00000368799.1	-	3	9738	c.9703G>A	c.(9703-9705)Gct>Act	p.A3235T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3235	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGGAAGCAGACCCAGAC	0.592									Ichthyosis				12	210					0	0	1	0	0	T	152277659	C	T	152277659	3	4	117	1	0	0	0	0	1	0	0	0	5955	710	25	3	2486	3	FLG	1	152277659	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		152277659	96972962	1	2059											
MSH6	2956	broad.mit.edu	37	2	48032102	48032102	+	Silent	SNP	G	G	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:48032102G>T	ENST00000234420.4	+	6	3644	c.3492G>T	c.(3490-3492)gtG>gtT	p.V1164V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.V1034V|MSH6_ENST00000538136.1_Silent_p.V862V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1164					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGCTGAAGTGTGCAGGCTCA	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				3	49					1	1	1	1	0	T	48032102	G	T	48032102	2	4	117	1	0	0	0	0	0	0	0	1	9923	1364	48	5		5	MSH6	2	48032102	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		48032102	195167271	2	2060											
TTN	7273	broad.mit.edu	37	2	179611367	179611367	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:179611367T>A	ENST00000360870.5	-	46	15982	c.15760A>T	c.(15760-15762)Atg>Ttg	p.M5254L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8773	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATGACACATGTACTCTCCC	0.418													4	55					0	0	1	0	0	A	179611367	T	A	179611367	3	1	117	1	0	0	0	0	1	0	0	0	16797	1464	51	5	94537	5	TTN	2	179611367	Missense_Mutation	SNP	T	TCGA-SR-A6MQ-01A-11D-A35I-08	131579265	179611367	63588006	3	2061											
TRPM8	79054	broad.mit.edu	37	2	234891753	234891753	+	Silent	SNP	C	C	T	rs144605883		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:234891753C>T	ENST00000324695.4	+	20	2686	c.2646C>T	c.(2644-2646)ggC>ggT	p.G882G	TRPM8_ENST00000433712.2_Silent_p.G460G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	882						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGCCTTTGGCGTGGCCAGGC	0.592													4	160					0	0	1	0	0	T	234891753	C	T	234891753	2	4	117	1	0	0	0	0	0	0	0	1	16653	755	27	1		1	TRPM8	2	234891753	Silent	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08	55280386	234891753	8307620	4	2062											
SLC39A8	64116	broad.mit.edu	37	4	103228643	103228643	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr4:103228643G>C	ENST00000424970.2	-	4	817	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V|SLC39A8_ENST00000394833.2_Missense_Mutation_p.L168V	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	168						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CCAATAGCCAGCCCCACAAAA	0.363													5	132					0	0	1	0	0	C	103228643	G	C	103228643	3	2	117	1	0	0	0	0	1	0	0	0	14679	962	34	5	981	5	SLC39A8	4	103228643	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		103228643	87925633	5	2063											
PKHD1	5314	broad.mit.edu	37	6	51944754	51944754	+	Missense_Mutation	SNP	C	C	T	rs149841071		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:51944754C>T	ENST00000371117.3	-	5	609	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	112					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTCCCCCGAAGTATGCT	0.463													4	117					0	0	1	0	0	T	51944754	C	T	51944754	3	4	117	1	0	0	0	0	1	0	0	0	12019	652	23	2	12181	2	PKHD1	6	51944754	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		51944754	119170313	6	2064											
COL12A1	1303	broad.mit.edu	37	6	75841698	75841698	+	Silent	SNP	G	G	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:75841698G>A	ENST00000322507.8	-	35	6204	c.5895C>T	c.(5893-5895)cgC>cgT	p.R1965R	COL12A1_ENST00000483888.2_Silent_p.R1965R|COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000416123.2_Silent_p.R1965R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1965	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATACACAACGCGATATTGCA	0.463													23	25					0	0	1	0	0	A	75841698	G	A	75841698	2	1	117	1	0	0	0	0	0	0	0	1	3692	1074	38	1		1	COL12A1	6	75841698	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08	23896944	75841698	95273369	7	2065											
TOP1MT	116447	broad.mit.edu	37	8	144407615	144407615	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr8:144407615A>G	ENST00000523676.1	-	6	683	c.278T>C	c.(277-279)aTt>aCt	p.I93T	TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I191T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	191					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGGCGGCTCAATCTTGAAGTT	0.473													3	50					0	0	1	0	0	G	144407615	A	G	144407615	3	3	117	1	0	0	0	0	1	0	0	0	16425	101	4	4	1273	4	TOP1MT	8	144407615	Missense_Mutation	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08		144407615	1956407	8	2066											
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488													4	120					0	0	1	0	0	A	77354692	G	A	77354692	3	1	117	1	0	0	0	0	1	0	0	0	16651	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		77354692	63858739	9	2067											
TDRD7	23424	broad.mit.edu	37	9	100258051	100258051	+	Silent	SNP	C	C	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:100258051C>T	ENST00000355295.4	+	17	3478	c.3183C>T	c.(3181-3183)aaC>aaT	p.N1061N	TDRD7_ENST00000540902.1_Silent_p.N381N|TDRD7_ENST00000422139.2_Silent_p.N987N	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1061	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAATGCTAACCCTTGGGACC	0.463													7	65					0	0	1	0	0	T	100258051	C	T	100258051	2	4	117	1	0	0	0	0	0	0	0	1	15794	506	18	3		3	TDRD7	9	100258051	Silent	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08	22903359	100258051	40955380	10	2068											
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			11	24					0	0	1	0	0	G	534286	C	G	534286	3	3	117	1	0	0	0	0	1	0	0	0	7389	652	23	5	615	5	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		534286	134472230	11	2069											
PATL1	219988	broad.mit.edu	37	11	59418227	59418227	+	Splice_Site	DEL	T	T	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:59418227delT	ENST00000300146.9	-	13	1668	c.1584_splice	c.e13+1	p.K528_splice		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	528	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTAAACTTACTTTCTCAATTA	0.313													2	4	---	---	---	---						-	59418227	T	-	59418227	8	5	117	1	0	1	0	1	0	0	1	0	11522	1623	56	0	756	0	PATL1	11	59418227	Splice_Site	DEL	T	TCGA-SR-A6MQ-01A-11D-A35I-08	58883941	59418227	75588289	12	2070											
APAF1	317	broad.mit.edu	37	12	99117515	99117515	+	Silent	SNP	A	A	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr12:99117515A>G	ENST00000357310.1	+	23	3751	c.3174A>G	c.(3172-3174)tcA>tcG	p.S1058S	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.S1047S|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000550527.1_Silent_p.S1090S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Silent_p.S1101S|APAF1_ENST00000547045.1_Silent_p.S1058S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1101					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCAAGTTTTCATCTACCTCTG	0.353													7	110					0	0	1	0	0	G	99117515	A	G	99117515	2	3	117	1	0	0	0	0	0	0	0	1	751	204	8	4		4	APAF1	12	99117515	Silent	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08		99117515	34734380	13	2071											
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr14:94756360C>A	ENST00000554723.1	-	2	1109	c.691G>T	c.(691-693)Gtg>Ttg	p.V231L	SERPINA10_ENST00000393096.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418													4	80					0.150653	0.163208	1	1	0	A	94756360	C	A	94756360	3	1	117	1	0	0	0	0	1	0	0	0	14141	536	19	5	779	5	SERPINA10	14	94756360	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		94756360	12593180	14	2072											
DENND4A	10260	broad.mit.edu	37	15	66021931	66021931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr15:66021931delT	ENST00000443035.3	-	10	1467	c.1252delA	c.(1252-1254)ttfs	p.I418fs	DENND4A_ENST00000431932.2_Frame_Shift_Del_p.I418fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	418	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGATAAGAATTTTATGTTCT	0.403													2	4	---	---	---	---						-	66021931	T	-	66021931	7	5	117	1	0	1	0	1	0	0	0	0	4461	1493	52	0	4564	0	DENND4A	15	66021931	Frame_Shift_Del	DEL	T	TCGA-SR-A6MQ-01A-11D-A35I-08		66021931	36509461	15	2073											
ABCA8	10351	broad.mit.edu	37	17	66873753	66873753	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr17:66873753G>A	ENST00000269080.2	-	31	4123	c.3986C>T	c.(3985-3987)gCg>gTg	p.A1329V	ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1329V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGGCCACAGCGCGTTCTCCTG	0.597													4	77					0	0	1	0	0	A	66873753	G	A	66873753	3	1	117	1	0	0	0	0	1	0	0	0	38	1087	38	1	791	1	ABCA8	17	66873753	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		66873753	14321457	16	2074											
BSG	682	broad.mit.edu	37	19	577826	577826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr19:577826delG	ENST00000333511.3	+	2	190	c.120delG	c.(118-120)gtfs	p.V40fs	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	40					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGTGTGGAGCTGCACT	0.692													2	4	---	---	---	---						-	577826	G	-	577826	7	5	117	1	0	1	0	1	0	0	0	0	1531	1335	47	0	162	0	BSG	19	577826	Frame_Shift_Del	DEL	G	TCGA-SR-A6MQ-01A-11D-A35I-08		577826	58551157	17	2075											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	60					0	0	1	0	0	A	51076024	G	A	51076024	2	1	117	1	0	0	0	0	0	0	0	1	10774	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		51076024	104194536	18	2076											
MSN	4478	broad.mit.edu	37	X	64951750	64951750	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:64951750A>G	ENST00000360270.5	+	6	774	c.602A>G	c.(601-603)tAt>tGt	p.Y201C		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	201	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTGGAGATGTATGGTGTGAAC	0.493			T	ALK	ALCL								17	80					0	0	1	0	0	G	64951750	A	G	64951750	3	3	117	1	0	0	0	0	1	0	0	0	9933	449	16	4	624	4	MSN	23	64951750	Missense_Mutation	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08	13875726	64951750	90318810	19	2077											
NKAP	79576	broad.mit.edu	37	X	119059273	119059273	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:119059273G>T	ENST00000371410.3	-	9	1324	c.1158C>A	c.(1156-1158)aaC>aaA	p.N386K	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	386	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCTCTTCTTGGTTAAAGGATG	0.438													4	79					0.00024832	0.000307444	1	1	0	T	119059273	G	T	119059273	3	4	117	1	0	0	0	0	1	0	0	0	10486	1252	44	5	93	5	NKAP	23	119059273	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08	54107523	119059273	36211287	20	2078											
TTN	7273	broad.mit.edu	37	2	179594164	179594164	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr2:179594164C>A	ENST00000589042.1	-	64	18943	c.18719G>T	c.(18718-18720)cGa>cTa	p.R6240L	TTN_ENST00000591111.1_Missense_Mutation_p.R5923L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5923	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTGCTTCGAATTTCCCT	0.448													27	61					1.50538e-07	1.58065e-07	1	1	0	A	179594164	C	A	179594164	3	1	118	1	0	0	0	0	1	0	0	0	16797	884	31	5	86006	5	TTN	2	179594164	Missense_Mutation	SNP	C	TCGA-SR-A6MR-01A-11D-A35I-08		179594164	63605209	1	2079											
ST6GAL1	6480	broad.mit.edu	37	3	186793532	186793532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr3:186793532G>T	ENST00000169298.3	+	8	1836	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157*|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	388					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCACAGATGAGGACATCTA	0.507													7	46					0.0293803	0.0293803	1	1	0	T	186793532	G	T	186793532	4	4	118	1	0	0	0	0	0	1	0	0	15277	1291	45	5	1180	5	ST6GAL1	3	186793532	Nonsense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		186793532	11228898	2	2080											
TMEM120A	83862	broad.mit.edu	37	7	75618546	75618546	+	RNA	DEL	G	G	-			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr7:75618546delG	ENST00000493111.2	-	0	317				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GTACAATCTAGGGAAGGGGGT	0.647													2	4	---	---	---	---						-	75618546	G	-	75618546	6	5	118	0	1	1	0	1	0	0	0	0	16093	1015	35	0		0	TMEM120A	7	75618546	RNA	DEL	G	TCGA-SR-A6MR-01A-11D-A35I-08		75618546	83520117	3	2081											
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													4	137					0	0	1	0	0	A	9609296	G	A	9609296	3	1	118	1	0	0	0	0	1	0	0	0	16379	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		9609296	136754726	4	2082											
POLR3A	11128	broad.mit.edu	37	10	79769406	79769406	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:79769406T>C	ENST00000372371.3	-	14	1935	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	600					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACACTGAAGATCTGCTTTCCC	0.582													27	52					0	0	1	0	0	C	79769406	T	C	79769406	3	2	118	1	0	0	0	0	1	0	0	0	12276	1435	50	4	2446	4	POLR3A	10	79769406	Missense_Mutation	SNP	T	TCGA-SR-A6MR-01A-11D-A35I-08		79769406	55765341	5	2083											
SLIT1	6585	broad.mit.edu	37	10	98778790	98778790	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:98778790G>C	ENST00000266058.4	-	27	3066	c.2821C>G	c.(2821-2823)Cac>Gac	p.H941D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	941	EGF-like 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGTCGTTGTGGCAGGTGCCC	0.637													4	30					0	0	1	0	0	C	98778790	G	C	98778790	3	2	118	1	0	0	0	0	1	0	0	0	14793	1348	47	5	1827	5	SLIT1	10	98778790	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08	19009384	98778790	36755957	6	2084											
RPL27A	6157	broad.mit.edu	37	11	8705560	8705560	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:8705560C>A	ENST00000314138.6	+	3	478	c.75C>A	c.(73-75)caC>caA	p.H25Q	RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000530022.1_5'UTR	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGCAAGCACCGGAAGCACC	0.552													15	98					9.16793e-09	1.0133e-08	1	1	0	A	8705560	C	A	8705560	3	1	118	1	0	0	0	0	1	0	0	0	13628	506	18	5	85	5	RPL27A	11	8705560	Missense_Mutation	SNP	C	TCGA-SR-A6MR-01A-11D-A35I-08		8705560	126300956	7	2085											
H2AFX	3014	broad.mit.edu	37	11	118965944	118965944	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:118965944G>A	ENST00000530167.1	-	1	233	c.161C>T	c.(160-162)gCa>gTa	p.A54V		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	54					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTCCAGCACTGCCGCCAGGTA	0.701								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	74					0	0	1	0	0	A	118965944	G	A	118965944	3	1	118	1	0	0	0	0	1	0	0	0	6969	1319	46	3	274	3	H2AFX	11	118965944	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08	110260384	118965944	16040572	8	2086											
SPG11	80208	broad.mit.edu	37	15	44955823	44955823	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr15:44955823G>C	ENST00000261866.7	-	1	39	c.23C>G	c.(22-24)gCg>gGg	p.A8G	SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAGCACTCGCGACCCCTTC	0.687													6	12					0	0	1	0	0	C	44955823	G	C	44955823	3	2	118	1	0	0	0	0	1	0	0	0	15097	1087	38	5	7468	5	SPG11	15	44955823	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		44955823	57575569	9	2087											
GPS1	2873	broad.mit.edu	37	17	80011174	80011174	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr17:80011174G>A	ENST00000392358.2	+	2	527	c.178G>A	c.(178-180)Gac>Aac	p.D60N	GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|GPS1_ENST00000355130.2_Missense_Mutation_p.D60N|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|GPS1_ENST00000306823.6_Missense_Mutation_p.D20N	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	20					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CATGCAGATCGACGTGGACCC	0.662													6	14					0	0	1	0	0	A	80011174	G	A	80011174	3	1	118	1	0	0	0	0	1	0	0	0	6773	1058	37	2	221	2	GPS1	17	80011174	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		80011174	1184036	10	2088											
DMWD	1762	broad.mit.edu	37	19	46290019	46290019	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr19:46290019G>C	ENST00000270223.6	-	3	780	c.735C>G	c.(733-735)caC>caG	p.H245Q	DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	245					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGCGCAGGGGTGGCTGACGT	0.627													10	61					0	0	1	0	0	C	46290019	G	C	46290019	3	2	118	1	0	0	0	0	1	0	0	0	4621	1252	44	5	1301	5	DMWD	19	46290019	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		46290019	12838964	11	2089											
TSC22D2	9819	broad.mit.edu	37	3	150128088	150128088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr3:150128088delG	ENST00000361875.2	+	1	1967	c.951delG	c.(949-951)gcfs	p.A317fs	TSC22D2_ENST00000361136.2_Frame_Shift_Del_p.A317fs	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	317							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGGGAGCGGGGCCCGGGG	0.756													2	4	---	---	---	---						-	150128088	G	-	150128088	7	5	119	1	0	1	0	1	0	0	0	0	16669	1103	39	0	953	0	TSC22D2	3	150128088	Frame_Shift_Del	DEL	G	TCGA-SR-A6MS-01A-11D-A35I-08		150128088	47894342	1	2090											
CLCN3	0	broad.mit.edu	37	4	170618774	170618774	+	Silent	SNP	C	C	G			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr4:170618774C>G	ENST00000513761.1	+	9	2011	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V	CLCN3_ENST00000504131.2_Silent_p.V467V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000360642.3_Silent_p.V457V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	484					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTAAAATTGTCGATGACATTC	0.403													7	103					0	0	1	0	0	G	170618774	C	G	170618774	2	3	119	1	0	0	0	0	0	0	0	1	3487	871	31	5		5	CLCN3	4	170618774	Silent	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08		170618774	20535502	2	2091											
PCDHB4	0	broad.mit.edu	37	5	140502423	140502423	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr5:140502423C>A	ENST00000194152.1	+	1	843	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		281	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGCTTATTCCAAGCATCAG	0.368													4	122					0.0215528	0.0215528	1	1	0	A	140502423	C	A	140502423	3	1	119	1	0	0	0	0	1	0	0	0	11591	854	30	5	845	5	PCDHB4	5	140502423	Missense_Mutation	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08		140502423	40412837	3	2092											
POPDC3	64208	broad.mit.edu	37	6	105609351	105609351	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:105609351G>A	ENST00000254765.3	-	2	712	c.434C>T	c.(433-435)gCc>gTc	p.A145V	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	145						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCCCTGCATGGCATAACAGTG	0.443													33	66					0	0	1	0	0	A	105609351	G	A	105609351	3	1	119	1	0	0	0	0	1	0	0	0	12304	1203	42	3	453	3	POPDC3	6	105609351	Missense_Mutation	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		105609351	65505716	4	2093											
RFX6	222546	broad.mit.edu	37	6	117203568	117203568	+	Silent	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:117203568G>A	ENST00000332958.2	+	4	559	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	181			R -> Q (in MIRIS; abolishes DNA-binding).		glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAACAAGGCGGCTTGGAACAA	0.393													4	65					0	0	1	0	0	A	117203568	G	A	117203568	2	1	119	1	0	0	0	0	0	0	0	1	13319	1190	42	3		3	RFX6	6	117203568	Silent	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08	11594217	117203568	53911499	5	2094											
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													2	4	---	---	---	---						-	114271582	CAG	-	114271580	8	5	119	1	0	1	0	1	0	0	1	0	6061	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-SR-A6MS-01A-11D-A35I-08		114271580	44867083	6	2095											
C9orf3	84909	broad.mit.edu	37	9	97717559	97717559	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr9:97717559A>G	ENST00000375315.2	+	7	1762	c.1762A>G	c.(1762-1764)Aag>Gag	p.K588E	C9orf3_ENST00000297979.5_Missense_Mutation_p.K489E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	588					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCATTATTTAAAGGTAAGCAC	0.423													24	30					0	0	1	0	0	G	97717559	A	G	97717559	3	3	119	1	0	0	0	0	1	0	0	0	2495	15	1	4	1483	4	C9orf3	9	97717559	Missense_Mutation	SNP	A	TCGA-SR-A6MS-01A-11D-A35I-08		97717559	43495872	7	2096											
INTS4	92105	broad.mit.edu	37	11	77702156	77702156	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr11:77702156T>C	ENST00000534064.1	-	2	278	c.244A>G	c.(244-246)Aag>Gag	p.K82E	INTS4_ENST00000529807.1_Missense_Mutation_p.K82E|INTS4_ENST00000527522.1_Missense_Mutation_p.K82E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	82					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTTACCTTGTAATAATGT	0.418													3	60					0	0	1	0	0	C	77702156	T	C	77702156	3	2	119	1	0	0	0	0	1	0	0	0	7824	1821	63	4	2735	4	INTS4	11	77702156	Missense_Mutation	SNP	T	TCGA-SR-A6MS-01A-11D-A35I-08		77702156	57304360	8	2097											
MYBBP1A	10514	broad.mit.edu	37	17	4453557	4453557	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:4453557G>A	ENST00000254718.4	-	9	1421	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	372	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACTAGCACGGCCAGCTGCCG	0.622													4	220					0	0	1	0	0	A	4453557	G	A	4453557	3	1	119	1	0	0	0	0	1	0	0	0	10056	1203	42	3	2983	3	MYBBP1A	17	4453557	Missense_Mutation	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		4453557	76741653	9	2098											
TTLL6	284076	broad.mit.edu	37	17	46868938	46868938	+	Silent	SNP	C	C	T			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:46868938C>T	ENST00000393382.3	-	9	1167	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	TTLL6_ENST00000433608.2_Silent_p.L35L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	294	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTGGTCCTCCAAGTATGCAC	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	42					0	0	1	0	0	T	46868938	C	T	46868938	2	4	119	1	0	0	0	0	0	0	0	1	16793	593	21	3		3	TTLL6	17	46868938	Silent	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08	42415381	46868938	34326272	10	2099											
FBF1	85302	broad.mit.edu	37	17	73909901	73909901	+	Splice_Site	SNP	C	C	T			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:73909901C>T	ENST00000586717.1	-	27	3358		c.e27-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCAGATGCTCCTGTCCCCGTT	0.677													6	7					0	0	1	0	0	T	73909901	C	T	73909901	5	4	119	1	0	0	0	0	0	0	1	0	5728	695	24	3	329	3	FBF1	17	73909901	Splice_Site	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08	27040963	73909901	7285309	11	2100											
RINL	126432	broad.mit.edu	37	19	39359959	39359959	+	Silent	SNP	G	G	C			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr19:39359959G>C	ENST00000340740.3	-	11	1611	c.1224C>G	c.(1222-1224)tcC>tcG	p.S408S	RINL_ENST00000591812.1_Silent_p.S522S|RINL_ENST00000598904.1_Silent_p.S408S	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	408							GTPase activator activity	p.S408S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGCGGGCCTCGGAGCTGAGCC	0.657													41	70					0	0	1	0	0	C	39359959	G	C	39359959	2	2	119	1	0	0	0	0	0	0	0	1	13427	1103	39	5		5	RINL	19	39359959	Silent	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		39359959	19769024	12	2101											
CYP4Z1	199974	broad.mit.edu	37	1	47548102	47548102	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:47548102C>A	ENST00000334194.3	+	4	464	c.461C>A	c.(460-462)aCc>aAc	p.T154N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	154						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATATTCATCACCATGATGTCT	0.483													3	20					0.00024832	0.000260145	1	1	0	A	47548102	C	A	47548102	3	1	120	1	0	0	0	0	1	0	0	0	4217	507	18	5	475	5	CYP4Z1	1	47548102	Missense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		47548102	201702519	1	2102											
KCNT2	343450	broad.mit.edu	37	1	196398825	196398825	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:196398825T>C	ENST00000367433.5	-	9	802	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	234						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGCAGAAATAAAGGGAGTC	0.388													11	12					0	0	1	0	0	C	196398825	T	C	196398825	3	2	120	1	0	0	0	0	1	0	0	0	8136	1406	49	4	2786	4	KCNT2	1	196398825	Missense_Mutation	SNP	T	TCGA-SR-A6MT-01A-11D-A35I-08	148850723	196398825	52851796	2	2103											
TCF23	150921	broad.mit.edu	37	2	27372135	27372135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr2:27372135delG	ENST00000296096.5	+	1	264	c.134delG	c.(133-135)tgfs	p.W45fs	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	45					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACCCGTGGGAAGAAAGA	0.637													2	4	---	---	---	---						-	27372135	G	-	27372135	7	5	120	1	0	1	0	1	0	0	0	0	15752	1357	47	0	136	0	TCF23	2	27372135	Frame_Shift_Del	DEL	G	TCGA-SR-A6MT-01A-11D-A35I-08		27372135	215827238	3	2104											
FXR1	0	broad.mit.edu	37	3	180630496	180630496	+	Missense_Mutation	SNP	T	T	G			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr3:180630496T>G	ENST00000357559.4	+	1	407	c.23T>G	c.(22-24)gTt>gGt	p.V8G	FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491674.1_Missense_Mutation_p.V8G|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000305586.7_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	8					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)			ACGGTGGAGGTTCGCGGCTCT	0.592											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	65					0	0	1	0	0	G	180630496	T	G	180630496	3	3	120	1	0	0	0	0	1	0	0	0	6150	1725	60	5	25	5	FXR1	3	180630496	Missense_Mutation	SNP	T	TCGA-SR-A6MT-01A-11D-A35I-08		180630496	17391934	4	2105											
SEPT8	23176	broad.mit.edu	37	5	132099470	132099470	+	Silent	SNP	G	G	C			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr5:132099470G>C	ENST00000296873.7	-	4	745	c.462C>G	c.(460-462)ctC>ctG	p.L154L	SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000378706.1_Silent_p.L154L|SEPT8_ENST00000378719.2_Silent_p.L154L|SEPT8_ENST00000378721.4_Silent_p.L152L|SEPT8_ENST00000458488.2_Silent_p.L154L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	154					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGAAGTAGAGGCAAACGT	0.512													7	137					0	0	1	0	0	C	132099470	G	C	132099470	2	2	120	1	0	0	0	0	0	0	0	1	14124	929	33	5		5	SEPT8	5	132099470	Silent	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		132099470	48815790	5	2106											
SOX4	6659	broad.mit.edu	37	6	21595016	21595016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr6:21595016delT	ENST00000244745.1	+	1	1045	c.251delT	c.(250-252)agfs	p.M84fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.M84fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	84					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TCGCCCGACATGCACAACGCC	0.607													2	4	---	---	---	---						-	21595016	T	-	21595016	7	5	120	1	0	1	0	1	0	0	0	0	15007	1464	51	0	253	0	SOX4	6	21595016	Frame_Shift_Del	DEL	T	TCGA-SR-A6MT-01A-11D-A35I-08		21595016	149520051	6	2107											
RSBN1L	222194	broad.mit.edu	37	7	77326163	77326163	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:77326163G>A	ENST00000334955.7	+	1	404	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	126						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGGTGCCGCGCAAACTGCTG	0.677													3	27					0	0	1	0	0	A	77326163	G	A	77326163	3	1	120	1	0	0	0	0	1	0	0	0	13749	1087	38	1	379	1	RSBN1L	7	77326163	Missense_Mutation	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		77326163	81812500	7	2108											
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													3	58					0	0	1	0	0	G	114269973	A	G	114269973	2	3	120	1	0	0	0	0	0	0	0	1	6061	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-SR-A6MT-01A-11D-A35I-08	36943810	114269973	44868690	8	2109											
DAK	26007	broad.mit.edu	37	11	61110893	61110893	+	Silent	SNP	C	C	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr11:61110893C>A	ENST00000394900.3	+	11	1174	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	315	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TTTCTCTCACCCTCCTGCTGG	0.592													5	54					1.06961e-07	1.17657e-07	1	1	0	A	61110893	C	A	61110893	2	1	120	1	0	0	0	0	0	0	0	1	4252	610	22	5		5	DAK	11	61110893	Silent	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		61110893	73895623	9	2110											
HAP1	9001	broad.mit.edu	37	17	39884515	39884515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:39884515G>A	ENST00000393939.2	-	7	1147	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q380*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	380	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTGCTGCTGCCGTTCATAG	0.657													4	42					0	0	1	0	0	A	39884515	G	A	39884515	4	1	120	1	0	0	0	0	0	1	0	0	6994	1328	46	3	741	3	HAP1	17	39884515	Nonsense_Mutation	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		39884515	41310695	10	2111											
KCNH6	81033	broad.mit.edu	37	17	61619703	61619703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:61619703C>T	ENST00000583023.1	+	9	2067	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	686					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCACAAGATCCAGCGGGCAGA	0.592													16	23					0	0	1	0	0	T	61619703	C	T	61619703	4	4	120	1	0	0	0	0	0	1	0	0	8080	595	21	3	2090	3	KCNH6	17	61619703	Nonsense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08	21735188	61619703	19575507	11	2112											
PSG5	5673	broad.mit.edu	37	19	43690622	43690622	+	Translation_Start_Site	SNP	C	C	T	rs138160369	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr19:43690622C>T	ENST00000404580.1	-	0	24				PSG5_ENST00000599812.1_De_novo_Start_OutOfFrame|PSG5_ENST00000407568.1_De_novo_Start_OutOfFrame|PSG5_ENST00000407356.1_De_novo_Start_OutOfFrame|PSG5_ENST00000366175.3_De_novo_Start_OutOfFrame|PSG5_ENST00000342951.6_De_novo_Start_OutOfFrame|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCCTGAGCACGGCTGTAGGC	0.627													7	35					0	0	1	0	0	T	43690622	C	T	43690622	1	4	120	1	0	0	0	0	0	0	0	0	12707	551	19	1		1	PSG5	19	43690622	Translation_Start_Site	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		43690622	15438361	12	2113											
HPS4	89781	broad.mit.edu	37	22	26854435	26854435	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr22:26854435C>T	ENST00000398145.2	-	12	2438	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	608					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGAATGCGGTCGTAATGTGTG	0.577									Hermansky-Pudlak syndrome				4	43					0	0	1	0	0	T	26854435	C	T	26854435	3	4	120	1	0	0	0	0	1	0	0	0	7382	884	31	2	316	2	HPS4	22	26854435	Missense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		26854435	24450131	13	2114											
AHCTF1	25909	broad.mit.edu	37	1	247067288	247067288	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr1:247067288T>A	ENST00000366508.1	-	7	1170	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I	AHCTF1_ENST00000391829.2_Missense_Mutation_p.N310I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	310	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACACTTTCTATTACCAAAGGC	0.328													8	27					0	0	1	0	0	A	247067288	T	A	247067288	3	1	121	1	0	0	0	0	1	0	0	0	405	1493	52	5	5991	5	AHCTF1	1	247067288	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08		247067288	2183333	1	2115											
HECW2	57520	broad.mit.edu	37	2	197184340	197184340	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr2:197184340T>C	ENST00000260983.2	-	9	1456	c.1274A>G	c.(1273-1275)cAc>cGc	p.H425R	HECW2_ENST00000409111.1_Missense_Mutation_p.H69R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	425					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.H425P(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGCCATTGTGTTCGATAGC	0.507													9	59					0	0	1	0	0	C	197184340	T	C	197184340	3	2	121	1	0	0	0	0	1	0	0	0	7084	1696	59	4	3528	4	HECW2	2	197184340	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08		197184340	46015033	2	2116											
NSUN7	79730	broad.mit.edu	37	4	40792724	40792724	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr4:40792724T>C	ENST00000381782.2	+	8	1637	c.1142T>C	c.(1141-1143)gTt>gCt	p.V381A	NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GGACTGGGTGTTAGTAATCCA	0.269													3	70					0	0	1	0	0	C	40792724	T	C	40792724	3	2	121	1	0	0	0	0	1	0	0	0	10731	1725	60	4	1168	4	NSUN7	4	40792724	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08		40792724	150361552	3	2117											
TCF19	6941	broad.mit.edu	37	6	31129467	31129467	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:31129467G>A	ENST00000376257.3	+	3	1236	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	161					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCTCCACAGCGGCCTCTCAGC	0.647													6	38					0	0	1	0	0	A	31129467	G	A	31129467	3	1	121	1	0	0	0	0	1	0	0	0	15749	1116	39	2	488	2	TCF19	6	31129467	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		31129467	139985600	4	2118											
NOTCH4	4855	broad.mit.edu	37	6	32163789	32163789	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:32163789A>G	ENST00000375023.3	-	30	5575	c.5437T>C	c.(5437-5439)Tgg>Cgg	p.W1813R	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1813					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCAGATCCCAGTGGTTACGT	0.716													7	9					0	0	1	0	0	G	32163789	A	G	32163789	3	3	121	1	0	0	0	0	1	0	0	0	10598	188	7	4	578	4	NOTCH4	6	32163789	Missense_Mutation	SNP	A	TCGA-SR-A6MU-01A-11D-A35I-08	1034322	32163789	138951278	5	2119											
C6orf58	352999	broad.mit.edu	37	6	127911362	127911362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:127911362C>T	ENST00000329722.7	+	5	817	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	269						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CATGCCACCACGAATTCTTCT	0.403													9	117					0	0	1	0	0	T	127911362	C	T	127911362	4	4	121	1	0	0	0	0	0	1	0	0	2382	528	19	1	823	1	C6orf58	6	127911362	Nonsense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08	95747573	127911362	43203705	6	2120											
ZEB1	6935	broad.mit.edu	37	10	31791358	31791358	+	Silent	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr10:31791358C>T	ENST00000446923.2	+	4	745	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000320985.10_Silent_p.D134D|ZEB1_ENST00000560721.2_Silent_p.D114D	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	134					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AACAACAAGACACTGCTGTCA	0.408													6	40					0	0	1	0	0	T	31791358	C	T	31791358	2	4	121	1	0	0	0	0	0	0	0	1	17681	477	17	3		3	ZEB1	10	31791358	Silent	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		31791358	103743389	7	2121											
FLRT2	23768	broad.mit.edu	37	14	86089608	86089608	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr14:86089608C>T	ENST00000330753.4	+	2	2517	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCGGGGCCGGCGGAAAGATGA	0.493													9	74					0	0	1	0	0	T	86089608	C	T	86089608	3	4	121	1	0	0	0	0	1	0	0	0	5972	759	27	1	1752	1	FLRT2	14	86089608	Missense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		86089608	21259932	8	2122											
ATP6V0C	527	broad.mit.edu	37	16	2569716	2569716	+	Silent	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:2569716C>T	ENST00000330398.4	+	3	672	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Silent_p.L103L|ATP6V0C_ENST00000564973.1_Silent_p.L103L|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	146					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TCTACGGTCTCATCGTCGCCC	0.597													4	56					0	0	1	0	0	T	2569716	C	T	2569716	2	4	121	1	0	0	0	0	0	0	0	1	1170	813	29	3		3	ATP6V0C	16	2569716	Silent	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		2569716	87785037	9	2123											
HYDIN	54768	broad.mit.edu	37	16	71103196	71103196	+	Missense_Mutation	SNP	G	G	A	rs140028548		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:71103196G>A	ENST00000393567.2	-	14	2098	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	650										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCCTGGGGGCGAATGGTGCCA	0.488													6	35					0	0	1	0	0	A	71103196	G	A	71103196	3	1	121	1	0	0	0	0	1	0	0	0	7511	1058	37	2	13718	2	HYDIN	16	71103196	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08	68533480	71103196	19251557	10	2124											
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468													3	55					0	0	1	0	0	A	66979978	G	A	66979978	2	1	121	1	0	0	0	0	0	0	0	1	39	1335	47	3		3	ABCA9	17	66979978	Silent	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		66979978	14215232	11	2125											
FAM187B	148109	broad.mit.edu	37	19	35718939	35718939	+	Silent	SNP	G	G	A	rs13382163		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:35718939G>A	ENST00000324675.3	-	1	693	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	215						integral to membrane		p.Y215Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CAAAAATGACGTAATCCACCC	0.537													3	22					0	0	1	0	0	A	35718939	G	A	35718939	2	1	121	1	0	0	0	0	0	0	0	1	5544	1140	40	1		1	FAM187B	19	35718939	Silent	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		35718939	23410044	12	2126											
MARK4	57787	broad.mit.edu	37	19	45790742	45790742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:45790742delC	ENST00000300843.4	+	13	1611	c.1314delC	c.(1312-1314)agfs	p.S438fs	MARK4_ENST00000262891.4_Frame_Shift_Del_p.S438fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	438					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAACGCAGCCCGACGAGCA	0.701													2	4	---	---	---	---						-	45790742	C	-	45790742	7	5	121	1	0	1	0	1	0	0	0	0	9365	738	26	0	1364	0	MARK4	19	45790742	Frame_Shift_Del	DEL	C	TCGA-SR-A6MU-01A-11D-A35I-08	10071803	45790742	13338241	13	2127											
CPXM1	56265	broad.mit.edu	37	20	2775281	2775281	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr20:2775281C>T	ENST00000380605.2	-	13	1929	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	622					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AATGCCCATGCGCACCTGtgt	0.552													3	30					0	0	1	0	0	T	2775281	C	T	2775281	3	4	121	1	0	0	0	0	1	0	0	0	3860	768	27	1	347	1	CPXM1	20	2775281	Missense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		2775281	60250239	14	2128											
GRIK1	2897	broad.mit.edu	37	21	30927396	30927396	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr21:30927396G>A	ENST00000399914.1	-	15	3060	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W	GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000399907.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	862					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R847W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTATTCTTCCGTGATTTGTAT	0.393													5	30					0	0	1	0	0	A	30927396	G	A	30927396	3	1	121	1	0	0	0	0	1	0	0	0	6814	1144	40	1	340	1	GRIK1	21	30927396	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		30927396	17202499	15	2129											
SF3A3	10946	broad.mit.edu	37	1	38455621	38455621	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr1:38455621T>C	ENST00000373019.4	-	1	972	c.17A>G	c.(16-18)gAg>gGg	p.E6G	SF3A3_ENST00000448721.2_Missense_Mutation_p.E6G	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	6					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGCTGCTGCTCCAGTATTGT	0.592											OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	63					0	0	1	0	0	C	38455621	T	C	38455621	3	2	122	1	0	0	0	0	1	0	0	0	14202	1551	54	4	1556	4	SF3A3	1	38455621	Missense_Mutation	SNP	T	TCGA-SR-A6MV-01A-11D-A35I-08		38455621	210795000	1	2130											
FAM159A	348378	broad.mit.edu	37	1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522													4	115					0	0	1	0	0	A	53108560	G	A	53108560	3	1	122	1	0	0	0	0	1	0	0	0	5498	1145	40	1	214	1	FAM159A	1	53108560	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	14652939	53108560	196142061	2	2131											
EPAS1	2034	broad.mit.edu	37	2	46607406	46607406	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr2:46607406A>G	ENST00000263734.3	+	12	2105	c.1595A>G	c.(1594-1596)tAt>tGt	p.Y532C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	532	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCACCCTATATCCCCATG	0.587													75	10					0	0	1	0	0	G	46607406	A	G	46607406	3	3	122	1	0	0	0	0	1	0	0	0	5178	449	16	4	1641	4	EPAS1	2	46607406	Missense_Mutation	SNP	A	TCGA-SR-A6MV-01A-11D-A35I-08		46607406	196591967	3	2132											
EHBP1	23301	broad.mit.edu	37	2	63220752	63220752	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr2:63220752G>A	ENST00000263991.5	+	19	3516	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I|EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1012						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATTCTACAGTCAGAAAAAC	0.338													8	42					0	0	1	0	0	A	63220752	G	A	63220752	3	1	122	1	0	0	0	0	1	0	0	0	5001	1029	36	3	3104	3	EHBP1	2	63220752	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	16613346	63220752	179978621	4	2133											
ARSI	340075	broad.mit.edu	37	5	149677492	149677492	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr5:149677492G>T	ENST00000328668.7	-	2	1574	c.995C>A	c.(994-996)cCc>cAc	p.P332H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	332						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGAGCAGGGGACTGTGGAC	0.637													7	31					3.09899e-07	3.09899e-07	1	1	0	T	149677492	G	T	149677492	3	4	122	1	0	0	0	0	1	0	0	0	993	1232	43	5	718	5	ARSI	5	149677492	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		149677492	31237768	5	2134											
GSTA1	2938	broad.mit.edu	37	6	52658986	52658986	+	Silent	SNP	T	T	C			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr6:52658986T>C	ENST00000334575.5	-	5	506	c.351A>G	c.(349-351)aaA>aaG	p.K117K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	117	GST C-terminal.		K -> Q (in dbSNP:rs1051757).		glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCTTGGCATCTTTTTCCTCAG	0.398													4	194					0	0	1	0	0	C	52658986	T	C	52658986	2	2	122	1	0	0	0	0	0	0	0	1	6871	1606	56	4		4	GSTA1	6	52658986	Silent	SNP	T	TCGA-SR-A6MV-01A-11D-A35I-08		52658986	118456081	6	2135											
COL19A1	1310	broad.mit.edu	37	6	70854156	70854156	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr6:70854156G>A	ENST00000322773.4	+	24	1782		c.e24+1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGAAAAGGTATAGTTTAC	0.398													41	60					0	0	1	0	0	A	70854156	G	A	70854156	5	1	122	1	0	0	0	0	0	0	1	0	3699	1275	44	3	1771	3	COL19A1	6	70854156	Splice_Site	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	18195170	70854156	100260911	7	2136											
CUX1	1523	broad.mit.edu	37	7	101559400	101559400	+	Silent	SNP	A	A	G			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr7:101559400A>G	ENST00000360264.3	+	2	89	c.69A>G	c.(67-69)gaA>gaG	p.E23E	CUX1_ENST00000546411.2_Silent_p.E12E|CUX1_ENST00000292538.4_Silent_p.E23E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Silent_p.E12E|CUX1_ENST00000547394.2_Silent_p.E23E|CUX1_ENST00000550008.2_Silent_p.E12E|CUX1_ENST00000292535.7_Silent_p.E12E|CUX1_ENST00000549414.2_Silent_p.E12E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Silent_p.E23E|CUX1_ENST00000425244.2_Silent_p.E23E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	12					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACAGAGAGAACTCGATGCCA	0.502													9	121					0	0	1	0	0	G	101559400	A	G	101559400	2	3	122	1	0	0	0	0	0	0	0	1	4087	40	2	4		4	CUX1	7	101559400	Silent	SNP	A	TCGA-SR-A6MV-01A-11D-A35I-08		101559400	57579263	8	2137											
ARNTL	406	broad.mit.edu	37	11	13402802	13402802	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr11:13402802G>A	ENST00000389708.3	+	18	2067		c.e18+1		ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGGCAAGAAGGTAAGACTGAT	0.502													3	37					0	0	1	0	0	A	13402802	G	A	13402802	5	1	122	1	0	0	0	0	0	0	1	0	966	1275	44	3	1684	3	ARNTL	11	13402802	Splice_Site	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		13402802	121603714	9	2138											
EPS8	0	broad.mit.edu	37	12	15800190	15800190	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr12:15800190G>C	ENST00000281172.5	-	15	1875	c.1439C>G	c.(1438-1440)tCc>tGc	p.S480C	EPS8_ENST00000543523.1_Missense_Mutation_p.S480C|EPS8_ENST00000540613.1_Missense_Mutation_p.S220C|EPS8_ENST00000543612.1_Missense_Mutation_p.S480C|EPS8_ENST00000542903.1_Missense_Mutation_p.S220C	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	480					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGATACACTGGAATGCTGAAA	0.428													15	43					0	0	1	0	0	C	15800190	G	C	15800190	3	2	122	1	0	0	0	0	1	0	0	0	5222	1174	41	5	1057	5	EPS8	12	15800190	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		15800190	118051705	10	2139											
SEZ6L2	26470	broad.mit.edu	37	16	29908335	29908335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr16:29908335delC	ENST00000308713.5	-	3	846	c.319delG	c.(319-321)tcfs	p.V107fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Del_p.V63fs|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000346932.5_Frame_Shift_Del_p.V107fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	107	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAGGGGTGACGGCTGTTGTC	0.736													2	4	---	---	---	---						-	29908335	C	-	29908335	7	5	122	1	0	1	0	1	0	0	0	0	14198	536	19	0	2516	0	SEZ6L2	16	29908335	Frame_Shift_Del	DEL	C	TCGA-SR-A6MV-01A-11D-A35I-08		29908335	60446418	11	2140											
ZNF507	22847	broad.mit.edu	37	19	32845169	32845169	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr19:32845169C>T	ENST00000311921.3	+	2	1625	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ZNF507_ENST00000355898.5_Missense_Mutation_p.A478V|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.A478V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GATGAGAATGCCCCACCAGGC	0.448													3	45					0	0	1	0	0	T	32845169	C	T	32845169	3	4	122	1	0	0	0	0	1	0	0	0	18010	739	26	3	1435	3	ZNF507	19	32845169	Missense_Mutation	SNP	C	TCGA-SR-A6MV-01A-11D-A35I-08		32845169	26283814	12	2141											
LAMC1	3915	broad.mit.edu	37	1	183099545	183099545	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:183099545G>A	ENST00000258341.4	+	19	3604	c.3347G>A	c.(3346-3348)cGt>cAt	p.R1116H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1116	Domain II and I.		R -> H (in a colorectal cancer sample; somatic mutation).		axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.R1116H(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTAGCCGTTTACAGAAT	0.428													10	67					0	0	1	0	0	A	183099545	G	A	183099545	3	1	123	1	0	0	0	0	1	0	0	0	8653	1145	40	1	3421	1	LAMC1	1	183099545	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		183099545	66151076	1	2142											
LIN9	286826	broad.mit.edu	37	1	226453951	226453951	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:226453951C>T	ENST00000328205.5	-	9	1492	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q|LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	300					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATAATGTAACCGTGGTGGGGT	0.343													27	20					0	0	1	0	0	T	226453951	C	T	226453951	3	4	123	1	0	0	0	0	1	0	0	0	8854	652	23	2	757	2	LIN9	1	226453951	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	43354406	226453951	22796670	2	2143											
SETD2	29072	broad.mit.edu	37	3	47103836	47103836	+	Splice_Site	SNP	G	G	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:47103836G>C	ENST00000409792.3	-	14	6152	c.6109_splice	c.e14-1	p.T2037_splice	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2037					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGTTCAGTTGCTAAGGGAAA	0.393			"N, F, S, Mis"		clear cell renal carcinoma								58	97					0	0	1	0	0	C	47103836	G	C	47103836	5	2	123	1	0	0	0	0	0	0	1	0	14185	1333	46	5	1616	5	SETD2	3	47103836	Splice_Site	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		47103836	150918594	3	2144											
TACC3	10460	broad.mit.edu	37	4	1732665	1732665	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:1732665C>T	ENST00000313288.4	+	5	1543	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	479						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTTGGCAGCCGAGACCCCAA	0.632													3	32					0	0	1	0	0	T	1732665	C	T	1732665	2	4	123	1	0	0	0	0	0	0	0	1	15560	639	23	2		2	TACC3	4	1732665	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		1732665	189421611	4	2145											
GABRA4	2557	broad.mit.edu	37	4	46967155	46967155	+	Missense_Mutation	SNP	G	G	T	rs41301813		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:46967155G>T	ENST00000264318.3	-	8	1948	c.966C>A	c.(964-966)ttC>ttA	p.F322L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	322					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACAGCTATGAACCAGTCCA	0.433													25	46					3.6726e-16	3.93493e-16	1	1	0	T	46967155	G	T	46967155	3	4	123	1	0	0	0	0	1	0	0	0	6198	1281	45	5	706	5	GABRA4	4	46967155	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	45234490	46967155	144187121	5	2146											
ITPR3	3710	broad.mit.edu	37	6	33652604	33652604	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr6:33652604G>A	ENST00000374316.5	+	40	6251	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1731					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTGGACAAGGAGGGGGCCAC	0.627													6	63					0	0	1	0	0	A	33652604	G	A	33652604	3	1	123	1	0	0	0	0	1	0	0	0	7966	1175	41	3	5345	3	ITPR3	6	33652604	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		33652604	137462463	6	2147											
FKBP9	11328	broad.mit.edu	37	7	33020059	33020059	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:33020059G>C	ENST00000242209.4	+	5	956	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	263					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATTTCCATTGAGAACAAGGT	0.468													55	66					0	0	1	0	0	C	33020059	G	C	33020059	3	2	123	1	0	0	0	0	1	0	0	0	5948	1291	45	5	805	5	FKBP9	7	33020059	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		33020059	126118604	7	2148											
MUC17	140453	broad.mit.edu	37	7	100685415	100685415	+	Missense_Mutation	SNP	A	A	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100685415A>T	ENST00000306151.4	+	3	10782	c.10718A>T	c.(10717-10719)gAa>gTa	p.E3573V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3573	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCAAGTGAAGGAAGCTCT	0.468													70	92					0	0	1	0	0	T	100685415	A	T	100685415	3	4	123	1	0	0	0	0	1	0	0	0	10022	246	9	5	10728	5	MUC17	7	100685415	Missense_Mutation	SNP	A	TCGA-SR-A6MX-01A-11D-A35I-08	67665356	100685415	58453248	8	2149											
ZNHIT1	10467	broad.mit.edu	37	7	100865908	100865908	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100865908C>T	ENST00000305105.2	+	2	574	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	16							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCCGGGCAGCGGCGGGTGCT	0.682													39	59					0	0	1	0	0	T	100865908	C	T	100865908	3	4	123	1	0	0	0	0	1	0	0	0	18248	759	27	1	52	1	ZNHIT1	7	100865908	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	180493	100865908	58272755	9	2150											
TAS2R3	50831	broad.mit.edu	37	7	141464342	141464342	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:141464342G>A	ENST00000247879.2	+	1	446	c.384G>A	c.(382-384)agG>agA	p.R128R	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	128					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAGTTTCTAGGGTGATGGTAT	0.483													34	86					0	0	1	0	0	A	141464342	G	A	141464342	2	1	123	1	0	0	0	0	0	0	0	1	15629	1223	43	3		3	TAS2R3	7	141464342	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	40598434	141464342	17674321	10	2151											
ZNF777	27153	broad.mit.edu	37	7	149152905	149152905	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:149152905C>T	ENST00000247930.4	-	2	532	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	70			R -> W (in dbSNP:rs3735318).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATGTGGCATCCGGCCAGAAGT	0.577													36	54					0	0	1	0	0	T	149152905	C	T	149152905	3	4	123	1	0	0	0	0	1	0	0	0	18199	652	23	2	2306	2	ZNF777	7	149152905	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	7688563	149152905	9985758	11	2152											
MPDZ	8777	broad.mit.edu	37	9	13190215	13190215	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:13190215T>C	ENST00000319217.7	-	16	2299	c.2052A>G	c.(2050-2052)acA>acG	p.T684T	MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	684					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAACCTCTTCTGTACTCTGAC	0.488													17	12					0	0	1	0	0	C	13190215	T	C	13190215	2	2	123	1	0	0	0	0	0	0	0	1	9771	1567	55	4		4	MPDZ	9	13190215	Silent	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08		13190215	128023216	12	2153											
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450	by1000genomes	TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-300)cca>cCCACCAca	p.100_101insTT		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													2	4	---	---	---	---						CCACCA	35906584	-	CCACCA	35906583	7	5	123	1	0	1	1	0	0	0	0	0	7394	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-SR-A6MX-01A-11D-A35I-08	22716368	35906583	105306848	13	2154											
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:98097935C>T	ENST00000419175.1	+	11	1651	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333													3	50					0	0	1	0	0	T	98097935	C	T	98097935	3	4	123	1	0	0	0	0	1	0	0	0	4707	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		98097935	37436812	14	2155											
TRHDE	29953	broad.mit.edu	37	12	73046874	73046874	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:73046874T>A	ENST00000261180.4	+	17	2883	c.2787T>A	c.(2785-2787)aaT>aaA	p.N929K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	929					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGCTCGAAATCCACATGGTC	0.353													25	25					0	0	1	0	0	A	73046874	T	A	73046874	3	1	123	1	0	0	0	0	1	0	0	0	16540	1432	50	5	2853	5	TRHDE	12	73046874	Missense_Mutation	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08		73046874	60805021	15	2156											
MPHOSPH9	10198	broad.mit.edu	37	12	123706152	123706152	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:123706152T>C	ENST00000606320.1	-	5	845	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K|MPHOSPH9_ENST00000541076.2_Silent_p.K183K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	61					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCTTAGGGTCTTTAGATTTGT	0.438													38	59					0	0	1	0	0	C	123706152	T	C	123706152	2	2	123	1	0	0	0	0	0	0	0	1	9777	1606	56	4		4	MPHOSPH9	12	123706152	Silent	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08	50659278	123706152	10145743	16	2157											
TGDS	23483	broad.mit.edu	37	13	95235377	95235377	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:95235377C>T	ENST00000261296.5	-	5	547	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	143					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATACTTCATCTGTGCTGACA	0.373													24	45					0	0	1	0	0	T	95235377	C	T	95235377	3	4	123	1	0	0	0	0	1	0	0	0	15874	913	32	3	657	3	TGDS	13	95235377	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		95235377	19934501	17	2158											
BATF	10538	broad.mit.edu	37	14	76012949	76012949	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:76012949G>A	ENST00000286639.6	+	3	571	c.313G>A	c.(313-315)Gag>Aag	p.E105K	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	105						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CTCGCCCCCCGAGGTGGTGTA	0.657													8	16					0	0	1	0	0	A	76012949	G	A	76012949	3	1	123	1	0	0	0	0	1	0	0	0	1323	1059	37	2	323	2	BATF	14	76012949	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		76012949	31336591	18	2159											
BCL11B	64919	broad.mit.edu	37	14	99737529	99737529	+	Silent	SNP	C	C	G			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:99737529C>G	ENST00000345514.2	-	1	293	c.27G>C	c.(25-27)ccG>ccC	p.P9P	BCL11B_ENST00000357195.3_Silent_p.P9P|BCL11B_ENST00000443726.2_Silent_p.P9P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACAAGTGCTGCGGGTTGCCCT	0.701			T	TLX3	T-ALL								5	10					0	0	1	0	0	G	99737529	C	G	99737529	2	3	123	1	0	0	0	0	0	0	0	1	1362	755	27	5		5	BCL11B	14	99737529	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	23724580	99737529	7612011	19	2160											
CORO7	79585	broad.mit.edu	37	16	4408410	4408410	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:4408410C>T	ENST00000251166.4	-	24	2560	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q	CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGGAGGACTGACGCAGCC	0.697													9	15					0	0	1	0	0	T	4408410	C	T	4408410	2	4	123	1	0	0	0	0	0	0	0	1	3782	564	20	3		3	CORO7	16	4408410	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		4408410	85946343	20	2161											
DNAH9	1770	broad.mit.edu	37	17	11543597	11543597	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:11543597G>A	ENST00000262442.3	+	10	1865	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	DNAH9_ENST00000454412.2_Silent_p.P599P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	599	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCTCCCCGGTGCACAAGA	0.597													13	123					0	0	1	0	0	A	11543597	G	A	11543597	2	1	123	1	0	0	0	0	0	0	0	1	4635	1103	39	2		2	DNAH9	17	11543597	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		11543597	69651613	21	2162											
GAA	2548	broad.mit.edu	37	17	78083827	78083827	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:78083827C>T	ENST00000302262.3	+	9	1629	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	GAA_ENST00000390015.3_Silent_p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	470					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TCATCACCAACGAGACCGGCC	0.667													18	42					0	0	1	0	0	T	78083827	C	T	78083827	2	4	123	1	0	0	0	0	0	0	0	1	6182	535	19	1		1	GAA	17	78083827	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	66540230	78083827	3111383	22	2163											
CHERP	10523	broad.mit.edu	37	19	16632349	16632349	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:16632349G>A	ENST00000546361.2	-	12	2248	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	CHERP_ENST00000198939.6_Silent_p.H710H|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	699					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.H699Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGGGCCTGTCGTGGGACGGGG	0.672													7	4					0	0	1	0	0	A	16632349	G	A	16632349	2	1	123	1	0	0	0	0	0	0	0	1	3358	1136	40	1		1	CHERP	19	16632349	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		16632349	42496634	23	2164											
CIC	23152	broad.mit.edu	37	19	42791285	42791285	+	Silent	SNP	G	G	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:42791285G>T	ENST00000572681.2	+	4	3140	c.3072G>T	c.(3070-3072)ggG>ggT	p.G1024G	CIC_ENST00000575354.2_Silent_p.G115G|CIC_ENST00000160740.3_Silent_p.G115G			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	115	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTTTGGGGGTGGTGGAAT	0.682			"Mis, F, S"		oligodendroglioma								4	54					2.56e-06	2.56e-06	1	1	0	T	42791285	G	T	42791285	2	4	123	1	0	0	0	0	0	0	0	1	3446	1219	43	5		5	CIC	19	42791285	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	26158936	42791285	16337698	24	2165											
NLRP12	91662	broad.mit.edu	37	19	54314500	54314500	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:54314500C>T	ENST00000324134.6	-	3	581	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	138					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCATGAGCCGGAATTTCCT	0.552													12	127					0	0	1	0	0	T	54314500	C	T	54314500	3	4	123	1	0	0	0	0	1	0	0	0	10521	652	23	2	2900	2	NLRP12	19	54314500	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	11523215	54314500	4814483	25	2166											
PAX1	5075	broad.mit.edu	37	20	21689898	21689898	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:21689898C>T	ENST00000398485.2	+	4	1152	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	366					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCTTTCTCCCCGCCTGCGCCT	0.711													44	61					0	0	1	0	0	T	21689898	C	T	21689898	2	4	123	1	0	0	0	0	0	0	0	1	11525	639	23	2		2	PAX1	20	21689898	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		21689898	41335622	26	2167											
TSHZ2	128553	broad.mit.edu	37	20	51871509	51871509	+	Silent	SNP	A	A	G			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:51871509A>G	ENST00000371497.5	+	2	2399	c.1512A>G	c.(1510-1512)gaA>gaG	p.E504E	TSHZ2_ENST00000603338.2_Silent_p.E501E|TSHZ2_ENST00000329613.6_Silent_p.E501E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	504					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGGGAGGAAGACTTGGAAG	0.448													3	63					0	0	1	0	0	G	51871509	A	G	51871509	2	3	123	1	0	0	0	0	0	0	0	1	16685	69	3	4		4	TSHZ2	20	51871509	Silent	SNP	A	TCGA-SR-A6MX-01A-11D-A35I-08	30181611	51871509	11154011	27	2168											
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													4	5	---	---	---	---						AC	50165596	-	AC	50165595	6	5	123	0	1	1	1	0	0	0	0	0	4500	29	1	0		0	DGKK	23	50165595	RNA	INS	-	TCGA-SR-A6MX-01A-11D-A35I-08		50165595	105104965	28	2169											
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)cafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTCCCAGTTGGTATGTTGAA	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						59	29	---	---	---	---						-	76777841	G	-	76777841	7	5	123	1	0	1	0	1	0	0	0	0	1206	1348	47	0	619	0	ATRX	23	76777841	Frame_Shift_Del	DEL	G	TCGA-SR-A6MX-01A-11D-A35I-08	26612246	76777841	78492719	29	2170											
FHL1	2273	broad.mit.edu	37	X	135288722	135288722	+	Missense_Mutation	SNP	G	G	A	rs11557264		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:135288722G>A	ENST00000543669.1	+	2	842	c.131G>A	c.(130-132)cGc>cAc	p.R44H	FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000370683.1_Missense_Mutation_p.R60H|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000345434.3_Missense_Mutation_p.R44H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H|FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	44	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGGAATGCCGCAAGCCCATC	0.562													4	89					0	0	1	0	0	A	135288722	G	A	135288722	3	1	123	1	0	0	0	0	1	0	0	0	5911	1087	38	1	250	1	FHL1	23	135288722	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	58510881	135288722	19981838	30	2171											
PEX10	5192	broad.mit.edu	37	1	2340298	2340299	+	Splice_Site	INS	-	-	T			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr1:2340298_2340299insT	ENST00000288774.3	-	3	221		c.e3-1		PEX10_ENST00000447513.2_Splice_Site|PEX10_ENST00000507596.1_Splice_Site|PEX10_ENST00000515760.1_Splice_Site	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10						protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GTCTGGTAGCCTGCGAGGAAGA	0.663													14	5	---	---	---	---						T	2340299	-	T	2340298	8	5	124	1	0	1	1	0	0	0	1	0	11784	695	24	0	863	0	PEX10	1	2340298	Splice_Site	INS	-	TCGA-SR-A6MY-01A-11D-A35I-08		2340298	246910323	1	2172											
PRELP	5549	broad.mit.edu	37	1	203453039	203453039	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr1:203453039G>A	ENST00000343110.2	+	2	854	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	243					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCCCACCGCCATTCACCA	0.532													45	111					0	0	1	0	0	A	203453039	G	A	203453039	3	1	124	1	0	0	0	0	1	0	0	0	12525	1087	38	1	729	1	PRELP	1	203453039	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	201112741	203453039	45797582	2	2173											
C3orf37	0	broad.mit.edu	37	3	129007830	129007830	+	Missense_Mutation	SNP	G	G	T	rs114856369	by1000genomes	TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr3:129007830G>T	ENST00000383463.4	+	3	406	c.317G>T	c.(316-318)cGg>cTg	p.R106L	C3orf37_ENST00000417226.2_Missense_Mutation_p.R106L|C3orf37_ENST00000389735.3_Missense_Mutation_p.R106L|C3orf37_ENST00000502878.2_Missense_Mutation_p.R106L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		106										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						ATGGAGAAACGGTCATTTAAG	0.468													3	46					0.115264	0.115264	1	1	0	T	129007830	G	T	129007830	3	4	124	1	0	0	0	0	1	0	0	0	2241	1116	39	5	323	5	C3orf37	3	129007830	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		129007830	69014600	3	2174											
GOT1	2805	broad.mit.edu	37	10	101157431	101157431	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr10:101157431T>C	ENST00000370508.5	-	9	1142	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	GOT1_ENST00000543866.1_Missense_Mutation_p.E351G	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	372					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACCAGATACTCAACCTGCTT	0.443													4	52					0	0	1	0	0	C	101157431	T	C	101157431	3	2	124	1	0	0	0	0	1	0	0	0	6618	1551	54	4	130	4	GOT1	10	101157431	Missense_Mutation	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		101157431	34377316	4	2175											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			40	49					0	0	1	0	0	C	533874	T	C	533874	3	2	124	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		533874	134472642	5	2176											
EPS8L2	64787	broad.mit.edu	37	11	721659	721659	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:721659A>G	ENST00000533256.1	+	11	1238	c.863A>G	c.(862-864)aAg>aGg	p.K288R	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.K288R|EPS8L2_ENST00000526198.1_Missense_Mutation_p.K304R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.K288R			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCGGAAAAAGGGGAAGAAG	0.657													3	39					0	0	1	0	0	G	721659	A	G	721659	3	3	124	1	0	0	0	0	1	0	0	0	5224	72	3	4	897	4	EPS8L2	11	721659	Missense_Mutation	SNP	A	TCGA-SR-A6MY-01A-11D-A35I-08	187785	721659	134284857	6	2177											
CHRM4	1132	broad.mit.edu	37	11	46408059	46408059	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:46408059G>A	ENST00000433765.2	-	1	48	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	17					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTGACCAGGCGCACGGACTGA	0.577													4	127					0	0	1	0	0	A	46408059	G	A	46408059	3	1	124	1	0	0	0	0	1	0	0	0	3401	1087	38	1	1394	1	CHRM4	11	46408059	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	45686400	46408059	88598457	7	2178											
PCDH9	5101	broad.mit.edu	37	13	67802021	67802021	+	Silent	SNP	C	C	T			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr13:67802021C>T	ENST00000544246.1	-	2	1243	c.552G>A	c.(550-552)ggG>ggA	p.G184G	PCDH9_ENST00000377861.3_Silent_p.G184G|PCDH9_ENST00000456367.1_Silent_p.G184G|PCDH9_ENST00000377865.2_Silent_p.G184G|PCDH9_ENST00000328454.5_Silent_p.G184G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAACACTCTGCCCATTTAACA	0.428													4	169					0	0	1	0	0	T	67802021	C	T	67802021	2	4	124	1	0	0	0	0	0	0	0	1	11565	726	26	3		3	PCDH9	13	67802021	Silent	SNP	C	TCGA-SR-A6MY-01A-11D-A35I-08		67802021	47367857	8	2179											
ACIN1	22985	broad.mit.edu	37	14	23531643	23531643	+	Silent	SNP	T	T	C			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr14:23531643T>C	ENST00000262710.1	-	15	3474	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K	ACIN1_ENST00000397341.3_Silent_p.K291K|ACIN1_ENST00000557515.1_Silent_p.K290K|ACIN1_ENST00000357481.2_Silent_p.K291K|ACIN1_ENST00000338631.6_Silent_p.K322K|ACIN1_ENST00000555053.1_Silent_p.K1036K|ACIN1_ENST00000457657.1_Silent_p.K1009K|ACIN1_ENST00000605057.1_Silent_p.K991K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1049					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGCAATGAGATTTGATCTTGT	0.478													91	148					0	0	1	0	0	C	23531643	T	C	23531643	2	2	124	1	0	0	0	0	0	0	0	1	142	1490	52	4		4	ACIN1	14	23531643	Silent	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		23531643	83817897	9	2180											
GPRC5B	0	broad.mit.edu	37	16	19873270	19873270	+	Silent	SNP	G	G	A	rs146737474	byFrequency	TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr16:19873270G>A	ENST00000300571.2	-	3	1247	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	GPRC5B_ENST00000569479.1_Silent_p.N352N|GPRC5B_ENST00000569847.1_Silent_p.N352N|GPRC5B_ENST00000537135.1_Silent_p.N378N|GPRC5B_ENST00000535671.1_Silent_p.N352N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	352										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCAAGCTGCCGTTGGGAAATC	0.517													4	64					0	0	1	0	0	A	19873270	G	A	19873270	2	1	124	1	0	0	0	0	0	0	0	1	6766	1136	40	1		1	GPRC5B	16	19873270	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		19873270	70481483	10	2181											
GLTSCR2	29997	broad.mit.edu	37	19	48255821	48255821	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr19:48255821C>T	ENST00000246802.5	+	6	760	c.722C>T	c.(721-723)gCg>gTg	p.A241V	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						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)		GTGGAGGTGGCGCCTGCCGGA	0.667													3	47					0	0	1	0	0	T	48255821	C	T	48255821	3	4	124	1	0	0	0	0	1	0	0	0	6517	768	27	1	744	1	GLTSCR2	19	48255821	Missense_Mutation	SNP	C	TCGA-SR-A6MY-01A-11D-A35I-08		48255821	10873162	11	2182											
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			6	438					0	0	1	0	0	A	140994960	G	A	140994960	2	1	124	1	0	0	0	0	0	0	0	1	9230	1364	48	3		3	MAGEC1	23	140994960	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		140994960	14275600	12	2183											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	122					0	0	1	0	0	A	150156360	G	A	150156360	2	1	124	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	9161400	150156360	5114200	13	2184											
DDI2	84301	broad.mit.edu	37	1	15956918	15956918	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr1:15956918G>A	ENST00000480945.1	+	3	538	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	123					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCATCTCCTGGAGAAATAAC	0.537													24	31					0	0	1	0	0	A	15956918	G	A	15956918	3	1	125	1	0	0	0	0	1	0	0	0	4352	1349	47	3	377	3	DDI2	1	15956918	Missense_Mutation	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		15956918	233293703	1	2185											
EPHB2	2048	broad.mit.edu	37	1	23232562	23232562	+	Silent	SNP	T	T	C			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr1:23232562T>C	ENST00000400191.3	+	10	1866	c.1848T>C	c.(1846-1848)atT>atC	p.I616I	EPHB2_ENST00000374630.3_Silent_p.I616I|EPHB2_ENST00000374627.1_Silent_p.I611I|EPHB2_ENST00000374632.3_Silent_p.I617I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	616					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAAGGAAATTGACATCTCCT	0.542													8	19					0	0	1	0	0	C	23232562	T	C	23232562	2	2	125	1	0	0	0	0	0	0	0	1	5203	1800	63	4		4	EPHB2	1	23232562	Silent	SNP	T	TCGA-SR-A6MZ-01A-11D-A35I-08	7275644	23232562	226018059	2	2186											
CHST2	9435	broad.mit.edu	37	3	142840567	142840567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr3:142840567delA	ENST00000309575.3	+	2	2293	c.909delA	c.(907-909)atfs	p.I303fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	303					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CACTAGTCATAAAGGGTGTGC	0.657													2	4	---	---	---	---						-	142840567	A	-	142840567	7	5	125	1	0	1	0	1	0	0	0	0	3426	352	13	0	911	0	CHST2	3	142840567	Frame_Shift_Del	DEL	A	TCGA-SR-A6MZ-01A-11D-A35I-08		142840567	55181863	3	2187											
EGF	1950	broad.mit.edu	37	4	110925779	110925779	+	Splice_Site	SNP	G	G	C			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr4:110925779G>C	ENST00000265171.5	+	22	3736		c.e22+1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCAACCTTGGGTAATGTGACC	0.438													5	49					0	0	1	0	0	C	110925779	G	C	110925779	5	2	125	1	0	0	0	0	0	0	1	0	4988	1275	44	5	3378	5	EGF	4	110925779	Splice_Site	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		110925779	80228497	4	2188											
PLEKHG4B	153478	broad.mit.edu	37	5	140562	140563	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr5:140562_140563insC	ENST00000283426.6	+	1	190_191	c.140_141insC	c.(139-141)gccfs	p.A47fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	47					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAACCTCTGGCCCCCGGGGAG	0.673													2	4	---	---	---	---						C	140563	-	C	140562	7	5	125	1	0	1	1	0	0	0	0	0	12120	1203	42	0	142	0	PLEKHG4B	5	140562	Frame_Shift_Ins	INS	-	TCGA-SR-A6MZ-01A-11D-A35I-08		140562	180774698	5	2189											
ABCA13	154664	broad.mit.edu	37	7	48311940	48311940	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr7:48311940C>T	ENST00000435803.1	+	17	2701	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	893					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATTTTGTACGTTTAAGTGA	0.383													11	94					0	0	1	0	0	T	48311940	C	T	48311940	3	4	125	1	0	0	0	0	1	0	0	0	31	536	19	1	2572	1	ABCA13	7	48311940	Missense_Mutation	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08		48311940	110826723	6	2190											
PTCHD3	374308	broad.mit.edu	37	10	27700844	27700844	+	Silent	SNP	T	T	C			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr10:27700844T>C	ENST00000438700.3	-	2	1221	c.1104A>G	c.(1102-1104)acA>acG	p.T368T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	368					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGAAAGCGATGTAAAGTGGA	0.358													25	27					0	0	1	0	0	C	27700844	T	C	27700844	2	2	125	1	0	0	0	0	0	0	0	1	12783	1451	51	4		4	PTCHD3	10	27700844	Silent	SNP	T	TCGA-SR-A6MZ-01A-11D-A35I-08		27700844	107833903	7	2191											
MUC15	143662	broad.mit.edu	37	11	26582751	26582751	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr11:26582751G>A	ENST00000436318.2	-	4	1080	c.947C>T	c.(946-948)cCg>cTg	p.P316L	MUC15_ENST00000281268.8_Missense_Mutation_p.P266L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P289L|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P316L|MUC15_ENST00000527569.1_Missense_Mutation_p.P266L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000529242.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	289						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATAAGGTTCCGGTGCATTGTC	0.378													8	28					0	0	1	0	0	A	26582751	G	A	26582751	3	1	125	1	0	0	0	0	1	0	0	0	10020	1116	39	2	142	2	MUC15	11	26582751	Missense_Mutation	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		26582751	108423765	8	2192											
LILRB5	0	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													3	44					0	0	1	0	0	G	54754843	A	G	54754843	3	3	125	1	0	0	0	0	1	0	0	0	8834	319	11	4		4	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-SR-A6MZ-01A-11D-A35I-08		54754843	4374140	9	2193											
FRMPD4	9758	broad.mit.edu	37	X	12735149	12735149	+	Silent	SNP	C	C	T			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chrX:12735149C>T	ENST00000380682.1	+	15	3077	c.2571C>T	c.(2569-2571)gcC>gcT	p.A857A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	857					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCACCAGCGCCGAAGGCAAGT	0.567													17	83					0	0	1	0	0	T	12735149	C	T	12735149	2	4	125	1	0	0	0	0	0	0	0	1	6094	639	23	2		2	FRMPD4	23	12735149	Silent	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08		12735149	142535411	10	2194											
MAGEB6	158809	broad.mit.edu	37	X	26213093	26213093	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chrX:26213093C>T	ENST00000379034.1	+	2	1279	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	377	MAGE.							p.A377D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGTTTTGGCCGACAGCAGT	0.512													4	128					0	0	1	0	0	T	26213093	C	T	26213093	3	4	125	1	0	0	0	0	1	0	0	0	9229	739	26	3	1132	3	MAGEB6	23	26213093	Missense_Mutation	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08	13477944	26213093	129057467	11	2195											
ALG6	29929	broad.mit.edu	37	1	63877718	63877718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr1:63877718delC	ENST00000371108.4	+	9	1107	c.802delC	c.(802-804)gtfs	p.R268fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	268					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCCGGTTGATCGTGGATTATT	0.438													42	140	---	---	---	---						-	63877718	C	-	63877718	7	5	126	1	0	1	0	1	0	0	0	0	518	884	31	0	832	0	ALG6	1	63877718	Frame_Shift_Del	DEL	C	TCGA-SR-A6N0-01A-11D-A35I-08		63877718	185372903	1	2196											
KLHL23	151230	broad.mit.edu	37	2	170606207	170606207	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr2:170606207C>T	ENST00000392647.2	+	4	1886	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W|KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	548										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGTGCCATGCGGTCTCATGG	0.373													4	100					0	0	1	0	0	T	170606207	C	T	170606207	3	4	126	1	0	0	0	0	1	0	0	0	8421	759	27	1	1652	1	KLHL23	2	170606207	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		170606207	72593166	2	2197											
TRIO	7204	broad.mit.edu	37	5	14391061	14391061	+	Missense_Mutation	SNP	A	A	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:14391061A>T	ENST00000344204.4	+	27	4204	c.4180A>T	c.(4180-4182)Act>Tct	p.T1394S	TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S|TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1394	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTGATTCTACTCAGCTGAT	0.343													17	56					0	0	1	0	0	T	14391061	A	T	14391061	3	4	126	1	0	0	0	0	1	0	0	0	16613	391	14	5	4286	5	TRIO	5	14391061	Missense_Mutation	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		14391061	166524199	3	2198											
P4HA2	8974	broad.mit.edu	37	5	131546166	131546166	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:131546166G>A	ENST00000401867.1	-	7	1088	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	174						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.R174C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGGCCGAGCGGCCCATCCCA	0.537													22	354					0	0	1	0	0	A	131546166	G	A	131546166	3	1	126	1	0	0	0	0	1	0	0	0	11404	1116	39	2	1191	2	P4HA2	5	131546166	Missense_Mutation	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08	117155105	131546166	49369094	4	2199											
NOTCH4	4855	broad.mit.edu	37	6	32184732	32184732	+	Silent	SNP	A	A	G			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr6:32184732A>G	ENST00000375023.3	-	11	1989	c.1851T>C	c.(1849-1851)tcT>tcC	p.S617S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	617	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGTGAAACCAGAGGGGCAGA	0.527													12	39					0	0	1	0	0	G	32184732	A	G	32184732	2	3	126	1	0	0	0	0	0	0	0	1	10598	175	7	4		4	NOTCH4	6	32184732	Silent	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		32184732	138930335	5	2200											
OR1J2	26740	broad.mit.edu	37	9	125273104	125273104	+	Silent	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:125273104C>T	ENST00000335302.5	+	1	24	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCAGAGCAGCGTGTCCGAGT	0.527													4	96					0	0	1	0	0	T	125273104	C	T	125273104	2	4	126	1	0	0	0	0	0	0	0	1	11008	767	27	1		1	OR1J2	9	125273104	Silent	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		125273104	15940327	6	2201											
NOTCH1	4851	broad.mit.edu	37	9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	217					0	0	1	0	0	T	139414008	C	T	139414008	3	4	126	1	0	0	0	0	1	0	0	0	10594	739	26	3	7035	3	NOTCH1	9	139414008	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08	14140904	139414008	1799423	7	2202											
OR6C76	390326	broad.mit.edu	37	12	55820078	55820078	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr12:55820078G>A	ENST00000328314.3	+	1	41	c.41G>A	c.(40-42)gGt>gAt	p.G14D		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCTTCTGGGTCTGACGGAT	0.373													21	56					0	0	1	0	0	A	55820078	G	A	55820078	3	1	126	1	0	0	0	0	1	0	0	0	11247	1261	44	3	43	3	OR6C76	12	55820078	Missense_Mutation	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08		55820078	78031817	8	2203											
HNF1B	6928	broad.mit.edu	37	17	36099431	36099431	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr17:36099431G>A	ENST00000225893.4	-	2	905	c.544_splice	c.e2+1	p.Q182_splice	HNF1B_ENST00000560016.1_Splice_Site_p.Q182_splice|HNF1B_ENST00000427275.2_Splice_Site_p.Q182_splice|HNF1B_ENST00000561193.1_Splice_Site_p.Q182_splice	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	182					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAACACTTACGTCGGAGGATC	0.547													5	64					0	0	1	0	0	A	36099431	G	A	36099431	5	1	126	1	0	0	0	0	0	0	1	0	7293	1159	40	1	1161	1	HNF1B	17	36099431	Splice_Site	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08		36099431	45095779	9	2204											
PCSK4	54760	broad.mit.edu	37	19	1490185	1490185	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:1490185C>T	ENST00000300954.5	-	1	222	c.161G>A	c.(160-162)cGc>cAc	p.R54H	PCSK4_ENST00000587784.1_Intron	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	54					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGAATTTGCGTGCCAGGCG	0.687													4	50					0	0	1	0	0	T	1490185	C	T	1490185	3	4	126	1	0	0	0	0	1	0	0	0	11649	768	27	1	2166	1	PCSK4	19	1490185	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		1490185	57638798	10	2205											
ZNF528	84436	broad.mit.edu	37	19	52919463	52919463	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:52919463C>G	ENST00000360465.3	+	7	1784	c.1358C>G	c.(1357-1359)aCt>aGt	p.T453S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAGACCTTACTGCCCATTTT	0.373													5	98					0	0	1	0	0	G	52919463	C	G	52919463	3	3	126	1	0	0	0	0	1	0	0	0	18026	565	20	5	1372	5	ZNF528	19	52919463	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08	51429278	52919463	6209520	11	2206											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	125					0	0	1	0	0	G	37028425	A	G	37028425	3	3	126	1	0	0	0	0	1	0	0	0	5607	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		37028425	118242135	12	2207											
SYT6	148281	broad.mit.edu	37	1	114680328	114680328	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr1:114680328C>T	ENST00000393296.1	-	3	937	c.860G>A	c.(859-861)cGc>cAc	p.R287H	SYT6_ENST00000369547.1_Missense_Mutation_p.R202H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	287	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGTCTTGCGGTGCACCCG	0.547													5	26					0	0	1	0	0	T	114680328	C	T	114680328	3	4	127	1	0	0	0	0	1	0	0	0	15535	768	27	1	692	1	SYT6	1	114680328	Missense_Mutation	SNP	C	TCGA-TT-A6YJ-01A-11D-A35I-08		114680328	134570293	1	2208											
VNN2	8875	broad.mit.edu	37	6	133073759	133073759	+	Missense_Mutation	SNP	G	G	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr6:133073759G>T	ENST00000326499.6	-	4	791	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.L170M	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	223	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCTTTCACCAGGGTAACACCA	0.443													4	69					0.00909568	0.00970206	1	1	0	T	133073759	G	T	133073759	3	4	127	1	0	0	0	0	1	0	0	0	17243	991	35	5	911	5	VNN2	6	133073759	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		133073759	38041308	2	2209											
TAF1L	138474	broad.mit.edu	37	9	32633094	32633094	+	Silent	SNP	A	A	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr9:32633094A>T	ENST00000242310.4	-	1	2573	c.2484T>A	c.(2482-2484)gtT>gtA	p.V828V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	828					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTAAATAAAAACCTGTAGAA	0.438													47	57					0	0	1	0	0	T	32633094	A	T	32633094	2	4	127	1	0	0	0	0	0	0	0	1	15580	1	1	5		5	TAF1L	9	32633094	Silent	SNP	A	TCGA-TT-A6YJ-01A-11D-A35I-08		32633094	108580337	3	2210											
PDE2A	5138	broad.mit.edu	37	11	72292484	72292484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:72292484delG	ENST00000334456.5	-	23	2207	c.1962delC	c.(1960-1962)ccfs	p.P654fs	PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	654	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGTTGTGGTAGGGGGGATCCC	0.582													2	4	---	---	---	---						-	72292484	G	-	72292484	7	5	127	1	0	1	0	1	0	0	0	0	11683	987	35	0	899	0	PDE2A	11	72292484	Frame_Shift_Del	DEL	G	TCGA-TT-A6YJ-01A-11D-A35I-08		72292484	62714032	4	2211											
DLAT	1737	broad.mit.edu	37	11	111930686	111930690	+	Frame_Shift_Del	DEL	TTGTG	TTGTG	-			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:111930686_111930690delTTGTG	ENST00000280346.6	+	12	2233_2237	c.1574_1578delTTGTG	c.(1573-1578)afs	p.IV525fs	DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs|DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	525	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATCACACCTATTGTGTTTAATGCAC	0.351													8	21	---	---	---	---						-	111930690	TTGTG	-	111930686	7	5	127	1	0	1	0	1	0	0	0	0	4577	1493	52	0	1620	0	DLAT	11	111930686	Frame_Shift_Del	DEL	TTGTG	TCGA-TT-A6YJ-01A-11D-A35I-08	39638202	111930686	23075830	5	2212											
IQSEC3	440073	broad.mit.edu	37	12	247904	247904	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr12:247904G>A	ENST00000538872.1	+	4	1493	c.1375G>A	c.(1375-1377)Gcg>Acg	p.A459T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	459					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		gccggagagcgcgggccccgg	0.776													3	5					0	0	1	0	0	A	247904	G	A	247904	3	1	127	1	0	0	0	0	1	0	0	0	7863	1087	38	1	1389	1	IQSEC3	12	247904	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		247904	133603991	6	2213											
KCNH5	27133	broad.mit.edu	37	14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602													3	42					0	0	1	0	0	A	63511901	G	A	63511901	3	1	127	1	0	0	0	0	1	0	0	0	8079	1203	42	3	3040	3	KCNH5	14	63511901	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		63511901	43837639	7	2214											
IL34	146433	broad.mit.edu	37	16	70688489	70688489	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr16:70688489T>C	ENST00000429149.2	+	3	632	c.77T>C	c.(76-78)aTg>aCg	p.M26T	IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T|IL34_ENST00000569641.1_Intron|IL34_ENST00000288098.2_Missense_Mutation_p.M26T	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	26					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CCTTTGGAGATGTGGCCCTTG	0.567											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	30					0	0	1	0	0	C	70688489	T	C	70688489	3	2	127	1	0	0	0	0	1	0	0	0	7738	1464	51	4	83	4	IL34	16	70688489	Missense_Mutation	SNP	T	TCGA-TT-A6YJ-01A-11D-A35I-08		70688489	19666264	8	2215											
SREBF1	6720	broad.mit.edu	37	17	17718150	17718152	+	Splice_Site	DEL	GGT	GGT	-	rs143021204		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr17:17718150_17718152delGGT	ENST00000355815.4	-	15	2858_2860	c.2692_splice	c.e15+1	p.T897_splice	SREBF1_ENST00000395757.1_Splice_Site_p.T613_splice|SREBF1_ENST00000338854.5_Splice_Site_p.T867_splice|SREBF1_ENST00000261646.5_Splice_Site_p.T867_splice	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	867					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGACTCACCGGTGGTGGTGGCC	0.655													2	4	---	---	---	---						-	17718152	GGT	-	17718150	8	5	127	1	0	1	0	1	0	0	1	0	15197	1130	39	0	866	0	SREBF1	17	17718150	Splice_Site	DEL	GGT	TCGA-TT-A6YJ-01A-11D-A35I-08		17718150	63477060	9	2216											
IL2RB	0	broad.mit.edu	37	22	37538550	37538550	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr22:37538550C>T	ENST00000216223.5	-	4	404	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	69					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGGTTCCACCGCCTTTCATG	0.577													6	54					0	0	1	0	0	T	37538550	C	T	37538550	3	4	127	1	0	0	0	0	1	0	0	0	7731	652	23	2	1477	2	IL2RB	22	37538550	Missense_Mutation	SNP	C	TCGA-TT-A6YJ-01A-11D-A35I-08		37538550	13766016	10	2217											
FLG	2312	broad.mit.edu	37	1	152280504	152280504	+	Silent	SNP	G	G	A	rs141571186		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr1:152280504G>A	ENST00000368799.1	-	3	6893	c.6858C>T	c.(6856-6858)caC>caT	p.H2286H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557									Ichthyosis				7	322					0	0	1	0	0	A	152280504	G	A	152280504	2	1	128	1	0	0	0	0	0	0	0	1	5955	1136	40	1		1	FLG	1	152280504	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		152280504	96970117	1	2218											
XPO7	23039	broad.mit.edu	37	8	21827087	21827087	+	Splice_Site	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr8:21827087C>A	ENST00000434536.1	+	3	361	c.259_splice	c.e3+1	p.R87_splice	XPO7_ENST00000433566.4_Splice_Site_p.R88_splice|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Splice_Site_p.R87_splice			Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal.				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398													3	9					6.4e-05	7.31429e-05	1	1	0	A	21827087	C	A	21827087	5	1	128	1	0	0	0	0	0	0	1	0	17509	898	31	5	294	5	XPO7	8	21827087	Splice_Site	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		21827087	124536935	2	2219											
GFI1B	8328	broad.mit.edu	37	9	135866270	135866270	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr9:135866270C>A	ENST00000339463.3	+	11	1645	c.826C>A	c.(826-828)Cac>Aac	p.H276N	GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	276	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TGAGAAGCCGCACAAGTGCCA	0.652													7	27					0.000157383	0.000173664	1	1	0	A	135866270	C	A	135866270	3	1	128	1	0	0	0	0	1	0	0	0	6382	710	25	5	848	5	GFI1B	9	135866270	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		135866270	5347161	3	2220											
NEURL	0	broad.mit.edu	37	10	105331472	105331472	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr10:105331472G>A	ENST00000369780.4	+	3	951	c.542G>A	c.(541-543)cGc>cAc	p.R181H	NEURL_ENST00000369777.2_Missense_Mutation_p.R164H|NEURL_ENST00000465048.1_3'UTR	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		181	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTCTTCCACCGCATCAACGAC	0.637													4	58					0	0	1	0	0	A	105331472	G	A	105331472	3	1	128	1	0	0	0	0	1	0	0	0	10392	1087	38	1	552	1	NEURL	10	105331472	Missense_Mutation	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		105331472	30203275	4	2221											
PLEKHA7	144100	broad.mit.edu	37	11	16863161	16863161	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:16863161C>A	ENST00000355661.3	-	9	815	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	269	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGTTCATGTCCTCCTGGGTG	0.592													6	28					0.0293803	0.0293803	1	1	0	A	16863161	C	A	16863161	3	1	128	1	0	0	0	0	1	0	0	0	12109	855	30	5	2620	5	PLEKHA7	11	16863161	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		16863161	118143355	5	2222											
IGSF9B	22997	broad.mit.edu	37	11	133796909	133796909	+	Missense_Mutation	SNP	T	T	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:133796909T>A	ENST00000321016.8	-	13	1939	c.1709A>T	c.(1708-1710)gAc>gTc	p.D570V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	570	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCCAGGGTGTCCACCAGCAG	0.602													8	5					0	0	1	0	0	A	133796909	T	A	133796909	3	1	128	1	0	0	0	0	1	0	0	0	7650	1667	58	5	2368	5	IGSF9B	11	133796909	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08	116933748	133796909	1209607	6	2223											
STAC3	246329	broad.mit.edu	37	12	57642948	57642948	+	Silent	SNP	T	T	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr12:57642948T>C	ENST00000332782.2	-	3	411	c.210A>G	c.(208-210)gaA>gaG	p.E70E	STAC3_ENST00000554578.1_Silent_p.E31E|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	70	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						cctcctcttcttcctcttcct	0.542													3	40					0	0	1	0	0	C	57642948	T	C	57642948	2	2	128	1	0	0	0	0	0	0	0	1	15297	1606	56	4		4	STAC3	12	57642948	Silent	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		57642948	76208947	7	2224											
SETDB2	83852	broad.mit.edu	37	13	50055170	50055170	+	Silent	SNP	G	G	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr13:50055170G>A	ENST00000354234.4	+	8	1980	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	SETDB2_ENST00000258672.5_Silent_p.Q358Q|SETDB2_ENST00000317257.8_Silent_p.Q370Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	370	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGAGGTTACAGGTGTTCAAAA	0.398													12	95					0	0	1	0	0	A	50055170	G	A	50055170	2	1	128	1	0	0	0	0	0	0	0	1	14193	991	35	3		3	SETDB2	13	50055170	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		50055170	65114708	8	2225											
PCNX	22990	broad.mit.edu	37	14	71570317	71570317	+	Missense_Mutation	SNP	T	T	G			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr14:71570317T>G	ENST00000304743.2	+	32	6472	c.6026T>G	c.(6025-6027)cTt>cGt	p.L2009R	PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R|PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2009						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACGAACAGCTTAAAGACATT	0.453													4	56					0	0	1	0	0	G	71570317	T	G	71570317	3	3	128	1	0	0	0	0	1	0	0	0	11638	1609	56	5	6152	5	PCNX	14	71570317	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		71570317	35779223	9	2226											
NKD1	85407	broad.mit.edu	37	16	50667639	50667641	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr16:50667639_50667641delCAC	ENST00000268459.3	+	10	1584_1586	c.1360_1362delCAC	c.(1360-1362)del	p.H458del		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	458	His-rich.				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGACATGAGcaccaccaccacc	0.655													2	4	---	---	---	---						-	50667641	CAC	-	50667639	7	5	128	1	0	1	0	1	0	0	0	0	10488	710	25	0	1398	0	NKD1	16	50667639	In_Frame_Del	DEL	CAC	TCGA-TT-A6YK-01A-11D-A35I-08		50667639	39687114	10	2227											
NFATC1	4772	broad.mit.edu	37	18	77170440	77170440	+	Silent	SNP	C	C	T			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr18:77170440C>T	ENST00000253506.5	+	2	534	c.165C>T	c.(163-165)gcC>gcT	p.A55A	NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000591814.1_Silent_p.A55A|NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Silent_p.A55A|NFATC1_ENST00000592223.1_Silent_p.A42A|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000329101.4_Silent_p.A42A	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	55					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCAGCCCCGCCCTGCCGCTCC	0.632													5	80					0	0	1	0	0	T	77170440	C	T	77170440	2	4	128	1	0	0	0	0	0	0	0	1	10408	610	22	3		3	NFATC1	18	77170440	Silent	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		77170440	906808	11	2228											
LILRA4	23547	broad.mit.edu	37	19	54848254	54848254	+	Silent	SNP	G	G	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:54848254G>A	ENST00000291759.4	-	6	1169	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	371	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TATGAGCTCCGTACATTGATC	0.587													9	85					0	0	1	0	0	A	54848254	G	A	54848254	2	1	128	1	0	0	0	0	0	0	0	1	8827	1140	40	1		1	LILRA4	19	54848254	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		54848254	4280729	12	2229											
ZNF8	7554	broad.mit.edu	37	19	58797161	58797161	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:58797161C>A	ENST00000196548.5	+	2	276	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCAGAGGATCCTCTACCGTGA	0.537													4	78					0.00909568	0.00938909	1	1	0	A	58797161	C	A	58797161	3	1	128	1	0	0	0	0	1	0	0	0	18216	681	24	5	151	5	ZNF8	19	58797161	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08	3948907	58797161	331822	13	2230											
DIDO1	11083	broad.mit.edu	37	20	61542656	61542656	+	Silent	SNP	G	G	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr20:61542656G>C	ENST00000266070.4	-	3	634	c.309C>G	c.(307-309)ccC>ccG	p.P103P	DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	103					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTCTGTGGCGGGGCAGGACG	0.662													15	19					0	0	1	0	0	C	61542656	G	C	61542656	2	2	128	1	0	0	0	0	0	0	0	1	4550	1103	39	5		5	DIDO1	20	61542656	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		61542656	1482864	14	2231											
PMM1	5372	broad.mit.edu	37	22	41980004	41980004	+	Missense_Mutation	SNP	A	A	T			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980004A>T	ENST00000216259.7	-	5	517	c.433T>A	c.(433-435)Tgc>Agc	p.C145S	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	145					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCCAGGGTGCAGCTCCGGCCG	0.567													9	59					0	0	1	0	0	T	41980004	A	T	41980004	3	4	128	1	0	0	0	0	1	0	0	0	12184	188	7	5	371	5	PMM1	22	41980004	Missense_Mutation	SNP	A	TCGA-TT-A6YK-01A-11D-A35I-08		41980004	9324562	15	2232	18	2									
PMM1	5372	broad.mit.edu	37	22	41980005	41980005	+	Missense_Mutation	SNP	G	G	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980005G>C	ENST00000216259.7	-	5	516	c.432C>G	c.(430-432)agC>agG	p.S144R	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	144					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCAGGGTGCAGCTCCGGCCGA	0.567													9	59					0	0	1	0	0	C	41980005	G	C	41980005	3	2	128	1	0	0	0	0	1	0	0	0	12184	962	34	5	372	5	PMM1	22	41980005	Missense_Mutation	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08	1	41980005	9324561	16	2233	18	2									
TEX11	0	broad.mit.edu	37	X	69825319	69825319	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chrX:69825319T>C	ENST00000395889.2	-	25	2199	c.2044A>G	c.(2044-2046)Aca>Gca	p.T682A	TEX11_ENST00000344304.3_Missense_Mutation_p.T682A|TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000374320.2_Missense_Mutation_p.T357A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	682							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAAACATGTTTTCCGTGCA	0.393													10	21					0	0	1	0	0	C	69825319	T	C	69825319	3	2	128	1	0	0	0	0	1	0	0	0	15833	1725	60	4	806	4	TEX11	23	69825319	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		69825319	85445241	17	2234											
TPR	7175	broad.mit.edu	37	1	186315295	186315295	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr1:186315295C>T	ENST00000367478.3	-	23	3364	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1023					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TATGGCTCTTCTTTTATCATC	0.323			T	NTRK1	papillary thyroid								15	42					0	0	1	0	0	T	186315295	C	T	186315295	3	4	129	1	0	0	0	0	1	0	0	0	16477	913	32	3	4139	3	TPR	1	186315295	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		186315295	62935326	1	2235											
PPP1R12B	4660	broad.mit.edu	37	1	202407189	202407190	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr1:202407189_202407190insT	ENST00000480184.1	+	10	1627_1628	c.1495_1496insT	c.(1495-1497)tttfs	p.F499fs	PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	499					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391													7	35	---	---	---	---						T	202407190	-	T	202407189	7	5	129	1	0	1	1	0	0	0	0	0	12404	1029	36	0	1533	0	PPP1R12B	1	202407189	Frame_Shift_Ins	INS	-	TCGA-TT-A6YN-01A-12D-A35I-08	16091894	202407189	46843432	2	2236											
LIPT1	51601	broad.mit.edu	37	2	99778810	99778810	+	Silent	SNP	G	G	A			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr2:99778810G>A	ENST00000393477.3	+	4	742	c.390G>A	c.(388-390)ctG>ctA	p.L130L	LIPT1_ENST00000393474.3_Silent_p.L130L|LIPT1_ENST00000393473.2_Silent_p.L130L|LIPT1_ENST00000393471.2_Silent_p.L130L|LIPT1_ENST00000340066.1_Silent_p.L130L|MRPL30_ENST00000410042.1_Intron	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	130					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TGGAAAATCTGAAATTAATTG	0.383													5	70					0	0	1	0	0	A	99778810	G	A	99778810	2	1	129	1	0	0	0	0	0	0	0	1	8870	1277	45	3		3	LIPT1	2	99778810	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		99778810	143420563	3	2237											
ITIH1	3697	broad.mit.edu	37	3	52819188	52819188	+	Silent	SNP	C	C	T			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr3:52819188C>T	ENST00000273283.2	+	12	1560	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	ITIH1_ENST00000542827.1_Silent_p.A512A|ITIH1_ENST00000540715.1_Silent_p.A370A|ITIH1_ENST00000537050.1_Silent_p.A224A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	512	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTGTGGTGGCCGGGCGCATTG	0.577													4	84					0	0	1	0	0	T	52819188	C	T	52819188	2	4	129	1	0	0	0	0	0	0	0	1	7947	639	23	2		2	ITIH1	3	52819188	Silent	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		52819188	145203242	4	2238											
TUBE1	51175	broad.mit.edu	37	6	112397154	112397154	+	Silent	SNP	G	G	A			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr6:112397154G>A	ENST00000368662.5	-	8	876	c.798C>T	c.(796-798)ctC>ctT	p.L266L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	266					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTAGGTTGAGGAGCAAATTTG	0.353													51	78					0	0	1	0	0	A	112397154	G	A	112397154	2	1	129	1	0	0	0	0	0	0	0	1	16825	1161	41	3		3	TUBE1	6	112397154	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		112397154	58717913	5	2239											
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr6:123786033delA	ENST00000546248.1	-	9	1022	c.889delT	c.(889-891)ctfs	p.S297fs	RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388													2	4	---	---	---	---						-	123786033	A	-	123786033	7	5	129	1	0	1	0	1	0	0	0	0	16529	261	9	0		0	TRDN	6	123786033	Frame_Shift_Del	DEL	A	TCGA-TT-A6YN-01A-12D-A35I-08	11388879	123786033	47329034	6	2240											
PLG	5340	broad.mit.edu	37	6	161137789	161137789	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr6:161137789C>T	ENST00000308192.9	+	7	844	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	261	Kringle 2.		R -> H (in dbSNP:rs4252187).		extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGACATCCCCCGCTGCAGTGA	0.522													3	42					0	0	1	0	0	T	161137789	C	T	161137789	3	4	129	1	0	0	0	0	1	0	0	0	12134	652	23	2	811	2	PLG	6	161137789	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08	37351756	161137789	9977278	7	2241											
SDK1	221935	broad.mit.edu	37	7	4009006	4009006	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr7:4009006C>T	ENST00000404826.2	+	11	1803	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	SDK1_ENST00000389531.3_Missense_Mutation_p.A555V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	555	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCTGCTATGCGGCCAACACA	0.577													4	167					0	0	1	0	0	T	4009006	C	T	4009006	3	4	129	1	0	0	0	0	1	0	0	0	14022	768	27	1	1706	1	SDK1	7	4009006	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		4009006	155129657	8	2242											
UBE3C	9690	broad.mit.edu	37	7	157060410	157060410	+	Silent	SNP	C	C	G			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr7:157060410C>G	ENST00000348165.5	+	23	3573	c.3213C>G	c.(3211-3213)ctC>ctG	p.L1071L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1071	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTAAACTTCTCTATGCGATTG	0.567													30	35					0	0	1	0	0	G	157060410	C	G	157060410	2	3	129	1	0	0	0	0	0	0	0	1	16942	900	32	5		5	UBE3C	7	157060410	Silent	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08	153051404	157060410	2078253	9	2243											
FBXO10	26267	broad.mit.edu	37	9	37518298	37518298	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr9:37518298G>A	ENST00000432825.2	-	9	2386	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R305W	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	780						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCACTTTGCCGGTTGCAGGAG	0.572													3	62					0	0	1	0	0	A	37518298	G	A	37518298	3	1	129	1	0	0	0	0	1	0	0	0	5759	1115	39	2	544	2	FBXO10	9	37518298	Missense_Mutation	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		37518298	103695133	10	2244											
PCSK7	9159	broad.mit.edu	37	11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627			T	IGH@	MLCLS								9	23					0	0	1	0	0	A	117090363	G	A	117090363	3	1	129	1	0	0	0	0	1	0	0	0	11652	1086	38	1	1122	1	PCSK7	11	117090363	Missense_Mutation	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		117090363	17916153	11	2245											
CHD6	0	broad.mit.edu	37	20	40076589	40076589	+	Silent	SNP	G	G	A			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr20:40076589G>A	ENST00000373233.3	-	24	3883	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	CHD6_ENST00000309279.7_Silent_p.L719L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1236					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGTAGTACAGCATCCGGACT	0.403													4	143					0	0	1	0	0	A	40076589	G	A	40076589	2	1	129	1	0	0	0	0	0	0	0	1	3351	962	34	3		3	CHD6	20	40076589	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		40076589	22948931	12	2246											
ADAMTSL4	54507	broad.mit.edu	37	1	150526285	150526285	+	Missense_Mutation	SNP	G	G	T			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr1:150526285G>T	ENST00000271643.4	+	6	1054	c.818G>T	c.(817-819)gGc>gTc	p.G273V	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G273V|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G273V	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	273					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGAAGGTGGCTTCTTCCGT	0.657													3	26					1	1	1	1	0	T	150526285	G	T	150526285	3	4	130	1	0	0	0	0	1	0	0	0	276	1203	42	5	832	5	ADAMTSL4	1	150526285	Missense_Mutation	SNP	G	TCGA-TT-A6YO-01A-11D-A35I-08		150526285	98724336	1	2247											
KLHL23	151230	broad.mit.edu	37	2	170591547	170591547	+	Missense_Mutation	SNP	A	A	C			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr2:170591547A>C	ENST00000392647.2	+	2	267	c.23A>C	c.(22-24)gAt>gCt	p.D8A	KLHL23_ENST00000272797.4_Missense_Mutation_p.D8A|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	8										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GGACAAGAAGATTATATTTAT	0.313													3	75					0	0	1	0	0	C	170591547	A	C	170591547	3	2	130	1	0	0	0	0	1	0	0	0	8421	333	12	5	25	5	KLHL23	2	170591547	Missense_Mutation	SNP	A	TCGA-TT-A6YO-01A-11D-A35I-08		170591547	72607826	2	2248											
GABRB2	0	broad.mit.edu	37	5	160763709	160763709	+	Silent	SNP	C	C	T	rs138163747	byFrequency	TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr5:160763709C>T	ENST00000274547.2	-	7	826	c.609G>A	c.(607-609)acG>acA	p.T203T	GABRB2_ENST00000517547.1_Silent_p.T43T|GABRB2_ENST00000353437.6_Silent_p.T203T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000393959.1_Silent_p.T203T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	203					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTCAATTTTCGTTACTCCTG	0.378													3	59					0	0	1	0	0	T	160763709	C	T	160763709	2	4	130	1	0	0	0	0	0	0	0	1	6202	871	31	2		2	GABRB2	5	160763709	Silent	SNP	C	TCGA-TT-A6YO-01A-11D-A35I-08		160763709	20151551	3	2249											
KCNV2	169522	broad.mit.edu	37	9	2718201	2718201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr9:2718201delC	ENST00000382082.3	+	1	700	c.462delC	c.(460-462)gafs	p.D154fs		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	154						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCGACCGCGACCCGGCCGTCT	0.652													2	4	---	---	---	---						-	2718201	C	-	2718201	7	5	130	1	0	1	0	1	0	0	0	0	8139	506	18	0	464	0	KCNV2	9	2718201	Frame_Shift_Del	DEL	C	TCGA-TT-A6YO-01A-11D-A35I-08		2718201	138495230	4	2250											
RTN4RL2	349667	broad.mit.edu	37	11	57243790	57243790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr11:57243790delC	ENST00000335099.3	+	3	986	c.669delC	c.(667-669)ttfs	p.F223fs		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	223					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCGCGGCCTTCCGCGGCCTCA	0.716													2	4	---	---	---	---						-	57243790	C	-	57243790	7	5	130	1	0	1	0	1	0	0	0	0	13784	854	30	0	679	0	RTN4RL2	11	57243790	Frame_Shift_Del	DEL	C	TCGA-TT-A6YO-01A-11D-A35I-08		57243790	77762726	5	2251											
ACE	1636	broad.mit.edu	37	17	61560491	61560491	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr17:61560491C>T	ENST00000290866.4	+	9	1468	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482C|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTTTAGTGGGCGTACCCCCCC	0.552													5	143					0	0	1	0	0	T	61560491	C	T	61560491	3	4	130	1	0	0	0	0	1	0	0	0	136	768	27	1	1478	1	ACE	17	61560491	Missense_Mutation	SNP	C	TCGA-TT-A6YO-01A-11D-A35I-08		61560491	19634719	6	2252											
PPP1R16B	26051	broad.mit.edu	37	20	37464689	37464689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr20:37464689delG	ENST00000299824.1	+	2	310	c.121delG	c.(121-123)agfs	p.E41fs	PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.E41fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	41					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCACAGTACGAGCAGGACTT	0.672													2	4	---	---	---	---						-	37464689	G	-	37464689	7	5	130	1	0	1	0	1	0	0	0	0	12415	1059	37	0	123	0	PPP1R16B	20	37464689	Frame_Shift_Del	DEL	G	TCGA-TT-A6YO-01A-11D-A35I-08		37464689	25560831	7	2253											
LPPR4	0	broad.mit.edu	37	1	99772002	99772002	+	Silent	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr1:99772002C>T	ENST00000370185.3	+	7	2225	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		576							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCCCCGAATCATGCAAGTCA	0.547													6	35					0	0	1	0	0	T	99772002	C	T	99772002	2	4	131	1	0	0	0	0	0	0	0	1	8972	816	29	3		3	LPPR4	1	99772002	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		99772002	149478619	1	2254											
ADAMTS12	81792	broad.mit.edu	37	5	33577007	33577007	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:33577007T>C	ENST00000504830.1	-	19	3459	c.3124A>G	c.(3124-3126)Agc>Ggc	p.S1042G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1042	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGCTTGTGCTCATAGACTCA	0.537										HNSCC(64;0.19)			3	38					0	0	1	0	0	C	33577007	T	C	33577007	3	2	131	1	0	0	0	0	1	0	0	0	256	1551	54	4	1684	4	ADAMTS12	5	33577007	Missense_Mutation	SNP	T	TCGA-TT-A6YP-01A-21D-A35I-08		33577007	147338253	2	2255											
ASZ1	136991	broad.mit.edu	37	7	117025822	117025822	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:117025822T>C	ENST00000284629.2	-	5	544	c.482A>G	c.(481-483)cAc>cGc	p.H161R		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	161					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACCTGGGTGTGACCATCTCG	0.408													3	31					0	0	1	0	0	C	117025822	T	C	117025822	3	2	131	1	0	0	0	0	1	0	0	0	1068	1696	59	4	981	4	ASZ1	7	117025822	Missense_Mutation	SNP	T	TCGA-TT-A6YP-01A-21D-A35I-08		117025822	42112841	3	2256											
PAXIP1	22976	broad.mit.edu	37	7	154767578	154767578	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:154767578C>T	ENST00000404141.1	-	6	1056	c.902G>A	c.(901-903)gGt>gAt	p.G301D	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	301					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAAAATGTTACCTGGGACGGG	0.527													4	18					0	0	1	0	0	T	154767578	C	T	154767578	3	4	131	1	0	0	0	0	1	0	0	0	11534	507	18	3	2371	3	PAXIP1	7	154767578	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	37741756	154767578	4371085	4	2257											
OSBP	5007	broad.mit.edu	37	11	59382787	59382787	+	Silent	SNP	C	C	A			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr11:59382787C>A	ENST00000263847.1	-	1	830	c.351G>T	c.(349-351)ctG>ctT	p.L117L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	117	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTAGTAGCTCAGGAGCCCGT	0.617													3	9					0.004672	0.004672	1	1	0	A	59382787	C	A	59382787	2	1	131	1	0	0	0	0	0	0	0	1	11320	813	29	5		5	OSBP	11	59382787	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		59382787	75623729	5	2258											
ANO2	57101	broad.mit.edu	37	12	5963272	5963272	+	Silent	SNP	G	G	A			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr12:5963272G>A	ENST00000546188.1	-	4	629	c.558C>T	c.(556-558)caC>caT	p.H186H	ANO2_ENST00000356134.5_Silent_p.H186H|ANO2_ENST00000327087.8_Silent_p.H186H			Q9NQ90	ANO2_HUMAN	anoctamin 2	190						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCACGGGGCGTGTATCCGGA	0.468													19	82					0	0	1	0	0	A	5963272	G	A	5963272	2	1	131	1	0	0	0	0	0	0	0	1	691	1136	40	1		1	ANO2	12	5963272	Silent	SNP	G	TCGA-TT-A6YP-01A-21D-A35I-08		5963272	127888623	6	2259											
FBN3	84467	broad.mit.edu	37	19	8130917	8130917	+	Silent	SNP	G	G	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8130917G>C	ENST00000600128.1	-	64	8730	c.8316C>G	c.(8314-8316)acC>acG	p.T2772T	FBN3_ENST00000601739.1_Silent_p.T2772T|FBN3_ENST00000270509.2_Silent_p.T2772T			Q75N90	FBN3_HUMAN	fibrillin 3	2772						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCAGCCGGTAGGTTCCAGGCC	0.677													10	45					0	0	1	0	0	C	8130917	G	C	8130917	2	2	131	1	0	0	0	0	0	0	0	1	5737	987	35	5		5	FBN3	19	8130917	Silent	SNP	G	TCGA-TT-A6YP-01A-21D-A35I-08		8130917	50998066	7	2260											
FBN3	84467	broad.mit.edu	37	19	8181576	8181576	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8181576C>T	ENST00000600128.1	-	29	4108	c.3694G>A	c.(3694-3696)Gac>Aac	p.D1232N	FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N			Q75N90	FBN3_HUMAN	fibrillin 3	1232	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCCTCATGTCTGGCGTGGCC	0.617													15	26					0	0	1	0	0	T	8181576	C	T	8181576	3	4	131	1	0	0	0	0	1	0	0	0	5737	913	32	3	4879	3	FBN3	19	8181576	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	50659	8181576	50947407	8	2261											
ZNF493	284443	broad.mit.edu	37	19	21607388	21607388	+	Missense_Mutation	SNP	C	C	G			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:21607388C>G	ENST00000392288.2	+	4	2036	c.1927C>G	c.(1927-1929)Cac>Gac	p.H643D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H515D	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCGGTCCTCACACCTCGCTGG	0.368													3	36					0	0	1	0	0	G	21607388	C	G	21607388	3	3	131	1	0	0	0	0	1	0	0	0	18001	478	17	5	2004	5	ZNF493	19	21607388	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	13425812	21607388	37521595	9	2262											
ZNF334	55713	broad.mit.edu	37	20	45130892	45130892	+	Silent	SNP	C	C	T	rs140945220		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr20:45130892C>T	ENST00000457685.2	-	6	2295	c.972G>A	c.(970-972)tcG>tcA	p.S324S	ZNF334_ENST00000593880.1_Silent_p.S385S|ZNF334_ENST00000347606.4_Silent_p.S362S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACAAGATACGATTTCTTGC	0.458													4	127					0	0	1	0	0	T	45130892	C	T	45130892	2	4	131	1	0	0	0	0	0	0	0	1	17908	523	19	1		1	ZNF334	20	45130892	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		45130892	17894628	10	2263											
SLC6A9	6536	broad.mit.edu	37	1	44474156	44474156	+	Silent	SNP	C	C	T			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr1:44474156C>T	ENST00000372310.3	-	5	624	c.459G>A	c.(457-459)acG>acA	p.T153T	SLC6A9_ENST00000537678.1_Silent_p.T88T|SLC6A9_ENST00000475075.2_Silent_p.T42T|SLC6A9_ENST00000372306.3_Silent_p.T153T|SLC6A9_ENST00000372307.3_Silent_p.T88T|SLC6A9_ENST00000360584.2_Silent_p.T226T|SLC6A9_ENST00000357730.2_Silent_p.T172T	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	226						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGCAGTCATGCGTGTTCCAGG	0.592													3	48					0	0	1	0	0	T	44474156	C	T	44474156	2	4	132	1	0	0	0	0	0	0	0	1	14746	755	27	1		1	SLC6A9	1	44474156	Silent	SNP	C	TCGA-W2-A7H5-01B-11D-A35I-08		44474156	204776465	1	2264											
OBSCN	84033	broad.mit.edu	37	1	228505606	228505606	+	Silent	SNP	G	G	A			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr1:228505606G>A	ENST00000570156.2	+	64	16808	c.16734G>A	c.(16732-16734)aaG>aaA	p.K5578K	OBSCN_ENST00000284548.11_Silent_p.K4621K|OBSCN_ENST00000366709.4_Silent_p.K1740K|OBSCN_ENST00000422127.1_Silent_p.K4621K|OBSCN_ENST00000366707.4_Silent_p.K2255K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4621					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCACCGAAGCCTGTGCCTC	0.662													5	9					0	0	1	0	0	A	228505606	G	A	228505606	2	1	132	1	0	0	0	0	0	0	0	1	10860	962	34	3		3	OBSCN	1	228505606	Silent	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08	184031450	228505606	20745015	2	2265											
ALMS1	7840	broad.mit.edu	37	2	73675529	73675529	+	Silent	SNP	A	A	G			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr2:73675529A>G	ENST00000264448.6	+	8	1983	c.1872A>G	c.(1870-1872)agA>agG	p.R624R	ALMS1_ENST00000409009.1_Silent_p.R582R|ALMS1_ENST00000377715.1_Silent_p.R624R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	624	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTCACATAGAGAGAAGCCTG	0.468													11	104					0	0	1	0	0	G	73675529	A	G	73675529	2	3	132	1	0	0	0	0	0	0	0	1	531	301	11	4		4	ALMS1	2	73675529	Silent	SNP	A	TCGA-W2-A7H5-01B-11D-A35I-08		73675529	169523844	3	2266											
FGD2	221472	broad.mit.edu	37	6	36995325	36995325	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr6:36995325G>A	ENST00000274963.8	+	15	1897	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	576	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGACCCCCTCGTGCTCTATGT	0.662													5	69					0	0	1	0	0	A	36995325	G	A	36995325	3	1	132	1	0	0	0	0	1	0	0	0	5866	1145	40	1	1784	1	FGD2	6	36995325	Missense_Mutation	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08		36995325	134119742	4	2267											
DNAH8	1769	broad.mit.edu	37	6	38840747	38840747	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr6:38840747G>A	ENST00000359357.3	+	49	6906	c.6652G>A	c.(6652-6654)Gtt>Att	p.V2218I	DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I					dynein, axonemal, heavy chain 8									p.V2218I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTAAATTCCGTTTTGGATGA	0.383													13	74					0	0	1	0	0	A	38840747	G	A	38840747	3	1	132	1	0	0	0	0	1	0	0	0	4634	1145	40	1	6838	1	DNAH8	6	38840747	Missense_Mutation	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08	1845422	38840747	132274320	5	2268											
MDK	4192	broad.mit.edu	37	11	46404253	46404253	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr11:46404253C>A	ENST00000405308.2	+	4	790	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	MDK_ENST00000395565.1_Missense_Mutation_p.R121S|MDK_ENST00000395569.4_Missense_Mutation_p.R65S|MDK_ENST00000395566.4_Missense_Mutation_p.R121S|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000407067.1_Missense_Mutation_p.R121S|MDK_ENST00000359803.3_Missense_Mutation_p.R121S	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	121					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGAGACCATCCGCGTCACCAA	0.652													3	37					6.4e-05	6.93333e-05	1	1	0	A	46404253	C	A	46404253	3	1	132	1	0	0	0	0	1	0	0	0	9461	652	23	5	371	5	MDK	11	46404253	Missense_Mutation	SNP	C	TCGA-W2-A7H5-01B-11D-A35I-08		46404253	88602263	6	2269											
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532													3	5	---	---	---	---						-	11085942	CAC	-	11085940	6	5	132	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-W2-A7H5-01B-11D-A35I-08		11085940	37043955	7	2270											
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			6	220					0	0	1	0	0	A	140994960	G	A	140994960	2	1	132	1	0	0	0	0	0	0	0	1	9230	1364	48	3		3	MAGEC1	23	140994960	Silent	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08		140994960	14275600	8	2271											
CHD5	26038	broad.mit.edu	37	1	6202616	6202616	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:6202616C>T	ENST00000262450.3	-	14	2192	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	698					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGCAGTGTGCCGCCTGTGGA	0.642													4	54					0	0	1	0	0	T	6202616	C	T	6202616	3	4	133	1	0	0	0	0	1	0	0	0	3350	739	26	3	3883	3	CHD5	1	6202616	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08		6202616	243048005	1	2272											
GON4L	54856	broad.mit.edu	37	1	155723052	155723052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:155723052C>A	ENST00000437809.1	-	29	5907	c.5785G>T	c.(5785-5787)Gag>Tag	p.E1929*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*|GON4L_ENST00000368331.1_Nonsense_Mutation_p.E1929*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1929					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGGTGGCCTCAGTGCTCTCC	0.587													11	60					3.07112e-06	3.07112e-06	1	1	0	A	155723052	C	A	155723052	4	1	133	1	0	0	0	0	0	1	0	0	6611	835	29	5	953	5	GON4L	1	155723052	Nonsense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08	149520436	155723052	93527569	2	2273											
ATP6V1G3	127124	broad.mit.edu	37	1	198498248	198498248	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:198498248A>G	ENST00000367381.1	-	4	269	c.164T>C	c.(163-165)aTg>aCg	p.M55T	ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	49					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCTCTCTGCATTCTGTACTG	0.313													4	34					0	0	1	0	0	G	198498248	A	G	198498248	3	3	133	1	0	0	0	0	1	0	0	0	1186	217	8	4	218	4	ATP6V1G3	1	198498248	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	42775196	198498248	50752373	3	2274											
GPR128	84873	broad.mit.edu	37	3	100362211	100362211	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:100362211C>T	ENST00000273352.3	+	7	1068	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	267					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAGAAAATGCGGTGGGGCCT	0.403													4	130					0	0	1	0	0	T	100362211	C	T	100362211	3	4	133	1	0	0	0	0	1	0	0	0	6681	768	27	1	826	1	GPR128	3	100362211	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08		100362211	97660219	4	2275											
COL6A6	131873	broad.mit.edu	37	3	130282279	130282279	+	Silent	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:130282279G>A	ENST00000358511.6	+	2	463	c.432G>A	c.(430-432)gaG>gaA	p.E144E	COL6A6_ENST00000453409.2_Silent_p.E144E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	144	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGAGTCTGAGGATAATGTGG	0.498													18	10					0	0	1	0	0	A	130282279	G	A	130282279	2	1	133	1	0	0	0	0	0	0	0	1	3726	991	35	3		3	COL6A6	3	130282279	Silent	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08	29920068	130282279	67740151	5	2276											
PHF17	0	broad.mit.edu	37	4	129778604	129778604	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:129778604A>G	ENST00000226319.6	+	8	1256	c.976A>G	c.(976-978)Ata>Gta	p.I326V	PHF17_ENST00000511647.1_Missense_Mutation_p.I326V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000512960.1_Missense_Mutation_p.I326V|PHF17_ENST00000452328.2_Missense_Mutation_p.I314V	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		326					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGGCCTCTATACAGGTAAT	0.537													66	107					0	0	1	0	0	G	129778604	A	G	129778604	3	3	133	1	0	0	0	0	1	0	0	0	11876	449	16	4	1002	4	PHF17	4	129778604	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		129778604	61375672	6	2277											
CDC20B	166979	broad.mit.edu	37	5	54420759	54420759	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:54420759A>G	ENST00000296733.1	-	9	1261	c.1087T>C	c.(1087-1089)Tgg>Cgg	p.W363R	CDC20B_ENST00000381375.2_Missense_Mutation_p.W363R|CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000334206.5_3'UTR	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	363										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCCGGTGACCACTTCAGAGCA	0.572													6	114					0	0	1	0	0	G	54420759	A	G	54420759	3	3	133	1	0	0	0	0	1	0	0	0	3082	159	6	4	488	4	CDC20B	5	54420759	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		54420759	126494501	7	2278											
ALDH7A1	501	broad.mit.edu	37	5	125903982	125903982	+	Silent	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:125903982T>C	ENST00000409134.3	-	9	1059	c.840A>G	c.(838-840)aaA>aaG	p.K280K	ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Silent_p.K280K	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	280					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GGCCCACCTGTTTTCCCACCT	0.488													30	72					0	0	1	0	0	C	125903982	T	C	125903982	2	2	133	1	0	0	0	0	0	0	0	1	501	1722	60	4		4	ALDH7A1	5	125903982	Silent	SNP	T	TCGA-W2-A7H7-01A-11D-A35I-08	71483223	125903982	55011278	8	2279											
LPL	4023	broad.mit.edu	37	8	19811698	19811698	+	Silent	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr8:19811698A>G	ENST00000311322.8	+	5	1079	c.609A>G	c.(607-609)gcA>gcG	p.A203A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	203			A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CTGATGATGCAGATTTTGTAG	0.478													11	76					0	0	1	0	0	G	19811698	A	G	19811698	2	3	133	1	0	0	0	0	0	0	0	1	8966	175	7	4		4	LPL	8	19811698	Silent	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		19811698	126552324	9	2280											
DYRK2	8445	broad.mit.edu	37	12	68051587	68051587	+	Silent	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr12:68051587G>A	ENST00000344096.3	+	3	1313	c.900G>A	c.(898-900)acG>acA	p.T300T	DYRK2_ENST00000393555.3_Silent_p.T227T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	300	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCTGCATGACGTTTGAGCTGC	0.478													4	159					0	0	1	0	0	A	68051587	G	A	68051587	2	1	133	1	0	0	0	0	0	0	0	1	4882	1132	40	1		1	DYRK2	12	68051587	Silent	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		68051587	65800308	10	2281											
GPC5	2262	broad.mit.edu	37	13	92346010	92346010	+	Silent	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr13:92346010T>C	ENST00000377067.3	+	3	1267	c.895T>C	c.(895-897)Ttg>Ctg	p.L299L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	299						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCCGGTCGTTGGAAGAACT	0.502													11	77					0	0	1	0	0	C	92346010	T	C	92346010	2	2	133	1	0	0	0	0	0	0	0	1	6641	1722	60	4		4	GPC5	13	92346010	Silent	SNP	T	TCGA-W2-A7H7-01A-11D-A35I-08		92346010	22823868	11	2282											
SLC2A4	6517	broad.mit.edu	37	17	7189833	7189833	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:7189833G>A	ENST00000317370.8	+	11	1683	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCTGAAACTCGAGGCCGGACG	0.537													5	293					0	0	1	0	0	A	7189833	G	A	7189833	3	1	133	1	0	0	0	0	1	0	0	0	14601	1058	37	2	1457	2	SLC2A4	17	7189833	Missense_Mutation	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		7189833	74005377	12	2283											
MLLT6	4302	broad.mit.edu	37	17	36871916	36871916	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:36871916A>T	ENST00000325718.7	+	9	962	c.871A>T	c.(871-873)Acc>Tcc	p.T291S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	291					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CACGCAGGAGACCTCTGAGAG	0.562			T	MLL	AL								3	25					0	0	1	0	0	T	36871916	A	T	36871916	3	4	133	1	0	0	0	0	1	0	0	0	9678	275	10	5	905	5	MLLT6	17	36871916	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	29682083	36871916	44323294	13	2284											
MIF4GD	57409	broad.mit.edu	37	17	73266262	73266262	+	Silent	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:73266262A>G	ENST00000577542.1	-	2	277	c.15T>C	c.(13-15)agT>agC	p.S5S	MIF4GD_ENST00000579119.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000325102.8_Silent_p.S5S|MIF4GD_ENST00000580571.1_Silent_p.S5S			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	5	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACTCCTCTCTACTGGGCTCCC	0.587													4	220					0	0	1	0	0	G	73266262	A	G	73266262	2	3	133	1	0	0	0	0	0	0	0	1	9632	388	14	4		4	MIF4GD	17	73266262	Silent	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	36394346	73266262	7928948	14	2285											
KDM4B	23030	broad.mit.edu	37	19	5144146	5144146	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:5144146A>G	ENST00000159111.4	+	19	2937	c.2719A>G	c.(2719-2721)Aag>Gag	p.K907E	KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	907					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCAAGCACAAGTCGGGGGG	0.711													22	37					0	0	1	0	0	G	5144146	A	G	5144146	3	3	133	1	0	0	0	0	1	0	0	0	8173	131	5	4	2785	4	KDM4B	19	5144146	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		5144146	53984837	15	2286											
ZNF776	284309	broad.mit.edu	37	19	58265270	58265270	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:58265270C>T	ENST00000317178.5	+	3	1035	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCAGGGAGTTCGCACTGGAAA	0.423													6	61					0	0	1	0	0	T	58265270	C	T	58265270	3	4	133	1	0	0	0	0	1	0	0	0	18198	884	31	2	782	2	ZNF776	19	58265270	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08	53121124	58265270	863713	16	2287											
CENPB	1059	broad.mit.edu	37	20	3765453	3765453	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr20:3765453A>T	ENST00000379751.4	-	1	1884	c.1678T>A	c.(1678-1680)Tcc>Acc	p.S560T		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	560					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ATGGGGAAGGAGGTCAGGTAC	0.562													5	37					0	0	1	0	0	T	3765453	A	T	3765453	3	4	133	1	0	0	0	0	1	0	0	0	3249	304	11	5	125	5	CENPB	20	3765453	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		3765453	59260067	17	2288											
TUBA8	51807	broad.mit.edu	37	22	18609712	18609712	+	Missense_Mutation	SNP	G	G	T	rs151102020	by1000genomes	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr22:18609712G>T	ENST00000330423.3	+	4	1040	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L	TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	323					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCGGGGCGACGTGGTGCCCAA	0.557													22	78					1.40151e-16	1.44984e-16	1	1	0	T	18609712	G	T	18609712	3	4	133	1	0	0	0	0	1	0	0	0	16812	1145	40	5	981	5	TUBA8	22	18609712	Missense_Mutation	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		18609712	32694854	18	2289											
MCOLN2	255231	broad.mit.edu	37	1	85431293	85431293	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:85431293C>A	ENST00000370608.3	-	2	243	c.176G>T	c.(175-177)aGa>aTa	p.R59I	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	59						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCTGGCGTCTGGCTCGGTA	0.413													3	29					0.115264	0.115264	1	1	0	A	85431293	C	A	85431293	3	1	134	1	0	0	0	0	1	0	0	0	9446	913	32	5	1576	5	MCOLN2	1	85431293	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		85431293	163819328	1	2290											
GJA5	2702	broad.mit.edu	37	1	147230307	147230307	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:147230307G>A	ENST00000271348.2	-	2	1201	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.A347V	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	347					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTGCTGCTGGCCTTACTAAG	0.542													5	70					0	0	1	0	0	A	147230307	G	A	147230307	3	1	134	1	0	0	0	0	1	0	0	0	6446	1203	42	3	40	3	GJA5	1	147230307	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	61799014	147230307	102020314	2	2291											
ADCY10	55811	broad.mit.edu	37	1	167794084	167794084	+	Missense_Mutation	SNP	C	C	T	rs139094168		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:167794084C>T	ENST00000367848.1	-	27	3981	c.3484G>A	c.(3484-3486)Gct>Act	p.A1162T	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1254T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1254					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAGGTAAGCCTTAATGATC	0.463													25	52					0	0	1	0	0	T	167794084	C	T	167794084	3	4	134	1	0	0	0	0	1	0	0	0	292	739	26	3	1100	3	ADCY10	1	167794084	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	20563777	167794084	81456537	3	2292											
LTBP1	4052	broad.mit.edu	37	2	33413856	33413856	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:33413856G>A	ENST00000404816.2	+	7	1992	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I	LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	547					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATTCCTCACGTCTACCCCGT	0.537													36	61					0	0	1	0	0	A	33413856	G	A	33413856	3	1	134	1	0	0	0	0	1	0	0	0	9118	1145	40	1	1720	1	LTBP1	2	33413856	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		33413856	209785517	4	2293											
GPR148	344561	broad.mit.edu	37	2	131486787	131486787	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:131486787C>T	ENST00000309926.4	+	1	145	c.63C>T	c.(61-63)ctC>ctT	p.L21L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	21						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGATCCAGCTCATCAGCAAGA	0.612													14	98					0	0	1	0	0	T	131486787	C	T	131486787	2	4	134	1	0	0	0	0	0	0	0	1	6693	813	29	3		3	GPR148	2	131486787	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	98072931	131486787	111712586	5	2294											
PLXNB1	5364	broad.mit.edu	37	3	48445926	48445926	+	Silent	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr3:48445926T>C	ENST00000358536.4	-	38	6644	c.6375A>G	c.(6373-6375)gcA>gcG	p.A2125A	PLXNB1_ENST00000296440.6_Silent_p.A2125A|PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000358459.4_Silent_p.A1942A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2125					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGCAGCTGCAATCTGCT	0.587													3	23					0	0	1	0	0	C	48445926	T	C	48445926	2	2	134	1	0	0	0	0	0	0	0	1	12171	1567	55	4		4	PLXNB1	3	48445926	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		48445926	149576504	6	2295											
TBC1D1	23216	broad.mit.edu	37	4	38051409	38051409	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr4:38051409C>T	ENST00000261439.4	+	11	2155	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TBC1D1_ENST00000508802.1_Silent_p.F600F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	600						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGAGTCACTTCCCCATCGAAT	0.602													32	60					0	0	1	0	0	T	38051409	C	T	38051409	2	4	134	1	0	0	0	0	0	0	0	1	15654	854	30	3		3	TBC1D1	4	38051409	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		38051409	153102867	7	2296											
HAVCR1	26762	broad.mit.edu	37	5	156482298	156482298	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr5:156482298G>A	ENST00000339252.3	-	2	825	c.293C>T	c.(292-294)tCt>tTt	p.S98F	HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	98	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACTGTCAGACACAGCTGT	0.453													8	83					0	0	1	0	0	A	156482298	G	A	156482298	3	1	134	1	0	0	0	0	1	0	0	0	7014	942	33	3	829	3	HAVCR1	5	156482298	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		156482298	24432962	8	2297											
CASP2	835	broad.mit.edu	37	7	142985577	142985577	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr7:142985577C>T	ENST00000310447.5	+	1	270	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CASP2_ENST00000392925.2_Missense_Mutation_p.S10F	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	10					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGGTCTTGGTCCACCTTCCAG	0.677													12	20					0	0	1	0	0	T	142985577	C	T	142985577	3	4	134	1	0	0	0	0	1	0	0	0	2689	855	30	3	31	3	CASP2	7	142985577	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		142985577	16153086	9	2298											
TNKS	8658	broad.mit.edu	37	8	9627729	9627729	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr8:9627729A>G	ENST00000310430.6	+	26	3880	c.3854A>G	c.(3853-3855)aAt>aGt	p.N1285S	TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1285	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGAGCGTCAATGGGCTGGCA	0.473													16	33					0	0	1	0	0	G	9627729	A	G	9627729	3	3	134	1	0	0	0	0	1	0	0	0	16379	101	4	4	3956	4	TNKS	8	9627729	Missense_Mutation	SNP	A	TCGA-W2-A7HA-01B-11D-A35I-08		9627729	136736293	10	2299											
RET	5979	broad.mit.edu	37	10	43609939	43609939	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr10:43609939G>T	ENST00000355710.3	+	11	2123	c.1891G>T	c.(1891-1893)Gac>Tac	p.D631Y	RET_ENST00000340058.5_Missense_Mutation_p.D631Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	631			D -> G (in thyroid carcinoma; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.L629_D631>H(2)|p.D627_L633>E(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCACTGTGCGACGAGCTGTG	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				17	24					2.37509e-13	2.48065e-13	1	1	0	T	43609939	G	T	43609939	3	4	134	1	0	0	0	0	1	0	0	0	13287	1058	37	5	1933	5	RET	10	43609939	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		43609939	91924808	11	2300											
ARL2	402	broad.mit.edu	37	11	64781694	64781694	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:64781694C>T	ENST00000246747.4	+	1	110	c.15C>T	c.(13-15)acC>acT	p.T5T	SNX15_ENST00000301886.3_3'UTR|ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	5					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGCTCCTGACCATTCTGAAGA	0.672													8	8					0	0	1	0	0	T	64781694	C	T	64781694	2	4	134	1	0	0	0	0	0	0	0	1	932	581	21	3		3	ARL2	11	64781694	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		64781694	70224822	12	2301											
TBC1D10C	374403	broad.mit.edu	37	11	67177213	67177213	+	Missense_Mutation	SNP	C	C	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:67177213C>G	ENST00000312390.5	+	10	1358	c.1329C>G	c.(1327-1329)gaC>gaG	p.D443E	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.D443E	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	443	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTCCTGGACACCCGCTTCT	0.647													5	17					0	0	1	0	0	G	67177213	C	G	67177213	3	3	134	1	0	0	0	0	1	0	0	0	15657	477	17	5	1363	5	TBC1D10C	11	67177213	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	2395519	67177213	67829303	13	2302											
CARD18	59082	broad.mit.edu	37	11	105009793	105009793	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:105009793C>T	ENST00000530950.1	-	2	19	c.20G>A	c.(19-21)cGt>cAt	p.R7H	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						TCTCTTTTTACGCAAGAGTTG	0.378													6	55					0	0	1	0	0	T	105009793	C	T	105009793	3	4	134	1	0	0	0	0	1	0	0	0	2667	536	19	1	256	1	CARD18	11	105009793	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	37832580	105009793	29996723	14	2303											
HSP90AA1	3320	broad.mit.edu	37	14	102551717	102551717	+	Missense_Mutation	SNP	T	T	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr14:102551717T>G	ENST00000334701.7	-	5	1228	c.947A>C	c.(946-948)cAa>cCa	p.Q316P	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.Q194P|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	194					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTACTCAGTTTGGTCTTCTTT	0.343													21	32					0	0	1	0	0	G	102551717	T	G	102551717	3	3	134	1	0	0	0	0	1	0	0	0	7444	1812	63	5	1649	5	HSP90AA1	14	102551717	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		102551717	4797823	15	2304											
THBS1	7057	broad.mit.edu	37	15	39885298	39885298	+	Silent	SNP	C	C	T	rs139289744	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr15:39885298C>T	ENST00000260356.5	+	18	3030	c.2865C>T	c.(2863-2865)acC>acT	p.T955T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	955					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCAGTGAGACCGATTTCCGCC	0.502													5	36					0	0	1	0	0	T	39885298	C	T	39885298	2	4	134	1	0	0	0	0	0	0	0	1	15913	639	23	2		2	THBS1	15	39885298	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		39885298	62646094	16	2305											
MSLN	10232	broad.mit.edu	37	16	816649	816649	+	Silent	SNP	T	T	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:816649T>G	ENST00000382862.3	+	13	1331	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	MSLN_ENST00000545450.2_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000563941.1_Intron	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	412					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				ACAAGGCTCCTCGGCGGCCCC	0.637													17	115					0	0	1	0	0	G	816649	T	G	816649	2	3	134	1	0	0	0	0	0	0	0	1	9929	1538	54	5		5	MSLN	16	816649	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		816649	89538104	17	2306											
MMP2	0	broad.mit.edu	37	16	55527178	55527178	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:55527178G>A	ENST00000219070.4	+	9	1954	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	482	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCTCAGATCCGTGGTGAGATC	0.532													48	105					0	0	1	0	0	A	55527178	G	A	55527178	3	1	134	1	0	0	0	0	1	0	0	0	9706	1145	40	1	1486	1	MMP2	16	55527178	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	54710529	55527178	34827575	18	2307											
EFNB3	1949	broad.mit.edu	37	17	7612004	7612004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:7612004delA	ENST00000226091.2	+	4	957	c.560delA	c.(559-561)gafs	p.E187fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	187					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATGCCCATGGAAAGAGACCGA	0.632													2	4	---	---	---	---						-	7612004	A	-	7612004	7	5	134	1	0	1	0	1	0	0	0	0	4983	246	9	0	574	0	EFNB3	17	7612004	Frame_Shift_Del	DEL	A	TCGA-W2-A7HA-01B-11D-A35I-08		7612004	73583206	19	2308											
CCL13	6357	broad.mit.edu	37	17	32685095	32685095	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:32685095G>C	ENST00000225844.2	+	3	317	c.242G>C	c.(241-243)tGg>tCg	p.W81S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	81					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAGGAGAAGTGGGTCCAGAAT	0.493													16	22					0	0	1	0	0	C	32685095	G	C	32685095	3	2	134	1	0	0	0	0	1	0	0	0	2904	1357	47	5	252	5	CCL13	17	32685095	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	25073091	32685095	48510115	20	2309											
WNT3	7473	broad.mit.edu	37	17	44847186	44847186	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:44847186G>A	ENST00000225512.5	-	3	713	c.551C>T	c.(550-552)tCg>tTg	p.S184L		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	184					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTTCATGGCCGAGCGCGCGTC	0.687													3	43					0	0	1	0	0	A	44847186	G	A	44847186	3	1	134	1	0	0	0	0	1	0	0	0	17448	1059	37	2	524	2	WNT3	17	44847186	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	12162091	44847186	36348024	21	2310											
HELZ	9931	broad.mit.edu	37	17	65074569	65074569	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:65074569C>T	ENST00000358691.5	-	33	5794	c.5628G>A	c.(5626-5628)gcG>gcA	p.A1876A	HELZ_ENST00000580168.1_Silent_p.A1877A	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGCCGACTCCGCGATCTGCT	0.612													84	129					0	0	1	0	0	T	65074569	C	T	65074569	2	4	134	1	0	0	0	0	0	0	0	1	7090	639	23	2		2	HELZ	17	65074569	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	20227383	65074569	16120641	22	2311											
FBXO15	201456	broad.mit.edu	37	18	71740825	71740825	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr18:71740825G>A	ENST00000269500.5	-	10	1511	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.Y468Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	392										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CCGCATCAACGTAGTCCACGT	0.502													5	183					0	0	1	0	0	A	71740825	G	A	71740825	2	1	134	1	0	0	0	0	0	0	0	1	5761	1140	40	1		1	FBXO15	18	71740825	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		71740825	6336423	23	2312											
PSG7	5676	broad.mit.edu	37	19	43433862	43433862	+	RNA	SNP	G	G	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr19:43433862G>T	ENST00000446844.3	-	0	530				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGGAGGGTTTGGGAGTCTCCA	0.512													4	165					1.23904e-05	1.26598e-05	1	1	0	T	43433862	G	T	43433862	1	4	134	0	1	0	0	0	0	0	0	0	12709	1335	47	5		5	PSG7	19	43433862	RNA	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		43433862	15695121	24	2313											
SYT3	84258	broad.mit.edu	37	19	51135613	51135613	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr19:51135613G>A	ENST00000338916.4	-	2	1237	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S|SYT3_ENST00000600079.1_Missense_Mutation_p.P202S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	202						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCACTGGGGGGCAGCAGGAGC	0.652													18	31					0	0	1	0	0	A	51135613	G	A	51135613	3	1	134	1	0	0	0	0	1	0	0	0	15532	1203	42	3	1196	3	SYT3	19	51135613	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	7701751	51135613	7993370	25	2314											
ZNF334	55713	broad.mit.edu	37	20	45130415	45130415	+	Silent	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr20:45130415T>C	ENST00000457685.2	-	6	2772	c.1449A>G	c.(1447-1449)gaA>gaG	p.E483E	ZNF334_ENST00000593880.1_Silent_p.E544E|ZNF334_ENST00000347606.4_Silent_p.E521E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGCCCATGTTCACTACACT	0.403													5	230					0	0	1	0	0	C	45130415	T	C	45130415	2	2	134	1	0	0	0	0	0	0	0	1	17908	1722	60	4		4	ZNF334	20	45130415	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		45130415	17895105	26	2315											
TRAPPC10	7109	broad.mit.edu	37	21	45518255	45518255	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr21:45518255G>A	ENST00000291574.4	+	21	3361	c.3186G>A	c.(3184-3186)aaG>aaA	p.K1062K		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1062					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACAACGTGAAGGCTGAGATCT	0.502													11	79					0	0	1	0	0	A	45518255	G	A	45518255	2	1	134	1	0	0	0	0	0	0	0	1	16518	991	35	3		3	TRAPPC10	21	45518255	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		45518255	2611640	27	2316											
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)del	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65													2	4	---	---	---	---						-	21674922	CTC	-	21674920	7	5	134	1	0	1	0	1	0	0	0	0	8430	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-W2-A7HA-01B-11D-A35I-08		21674920	133595640	28	2317											
TAB3	257397	broad.mit.edu	37	X	30872733	30872733	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:30872733T>C	ENST00000378933.1	-	3	1226	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C|TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	350	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTATGGAAGATAGGCTACTGA	0.433													3	58					0	0	1	0	0	C	30872733	T	C	30872733	3	2	134	1	0	0	0	0	1	0	0	0	15554	1406	49	4	1113	4	TAB3	23	30872733	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08	9197813	30872733	124397827	29	2318											
BRWD3	254065	broad.mit.edu	37	X	79999587	79999587	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:79999587T>C	ENST00000373275.4	-	8	973	c.757A>G	c.(757-759)Act>Gct	p.T253A		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	253										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGTGCACAAGTTCGAAGACAC	0.403													15	9					0	0	1	0	0	C	79999587	T	C	79999587	3	2	134	1	0	0	0	0	1	0	0	0	1528	1725	60	4	4787	4	BRWD3	23	79999587	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08	49126854	79999587	75270973	30	2319											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													3	65					0	0	1	0	0	A	150156360	G	A	150156360	2	1	134	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	70156773	150156360	5114200	31	2320											
HTT	3064	broad.mit.edu	37	4	3237362	3237362	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr4:3237362G>T	ENST00000355072.5	+	63	8787	c.8642G>T	c.(8641-8643)gGc>gTc	p.G2881V		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2881					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCCTCAGAGGCCTGGAGCGC	0.597													10	23					4.68919e-08	4.96502e-08	1	1	0	T	3237362	G	T	3237362	3	4	135	1	0	0	0	0	1	0	0	0	7501	1203	42	5	8892	5	HTT	4	3237362	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		3237362	187916914	1	2321											
AFF4	27125	broad.mit.edu	37	5	132272835	132272835	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr5:132272835C>T	ENST00000265343.5	-	2	426	c.47G>A	c.(46-48)aGg>aAg	p.R16K	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.R16K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	16					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATTCCGCCTTTCCCGTTC	0.433													5	35					0	0	1	0	0	T	132272835	C	T	132272835	3	4	135	1	0	0	0	0	1	0	0	0	358	681	24	3	3524	3	AFF4	5	132272835	Missense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		132272835	48642425	2	2322											
HIST1H2BC	8347	broad.mit.edu	37	6	26123939	26123939	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr6:26123939G>T	ENST00000314332.5	-	1	199	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562													50	115					3.21987e-24	3.62236e-24	1	1	0	T	26123939	G	T	26123939	3	4	135	1	0	0	0	0	1	0	0	0	7183	942	33	5	190	5	HIST1H2BC	6	26123939	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		26123939	144991128	3	2323											
DBF4	10926	broad.mit.edu	37	7	87514300	87514302	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr7:87514300_87514302delGAA	ENST00000265728.1	+	3	730_732	c.226_228delGAA	c.(226-228)del	p.E77del		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	77	BRCT 1.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTAGCGAGTTGAAGAATTTCTCA	0.35													10	41	---	---	---	---						-	87514302	GAA	-	87514300	7	5	135	1	0	1	0	1	0	0	0	0	4272	1291	45	0	236	0	DBF4	7	87514300	In_Frame_Del	DEL	GAA	TCGA-W2-A7HB-01A-11D-A35I-08		87514300	71624363	4	2324											
FAM167A	83648	broad.mit.edu	37	8	11282013	11282013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:11282013C>A	ENST00000284486.4	-	3	1052	c.514G>T	c.(514-516)Gag>Tag	p.E172*	FAM167A_ENST00000528897.1_Nonsense_Mutation_p.E172*|FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|C8orf12_ENST00000529305.1_Intron	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	172										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCCCGCTCCTCCAGCTCGTAG	0.577													4	47					1	1	1	1	0	A	11282013	C	A	11282013	4	1	135	1	0	0	0	0	0	1	0	0	5513	864	30	5	134	5	FAM167A	8	11282013	Nonsense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		11282013	135082009	5	2325											
MED30	90390	broad.mit.edu	37	8	118533175	118533175	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:118533175G>C	ENST00000297347.3	+	1	224	c.60G>C	c.(58-60)caG>caC	p.Q20H	MED30_ENST00000522839.1_Missense_Mutation_p.Q20H	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	20					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCGGGCCCCAGGCTCAGCAGG	0.706													5	24					0	0	1	0	0	C	118533175	G	C	118533175	3	2	135	1	0	0	0	0	1	0	0	0	9498	991	35	5	62	5	MED30	8	118533175	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08	107251162	118533175	27830847	6	2326											
BARHL1	56751	broad.mit.edu	37	9	135458232	135458232	+	Silent	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr9:135458232C>T	ENST00000263610.2	+	1	661	c.48C>T	c.(46-48)cgC>cgT	p.R16R	BARHL1_ENST00000542090.1_Silent_p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCTCCCACCGCGCGGGCAGCC	0.657													24	62					0	0	1	0	0	T	135458232	C	T	135458232	2	4	135	1	0	0	0	0	0	0	0	1	1311	755	27	1		1	BARHL1	9	135458232	Silent	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		135458232	5755199	7	2327											
KDM5A	5927	broad.mit.edu	37	12	464375	464375	+	Silent	SNP	G	G	A			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr12:464375G>A	ENST00000399788.2	-	7	1181	c.819C>T	c.(817-819)gaC>gaT	p.D273D	KDM5A_ENST00000382815.4_Silent_p.D273D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	273					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTAAATGCGTCTGACCTGT	0.373			T	NUP98	AML								6	67					0	0	1	0	0	A	464375	G	A	464375	2	1	135	1	0	0	0	0	0	0	0	1	8176	1136	40	1		1	KDM5A	12	464375	Silent	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		464375	133387520	8	2328											
MAPK6	5597	broad.mit.edu	37	15	52339183	52339183	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr15:52339183C>T	ENST00000261845.5	+	2	1333	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	176	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTCTTGCACGGATCATGGA	0.383													24	64					0	0	1	0	0	T	52339183	C	T	52339183	3	4	135	1	0	0	0	0	1	0	0	0	9331	527	19	1	528	1	MAPK6	15	52339183	Missense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		52339183	50192209	9	2329											
PSG7	5676	broad.mit.edu	37	19	43439887	43439887	+	RNA	SNP	T	T	A			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr19:43439887T>A	ENST00000446844.3	-	0	188				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493													5	182					0	0	1	0	0	A	43439887	T	A	43439887	1	1	135	0	1	0	0	0	0	0	0	0	12709	1567	55	5		5	PSG7	19	43439887	RNA	SNP	T	TCGA-W2-A7HB-01A-11D-A35I-08		43439887	15689096	10	2330											
ATP1B4	23439	broad.mit.edu	37	X	119505020	119505020	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chrX:119505020G>C	ENST00000218008.3	+	4	574	c.517G>C	c.(517-519)Gac>Cac	p.D173H	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	173					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCTGAACCCGACACTTGGCA	0.428													11	52					0	0	1	0	0	C	119505020	G	C	119505020	3	2	135	1	0	0	0	0	1	0	0	0	1134	1058	37	5	531	5	ATP1B4	23	119505020	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		119505020	35765540	11	2331											
MYSM1	114803	broad.mit.edu	37	1	59147514	59147514	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:59147514C>T	ENST00000472487.1	-	8	1241	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	401	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTTAGCTTGGCGCCCCTCAAA	0.323													3	49					0	0	1	0	0	T	59147514	C	T	59147514	3	4	136	1	0	0	0	0	1	0	0	0	10149	768	27	1	1336	1	MYSM1	1	59147514	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		59147514	190103107	1	2332											
ZNF672	79894	broad.mit.edu	37	1	249142441	249142441	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:249142441G>A	ENST00000306562.3	+	4	1714	c.968G>A	c.(967-969)cGc>cAc	p.R323H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTCAGCGACCGCTCGGACCTC	0.682													2	0					0	0	1	0	0	A	249142441	G	A	249142441	3	1	136	1	0	0	0	0	1	0	0	0	18136	1087	38	1	970	1	ZNF672	1	249142441	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	189994927	249142441	108180	2	2333											
PXDN	7837	broad.mit.edu	37	2	1652633	1652633	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:1652633G>A	ENST00000252804.4	-	17	2969	c.2919C>T	c.(2917-2919)gcC>gcT	p.A973A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	973					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGGTCCCCGGCCAGGAAGC	0.692													2	0					0	0	1	0	0	A	1652633	G	A	1652633	2	1	136	1	0	0	0	0	0	0	0	1	12899	1103	39	2		2	PXDN	2	1652633	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		1652633	241546740	3	2334											
KIF3C	3797	broad.mit.edu	37	2	26204068	26204068	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:26204068C>T	ENST00000264712.3	-	1	1298	c.719G>A	c.(718-720)gGc>gAc	p.G240D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	240	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGCTTGCCCACTCGGAT	0.627													3	46					0	0	1	0	0	T	26204068	C	T	26204068	3	4	136	1	0	0	0	0	1	0	0	0	8344	739	26	3	1694	3	KIF3C	2	26204068	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	24551435	26204068	216995305	4	2335											
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572													6	909					0	0	1	0	0	T	85554507	C	T	85554507	2	4	136	1	0	0	0	0	0	0	0	1	15896	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	59350439	85554507	157644866	5	2336											
STK17B	9262	broad.mit.edu	37	2	197002362	197002362	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:197002362A>G	ENST00000263955.4	-	8	1214	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	310	Poly-Ser.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GTTTGAGAGGAACTGGAAGTT	0.413													25	76					0	0	1	0	0	G	197002362	A	G	197002362	3	3	136	1	0	0	0	0	1	0	0	0	15347	246	9	4	194	4	STK17B	2	197002362	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	111447855	197002362	46197011	6	2337											
BZW1	9689	broad.mit.edu	37	2	201681960	201681960	+	Silent	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:201681960A>G	ENST00000409600.1	+	6	989	c.534A>G	c.(532-534)aaA>aaG	p.K178K	BZW1_ENST00000409226.1_Silent_p.K182K|BZW1_ENST00000452790.2_Silent_p.K210K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATTTGGTTAAAGAAGGTAATC	0.398													22	61					0	0	1	0	0	G	201681960	A	G	201681960	2	3	136	1	0	0	0	0	0	0	0	1	1581	69	3	4		4	BZW1	2	201681960	Silent	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	4679598	201681960	41517413	7	2338											
BARD1	580	broad.mit.edu	37	2	215593563	215593563	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:215593563G>A	ENST00000260947.4	-	11	2305	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	BARD1_ENST00000449967.2_3'UTR|BARD1_ENST00000432456.1_Missense_Mutation_p.A95V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	724	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGGGTCTCGCATGGTATGC	0.498									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	32					0	0	1	0	0	A	215593563	G	A	215593563	3	1	136	1	0	0	0	0	1	0	0	0	1310	1087	38	1	166	1	BARD1	2	215593563	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	13911603	215593563	27605810	8	2339											
PRICKLE2	166336	broad.mit.edu	37	3	64085509	64085509	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:64085509C>T	ENST00000295902.6	-	8	2338	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	585						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGCTTCTCAGACACATTC	0.562													4	160					0	0	1	0	0	T	64085509	C	T	64085509	3	4	136	1	0	0	0	0	1	0	0	0	12539	835	29	3	785	3	PRICKLE2	3	64085509	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		64085509	133936921	9	2340											
ALPK1	80216	broad.mit.edu	37	4	113362081	113362081	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr4:113362081A>T	ENST00000458497.1	+	15	3826	c.3547A>T	c.(3547-3549)Acc>Tcc	p.T1183S	ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1183	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGTTGGGTAACCGGTAATGG	0.378													27	65					0	0	1	0	0	T	113362081	A	T	113362081	3	4	136	1	0	0	0	0	1	0	0	0	540	43	2	5	3597	5	ALPK1	4	113362081	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08		113362081	77792195	10	2341											
C5orf28	64417	broad.mit.edu	37	5	43446327	43446327	+	Silent	SNP	G	G	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr5:43446327G>C	ENST00000500337.2	-	5	976	c.645C>G	c.(643-645)gtC>gtG	p.V215V	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000510130.1_Silent_p.V113V|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000397080.3_Silent_p.V215V			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	215						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTGTACCTCAGACATCAATAC	0.333													30	58					0	0	1	0	0	C	43446327	G	C	43446327	2	2	136	1	0	0	0	0	0	0	0	1	2304	929	33	5		5	C5orf28	5	43446327	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		43446327	137468933	11	2342											
DSE	29940	broad.mit.edu	37	6	116720670	116720670	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:116720670T>C	ENST00000331677.3	+	3	701	c.257T>C	c.(256-258)cTc>cCc	p.L86P	DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	86					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGGAATACCTCCCTCCCTGG	0.582													3	30					0	0	1	0	0	C	116720670	T	C	116720670	3	2	136	1	0	0	0	0	1	0	0	0	4800	1551	54	4	259	4	DSE	6	116720670	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		116720670	54394397	12	2343											
LPA	4018	broad.mit.edu	37	6	161007643	161007643	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:161007643A>T	ENST00000447678.1	-	26	4087	c.3967T>A	c.(3967-3969)Tgc>Agc	p.C1323S	LPA_ENST00000316300.5_Missense_Mutation_p.C1323S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3831	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATTCCTGCAGTAGTTCCTG	0.483													30	24					0	0	1	0	0	T	161007643	A	T	161007643	3	4	136	1	0	0	0	0	1	0	0	0	8948	188	7	5	2215	5	LPA	6	161007643	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	44286973	161007643	10107424	13	2344											
PKD1L1	168507	broad.mit.edu	37	7	47898432	47898432	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:47898432C>A	ENST00000289672.2	-	27	4251	c.4201G>T	c.(4201-4203)Gct>Tct	p.A1401S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1401	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCTTGAGCAAGGAGTGCC	0.488													16	38					1.62849e-17	1.71652e-17	1	1	0	A	47898432	C	A	47898432	3	1	136	1	0	0	0	0	1	0	0	0	12012	710	25	5	4472	5	PKD1L1	7	47898432	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		47898432	111240231	14	2345											
SLC26A3	1811	broad.mit.edu	37	7	107414431	107414431	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:107414431G>A	ENST00000340010.5	-	17	2125	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	647	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATGAGGCTGTGGAGGCTGA	0.433													37	44					0	0	1	0	0	A	107414431	G	A	107414431	2	1	136	1	0	0	0	0	0	0	0	1	14573	1368	48	3		3	SLC26A3	7	107414431	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	59515999	107414431	51724232	15	2346											
RNF19A	25897	broad.mit.edu	37	8	101281047	101281047	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr8:101281047A>G	ENST00000519449.1	-	6	1473	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	386					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAATAATCATTGCAGGAAT	0.403													42	79					0	0	1	0	0	G	101281047	A	G	101281047	3	3	136	1	0	0	0	0	1	0	0	0	13522	217	8	4	1383	4	RNF19A	8	101281047	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08		101281047	45082975	16	2347											
TLN1	7094	broad.mit.edu	37	9	35700005	35700005	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:35700005T>C	ENST00000314888.9	-	50	7087	c.6734A>G	c.(6733-6735)aAt>aGt	p.N2245S	TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2245					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGTAGCCATTGGCACACTC	0.567													24	37					0	0	1	0	0	C	35700005	T	C	35700005	3	2	136	1	0	0	0	0	1	0	0	0	16007	1493	52	4	923	4	TLN1	9	35700005	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		35700005	105513426	17	2348											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			33	50					0	0	1	0	0	C	533874	T	C	533874	3	2	136	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		533874	134472642	18	2349											
ATG2B	55102	broad.mit.edu	37	14	96798922	96798922	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr14:96798922C>T	ENST00000359933.4	-	9	2171	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	426										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGGGGGGTCCCCAAGGGGTG	0.398													29	62					0	0	1	0	0	T	96798922	C	T	96798922	2	4	136	1	0	0	0	0	0	0	0	1	1093	610	22	3		3	ATG2B	14	96798922	Silent	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		96798922	10550618	19	2350											
GTF3C1	2975	broad.mit.edu	37	16	27523078	27523078	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr16:27523078T>C	ENST00000356183.4	-	7	1133	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	373						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGAGGTCGTAGGTCTGTGT	0.507													26	64					0	0	1	0	0	C	27523078	T	C	27523078	3	2	136	1	0	0	0	0	1	0	0	0	6913	1638	57	4	5335	4	GTF3C1	16	27523078	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		27523078	62831675	20	2351											
SLC25A39	51629	broad.mit.edu	37	17	42399848	42399848	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:42399848C>A	ENST00000225308.8	-	5	413	c.239G>T	c.(238-240)tGc>tTc	p.C80F	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F|SLC25A39_ENST00000377095.5_Missense_Mutation_p.C88F|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	88					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCATTTGGGCACAGGTACAG	0.587													8	37					0.00307968	0.00316072	1	1	0	A	42399848	C	A	42399848	3	1	136	1	0	0	0	0	1	0	0	0	14558	710	25	5	848	5	SLC25A39	17	42399848	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		42399848	38795362	21	2352											
FASN	2194	broad.mit.edu	37	17	80050662	80050662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:80050662delG	ENST00000306749.2	-	7	1023	c.805delC	c.(805-807)agfs	p.Q269fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	269	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTGCTCCTGGATATCCCCT	0.677													2	4	---	---	---	---						-	80050662	G	-	80050662	7	5	136	1	0	1	0	1	0	0	0	0	5716	1357	47	0	6878	0	FASN	17	80050662	Frame_Shift_Del	DEL	G	TCGA-W2-A7HC-01A-11D-A35I-08	37650814	80050662	1144548	22	2353											
OR7C2	26658	broad.mit.edu	37	19	15052535	15052535	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:15052535C>T	ENST00000248072.3	+	1	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACGACTGTCCCAAAGATGCT	0.458													6	69					0	0	1	0	0	T	15052535	C	T	15052535	3	4	136	1	0	0	0	0	1	0	0	0	11265	623	22	3	237	3	OR7C2	19	15052535	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		15052535	44076448	23	2354											
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443													6	322					0	0	1	0	0	T	43528993	C	T	43528993	3	4	136	1	0	0	0	0	1	0	0	0	12703	739	26	3	743	3	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	28476458	43528993	15599990	24	2355											
MATN4	8785	broad.mit.edu	37	20	43933245	43933245	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr20:43933245C>T	ENST00000537548.1	-	4	510	c.266G>A	c.(265-267)cGc>cAc	p.R89H	MATN4_ENST00000360607.5_Missense_Mutation_p.R89H|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H			O95460	MATN4_HUMAN	matrilin 4	89	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGAACGCGCGGAGAGGGAA	0.642													5	9					0	0	1	0	0	T	43933245	C	T	43933245	3	4	136	1	0	0	0	0	1	0	0	0	9386	768	27	1	1511	1	MATN4	20	43933245	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		43933245	19092275	25	2356											
PLXNB2	23654	broad.mit.edu	37	22	50718132	50718132	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:50718132G>A	ENST00000449103.1	-	27	4456	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V			O15031	PLXB2_HUMAN	plexin B2	1439					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTACCGCATCCACCGG	0.617													4	110					0	0	1	0	0	A	50718132	G	A	50718132	3	1	136	1	0	0	0	0	1	0	0	0	12172	1087	38	1	1244	1	PLXNB2	22	50718132	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		50718132	586434	26	2357											
NXT2	55916	broad.mit.edu	37	X	108784843	108784843	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chrX:108784843T>C	ENST00000218004.1	+	4	509	c.407T>C	c.(406-408)gTt>gCt	p.V136A	NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000372106.1_Missense_Mutation_p.V81A|NXT2_ENST00000372107.1_Missense_Mutation_p.V53A	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	81	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGCCAACCAGTTCATGGTAAG	0.393													34	13					0	0	1	0	0	C	108784843	T	C	108784843	3	2	136	1	0	0	0	0	1	0	0	0	10843	1725	60	4	421	4	NXT2	23	108784843	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		108784843	46485717	27	2358											
PHC3	80012	broad.mit.edu	37	3	169847313	169847313	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr3:169847313G>T	ENST00000494943.1	-	8	979	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	PHC3_ENST00000495893.1_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	304					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTTATTAGAGAATGAGGCTG	0.343													12	34					3.27435e-08	3.39129e-08	1	1	0	T	169847313	G	T	169847313	3	4	137	1	0	0	0	0	1	0	0	0	11866	942	33	5	2072	5	PHC3	3	169847313	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		169847313	28175117	1	2359											
SCGB3A2	117156	broad.mit.edu	37	5	147261032	147261032	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:147261032G>A	ENST00000296694.4	+	2	172	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	SCGB3A2_ENST00000514688.1_3'UTR|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_5'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	27						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAACAAAGTGCCCCTTCC	0.473													7	85					0	0	1	0	0	A	147261032	G	A	147261032	3	1	137	1	0	0	0	0	1	0	0	0	13955	1029	36	3	85	3	SCGB3A2	5	147261032	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		147261032	33654228	2	2360											
RUFY1	80230	broad.mit.edu	37	5	178994549	178994549	+	Silent	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:178994549T>C	ENST00000377001.2	+	4	690	c.690T>C	c.(688-690)aaT>aaC	p.N230N	RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000319449.4_Silent_p.N230N|RUFY1_ENST00000393438.2_Silent_p.N122N			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	230	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTATAGACAATAAACATCTCT	0.418										HNSCC(44;0.11)			17	21					0	0	1	0	0	C	178994549	T	C	178994549	2	2	137	1	0	0	0	0	0	0	0	1	13790	1403	49	4		4	RUFY1	5	178994549	Silent	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	31733517	178994549	1920711	3	2361											
SYNE1	23345	broad.mit.edu	37	6	152590365	152590365	+	Silent	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:152590365G>A	ENST00000367255.5	-	99	19231	c.18630C>T	c.(18628-18630)ccC>ccT	p.P6210P	SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000265368.4_Silent_p.P6210P|SYNE1_ENST00000423061.1_Silent_p.P6139P|SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000448038.1_Silent_p.P6139P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6210					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGACGCCGGGGCTCTGCG	0.547										HNSCC(10;0.0054)			29	48					0	0	1	0	0	A	152590365	G	A	152590365	2	1	137	1	0	0	0	0	0	0	0	1	15502	1103	39	2		2	SYNE1	6	152590365	Silent	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		152590365	18524702	4	2362											
MAP3K4	4216	broad.mit.edu	37	6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423													5	141					0	0	1	0	0	G	161529848	A	G	161529848	3	3	137	1	0	0	0	0	1	0	0	0	9302	14	1	4	4279	4	MAP3K4	6	161529848	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08	8939483	161529848	9585219	5	2363											
DPP6	1804	broad.mit.edu	37	7	154684108	154684108	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr7:154684108T>C	ENST00000404039.1	+	26	2911	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000377770.3_Missense_Mutation_p.I839T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	839					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACCGGTCCATCATCAACTTC	0.512													19	27					0	0	1	0	0	C	154684108	T	C	154684108	3	2	137	1	0	0	0	0	1	0	0	0	4756	1435	50	4	2734	4	DPP6	7	154684108	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		154684108	4454555	6	2364											
DMBT1	1755	broad.mit.edu	37	10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr10:124402858G>A	ENST00000338354.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647													19	18					0	0	1	0	0	A	124402858	G	A	124402858	3	1	137	1	0	0	0	0	1	0	0	0	4605	1145	40	1	7396	1	DMBT1	10	124402858	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		124402858	11131889	7	2365											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			31	31					0	0	1	0	0	C	533874	T	C	533874	3	2	137	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		533874	134472642	8	2366											
ELP4	26610	broad.mit.edu	37	11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	rs3026403		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CATGATGGCCGGAGGCAAGAA	0.498													3	38					0	0	1	0	0	A	31805046	G	A	31805046	3	1	137	1	0	0	0	0	1	0	0	0	5110	1117	39	2	1287	2	ELP4	11	31805046	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08	31271172	31805046	103201470	9	2367											
AHNAK	79026	broad.mit.edu	37	11	62297449	62297449	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:62297449T>C	ENST00000378024.4	-	5	4714	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1480					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAGCTTTTATCTCTCCTT	0.423													92	120					0	0	1	0	0	C	62297449	T	C	62297449	3	2	137	1	0	0	0	0	1	0	0	0	411	1744	61	4	13352	4	AHNAK	11	62297449	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	30492403	62297449	72709067	10	2368											
MARK2	2011	broad.mit.edu	37	11	63669773	63669773	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:63669773A>G	ENST00000402010.2	+	12	1784	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000509502.2_Missense_Mutation_p.N369S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000508192.1_Missense_Mutation_p.N402S|MARK2_ENST00000413835.2_Missense_Mutation_p.N402S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	402					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGTCGGCCAATCCCAAGCAG	0.592													19	31					0	0	1	0	0	G	63669773	A	G	63669773	3	3	137	1	0	0	0	0	1	0	0	0	9363	101	4	4	1251	4	MARK2	11	63669773	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08	1372324	63669773	71336743	11	2369											
TMEM126B	55863	broad.mit.edu	37	11	85342776	85342776	+	Missense_Mutation	SNP	C	C	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:85342776C>G	ENST00000534341.1	+	2	133	c.127C>G	c.(127-129)Cta>Gta	p.L43V	TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000358867.6_Missense_Mutation_p.L43V			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	43						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGTCCTTCTCTAGAAGATGC	0.343													6	53					0	0	1	0	0	G	85342776	C	G	85342776	3	3	137	1	0	0	0	0	1	0	0	0	16099	912	32	5	39	5	TMEM126B	11	85342776	Missense_Mutation	SNP	C	TCGA-W2-A7HD-01A-11D-A35I-08	21673003	85342776	49663740	12	2370											
USP28	57646	broad.mit.edu	37	11	113699965	113699965	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:113699965T>C	ENST00000003302.4	-	10	1081	c.1013A>G	c.(1012-1014)gAt>gGt	p.D338G	USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	338					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAGCTCAACATCACCCTCCAC	0.478													29	21					0	0	1	0	0	C	113699965	T	C	113699965	3	2	137	1	0	0	0	0	1	0	0	0	17118	1435	50	4	2284	4	USP28	11	113699965	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	28357189	113699965	21306551	13	2371											
ACAD10	80724	broad.mit.edu	37	12	112165863	112165863	+	Missense_Mutation	SNP	A	A	G	rs140075311		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr12:112165863A>G	ENST00000455480.2	+	10	1429	c.1252A>G	c.(1252-1254)Ata>Gta	p.I418V	ACAD10_ENST00000313698.4_Missense_Mutation_p.I387V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000392636.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	387							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGACGAGCCATATACACTGC	0.542													5	167					0	0	1	0	0	G	112165863	A	G	112165863	3	3	137	1	0	0	0	0	1	0	0	0	108	217	8	4	1286	4	ACAD10	12	112165863	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08		112165863	21686032	14	2372											
ATP9B	374868	broad.mit.edu	37	18	76953241	76953241	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr18:76953241G>A	ENST00000426216.2	+	9	949	c.932G>A	c.(931-933)aGt>aAt	p.S311N	ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	311					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACATTCACAGTTTCGAAGGC	0.333													4	87					0	0	1	0	0	A	76953241	G	A	76953241	3	1	137	1	0	0	0	0	1	0	0	0	1197	1029	36	3	966	3	ATP9B	18	76953241	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		76953241	1124007	15	2373											
CXorf58	254158	broad.mit.edu	37	X	23956667	23956667	+	Silent	SNP	T	T	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chrX:23956667T>A	ENST00000379211.3	+	8	1338	c.789T>A	c.(787-789)ggT>ggA	p.G263G		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	263										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCTAGGGGTCCATACTTAA	0.333													4	95					0	0	1	0	0	A	23956667	T	A	23956667	2	1	137	1	0	0	0	0	0	0	0	1	4137	1654	58	5		5	CXorf58	23	23956667	Silent	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		23956667	131313893	16	2374											
IP6K2	51447	broad.mit.edu	37	3	48732374	48732374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr3:48732374delG	ENST00000431721.2	-	3	753	c.516delC	c.(514-516)ccfs	p.P172fs	IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000449610.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000453202.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000417896.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000443964.1_Frame_Shift_Del_p.P176fs|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000446860.1_Frame_Shift_Del_p.P175fs	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	0					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCTGGGCTGAGGGCCaggagg	0.532													2	4	---	---	---	---						-	48732374	G	-	48732374	7	5	138	1	0	1	0	1	0	0	0	0	7833	987	35	0	1302	0	IP6K2	3	48732374	Frame_Shift_Del	DEL	G	TCGA-W2-A7HE-01A-11D-A35I-08		48732374	149290056	1	2375											
HPS3	84343	broad.mit.edu	37	3	148884979	148884979	+	Silent	SNP	G	G	A			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr3:148884979G>A	ENST00000296051.2	+	15	2888	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	HPS3_ENST00000460120.1_Silent_p.P751P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	916						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGATGCCCGGAGGCAGTCA	0.423									Hermansky-Pudlak syndrome				3	41					0	0	1	0	0	A	148884979	G	A	148884979	2	1	138	1	0	0	0	0	0	0	0	1	7381	1103	39	2		2	HPS3	3	148884979	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08	100152605	148884979	49137451	2	2376											
PCDHA10	0	broad.mit.edu	37	5	140236812	140236812	+	Silent	SNP	G	G	A	rs148283153		TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567													8	47					0	0	1	0	0	A	140236812	G	A	140236812	2	1	138	1	0	0	0	0	0	0	0	1	11567	1132	40	1		1	PCDHA10	5	140236812	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08		140236812	40678448	3	2377											
SOX4	6659	broad.mit.edu	37	6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(499-504)gggcgg>ggGGCgcgg	p.167_168GR>GAR	SOX4_ENST00000543472.1_In_Frame_Ins_p.167_168GR>GAR	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	167					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738													4	7	---	---	---	---						GGC	21595267	-	GGC	21595266	7	5	138	1	0	1	1	0	0	0	0	0	15007	1219	43	0	503	0	SOX4	6	21595266	In_Frame_Ins	INS	-	TCGA-W2-A7HE-01A-11D-A35I-08		21595266	149519801	4	2378											
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	18					0	0	1	0	0	G	45390445	A	G	45390445	2	3	138	1	0	0	0	0	0	0	0	1	13800	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08	23795179	45390445	125724622	5	2379											
OR2A2	442361	broad.mit.edu	37	7	143807113	143807113	+	Silent	SNP	G	G	A	rs141248378	by1000genomes	TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr7:143807113G>A	ENST00000408979.2	+	1	507	c.438G>A	c.(436-438)acG>acA	p.T146T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T146T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGTTCTCACGTCCTGGTCAT	0.517													22	55					0	0	1	0	0	A	143807113	G	A	143807113	2	1	138	1	0	0	0	0	0	0	0	1	11025	1132	40	1		1	OR2A2	7	143807113	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08		143807113	15331550	6	2380											
NUDT5	11164	broad.mit.edu	37	10	12226494	12226495	+	Splice_Site	INS	-	-	A			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr10:12226494_12226495insA	ENST00000378937.3	-	4	261_262	c.170_splice	c.e4+1	p.LN56_splice	NUDT5_ENST00000378940.3_Intron|NUDT5_ENST00000378952.3_Intron|NUDT5_ENST00000491614.1_Intron|NUDT5_ENST00000537776.1_Intron|NUDT5_ENST00000378927.3_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	44					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GGCACGTACCTCAAAATTAGCA	0.317													2	4	---	---	---	---						A	12226495	-	A	12226494	8	5	138	1	0	1	1	0	0	0	1	0	10790	1566	54	0		0	NUDT5	10	12226494	Splice_Site	INS	-	TCGA-W2-A7HE-01A-11D-A35I-08		12226494	123308253	7	2381											
SLC6A5	9152	broad.mit.edu	37	11	20622825	20622825	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr11:20622825delC	ENST00000525748.1	+	2	427	c.154delC	c.(154-156)ccfs	p.P52fs		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	52					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCACGTGTGCCCAGGTCCGC	0.741													2	4	---	---	---	---						-	20622825	C	-	20622825	7	5	138	1	0	1	0	1	0	0	0	0	14742	739	26	0	160	0	SLC6A5	11	20622825	Frame_Shift_Del	DEL	C	TCGA-W2-A7HE-01A-11D-A35I-08		20622825	114383691	8	2382											
LRRC28	123355	broad.mit.edu	37	15	99903465	99903465	+	Missense_Mutation	SNP	C	C	A	rs147857587		TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr15:99903465C>A	ENST00000301981.3	+	9	1266	c.1026C>A	c.(1024-1026)caC>caA	p.H342Q	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.H273Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	342										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CAGGGCTGCACCAGTGGTAAT	0.567													4	42					1.23904e-05	1.23904e-05	1	1	0	A	99903465	C	A	99903465	3	1	138	1	0	0	0	0	1	0	0	0	9027	506	18	5	1056	5	LRRC28	15	99903465	Missense_Mutation	SNP	C	TCGA-W2-A7HE-01A-11D-A35I-08		99903465	2627927	9	2383											
RNF213	57674	broad.mit.edu	37	17	78333905	78333905	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr17:78333905A>T	ENST00000582970.1	+	38	11242	c.11099A>T	c.(11098-11100)aAc>aTc	p.N3700I	RNF213_ENST00000336301.6_Missense_Mutation_p.N1773I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.N3749I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCACATGAACCTTTCCGAG	0.488													5	14					0	0	1	0	0	T	78333905	A	T	78333905	3	4	138	1	0	0	0	0	1	0	0	0	13529	43	2	5	11564	5	RNF213	17	78333905	Missense_Mutation	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08		78333905	2861305	10	2384											
RAB39B	116442	broad.mit.edu	37	X	154493536	154493536	+	Missense_Mutation	SNP	A	A	C			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chrX:154493536A>C	ENST00000369454.3	-	1	338	c.38T>G	c.(37-39)gTc>gGc	p.V13G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	13					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.V13D(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCCCGATGACAATGAGCCG	0.667													3	32					0	0	1	0	0	C	154493536	A	C	154493536	3	2	138	1	0	0	0	0	1	0	0	0	12982	275	10	5	611	5	RAB39B	23	154493536	Missense_Mutation	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08		154493536	777024	11	2385											
AIM2	9447	broad.mit.edu	37	1	159033464	159033464	+	Splice_Site	SNP	C	C	A			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr1:159033464C>A	ENST00000368130.4	-	5	1105	c.816_splice	c.e5-1	p.V273_splice	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	273	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTCTGTTACCTATAAAAGA	0.383													4	97					1	1	1	1	0	A	159033464	C	A	159033464	5	1	139	1	0	0	0	0	0	0	1	0	429	521	18	5	222	5	AIM2	1	159033464	Splice_Site	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		159033464	90217157	1	2386											
FAM162A	26355	broad.mit.edu	37	3	122103139	122103139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr3:122103139delG	ENST00000477892.1	+	1	111	c.27delG	c.(25-27)ctfs	p.L9fs	FAM162A_ENST00000232125.5_5'UTR|FAM162A_ENST00000469967.1_Frame_Shift_Del_p.L9fs	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	9						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GTCTGCGCCTGGCAGCAGGTG	0.692													2	4	---	---	---	---						-	122103139	G	-	122103139	7	5	139	1	0	1	0	1	0	0	0	0	5504	1335	47	0	29	0	FAM162A	3	122103139	Frame_Shift_Del	DEL	G	TCGA-W2-A7HF-01A-11D-A35I-08		122103139	75919291	2	2387											
PCDHGA1	0	broad.mit.edu	37	5	140712578	140712578	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr5:140712578C>T	ENST00000517417.1	+	1	2327	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A776V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGCGGACACACTC	0.527													4	198					0	0	1	0	0	T	140712578	C	T	140712578	3	4	139	1	0	0	0	0	1	0	0	0	11597	768	27	1	2329	1	PCDHGA1	5	140712578	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		140712578	40202682	3	2388											
TAS2R60	338398	broad.mit.edu	37	7	143140670	143140670	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr7:143140670T>C	ENST00000332690.1	+	1	125	c.125T>C	c.(124-126)cTg>cCg	p.L42P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	42					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACTGCTGCTCTGGGCGTGGAG	0.502													14	137					0	0	1	0	0	C	143140670	T	C	143140670	3	2	139	1	0	0	0	0	1	0	0	0	15642	1580	55	4	127	4	TAS2R60	7	143140670	Missense_Mutation	SNP	T	TCGA-W2-A7HF-01A-11D-A35I-08		143140670	15997993	4	2389											
CSGALNACT1	55790	broad.mit.edu	37	8	19263389	19263389	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr8:19263389C>T	ENST00000454498.2	-	10	2514	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E501K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	501					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGGATGCCTCGTTCATGGCC	0.552													6	82					0	0	1	0	0	T	19263389	C	T	19263389	3	4	139	1	0	0	0	0	1	0	0	0	3963	893	31	2	101	2	CSGALNACT1	8	19263389	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		19263389	127100633	5	2390											
FAM166A	401565	broad.mit.edu	37	9	140139634	140139634	+	Missense_Mutation	SNP	C	C	G			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr9:140139634C>G	ENST00000344774.4	-	4	613	c.559G>C	c.(559-561)Gcc>Ccc	p.A187P	FAM166A_ENST00000388932.2_Missense_Mutation_p.A187P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	187										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGCGGCGGGCGGGGGGTGGG	0.662													5	38					0	0	1	0	0	G	140139634	C	G	140139634	3	3	139	1	0	0	0	0	1	0	0	0	5511	768	27	5	410	5	FAM166A	9	140139634	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		140139634	1073797	6	2391											
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627													4	242					0	0	1	0	0	A	1629156	T	A	1629156	3	1	139	1	0	0	0	0	1	0	0	0	8602	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-W2-A7HF-01A-11D-A35I-08		1629156	133377360	7	2392											
SACS	26278	broad.mit.edu	37	13	23909416	23909416	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr13:23909416C>A	ENST00000382298.3	-	10	9187	c.8599G>T	c.(8599-8601)Gcc>Tcc	p.A2867S	SACS_ENST00000382292.3_Missense_Mutation_p.A2867S|SACS_ENST00000402364.1_Missense_Mutation_p.A2117S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2867					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAGAAGGCCCTATGGGGT	0.453													27	34					3.73148e-12	3.90917e-12	1	1	0	A	23909416	C	A	23909416	3	1	139	1	0	0	0	0	1	0	0	0	13856	739	26	5	5144	5	SACS	13	23909416	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		23909416	91260462	8	2393											
SMARCA4	6597	broad.mit.edu	37	19	11136124	11136124	+	Missense_Mutation	SNP	G	G	C	rs1801514		TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr19:11136124G>C	ENST00000358026.2	+	22	3392	c.3108G>C	c.(3106-3108)atG>atC	p.M1036I	SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1036I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1036			M -> I (in dbSNP:rs1801514).		chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGACCCTGATGAACACCATCA	0.637			"F, N, Mis"		NSCLC								4	34					0	0	1	0	0	C	11136124	G	C	11136124	3	2	139	1	0	0	0	0	1	0	0	0	14824	1290	45	5	3190	5	SMARCA4	19	11136124	Missense_Mutation	SNP	G	TCGA-W2-A7HF-01A-11D-A35I-08		11136124	47992859	9	2394											
NINL	22981	broad.mit.edu	37	20	25459587	25459587	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr20:25459587G>A	ENST00000278886.6	-	16	2246	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	NINL_ENST00000422516.1_Missense_Mutation_p.R725W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	725					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGATGCCGCAGGGCCAGG	0.592													3	36					0	0	1	0	0	A	25459587	G	A	25459587	3	1	139	1	0	0	0	0	1	0	0	0	10467	1086	38	1	2011	1	NINL	20	25459587	Missense_Mutation	SNP	G	TCGA-W2-A7HF-01A-11D-A35I-08		25459587	37565933	10	2395											
SSX3	10214	broad.mit.edu	37	X	48206947	48206947	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chrX:48206947C>A	ENST00000298396.2	-	7	611	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	SSX3_ENST00000376895.1_Missense_Mutation_p.D99Y	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						AGTTACTCATCATCTTCCTCA	0.502													125	159					9.55279e-52	1.05081e-51	1	1	0	A	48206947	C	A	48206947	3	1	139	1	0	0	0	0	1	0	0	0	15261	826	29	5	11	5	SSX3	23	48206947	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		48206947	107063613	11	2396											
POLR1A	25885	broad.mit.edu	37	2	86276075	86276075	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:86276075T>C	ENST00000263857.6	-	18	2944	c.2566A>G	c.(2566-2568)Agg>Ggg	p.R856G	POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	856					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTAAAATCCCTCTGGTCCTTG	0.473													22	55					0	0	1	0	0	C	86276075	T	C	86276075	3	2	140	1	0	0	0	0	1	0	0	0	12257	1550	54	4	2664	4	POLR1A	2	86276075	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		86276075	156923298	1	2397											
SCN2A	6326	broad.mit.edu	37	2	166172011	166172011	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:166172011A>G	ENST00000357398.3	+	11	1704	c.1414A>G	c.(1414-1416)Aga>Gga	p.R472G	SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G|SCN2A_ENST00000375437.2_Missense_Mutation_p.R472G|SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	472					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCTGAATCAAGAGACTTCAG	0.413													22	35					0	0	1	0	0	G	166172011	A	G	166172011	3	3	140	1	0	0	0	0	1	0	0	0	13970	64	3	4	1548	4	SCN2A	2	166172011	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08	79895936	166172011	77027362	2	2398											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								22	50					0	0	1	0	0	A	209113113	G	A	209113113	3	1	140	1	0	0	0	0	1	0	0	0	7538	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08	42941102	209113113	34086260	3	2399											
CC2D2A	57545	broad.mit.edu	37	4	15513007	15513007	+	Missense_Mutation	SNP	A	A	C	rs112367037		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:15513007A>C	ENST00000424120.1	+	8	932	c.678A>C	c.(676-678)gaA>gaC	p.E226D	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	226	Poly-Glu.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGAAGGGGAAGAAGAAGAAC	0.448													9	8					0	0	1	0	0	C	15513007	A	C	15513007	3	2	140	1	0	0	0	0	1	0	0	0	2746	69	3	5	907	5	CC2D2A	4	15513007	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		15513007	175641269	4	2400											
PAQR3	152559	broad.mit.edu	37	4	79860329	79860329	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:79860329T>C	ENST00000512733.1	-	1	263	c.50A>G	c.(49-51)tAc>tGc	p.Y17C	PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C|PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	17						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCAGTACTGGTAGCTGCCCAG	0.672													25	52					0	0	1	0	0	C	79860329	T	C	79860329	3	2	140	1	0	0	0	0	1	0	0	0	11483	1638	57	4	909	4	PAQR3	4	79860329	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08	64347322	79860329	111293947	5	2401											
NEDD9	4739	broad.mit.edu	37	6	11213930	11213930	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:11213930C>T	ENST00000379446.5	-	2	209	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	15	SH3.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CACTCTGGGACATTGTCATAT	0.517													20	40					0	0	1	0	0	T	11213930	C	T	11213930	3	4	140	1	0	0	0	0	1	0	0	0	10360	478	17	3	2555	3	NEDD9	6	11213930	Missense_Mutation	SNP	C	TCGA-W2-A7HH-01A-11D-A35I-08		11213930	159901137	6	2402											
VARS	7407	broad.mit.edu	37	6	31762953	31762953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:31762953delG	ENST00000375663.3	-	2	482	c.42delC	c.(40-42)ccfs	p.P14fs	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	14					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCGGAGGCTGGGGAAGGCAT	0.612													2	4	---	---	---	---						-	31762953	G	-	31762953	7	5	140	1	0	1	0	1	0	0	0	0	17183	1335	47	0	3868	0	VARS	6	31762953	Frame_Shift_Del	DEL	G	TCGA-W2-A7HH-01A-11D-A35I-08	20549023	31762953	139352114	7	2403											
GSTA3	2940	broad.mit.edu	37	6	52762673	52762673	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:52762673A>T	ENST00000211122.3	-	6	561	c.496T>A	c.(496-498)Tat>Aat	p.Y166N	GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	166	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCTTCCACATAGTAGAGAAGT	0.512													5	88					0	0	1	0	0	T	52762673	A	T	52762673	3	4	140	1	0	0	0	0	1	0	0	0	6873	420	15	5	180	5	GSTA3	6	52762673	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08	20999720	52762673	118352394	8	2404											
EPHB4	2050	broad.mit.edu	37	7	100411306	100411306	+	Missense_Mutation	SNP	G	G	A	rs60537976		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr7:100411306G>A	ENST00000358173.3	-	10	2192	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	575					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.S575L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGTTTGTCCGAATATTCTGC	0.493													5	291					0	0	1	0	0	A	100411306	G	A	100411306	3	1	140	1	0	0	0	0	1	0	0	0	5205	1059	37	2	1271	2	EPHB4	7	100411306	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		100411306	58727357	9	2405											
RNLS	55328	broad.mit.edu	37	10	90122340	90122340	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:90122340G>T	ENST00000371947.3	-	5	2008	c.669C>A	c.(667-669)ttC>ttA	p.F223L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L|RNLS_ENST00000331772.4_Missense_Mutation_p.F223L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	223						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATGGAGACGAAGCGTATGC	0.438													27	43					2.48779e-11	2.56805e-11	1	1	0	T	90122340	G	T	90122340	3	4	140	1	0	0	0	0	1	0	0	0	13557	1049	37	5	447	5	RNLS	10	90122340	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		90122340	45412407	10	2406											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													2	4	---	---	---	---						T	118396278	-	T	118396277	6	5	140	0	1	1	1	0	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-W2-A7HH-01A-11D-A35I-08	28273937	118396277	17138470	11	2407											
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													4	9	---	---	---	---						-	14063263	A	-	14063263	6	5	140	0	1	1	0	1	0	0	0	0	15138	261	9	0		0	SPON1	11	14063263	RNA	DEL	A	TCGA-W2-A7HH-01A-11D-A35I-08		14063263	120943253	12	2408											
OAS2	0	broad.mit.edu	37	12	113442843	113442843	+	Silent	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr12:113442843G>A	ENST00000392583.2	+	7	1491	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	OAS2_ENST00000342315.4_Silent_p.R428R|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	428	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACGAGCGGCACAAAATCG	0.502													3	37					0	0	1	0	0	A	113442843	G	A	113442843	2	1	140	1	0	0	0	0	0	0	0	1	10848	1190	42	3		3	OAS2	12	113442843	Silent	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		113442843	20409052	13	2409											
CTCF	10664	broad.mit.edu	37	16	67645506	67645506	+	Missense_Mutation	SNP	T	T	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr16:67645506T>G	ENST00000264010.4	+	3	1215	c.771T>G	c.(769-771)atT>atG	p.I257M	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	257					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACAAAAATTAAAAAGAAAG	0.373													20	30					0	0	1	0	0	G	67645506	T	G	67645506	3	3	140	1	0	0	0	0	1	0	0	0	4024	1742	61	5	773	5	CTCF	16	67645506	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		67645506	22709247	14	2410											
FUT5	2527	broad.mit.edu	37	19	5867557	5867557	+	Silent	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:5867557A>G	ENST00000252675.5	-	5	742	c.180T>C	c.(178-180)aaT>aaC	p.N60N	FUT5_ENST00000588525.1_Silent_p.N60N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	60					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCGGGACCCATTGGGAGCCC	0.632													12	24					0	0	1	0	0	G	5867557	A	G	5867557	2	3	140	1	0	0	0	0	0	0	0	1	6142	214	8	4		4	FUT5	19	5867557	Silent	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		5867557	53261426	15	2411											
GMIP	51291	broad.mit.edu	37	19	19747568	19747568	+	Silent	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:19747568G>A	ENST00000203556.4	-	13	1412	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	GMIP_ENST00000445806.2_Silent_p.S422S|GMIP_ENST00000587238.1_Silent_p.S425S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	425					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGCCACCCACGCTGTCCACAT	0.637													20	35					0	0	1	0	0	A	19747568	G	A	19747568	2	1	140	1	0	0	0	0	0	0	0	1	6533	1078	38	1		1	GMIP	19	19747568	Silent	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08	13880011	19747568	39381415	16	2412											
TFAP2C	7022	broad.mit.edu	37	20	55206271	55206271	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr20:55206271A>G	ENST00000201031.2	+	2	302	c.59A>G	c.(58-60)gAc>gGc	p.D20G	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	20					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GATCGCCACGACGGGAGCAGC	0.662													12	45					0	0	1	0	0	G	55206271	A	G	55206271	3	3	140	1	0	0	0	0	1	0	0	0	15849	275	10	4	65	4	TFAP2C	20	55206271	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		55206271	7819249	17	2413											
RPGR	6103	broad.mit.edu	37	X	38146339	38146339	+	Missense_Mutation	SNP	T	T	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chrX:38146339T>G	ENST00000378505.2	-	15	2089	c.1913A>C	c.(1912-1914)gAa>gCa	p.E638A	RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	629	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGCCTTGCCTTCACTCACCTC	0.483													48	78					0	0	1	0	0	G	38146339	T	G	38146339	3	3	140	1	0	0	0	0	1	0	0	0	13600	1783	62	5	2108	5	RPGR	23	38146339	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		38146339	117124221	18	2414											
NCDN	23154	broad.mit.edu	37	1	36030915	36030915	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:36030915G>A	ENST00000373243.2	+	7	2224	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	NCDN_ENST00000373253.3_Missense_Mutation_p.G597D|NCDN_ENST00000356090.4_Missense_Mutation_p.G614D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	614					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCCCGGGCTCAGACCAG	0.637													6	73					0	0	1	0	0	A	36030915	G	A	36030915	3	1	141	1	0	0	0	0	1	0	0	0	10261	1203	42	3	1867	3	NCDN	1	36030915	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		36030915	213219706	1	2415											
CRNN	49860	broad.mit.edu	37	1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592													4	234					0	0	1	0	0	C	152382519	T	C	152382519	3	2	141	1	0	0	0	0	1	0	0	0	3915	1696	59	4	452	4	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	116351604	152382519	96868102	2	2416											
ATP8B2	57198	broad.mit.edu	37	1	154309900	154309900	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:154309900G>T	ENST00000368489.3	+	12	1013	c.1013G>T	c.(1012-1014)cGt>cTt	p.R338L	ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	324					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R338H(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGGGGATGCGTTTCCAGGTC	0.552													89	123					3.28864e-39	3.50788e-39	1	1	0	T	154309900	G	T	154309900	3	4	141	1	0	0	0	0	1	0	0	0	1193	1145	40	5	1059	5	ATP8B2	1	154309900	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	1927381	154309900	94940721	3	2417											
CFH	3075	broad.mit.edu	37	1	196645148	196645148	+	Missense_Mutation	SNP	G	G	A	rs121913058		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:196645148G>A	ENST00000367429.4	+	4	620	c.380G>A	c.(379-381)cGt>cAt	p.R127H	CFH_ENST00000359637.2_Missense_Mutation_p.R127H|CFH_ENST00000439155.2_Missense_Mutation_p.R127H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	127	Sushi 2.		R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTAATTACCGTGAATGTGAC	0.308													38	53					0	0	1	0	0	A	196645148	G	A	196645148	3	1	141	1	0	0	0	0	1	0	0	0	3305	1145	40	1	394	1	CFH	1	196645148	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	42335248	196645148	52605473	4	2418											
OR5H6	79295	broad.mit.edu	37	3	97983244	97983244	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr3:97983244G>C	ENST00000383696.2	+	1	157	c.116G>C	c.(115-117)tGt>tCt	p.C39S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C39Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAACCTGACTGTAAAATACCG	0.413													6	135					0	0	1	0	0	C	97983244	G	C	97983244	3	2	141	1	0	0	0	0	1	0	0	0	11210	1377	48	5	118	5	OR5H6	3	97983244	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		97983244	100039186	5	2419											
HS3ST1	9957	broad.mit.edu	37	4	11401091	11401091	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr4:11401091C>T	ENST00000002596.5	-	2	1713	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	180						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTGCCATCGCGCACCAGGAA	0.592													40	53					0	0	1	0	0	T	11401091	C	T	11401091	3	4	141	1	0	0	0	0	1	0	0	0	7404	768	27	1	388	1	HS3ST1	4	11401091	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		11401091	179753185	6	2420											
PAIP1	10605	broad.mit.edu	37	5	43535001	43535001	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:43535001G>A	ENST00000306846.3	-	8	1383	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	384					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCTATATGTTGAAGTTGCATG	0.368													6	51					0	0	1	0	0	A	43535001	G	A	43535001	3	1	141	1	0	0	0	0	1	0	0	0	11443	1294	45	3	304	3	PAIP1	5	43535001	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		43535001	137380259	7	2421											
RAD50	10111	broad.mit.edu	37	5	131931305	131931305	+	Silent	SNP	T	T	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:131931305T>A	ENST00000378823.3	+	13	2411	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	RAD50_ENST00000265335.6_Silent_p.I670I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	670					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTCATTACTCAGCTAA	0.388								Homologous recombination					51	77					0	0	1	0	0	A	131931305	T	A	131931305	2	1	141	1	0	0	0	0	0	0	0	1	13036	1742	61	5		5	RAD50	5	131931305	Silent	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	88396304	131931305	48983955	8	2422											
ARAP3	64411	broad.mit.edu	37	5	141053009	141053009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:141053009G>A	ENST00000239440.4	-	6	996	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	311	PH 1.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCATTGAACTGCACAAAGCGT	0.547													24	43					0	0	1	0	0	A	141053009	G	A	141053009	4	1	141	1	0	0	0	0	0	1	0	0	837	1328	46	3	3815	3	ARAP3	5	141053009	Nonsense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	9121704	141053009	39862251	9	2423											
LSM11	134353	broad.mit.edu	37	5	157182115	157182115	+	Missense_Mutation	SNP	T	T	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:157182115T>A	ENST00000286307.5	+	4	982	c.926T>A	c.(925-927)gTg>gAg	p.V309E		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	309					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTCCAGTGTGGGAGGTACC	0.572													38	50					0	0	1	0	0	A	157182115	T	A	157182115	3	1	141	1	0	0	0	0	1	0	0	0	9097	1696	59	5	940	5	LSM11	5	157182115	Missense_Mutation	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	16129106	157182115	23733145	10	2424											
EDN1	1906	broad.mit.edu	37	6	12290895	12290895	+	Silent	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:12290895G>T	ENST00000379375.5	+	1	300	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	11					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TCTCTCTGCTGTTTGTGGCTT	0.418											OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	45					0.115264	0.115264	1	1	0	T	12290895	G	T	12290895	2	4	141	1	0	0	0	0	0	0	0	1	4942	1364	48	5		5	EDN1	6	12290895	Silent	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		12290895	158824172	11	2425											
GPR126	0	broad.mit.edu	37	6	142764556	142764556	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:142764556C>T	ENST00000367609.3	+	25	4058	c.3657C>T	c.(3655-3657)gtC>gtT	p.V1219V	GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V	NM_198569.2	NP_940971.1	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCATCAGGTCATTGATAAGG	0.403													8	86					0	0	1	0	0	T	142764556	C	T	142764556	2	4	141	1	0	0	0	0	0	0	0	1	6680	813	29	3		3	GPR126	6	142764556	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	130473661	142764556	28350511	12	2426											
SHB	6461	broad.mit.edu	37	9	37974712	37974712	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr9:37974712G>A	ENST00000377707.3	-	3	1526	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	321	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGCTCTCCCGCAGTCGGGGG	0.597													46	71					0	0	1	0	0	A	37974712	G	A	37974712	3	1	141	1	0	0	0	0	1	0	0	0	14323	1086	38	1	584	1	SHB	9	37974712	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		37974712	103238719	13	2427											
CHST15	51363	broad.mit.edu	37	10	125769796	125769796	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr10:125769796G>A	ENST00000346248.5	-	8	2197	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	CHST15_ENST00000435907.1_Missense_Mutation_p.R519C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	519					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCTCGGGACGCCGTGCATTG	0.587													15	14					0	0	1	0	0	A	125769796	G	A	125769796	3	1	141	1	0	0	0	0	1	0	0	0	3425	1087	38	1	134	1	CHST15	10	125769796	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		125769796	9764951	14	2428											
MRPL16	54948	broad.mit.edu	37	11	59575194	59575194	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:59575194C>T	ENST00000300151.4	-	3	463	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	84							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AAATTGCCTTCTGTAAACTCC	0.398													4	214					0	0	1	0	0	T	59575194	C	T	59575194	3	4	141	1	0	0	0	0	1	0	0	0	9830	922	32	3	513	3	MRPL16	11	59575194	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		59575194	75431322	15	2429											
TXNRD1	7296	broad.mit.edu	37	12	104713352	104713352	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:104713352C>T	ENST00000526691.1	+	7	1140	c.684C>T	c.(682-684)taC>taT	p.Y228Y	TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000529546.1_Silent_p.Y138Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	326					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						ACAAAGAATACTGCATCAGCA	0.398													3	9					0	0	1	0	0	T	104713352	C	T	104713352	2	4	141	1	0	0	0	0	0	0	0	1	16869	576	20	3		3	TXNRD1	12	104713352	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		104713352	29138543	16	2430											
CCDC60	160777	broad.mit.edu	37	12	119942926	119942926	+	Missense_Mutation	SNP	G	G	A	rs146647643	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:119942926G>A	ENST00000327554.2	+	7	1166	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	234								p.R234Q(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAACCAAGCCGGCGAGGCTCC	0.547													57	107					0	0	1	0	0	A	119942926	G	A	119942926	3	1	141	1	0	0	0	0	1	0	0	0	2851	1116	39	2	727	2	CCDC60	12	119942926	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	15229574	119942926	13908969	17	2431											
MTUS2	23281	broad.mit.edu	37	13	29855976	29855976	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:29855976C>T	ENST00000431530.3	+	4	2868	c.2810C>T	c.(2809-2811)gCg>gTg	p.A937V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTACTTCCAGCGCCAAAATCC	0.557													8	105					0	0	1	0	0	T	29855976	C	T	29855976	3	4	141	1	0	0	0	0	1	0	0	0	10014	768	27	1	2824	1	MTUS2	13	29855976	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		29855976	85313902	18	2432											
PCID2	55795	broad.mit.edu	37	13	113834493	113834493	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:113834493G>A	ENST00000375457.2	-	11	1429	c.833C>T	c.(832-834)gCg>gTg	p.A278V	PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000337344.4_Missense_Mutation_p.A280V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000351317.3_Missense_Mutation_p.A257V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375477.1_Missense_Mutation_p.A280V	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	280	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	p.A334V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGTTACTTCCGCAAACTGCAT	0.433													4	93					0	0	1	0	0	A	113834493	G	A	113834493	3	1	141	1	0	0	0	0	1	0	0	0	11626	1087	38	1	376	1	PCID2	13	113834493	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	83978517	113834493	1335385	19	2433											
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													7	354	---	---	---	---						-	69328210	CTG	-	69328208	7	5	141	1	0	1	0	1	0	0	0	0	10606	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-W2-A7UY-01A-11D-A35I-08		69328208	33203184	20	2434											
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:20331047A>G	ENST00000302555.5	-	6	1051	c.902T>C	c.(901-903)gTc>gCc	p.V301A	GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423													69	113					0	0	1	0	0	G	20331047	A	G	20331047	3	3	141	1	0	0	0	0	1	0	0	0	6622	275	10	4	726	4	GP2	16	20331047	Missense_Mutation	SNP	A	TCGA-W2-A7UY-01A-11D-A35I-08		20331047	70023706	21	2435											
CDYL2	124359	broad.mit.edu	37	16	80667072	80667072	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:80667072C>T	ENST00000299564.8	-	3	833	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CDYL2_ENST00000566173.1_Silent_p.A227A|CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000563890.1_Silent_p.A227A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	226						nucleus	catalytic activity|protein binding	p.A226A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGTCCTTCTCCGCTTCCAGCT	0.488													46	87					0	0	1	0	0	T	80667072	C	T	80667072	2	4	141	1	0	0	0	0	0	0	0	1	3208	639	23	2		2	CDYL2	16	80667072	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	60336025	80667072	9687681	22	2436											
SLC46A1	113235	broad.mit.edu	37	17	26732355	26732355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:26732355delG	ENST00000440501.1	-	2	455	c.360delC	c.(358-360)gcfs	p.A120fs	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	120					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GGCCCAGCGAGGCCAGCACTA	0.652													2	4	---	---	---	---						-	26732355	G	-	26732355	7	5	141	1	0	1	0	1	0	0	0	0	14699	987	35	0	1036	0	SLC46A1	17	26732355	Frame_Shift_Del	DEL	G	TCGA-W2-A7UY-01A-11D-A35I-08		26732355	54462855	23	2437											
CSH2	1443	broad.mit.edu	37	17	61950686	61950686	+	Silent	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:61950686G>A	ENST00000336844.5	-	2	175	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CSH2_ENST00000392886.2_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S|CSH2_ENST00000345366.7_Silent_p.S8S	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	8					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGGAGCAGGGACGTCCGGG	0.607													15	67					0	0	1	0	0	A	61950686	G	A	61950686	2	1	141	1	0	0	0	0	0	0	0	1	3966	1219	43	3		3	CSH2	17	61950686	Silent	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	35218331	61950686	19244524	24	2438											
ZNF799	90576	broad.mit.edu	37	19	12501827	12501827	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12501827G>T	ENST00000419318.1	-	4	2038	c.1289C>A	c.(1288-1290)tCc>tAc	p.S430Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S462Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATTTTGAAAGGAATAGAAATC	0.388													6	125					3.59834e-05	3.6749e-05	1	1	0	T	12501827	G	T	12501827	3	4	141	1	0	0	0	0	1	0	0	0	18215	1174	41	5	550	5	ZNF799	19	12501827	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		12501827	46627156	25	2439											
TNPO2	30000	broad.mit.edu	37	19	12830080	12830080	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12830080G>A	ENST00000425528.1	-	4	527	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000592287.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L			O14787	TNPO2_HUMAN	transportin 2	57	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTACCTTCTGACTTGAGTCT	0.542													13	30					0	0	1	0	0	A	12830080	G	A	12830080	3	1	141	1	0	0	0	0	1	0	0	0	16396	1294	45	3	2611	3	TNPO2	19	12830080	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	328253	12830080	46298903	26	2440											
HAPLN4	404037	broad.mit.edu	37	19	19371680	19371680	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:19371680C>A	ENST00000291481.7	-	3	489	c.426G>T	c.(424-426)gaG>gaT	p.E142D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	142	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TGACTTCGCACTCATAGCGCC	0.622													33	36					9.65021e-13	1.00698e-12	1	1	0	A	19371680	C	A	19371680	3	1	141	1	0	0	0	0	1	0	0	0	6998	564	20	5	794	5	HAPLN4	19	19371680	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	6541600	19371680	39757303	27	2441											
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)ccfs	p.P29fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602													3	6	---	---	---	---						-	55689729	G	-	55689729	7	5	141	1	0	1	0	1	0	0	0	0	15534	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-W2-A7UY-01A-11D-A35I-08	36318049	55689729	3439254	28	2442											
MAGEA12	4111	broad.mit.edu	37	X	151900045	151900045	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chrX:151900045C>T	ENST00000393900.3	-	3	1109	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MAGEA12_ENST00000393869.3_Silent_p.Q252Q|MAGEA12_ENST00000357916.4_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	252	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGTTTTCCTGCACCAAAT	0.557													120	48					0	0	1	0	0	T	151900045	C	T	151900045	2	4	141	1	0	0	0	0	0	0	0	1	9212	680	24	3		3	MAGEA12	23	151900045	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		151900045	3370515	29	2443											
KIAA1324	57535	broad.mit.edu	37	1	109656849	109656849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr1:109656849delG	ENST00000369939.3	+	1	227	c.44delG	c.(43-45)agfs	p.R15fs	KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.R15fs	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	15					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCAGAGTCAGGGGAAGAACT	0.662													2	4	---	---	---	---						-	109656849	G	-	109656849	7	5	142	1	0	1	0	1	0	0	0	0	8265	1000	35	0	46	0	KIAA1324	1	109656849	Frame_Shift_Del	DEL	G	TCGA-WB-A80K-01A-11D-A35I-08		109656849	139593772	1	2444											
GCKR	2646	broad.mit.edu	37	2	27728649	27728649	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr2:27728649C>G	ENST00000264717.2	+	10	878	c.815C>G	c.(814-816)aCc>aGc	p.T272S	GCKR_ENST00000424318.2_Missense_Mutation_p.T82S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	272	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGCTGGAAACCCTGTTATTA	0.542													5	65					0	0	1	0	0	G	27728649	C	G	27728649	3	3	142	1	0	0	0	0	1	0	0	0	6334	507	18	5	853	5	GCKR	2	27728649	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		27728649	215470724	2	2445											
RFTN1	23180	broad.mit.edu	37	3	16419524	16419524	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:16419524G>A	ENST00000334133.4	-	5	799	c.527C>T	c.(526-528)gCt>gTt	p.A176V	RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	176						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGACACCGGAGCACTGCTGCC	0.552													3	34					0	0	1	0	0	A	16419524	G	A	16419524	3	1	142	1	0	0	0	0	1	0	0	0	13310	971	34	3	1233	3	RFTN1	3	16419524	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		16419524	181602906	3	2446											
ECT2	1894	broad.mit.edu	37	3	172480266	172480266	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:172480266T>G	ENST00000417960.1	+	9	1200	c.723T>G	c.(721-723)gaT>gaG	p.D241E	ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E|ECT2_ENST00000232458.5_Missense_Mutation_p.D242E|ECT2_ENST00000392692.3_Missense_Mutation_p.D273E|ECT2_ENST00000427830.1_Missense_Mutation_p.D242E	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	242	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTTCAAGATTGTATTTTAA	0.294													5	34					0	0	1	0	0	G	172480266	T	G	172480266	3	3	142	1	0	0	0	0	1	0	0	0	4927	1490	52	5	752	5	ECT2	3	172480266	Missense_Mutation	SNP	T	TCGA-WB-A80K-01A-11D-A35I-08	156060742	172480266	25542164	4	2447											
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537													3	30					0	0	1	0	0	T	140811108	C	T	140811108	2	4	142	1	0	0	0	0	0	0	0	1	9257	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		140811108	50343168	5	2448											
MEGF10	84466	broad.mit.edu	37	5	126754828	126754828	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:126754828C>T	ENST00000274473.6	+	12	1589	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I|MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I|MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	441	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GACTGCTCTACCCCATGCCCT	0.443													58	57					0	0	1	0	0	T	126754828	C	T	126754828	3	4	142	1	0	0	0	0	1	0	0	0	9510	507	18	3	1360	3	MEGF10	5	126754828	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		126754828	54160432	6	2449											
CYFIP2	26999	broad.mit.edu	37	5	156787349	156787349	+	Silent	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:156787349C>T	ENST00000347377.6	+	25	3308	c.2877C>T	c.(2875-2877)tgC>tgT	p.C959C	CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Silent_p.C933C|CYFIP2_ENST00000377576.3_Silent_p.C959C|CYFIP2_ENST00000541131.1_Silent_p.C884C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	984					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAGATATGCCGCTTGCCCC	0.517													4	121					0	0	1	0	0	T	156787349	C	T	156787349	2	4	142	1	0	0	0	0	0	0	0	1	4161	747	26	3		3	CYFIP2	5	156787349	Silent	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	30032521	156787349	24127911	7	2450											
COL11A2	1302	broad.mit.edu	37	6	33134291	33134291	+	Splice_Site	SNP	G	G	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:33134291G>C	ENST00000341947.2	-	60	4618	c.4392_splice	c.e60+1	p.P1464_splice	COL11A2_ENST00000357486.1_Splice_Site_p.P1443_splice|COL11A2_ENST00000374714.1_Splice_Site_p.P1438_splice|COL11A2_ENST00000361917.1_Splice_Site_p.P1357_splice|COL11A2_ENST00000395197.1_Splice_Site_p.P1404_splice|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Splice_Site_p.P1417_splice|COL11A2_ENST00000374708.4_Splice_Site_p.P1378_splice|COL11A2_ENST00000374712.1_Splice_Site_p.P1383_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1464	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGTACTCACGGGGAGGCCGGG	0.612													3	42					0	0	1	0	0	C	33134291	G	C	33134291	5	2	142	1	0	0	0	0	0	0	1	0	3691	1246	43	5	847	5	COL11A2	6	33134291	Splice_Site	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		33134291	137980776	8	2451											
PTCRA	171558	broad.mit.edu	37	6	42890951	42890951	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:42890951C>T	ENST00000304672.1	+	2	326	c.245C>T	c.(244-246)aCg>aTg	p.T82M	PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	82						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TCCCCAGCAACGGATGGCACC	0.622													14	55					0	0	1	0	0	T	42890951	C	T	42890951	3	4	142	1	0	0	0	0	1	0	0	0	12784	536	19	1	251	1	PTCRA	6	42890951	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	9756660	42890951	128224116	9	2452											
DLC1	10395	broad.mit.edu	37	8	12958214	12958214	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:12958214G>T	ENST00000276297.4	-	9	2041	c.1632C>A	c.(1630-1632)agC>agA	p.S544R	DLC1_ENST00000520226.1_Missense_Mutation_p.S33R|DLC1_ENST00000512044.2_Missense_Mutation_p.S141R|DLC1_ENST00000358919.2_Missense_Mutation_p.S107R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	544					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACCACCTCTTGCTGTCCCTTT	0.552													3	37					1	1	1	1	0	T	12958214	G	T	12958214	3	4	142	1	0	0	0	0	1	0	0	0	4578	1310	46	5	2994	5	DLC1	8	12958214	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		12958214	133405808	10	2453											
PLEC	5339	broad.mit.edu	37	8	145000031	145000031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:145000031delC	ENST00000322810.4	-	31	4646	c.4477delG	c.(4477-4479)cafs	p.A1493fs	PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1360fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1379fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1342fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1324fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1383fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1334fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1493	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCCTCTGCCCGCTGCTGC	0.701													2	4	---	---	---	---						-	145000031	C	-	145000031	7	5	142	1	0	1	0	1	0	0	0	0	12100	739	26	0	9585	0	PLEC	8	145000031	Frame_Shift_Del	DEL	C	TCGA-WB-A80K-01A-11D-A35I-08	132041817	145000031	1363991	11	2454											
ZP1	22917	broad.mit.edu	37	11	60637317	60637317	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr11:60637317C>T	ENST00000278853.5	+	3	626	c.626C>T	c.(625-627)gCt>gTt	p.A209V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	209					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCACCCTGGCTCAACCCCAC	0.587													3	37					0	0	1	0	0	T	60637317	C	T	60637317	3	4	142	1	0	0	0	0	1	0	0	0	18257	797	28	3	636	3	ZP1	11	60637317	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		60637317	74369199	12	2455											
SCARB1	949	broad.mit.edu	37	12	125292412	125292412	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:125292412C>G	ENST00000339570.5	-	7	1100	c.904G>C	c.(904-906)Gtg>Ctg	p.V302L	SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L|SCARB1_ENST00000415380.2_Missense_Mutation_p.V302L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L|SCARB1_ENST00000261693.6_Missense_Mutation_p.V302L	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	302					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TTGGGAGCCACGAAGCGATAG	0.567													16	40					0	0	1	0	0	G	125292412	C	G	125292412	3	3	142	1	0	0	0	0	1	0	0	0	13934	536	19	5	773	5	SCARB1	12	125292412	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		125292412	8559483	13	2456											
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522													4	96					0	0	1	0	0	A	126138738	G	A	126138738	3	1	142	1	0	0	0	0	1	0	0	0	16106	1145	40	1	2753	1	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08	846326	126138738	7713157	14	2457											
ING1	3621	broad.mit.edu	37	13	111366587	111366587	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr13:111366587C>G	ENST00000333219.7	+	1	963	c.91C>G	c.(91-93)Cag>Gag	p.Q31E	ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTCGACTTGCAGAGAAATGT	0.627													12	34					0	0	1	0	0	G	111366587	C	G	111366587	3	3	142	1	0	0	0	0	1	0	0	0	7779	711	25	5	101	5	ING1	13	111366587	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		111366587	3803291	15	2458											
NRL	4901	broad.mit.edu	37	14	24551759	24551759	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr14:24551759T>C	ENST00000561028.1	-	2	618	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	NRL_ENST00000397002.2_Missense_Mutation_p.Q100R|NRL_ENST00000396997.1_Missense_Mutation_p.Q100R			P54845	NRL_HUMAN	neural retina leucine zipper	100					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGACCCTGCAGCAGCTC	0.657													3	40					0	0	1	0	0	C	24551759	T	C	24551759	3	2	142	1	0	0	0	0	1	0	0	0	10704	1580	55	4	422	4	NRL	14	24551759	Missense_Mutation	SNP	T	TCGA-WB-A80K-01A-11D-A35I-08		24551759	82797781	16	2459											
SEMA6D	80031	broad.mit.edu	37	15	48063896	48063896	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr15:48063896C>T	ENST00000316364.5	+	19	3575	c.3136C>T	c.(3136-3138)Ccg>Tcg	p.P1046S	SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1046					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAAGAGGACGCCGTCCTTAAA	0.512													20	171					0	0	1	0	0	T	48063896	C	T	48063896	3	4	142	1	0	0	0	0	1	0	0	0	14096	739	26	3	3249	3	SEMA6D	15	48063896	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		48063896	54467496	17	2460											
RNPS1	10921	broad.mit.edu	37	16	2314324	2314324	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:2314324G>A	ENST00000565678.1	-	3	625	c.80C>T	c.(79-81)tCa>tTa	p.S27L	RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L|RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L|RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000561718.1_5'UTR			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	27	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTTGGTAGGTGAAGGAGCCCT	0.557													8	116					0	0	1	0	0	A	2314324	G	A	2314324	3	1	142	1	0	0	0	0	1	0	0	0	13563	1294	45	3	861	3	RNPS1	16	2314324	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		2314324	88040429	18	2461											
TFAP4	7023	broad.mit.edu	37	16	4312678	4312678	+	Silent	SNP	G	G	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:4312678G>C	ENST00000204517.6	-	2	442	c.114C>G	c.(112-114)ccC>ccG	p.P38P		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	38					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCTGAGTCTCGGGGGTTAGTG	0.622													4	69					0	0	1	0	0	C	4312678	G	C	4312678	2	2	142	1	0	0	0	0	0	0	0	1	15852	1103	39	5		5	TFAP4	16	4312678	Silent	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08	1998354	4312678	86042075	19	2462											
PHB	5245	broad.mit.edu	37	17	47486440	47486440	+	Silent	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr17:47486440G>A	ENST00000300408.3	-	5	546	c.474C>T	c.(472-474)gcC>gcT	p.A158A	PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	prohibitin	158					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAAAGGTGGCGGCTCGCTCTG	0.587													11	41					0	0	1	0	0	A	47486440	G	A	47486440	2	1	142	1	0	0	0	0	0	0	0	1	11862	1103	39	2		2	PHB	17	47486440	Silent	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		47486440	33708770	20	2463											
PDE4A	5141	broad.mit.edu	37	19	10577609	10577609	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr19:10577609C>T	ENST00000380702.2	+	16	1907	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A658V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	658	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAGACCTGGGCGGACCTTGTC	0.572													39	74					0	0	1	0	0	T	10577609	C	T	10577609	3	4	142	1	0	0	0	0	1	0	0	0	11686	768	27	1	2488	1	PDE4A	19	10577609	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		10577609	48551374	21	2464											
NRK	203447	broad.mit.edu	37	X	105149314	105149314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:105149314delC	ENST00000428173.2	+	10	1126	c.823delC	c.(823-825)ccfs	p.P275fs	NRK_ENST00000243300.9_Frame_Shift_Del_p.P275fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	275	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATCTGCTCCCACAGTCAA	0.368										HNSCC(51;0.14)			2	4	---	---	---	---						-	105149314	C	-	105149314	7	5	142	1	0	1	0	1	0	0	0	0	10703	855	30	0	861	0	NRK	23	105149314	Frame_Shift_Del	DEL	C	TCGA-WB-A80K-01A-11D-A35I-08		105149314	50121246	22	2465											
GPR50	9248	broad.mit.edu	37	X	150349267	150349267	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:150349267C>G	ENST00000218316.3	+	2	1281	c.1212C>G	c.(1210-1212)caC>caG	p.H404Q		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	404	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.H404Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCCACCACAAGTCTGTCT	0.602													5	63					0	0	1	0	0	G	150349267	C	G	150349267	3	3	142	1	0	0	0	0	1	0	0	0	6737	477	17	5	1218	5	GPR50	23	150349267	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	45199953	150349267	4921293	23	2466											
NGEF	25791	broad.mit.edu	37	2	233785226	233785226	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr2:233785226G>A	ENST00000264051.3	-	5	874	c.596C>T	c.(595-597)gCa>gTa	p.A199V	NGEF_ENST00000409079.1_Missense_Mutation_p.A107V|NGEF_ENST00000373552.4_Missense_Mutation_p.A107V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	199	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCTATTTCTGCATCCTGTTG	0.512													4	78					0	0	1	0	0	A	233785226	G	A	233785226	3	1	143	1	0	0	0	0	1	0	0	0	10441	1319	46	3	1580	3	NGEF	2	233785226	Missense_Mutation	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		233785226	9414147	1	2467											
PPARGC1A	10891	broad.mit.edu	37	4	23816227	23816227	+	Splice_Site	SNP	G	G	T			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr4:23816227G>T	ENST00000264867.2	-	8	998	c.877_splice	c.e8-1	p.G293_splice	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	293	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTGGAGTTAGGCCTAAGGCAA	0.393													7	26					0.00198382	0.00198382	1	1	0	T	23816227	G	T	23816227	5	4	143	1	0	0	0	0	0	0	1	0	12345	1217	42	5	1541	5	PPARGC1A	4	23816227	Splice_Site	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		23816227	167338049	2	2468											
FOXC1	2296	broad.mit.edu	37	6	1612142	1612144	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr6:1612142_1612144delGCG	ENST00000380874.2	+	1	1462_1464	c.1462_1464delGCG	c.(1462-1464)del	p.A495del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	495	Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTGGCGAGCgcggcggcggcgg	0.709													2	4	---	---	---	---						-	1612144	GCG	-	1612142	7	5	143	1	0	1	0	1	0	0	0	0	6027	1087	38	0	1464	0	FOXC1	6	1612142	In_Frame_Del	DEL	GCG	TCGA-WB-A80L-01A-11D-A35I-08		1612142	169502925	3	2469											
CASP8AP2	9994	broad.mit.edu	37	6	90556397	90556398	+	RNA	INS	-	-	TTTTT			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr6:90556397_90556398insTTTTT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCTAAtttccttttttttttt	0.421													4	8	---	---	---	---						TTTTT	90556398	-	TTTTT	90556397	6	5	143	0	1	1	1	0	0	0	0	0	2696	696	24	0		0	CASP8AP2	6	90556397	RNA	INS	-	TCGA-WB-A80L-01A-11D-A35I-08	88944255	90556397	80558670	4	2470											
SHANK2	22941	broad.mit.edu	37	11	70319087	70319087	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr11:70319087C>T	ENST00000338508.4	-	33	5439	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D1218N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1434N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1217N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1434					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGACTGCCATCGATCTCATTG	0.478													4	107					0	0	1	0	0	T	70319087	C	T	70319087	3	4	143	1	0	0	0	0	1	0	0	0	14320	884	31	2	116	2	SHANK2	11	70319087	Missense_Mutation	SNP	C	TCGA-WB-A80L-01A-11D-A35I-08		70319087	64687429	5	2471											
MUC16	94025	broad.mit.edu	37	19	8999459	8999459	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr19:8999459G>C	ENST00000397910.4	-	56	40919	c.40716C>G	c.(40714-40716)agC>agG	p.S13572R	MUC16_ENST00000380951.5_Missense_Mutation_p.S213R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13574	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGCTGGCTCAGCTCCC	0.567													4	263					0	0	1	0	0	C	8999459	G	C	8999459	3	2	143	1	0	0	0	0	1	0	0	0	10021	1194	42	5	2923	5	MUC16	19	8999459	Missense_Mutation	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		8999459	50129524	6	2472											
CSDE1	7812	broad.mit.edu	37	1	115267956	115267956	+	Splice_Site	SNP	T	T	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr1:115267956T>A	ENST00000438362.2	-	15	2157		c.e15-2		CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACTCACTAAGGAGAAAG	0.403													50	17					0	0	1	0	0	A	115267956	T	A	115267956	5	1	144	1	0	0	0	0	0	0	1	0	3954	1536	53	5	781	5	CSDE1	1	115267956	Splice_Site	SNP	T	TCGA-WB-A80M-01A-11D-A35I-08		115267956	133982665	1	2473											
PLCL1	5334	broad.mit.edu	37	2	198950399	198950399	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr2:198950399C>T	ENST00000428675.1	+	2	2556	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	720	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGGGTGTCTCCTCTAGCTCT	0.448													37	51					0	0	1	0	0	T	198950399	C	T	198950399	3	4	144	1	0	0	0	0	1	0	0	0	12087	855	30	3	2164	3	PLCL1	2	198950399	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08		198950399	44248974	2	2474											
ZFYVE28	57732	broad.mit.edu	37	4	2306616	2306616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:2306616G>T	ENST00000290974.2	-	8	1790	c.1451C>A	c.(1450-1452)tCg>tAg	p.S484*	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	484					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGCAGCCGCGAGTCCAGGCA	0.662													3	57					1	1	1	1	0	T	2306616	G	T	2306616	4	4	144	1	0	0	0	0	0	1	0	0	17728	1059	37	5	1236	5	ZFYVE28	4	2306616	Nonsense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		2306616	188847660	3	2475											
WDFY3	23001	broad.mit.edu	37	4	85636525	85636525	+	Silent	SNP	C	C	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:85636525C>A	ENST00000322366.6	-	49	8243	c.7836G>T	c.(7834-7836)gtG>gtT	p.V2612V	WDFY3_ENST00000295888.4_Silent_p.V2629V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2629						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAAACTTCCACAGCAATAG	0.318													26	26					2.27525e-19	2.37867e-19	1	1	0	A	85636525	C	A	85636525	2	1	144	1	0	0	0	0	0	0	0	1	17330	581	21	5		5	WDFY3	4	85636525	Silent	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08	83329909	85636525	105517751	4	2476											
CYP2U1	113612	broad.mit.edu	37	4	108866589	108866589	+	Silent	SNP	A	A	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:108866589A>T	ENST00000332884.6	+	2	1229	c.954A>T	c.(952-954)atA>atT	p.I318I	CYP2U1_ENST00000508453.1_Silent_p.I109I|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	318					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AGGACTTCATAGACATGTACC	0.348													4	51					0	0	1	0	0	T	108866589	A	T	108866589	2	4	144	1	0	0	0	0	0	0	0	1	4198	410	15	5		5	CYP2U1	4	108866589	Silent	SNP	A	TCGA-WB-A80M-01A-11D-A35I-08	23230064	108866589	82287687	5	2477											
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													4	222					0	0	1	0	0	C	139266690	T	C	139266690	3	2	144	1	0	0	0	0	1	0	0	0	13280	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-WB-A80M-01A-11D-A35I-08		139266690	31848377	6	2478											
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													5	144					0	0	1	0	0	G	72398976	A	G	72398976	3	3	144	1	0	0	0	0	1	0	0	0	12287	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-WB-A80M-01A-11D-A35I-08		72398976	86739687	7	2479											
PODXL	5420	broad.mit.edu	37	7	131241096	131241096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:131241096delG	ENST00000541194.1	-	1	280	c.23delC	c.(22-24)tgfs	p.S8fs	PODXL_ENST00000378555.3_Frame_Shift_Del_p.S8fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	8					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGCAGCGCCGAGAGCGCCAG	0.741													2	4	---	---	---	---						-	131241096	G	-	131241096	7	5	144	1	0	1	0	1	0	0	0	0	12228	1059	37	0	1689	0	PODXL	7	131241096	Frame_Shift_Del	DEL	G	TCGA-WB-A80M-01A-11D-A35I-08	58842120	131241096	27897567	8	2480											
OMD	4958	broad.mit.edu	37	9	95179741	95179741	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:95179741C>G	ENST00000375550.4	-	2	375	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	34					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCATCTGGCTCTTGGTCATAG	0.363			T	USP6	aneurysmal bone cysts								23	31					0	0	1	0	0	G	95179741	C	G	95179741	3	3	144	1	0	0	0	0	1	0	0	0	10913	922	32	5	1173	5	OMD	9	95179741	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08		95179741	46033690	9	2481											
OR1J1	347168	broad.mit.edu	37	9	125239932	125239932	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:125239932C>T	ENST00000259357.2	-	1	303	c.274G>A	c.(274-276)Gtc>Atc	p.V92I		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGTAAAAGACGGCTAGGTGC	0.423													30	52					0	0	1	0	0	T	125239932	C	T	125239932	3	4	144	1	0	0	0	0	1	0	0	0	11007	536	19	1	697	1	OR1J1	9	125239932	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08	30060191	125239932	15973499	10	2482											
IFIT3	3437	broad.mit.edu	37	10	91099316	91099316	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr10:91099316G>A	ENST00000371818.4	+	2	1084	c.904G>A	c.(904-906)Gga>Aga	p.G302R	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	302					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGAAGCTAGTGGAAATAAAGA	0.413													31	17					0	0	1	0	0	A	91099316	G	A	91099316	3	1	144	1	0	0	0	0	1	0	0	0	7568	1349	47	3	919	3	IFIT3	10	91099316	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		91099316	44435431	11	2483											
ZDHHC24	254359	broad.mit.edu	37	11	66307235	66307235	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr11:66307235G>A	ENST00000310442.3	-	3	854	c.620C>T	c.(619-621)gCg>gTg	p.A207V	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	207	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCACAGCAGCGCACCCGCCAC	0.647													3	20					0	0	1	0	0	A	66307235	G	A	66307235	3	1	144	1	0	0	0	0	1	0	0	0	17673	1087	38	1	238	1	ZDHHC24	11	66307235	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		66307235	68699281	12	2484											
ALDH2	217	broad.mit.edu	37	12	112204841	112204843	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr12:112204841_112204843delGCC	ENST00000261733.2	+	1	116_118	c.55_57delGCC	c.(55-57)del	p.A21del	RP11-162P23.2_ENST00000546840.2_Intron|ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	21					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCTCTTGTCAGCCGCCGCCACCC	0.734			T	HMGA2	leiomyoma								2	4	---	---	---	---						-	112204843	GCC	-	112204841	7	5	144	1	0	1	0	1	0	0	0	0	493	971	34	0	57	0	ALDH2	12	112204841	In_Frame_Del	DEL	GCC	TCGA-WB-A80M-01A-11D-A35I-08		112204841	21647054	13	2485											
ADCY4	196883	broad.mit.edu	37	14	24801744	24801744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:24801744delG	ENST00000310677.4	-	4	616	c.503delC	c.(502-504)ctfs	p.P168fs	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	168					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCAGTGCAGGCCGTGAGTC	0.662											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	24801744	G	-	24801744	7	5	144	1	0	1	0	1	0	0	0	0	295	1000	35	0	2822	0	ADCY4	14	24801744	Frame_Shift_Del	DEL	G	TCGA-WB-A80M-01A-11D-A35I-08		24801744	82547796	14	2486											
GTF2A1	2957	broad.mit.edu	37	14	81646632	81646643	+	In_Frame_Del	DEL	CATCCTTGAGAT	CATCCTTGAGAT	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:81646632_81646643delCATCCTTGAGAT	ENST00000553612.1	-	9	1458_1469	c.1055_1066delATCTCAAGGATG	c.(1054-1068)cgc>c	p.HLKDG352del	GTF2A1_ENST00000434192.2_In_Frame_Del_p.HLKDG313del	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	352					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TTCATAATGCCATCCTTGAGATGAAATTTCCA	0.274													24	111	---	---	---	---						-	81646643	CATCCTTGAGAT	-	81646632	7	5	144	1	0	1	0	1	0	0	0	0	6893	594	21	0	68	0	GTF2A1	14	81646632	In_Frame_Del	DEL	CATCCTTGAGAT	TCGA-WB-A80M-01A-11D-A35I-08	56844888	81646632	25702908	15	2487											
MYO18A	399687	broad.mit.edu	37	17	27423926	27423927	+	Frame_Shift_Ins	INS	-	-	C			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:27423926_27423927insC	ENST00000527372.1	-	28	4417_4418	c.4237_4238insG	c.(4237-4239)cctfs	p.P1413fs	MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.P1413fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1413					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCTGCAGGTCCCCGAGCTAG	0.589													2	4	---	---	---	---						C	27423927	-	C	27423926	7	5	144	1	0	1	1	0	0	0	0	0	10113	1667	58	0	1986	0	MYO18A	17	27423926	Frame_Shift_Ins	INS	-	TCGA-WB-A80M-01A-11D-A35I-08		27423926	53771284	16	2488											
MRI1	84245	broad.mit.edu	37	19	13879776	13879776	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr19:13879776G>A	ENST00000319545.8	+	5	779	c.722G>A	c.(721-723)cGt>cAt	p.R241H	MRI1_ENST00000040663.6_Missense_Mutation_p.R288H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	288					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGTGACCTCCGTCTGGAGACC	0.592													17	13					0	0	1	0	0	A	13879776	G	A	13879776	3	1	144	1	0	0	0	0	1	0	0	0	9819	1145	40	1	974	1	MRI1	19	13879776	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		13879776	45249207	17	2489											
CDC45	8318	broad.mit.edu	37	22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:19471512G>A	ENST00000407835.1	+	6	726	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H			O75419	CDC45_HUMAN	cell division cycle 45	157					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTGAGAAGCGCACACGGTTA	0.532													3	54					0	0	1	0	0	A	19471512	G	A	19471512	3	1	144	1	0	0	0	0	1	0	0	0	3103	1087	38	1	488	1	CDC45	22	19471512	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		19471512	31833054	18	2490											
TUBGCP6	85378	broad.mit.edu	37	22	50659143	50659143	+	Silent	SNP	G	G	A	rs143650291		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:50659143G>A	ENST00000439308.2	-	16	4137	c.3645C>T	c.(3643-3645)caC>caT	p.H1215H	TUBGCP6_ENST00000248846.5_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1215	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACACATGTCCGTGGGTGTTCC	0.622													3	55					0	0	1	0	0	A	50659143	G	A	50659143	2	1	144	1	0	0	0	0	0	0	0	1	16832	1136	40	1		1	TUBGCP6	22	50659143	Silent	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08	31187631	50659143	645423	19	2491											
OBSCN	84033	broad.mit.edu	37	1	228526563	228526563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr1:228526563delC	ENST00000570156.2	+	80	20039	c.19965delC	c.(19963-19965)atfs	p.I6655fs	OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5698	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTCTGTGATCCAGGAGCTGC	0.672													2	4	---	---	---	---						-	228526563	C	-	228526563	7	5	145	1	0	1	0	1	0	0	0	0	10860	845	30	0	17364	0	OBSCN	1	228526563	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08		228526563	20724058	1	2492											
ERCC3	2071	broad.mit.edu	37	2	128050376	128050376	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr2:128050376T>C	ENST00000493187.2	-	3	552	c.89A>G	c.(88-90)aAa>aGa	p.K30R	ERCC3_ENST00000285398.2_Missense_Mutation_p.K94R			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	94					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGGCATATTTGTAAACTGG	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	43					0	0	1	0	0	C	128050376	T	C	128050376	3	2	145	1	0	0	0	0	1	0	0	0	5242	1841	64	4	2119	4	ERCC3	2	128050376	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		128050376	115148997	2	2493											
LRRN1	57633	broad.mit.edu	37	3	3888472	3888472	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:3888472G>T	ENST00000319331.3	+	2	2908	c.2147G>T	c.(2146-2148)tGg>tTg	p.W716L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	716						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TATTACATGTGGTAACTCAGA	0.423													4	23					0.00024832	0.00024832	1	1	0	T	3888472	G	T	3888472	3	4	145	1	0	0	0	0	1	0	0	0	9079	1357	47	5	2149	5	LRRN1	3	3888472	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		3888472	194133958	3	2494											
HHATL	57467	broad.mit.edu	37	3	42741312	42741312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:42741312delC	ENST00000441594.1	-	3	373	c.112delG	c.(112-114)ccfs	p.A38fs	HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	38					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TTCCTGTGGGCCCCATCTGAG	0.662													2	4	---	---	---	---						-	42741312	C	-	42741312	7	5	145	1	0	1	0	1	0	0	0	0	7131	739	26	0	1442	0	HHATL	3	42741312	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08	38852840	42741312	155281118	4	2495											
IP6K1	9807	broad.mit.edu	37	3	49775711	49775711	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:49775711T>C	ENST00000321599.4	-	3	669	c.368A>G	c.(367-369)cAc>cGc	p.H123R	IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	123					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCCTGACCGGTGCAGGCTCCG	0.552													4	55					0	0	1	0	0	C	49775711	T	C	49775711	3	2	145	1	0	0	0	0	1	0	0	0	7832	1696	59	4	973	4	IP6K1	3	49775711	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08	7034399	49775711	148246719	5	2496											
FOXP1	27086	broad.mit.edu	37	3	71096155	71096155	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:71096155C>T	ENST00000318789.4	-	10	1127	c.602G>A	c.(601-603)cGc>cAc	p.R201H	FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	201	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AAGGCCTTGGCGCTGCAAAGA	0.527			T	PAX5	ALL								4	184					0	0	1	0	0	T	71096155	C	T	71096155	3	4	145	1	0	0	0	0	1	0	0	0	6060	768	27	1	1479	1	FOXP1	3	71096155	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08	21320444	71096155	126926275	6	2497											
IL21	59067	broad.mit.edu	37	4	123542015	123542015	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:123542015T>G	ENST00000264497.3	-	1	209	c.152A>C	c.(151-153)aAt>aCt	p.N51T	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	44					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATTCACATAATTTTTCAGCTG	0.338													36	47					0	0	1	0	0	G	123542015	T	G	123542015	3	3	145	1	0	0	0	0	1	0	0	0	7714	1493	52	5	356	5	IL21	4	123542015	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		123542015	67612261	7	2498											
SORBS2	8470	broad.mit.edu	37	4	186544636	186544636	+	Silent	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:186544636G>A	ENST00000431808.1	-	14	2498	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	645	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.H645H(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtggtgatggtggt	0.527													4	63					0	0	1	0	0	A	186544636	G	A	186544636	2	1	145	1	0	0	0	0	0	0	0	1	14982	1252	44	3		3	SORBS2	4	186544636	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	63002621	186544636	4609640	8	2499											
ZNF311	282890	broad.mit.edu	37	6	28963545	28963545	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr6:28963545C>T	ENST00000377179.3	-	7	1746	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TAAGGTCGTTCCCCAGTGTGG	0.512													9	71					0	0	1	0	0	T	28963545	C	T	28963545	3	4	145	1	0	0	0	0	1	0	0	0	17891	864	30	3	770	3	ZNF311	6	28963545	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08		28963545	142151522	9	2500											
MUC17	140453	broad.mit.edu	37	7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:100683180G>A	ENST00000306151.4	+	3	8547	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2828	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACCCTTTCA	0.498													5	388					0	0	1	0	0	A	100683180	G	A	100683180	3	1	145	1	0	0	0	0	1	0	0	0	10022	1203	42	3	8493	3	MUC17	7	100683180	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		100683180	58455483	10	2501											
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													4	68					0	0	1	0	0	G	114269973	A	G	114269973	2	3	145	1	0	0	0	0	0	0	0	1	6061	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-WB-A80N-01A-11D-A35I-08	13586793	114269973	44868690	11	2502											
GRIN1	2902	broad.mit.edu	37	9	140056433	140056433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr9:140056433delC	ENST00000371561.3	+	11	2622	c.1525delC	c.(1525-1527)agfs	p.Q509fs	GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	509					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTCAGCGGGCAGGCAGACAT	0.592													2	4	---	---	---	---						-	140056433	C	-	140056433	7	5	145	1	0	1	0	1	0	0	0	0	6819	711	25	0	1634	0	GRIN1	9	140056433	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08		140056433	1156998	12	2503											
SEC61A2	55176	broad.mit.edu	37	10	12211282	12211282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:12211282delA	ENST00000304267.8	+	12	1357	c.1270delA	c.(1270-1272)agfs	p.K424fs	NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000491614.1_Intron|NUDT5_ENST00000537776.1_Intron|NUDT5_ENST00000378952.3_Intron|SEC61A2_ENST00000495368.1_3'UTR	NM_001142627.1	NP_001136099.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	0						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AAGAAGGTGGAAGGGAGAAGG	0.443													2	4	---	---	---	---						-	12211282	A	-	12211282	7	5	145	1	0	1	0	1	0	0	0	0	14055	247	9	0	1507	0	SEC61A2	10	12211282	Frame_Shift_Del	DEL	A	TCGA-WB-A80N-01A-11D-A35I-08		12211282	123323465	13	2504											
FAM175B	23172	broad.mit.edu	37	10	126523309	126523309	+	Silent	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:126523309T>C	ENST00000298492.5	+	9	1062	c.1017T>C	c.(1015-1017)tcT>tcC	p.S339S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	339						BRISC complex	polyubiquitin binding			NS(1)	1						CTGTGGGCTCTTCCAATTATG	0.512													10	23					0	0	1	0	0	C	126523309	T	C	126523309	2	2	145	1	0	0	0	0	0	0	0	1	5528	1596	56	4		4	FAM175B	10	126523309	Silent	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08	114312027	126523309	9011438	14	2505											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			23	70					0	0	1	0	0	A	533874	T	A	533874	3	1	145	1	0	0	0	0	1	0	0	0	7389	1580	55	5	466	5	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		533874	134472642	15	2506											
TTC9C	283237	broad.mit.edu	37	11	62502998	62502998	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:62502998G>A	ENST00000316461.4	+	2	693	c.383G>A	c.(382-384)cGc>cAc	p.R128H	TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H|TTC9C_ENST00000513247.2_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	128							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GACCAGGCCCGCCACTACCTC	0.512													3	25					0	0	1	0	0	A	62502998	G	A	62502998	3	1	145	1	0	0	0	0	1	0	0	0	16779	1087	38	1	389	1	TTC9C	11	62502998	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	61969124	62502998	72503518	16	2507											
HOXC10	3226	broad.mit.edu	37	12	54379494	54379494	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr12:54379494G>A	ENST00000303460.4	+	1	525	c.451G>A	c.(451-453)Gcc>Acc	p.A151T		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	151					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTACTACCGCGCCAGCCCGAG	0.677													3	40					0	0	1	0	0	A	54379494	G	A	54379494	3	1	145	1	0	0	0	0	1	0	0	0	7350	1087	38	1	453	1	HOXC10	12	54379494	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		54379494	79472401	17	2508											
DCLK1	9201	broad.mit.edu	37	13	36385001	36385001	+	Silent	SNP	G	G	A	rs144489471	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr13:36385001G>A	ENST00000255448.4	-	12	1870	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	DCLK1_ENST00000379893.1_Silent_p.Y246Y|DCLK1_ENST00000360631.3_Silent_p.Y553Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	553	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGAGCCACGTATGTTGGGG	0.478													4	174					0	0	1	0	0	A	36385001	G	A	36385001	2	1	145	1	0	0	0	0	0	0	0	1	4314	1140	40	1		1	DCLK1	13	36385001	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		36385001	78784877	18	2509											
AHNAK2	113146	broad.mit.edu	37	14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622													5	444					0	0	1	0	0	A	105416378	G	A	105416378	3	1	145	1	0	0	0	0	1	0	0	0	412	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		105416378	1933162	19	2510											
EPB42	2038	broad.mit.edu	37	15	43512971	43512971	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr15:43512971G>A	ENST00000300215.3	-	1	510	c.53C>T	c.(52-54)gCa>gTa	p.A18V	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582													4	153					0	0	1	0	0	A	43512971	G	A	43512971	3	1	145	1	0	0	0	0	1	0	0	0	5186	1319	46	3	2164	3	EPB42	15	43512971	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		43512971	59018421	20	2511											
CDH16	1014	broad.mit.edu	37	16	66942312	66942312	+	Silent	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:66942312G>A	ENST00000299752.4	-	18	2666	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	CDH16_ENST00000568632.1_Silent_p.L728L|CDH16_ENST00000394055.3_Silent_p.L803L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000570262.1_Silent_p.L745L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	825					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCGCCTTCAGGGGCACGCTG	0.592													14	44					0	0	1	0	0	A	66942312	G	A	66942312	2	1	145	1	0	0	0	0	0	0	0	1	3123	991	35	3		3	CDH16	16	66942312	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		66942312	23412441	21	2512											
MVD	4597	broad.mit.edu	37	16	88721768	88721768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:88721768delC	ENST00000301012.3	-	7	765	c.736delG	c.(736-738)agfs	p.E246fs		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	246					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAGTCTCGCTCCCGGATGCAG	0.657													2	4	---	---	---	---						-	88721768	C	-	88721768	7	5	145	1	0	1	0	1	0	0	0	0	10042	864	30	0	482	0	MVD	16	88721768	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08	21779456	88721768	1632985	22	2513											
KRI1	65095	broad.mit.edu	37	19	10665833	10665833	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:10665833G>A	ENST00000312962.6	-	18	1748	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	KRI1_ENST00000361821.5_Missense_Mutation_p.R573W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	577										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTACGCCCGCTTGTCCCGC	0.632													4	99					0	0	1	0	0	A	10665833	G	A	10665833	3	1	145	1	0	0	0	0	1	0	0	0	8487	1086	38	1	408	1	KRI1	19	10665833	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		10665833	48463150	23	2514											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													5	150					0	0	1	0	0	A	12575498	G	A	12575498	3	1	145	1	0	0	0	0	1	0	0	0	18169	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	1909665	12575498	46553485	24	2515											
SIGLEC6	946	broad.mit.edu	37	19	52033997	52033997	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:52033997C>G	ENST00000346477.3	-	3	712	c.644G>C	c.(643-645)tGt>tCt	p.C215S	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.C215S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	215	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGTCACCTGACAGGTGAGGTT	0.652													15	34					0	0	1	0	0	G	52033997	C	G	52033997	3	3	145	1	0	0	0	0	1	0	0	0	14367	478	17	5	774	5	SIGLEC6	19	52033997	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08	39458499	52033997	7094986	25	2516											
SCP2	6342	broad.mit.edu	37	1	53516319	53516319	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr1:53516319G>A	ENST00000371514.3	+	16	1755	c.1587G>A	c.(1585-1587)atG>atA	p.M529I	SCP2_ENST00000407246.2_Missense_Mutation_p.M505I|SCP2_ENST00000435345.2_Missense_Mutation_p.M125I|SCP2_ENST00000430330.2_Missense_Mutation_p.M122I|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.M485I|SCP2_ENST00000528311.1_Missense_Mutation_p.M448I|SCP2_ENST00000488965.1_3'UTR	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	529	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CTGGCAACATGGGTCTCGCTA	0.373													5	41					0	0	1	0	0	A	53516319	G	A	53516319	3	1	146	1	0	0	0	0	1	0	0	0	13988	1348	47	3	1673	3	SCP2	1	53516319	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08		53516319	195734302	1	2517											
TCHHL1	126637	broad.mit.edu	37	1	152058827	152058827	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr1:152058827G>A	ENST00000368806.1	-	3	1395	c.1331C>T	c.(1330-1332)aCa>aTa	p.T444I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	444							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)			TAGATATTGTGTCTCAGAACC	0.453													10	113					0	0	1	0	0	A	152058827	G	A	152058827	3	1	146	1	0	0	0	0	1	0	0	0	15761	1377	48	3	1387	3	TCHHL1	1	152058827	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08	98542508	152058827	97191794	2	2518											
SPTBN1	0	broad.mit.edu	37	2	54853144	54853144	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr2:54853144G>A	ENST00000333896.5	+	11	1763	c.1378G>A	c.(1378-1380)Gca>Aca	p.A460T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A473T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	473					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACATTGCCGCATACGAGGA	0.537													3	58					0	0	1	0	0	A	54853144	G	A	54853144	3	1	146	1	0	0	0	0	1	0	0	0	15175	1087	38	1	1572	1	SPTBN1	2	54853144	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08		54853144	188346229	3	2519											
PIK3CA	5290	broad.mit.edu	37	3	178919203	178919203	+	Silent	SNP	C	C	A			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:178919203C>A	ENST00000263967.3	+	4	845	c.688C>A	c.(688-690)Cga>Aga	p.R230R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	230	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAAAAAACTCGAAGTATGTT	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	34					1.99824e-07	2.06714e-07	1	1	0	A	178919203	C	A	178919203	2	1	146	1	0	0	0	0	0	0	0	1	11961	876	31	5		5	PIK3CA	3	178919203	Silent	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		178919203	19103227	4	2520											
LEPREL1	55214	broad.mit.edu	37	3	189705336	189705336	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:189705336C>T	ENST00000319332.5	-	5	1275	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A179T	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	360					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCAATGGATGCCGGGTCAATG	0.428													3	34					0	0	1	0	0	T	189705336	C	T	189705336	3	4	146	1	0	0	0	0	1	0	0	0	8769	739	26	3	1092	3	LEPREL1	3	189705336	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08	10786133	189705336	8317094	5	2521											
TNK2	10188	broad.mit.edu	37	3	195599219	195599219	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:195599219T>C	ENST00000333602.6	-	10	1996	c.1379A>G	c.(1378-1380)aAc>aGc	p.N460S	TNK2_ENST00000381916.2_Missense_Mutation_p.N523S|TNK2_ENST00000428187.1_Missense_Mutation_p.N492S|TNK2_ENST00000316664.3_Missense_Mutation_p.N460S|TNK2_ENST00000392400.1_Missense_Mutation_p.N460S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	460	CRIB.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGAAGCTGTTCTGCAGGGG	0.657													3	26					0	0	1	0	0	C	195599219	T	C	195599219	3	2	146	1	0	0	0	0	1	0	0	0	16378	1725	60	4	1810	4	TNK2	3	195599219	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08	5893883	195599219	2423211	6	2522											
C6	729	broad.mit.edu	37	5	41149523	41149523	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr5:41149523C>T	ENST00000263413.3	-	17	2707	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	C6_ENST00000337836.5_Missense_Mutation_p.A815T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	815	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACTTACAAGCGGGTGAAGTA	0.418													5	143					0	0	1	0	0	T	41149523	C	T	41149523	3	4	146	1	0	0	0	0	1	0	0	0	2329	768	27	1	369	1	C6	5	41149523	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		41149523	139765737	7	2523											
APC	324	broad.mit.edu	37	5	112178930	112178930	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr5:112178930T>C	ENST00000457016.1	+	16	8019	c.7639T>C	c.(7639-7641)Tgg>Cgg	p.W2547R	APC_ENST00000508376.2_Missense_Mutation_p.W2547R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.W2547R			P25054	APC_HUMAN	adenomatous polyposis coli	2547	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCAGGAACCTGGAAACGTGA	0.428		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	71					0	0	1	0	0	C	112178930	T	C	112178930	3	2	146	1	0	0	0	0	1	0	0	0	759	1580	55	4	7697	4	APC	5	112178930	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08	71029407	112178930	68736330	8	2524											
HSP90AB1	3326	broad.mit.edu	37	6	44221299	44221299	+	Silent	SNP	C	C	T	rs143048794	byFrequency	TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0	T	44221299	C	T	44221299	2	4	146	1	0	0	0	0	0	0	0	1	7445	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		44221299	126893768	9	2525											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			38	36					0	0	1	0	0	C	533874	T	C	533874	3	2	146	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08		533874	134472642	10	2526											
MRGPRX4	117196	broad.mit.edu	37	11	18195692	18195692	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr11:18195692G>A	ENST00000314254.3	+	1	1309	c.889G>A	c.(889-891)Gac>Aac	p.D297N	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	297						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCTCTGCAGGACAAGCCTGA	0.552													4	84					0	0	1	0	0	A	18195692	G	A	18195692	3	1	146	1	0	0	0	0	1	0	0	0	9818	1174	41	3	891	3	MRGPRX4	11	18195692	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08	17661818	18195692	116810824	11	2527											
KRT6C	286887	broad.mit.edu	37	12	52863523	52863523	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr12:52863523A>G	ENST00000252250.6	-	7	1402	c.1355T>C	c.(1354-1356)aTg>aCg	p.M452T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	452	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTTGACATTCATCAGCTCCTG	0.597													18	62					0	0	1	0	0	G	52863523	A	G	52863523	3	3	146	1	0	0	0	0	1	0	0	0	8525	217	8	4	351	4	KRT6C	12	52863523	Missense_Mutation	SNP	A	TCGA-WB-A80O-01A-11D-A35I-08		52863523	80988372	12	2528											
NDN	4692	broad.mit.edu	37	15	23932274	23932274	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr15:23932274C>T	ENST00000331837.4	-	1	176	c.91G>A	c.(91-93)Ggg>Agg	p.G31R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	31					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAGGAACCCCCTCCGAAACC	0.687									Prader-Willi syndrome				11	21					0	0	1	0	0	T	23932274	C	T	23932274	3	4	146	1	0	0	0	0	1	0	0	0	10294	623	22	3	878	3	NDN	15	23932274	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		23932274	78599118	13	2529											
MSLNL	401827	broad.mit.edu	37	16	832030	832030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr16:832030delG	ENST00000293892.3	-	2	92	c.93delC	c.(91-93)ccfs	p.P31fs	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGAAGGTGCTGGGGCCAAGGG	0.662													2	4	---	---	---	---						-	832030	G	-	832030	7	5	146	1	0	1	0	1	0	0	0	0	9930	1335	47	0	3128	0	MSLNL	16	832030	Frame_Shift_Del	DEL	G	TCGA-WB-A80O-01A-11D-A35I-08		832030	89522723	14	2530											
USP14	9097	broad.mit.edu	37	18	158712	158712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr18:158712delC	ENST00000261601.6	+	1	105	c.14delC	c.(13-15)tcfs	p.S5fs	USP14_ENST00000383589.2_Frame_Shift_Del_p.S5fs|USP14_ENST00000582707.1_Frame_Shift_Del_p.S5fs|USP14_ENST00000400266.3_Frame_Shift_Del_p.S5fs	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	5	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCGCTCTACTCCGGTGAGCCC	0.766													2	4	---	---	---	---						-	158712	C	-	158712	7	5	146	1	0	1	0	1	0	0	0	0	17105	855	30	0	16	0	USP14	18	158712	Frame_Shift_Del	DEL	C	TCGA-WB-A80O-01A-11D-A35I-08		158712	77918536	15	2531											
CYP2A6	1548	broad.mit.edu	37	19	41354569	41354569	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr19:41354569C>T	ENST00000301141.5	-	3	463	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	148					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTCCTGGATGCGCTCCTCGAT	0.692													3	40					0	0	1	0	0	T	41354569	C	T	41354569	3	4	146	1	0	0	0	0	1	0	0	0	4185	768	27	1	1069	1	CYP2A6	19	41354569	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		41354569	17774414	16	2532											
NR0B2	8431	broad.mit.edu	37	1	27238482	27238482	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:27238482C>A	ENST00000254227.3	-	2	653	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	210	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCTTGGGCTGCTGGGCAC	0.632													3	33					0.004672	0.004964	1	1	0	A	27238482	C	A	27238482	3	1	147	1	0	0	0	0	1	0	0	0	10662	797	28	5	149	5	NR0B2	1	27238482	Missense_Mutation	SNP	C	TCGA-WB-A80P-01A-11D-A35I-08		27238482	222012139	1	2533											
ZNF385D	79750	broad.mit.edu	37	3	21462776	21462776	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:21462776G>A	ENST00000281523.2	-	8	1636	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	373						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGGAGTGCCGGAGGAAGCGC	0.562													7	24					0	0	1	0	0	A	21462776	G	A	21462776	3	1	147	1	0	0	0	0	1	0	0	0	17935	1116	39	2	73	2	ZNF385D	3	21462776	Missense_Mutation	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		21462776	176559654	2	2534											
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:52812034G>A	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000542827.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562													26	48					0	0	1	0	0	A	52812034	G	A	52812034	5	1	147	1	0	0	0	0	0	0	1	0	7947	1159	40	1	145	1	ITIH1	3	52812034	Splice_Site	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08	31349258	52812034	145210396	3	2535											
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)			2	4	---	---	---	---						AT	32557569	-	AT	32557568	6	5	147	1	0	1	1	0	0	0	0	0	7249	580	20	0		0	HLA-DRB1	6	32557568	Translation_Start_Site	INS	-	TCGA-WB-A80P-01A-11D-A35I-08		32557568	138557499	4	2536											
RP1L1	94137	broad.mit.edu	37	8	10480359	10480359	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr8:10480359C>T	ENST00000382483.3	-	2	576	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	118					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCTGTGGCCGGCCTGGTCC	0.637													9	18					0	0	1	0	0	T	10480359	C	T	10480359	3	4	147	1	0	0	0	0	1	0	0	0	13585	652	23	2	6861	2	RP1L1	8	10480359	Missense_Mutation	SNP	C	TCGA-WB-A80P-01A-11D-A35I-08		10480359	135883663	5	2537											
CCNDBP1	23582	broad.mit.edu	37	15	43483811	43483811	+	Silent	SNP	G	G	C			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr15:43483811G>C	ENST00000300213.4	+	8	1040	c.798G>C	c.(796-798)ggG>ggC	p.G266G	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	266	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CAGAGAATGGGAAGAAGGATC	0.502													19	21					0	0	1	0	0	C	43483811	G	C	43483811	2	2	147	1	0	0	0	0	0	0	0	1	2941	1161	41	5		5	CCNDBP1	15	43483811	Silent	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		43483811	59047581	6	2538											
KIR3DL1	3811	broad.mit.edu	37	19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													4	159					0	0	1	0	0	A	55341599	G	A	55341599	3	1	147	1	0	0	0	0	1	0	0	0	8363	1174	41	3	1238	3	KIR3DL1	19	55341599	Missense_Mutation	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		55341599	3787384	7	2539											
PLEKHM2	23207	broad.mit.edu	37	1	16046372	16046372	+	Silent	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:16046372C>G	ENST00000375799.3	+	6	836	c.609C>G	c.(607-609)acC>acG	p.T203T	PLEKHM2_ENST00000375793.2_Silent_p.T203T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	203	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCACCTCCACCAACCTGGAGT	0.557													10	18					0	0	1	0	0	G	16046372	C	G	16046372	2	3	148	1	0	0	0	0	0	0	0	1	12129	581	21	5		5	PLEKHM2	1	16046372	Silent	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08		16046372	233204249	1	2540											
MYOM3	127294	broad.mit.edu	37	1	24435093	24435093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:24435093delC	ENST00000330966.7	-	2	196	c.34delG	c.(34-36)acfs	p.D12fs	MYOM3_ENST00000374434.3_Frame_Shift_Del_p.D12fs|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.D12fs			Q5VTT5	MYOM3_HUMAN	myomesin 3	12										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCGGGGGTCCCCCGCACCT	0.667													2	4	---	---	---	---						-	24435093	C	-	24435093	7	5	148	1	0	1	0	1	0	0	0	0	10141	855	30	0	4423	0	MYOM3	1	24435093	Frame_Shift_Del	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08	8388721	24435093	224815528	2	2541											
PDE4DIP	9659	broad.mit.edu	37	1	144879387	144879387	+	Nonsense_Mutation	SNP	G	G	A	rs149886351		TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:144879387G>A	ENST00000369359.4	-	30	4509	c.4471C>T	c.(4471-4473)Cga>Tga	p.R1491*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1355					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1355*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTCCTTTCGTAGGACCAAG	0.493			T	PDGFRB	MPD								5	405					0	0	1	0	0	A	144879387	G	A	144879387	4	1	148	1	0	0	0	0	0	1	0	0	11690	1153	40	1	3049	1	PDE4DIP	1	144879387	Nonsense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08	120444294	144879387	104371234	3	2542											
DNMT3A	1788	broad.mit.edu	37	2	25470489	25470489	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:25470489T>G	ENST00000264709.3	-	8	1322	c.985A>C	c.(985-987)Atg>Ctg	p.M329L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.M106L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	329	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAACCACATGACCCAGCGG	0.617			"Mis, F, N, S"		AML								15	46					0	0	1	0	0	G	25470489	T	G	25470489	3	3	148	1	0	0	0	0	1	0	0	0	4703	1464	51	5	1817	5	DNMT3A	2	25470489	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08		25470489	217728884	4	2543											
VWA3B	200403	broad.mit.edu	37	2	98928751	98928751	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:98928751C>G	ENST00000477737.1	+	28	4028	c.3824C>G	c.(3823-3825)cCc>cGc	p.P1275R	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1275										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCAGCCCTGCCCTGTACTCTC	0.627													18	38					0	0	1	0	0	G	98928751	C	G	98928751	3	3	148	1	0	0	0	0	1	0	0	0	17301	623	22	5	3930	5	VWA3B	2	98928751	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	73458262	98928751	144270622	5	2544											
FIGN	55137	broad.mit.edu	37	2	164467612	164467612	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:164467612T>G	ENST00000333129.3	-	3	1044	c.730A>C	c.(730-732)Agt>Cgt	p.S244R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGCTGTAACTGGAGAGGTTA	0.612													21	29					0	0	1	0	0	G	164467612	T	G	164467612	3	3	148	1	0	0	0	0	1	0	0	0	5924	1580	55	5	1553	5	FIGN	2	164467612	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	65538861	164467612	78731761	6	2545											
GPRIN3	285513	broad.mit.edu	37	4	90170128	90170128	+	Silent	SNP	G	G	C			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:90170128G>C	ENST00000333209.3	-	2	1652	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	378			A -> V (in dbSNP:rs6811370).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTCCTGGGGGGCTAGCGTGC	0.562													18	62					0	0	1	0	0	C	90170128	G	C	90170128	2	2	148	1	0	0	0	0	0	0	0	1	6772	1219	43	5		5	GPRIN3	4	90170128	Silent	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		90170128	100984148	7	2546											
ADH4	127	broad.mit.edu	37	4	100063871	100063871	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:100063871C>T	ENST00000508393.1	-	3	301	c.136G>A	c.(136-138)Gtt>Att	p.V46I	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.V27I|ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	27					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GCTACTTCAACCTCTTCAATG	0.507													4	79					0	0	1	0	0	T	100063871	C	T	100063871	3	4	148	1	0	0	0	0	1	0	0	0	309	507	18	3	1095	3	ADH4	4	100063871	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	9893743	100063871	91090405	8	2547											
FRMD4A	55691	broad.mit.edu	37	10	13698822	13698822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:13698822delC	ENST00000357447.2	-	22	3135	c.2767delG	c.(2767-2769)ccfs	p.A923fs	FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.A908fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.A923fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	923						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTGAGACGGCGGCACGGCCC	0.731													2	4	---	---	---	---						-	13698822	C	-	13698822	7	5	148	1	0	1	0	1	0	0	0	0	6086	768	27	0	364	0	FRMD4A	10	13698822	Frame_Shift_Del	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08		13698822	121835925	9	2548											
NHLRC2	374354	broad.mit.edu	37	10	115661652	115661652	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:115661652C>A	ENST00000369301.3	+	7	1579	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	456					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GAAAGAGACCCCATGGTAATG	0.453													39	54					4.92203e-23	4.92203e-23	1	1	0	A	115661652	C	A	115661652	3	1	148	1	0	0	0	0	1	0	0	0	10453	623	22	5	1393	5	NHLRC2	10	115661652	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	101962830	115661652	19873095	10	2549											
GOLGA2B	0	broad.mit.edu	37	12	100552782	100552782	+	RNA	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr12:100552782C>G	ENST00000397112.4	-	0	1477					NR_036632.1															large_intestine(1)|lung(3)	4						CACAGCTTTGCTTTGAGCTTT	0.597													3	5					0	0	1	0	0	G	100552782	C	G	100552782	1	3	148	0	1	0	0	0	0	0	0	0	6595	812	28	5		5	GOLGA2B	12	100552782	RNA	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08		100552782	33299113	11	2550											
MGAT2	4247	broad.mit.edu	37	14	50088617	50088617	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:50088617A>G	ENST00000305386.2	+	1	1129	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	211					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATTGGGGTGCATCAATGCTGA	0.493													39	71					0	0	1	0	0	G	50088617	A	G	50088617	3	3	148	1	0	0	0	0	1	0	0	0	9593	217	8	4	633	4	MGAT2	14	50088617	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		50088617	57260923	12	2551											
BMP4	652	broad.mit.edu	37	14	54417562	54417562	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:54417562G>A	ENST00000245451.4	-	4	808	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	139					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGAGGAAACGAAAAGCAGAG	0.498													6	65					0	0	1	0	0	A	54417562	G	A	54417562	3	1	148	1	0	0	0	0	1	0	0	0	1461	1058	37	2	815	2	BMP4	14	54417562	Missense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08	4328945	54417562	52931978	13	2552											
ADAM20	8748	broad.mit.edu	37	14	70989772	70989772	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:70989772T>A	ENST00000256389.3	-	2	2097	c.1853A>T	c.(1852-1854)aAt>aTt	p.N618I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	568	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TACTCCCACATTTTCACACTG	0.453													19	42					0	0	1	0	0	A	70989772	T	A	70989772	3	1	148	1	0	0	0	0	1	0	0	0	241	1493	52	5	481	5	ADAM20	14	70989772	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	16572210	70989772	36359768	14	2553											
LGMN	5641	broad.mit.edu	37	14	93182496	93182496	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:93182496C>T	ENST00000393218.2	-	6	726	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LGMN_ENST00000557434.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000555699.1_Missense_Mutation_p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	130					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGGACTTTGCCGGATCCTAT	0.468													4	139					0	0	1	0	0	T	93182496	C	T	93182496	3	4	148	1	0	0	0	0	1	0	0	0	8795	739	26	3	952	3	LGMN	14	93182496	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	22192724	93182496	14167044	15	2554											
KCNJ16	3773	broad.mit.edu	37	17	68128236	68128236	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr17:68128236A>G	ENST00000585558.1	+	4	501	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	3					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGAATGAGCTATTACGGCAGC	0.428													9	20					0	0	1	0	0	G	68128236	A	G	68128236	3	3	148	1	0	0	0	0	1	0	0	0	8094	449	16	4	10	4	KCNJ16	17	68128236	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		68128236	13066974	16	2555											
EIF3G	8666	broad.mit.edu	37	19	10229616	10229616	+	Silent	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:10229616G>A	ENST00000253108.4	-	4	210	c.168C>T	c.(166-168)ccC>ccT	p.P56P	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	56						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGACCTCCTTGGGAGGCGGCA	0.582													14	26					0	0	1	0	0	A	10229616	G	A	10229616	2	1	148	1	0	0	0	0	0	0	0	1	5045	1335	47	3		3	EIF3G	19	10229616	Silent	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		10229616	48899367	17	2556											
ATP13A1	57130	broad.mit.edu	37	19	19768144	19768144	+	Splice_Site	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:19768144delC	ENST00000357324.6	-	4	777		c.e4+1		ATP13A1_ENST00000291503.5_Splice_Site	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGCTTTACCTGAAATACA	0.567													2	4	---	---	---	---						-	19768144	C	-	19768144	8	5	148	1	0	1	0	1	0	0	1	0	1122	521	18	0	2955	0	ATP13A1	19	19768144	Splice_Site	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08	9538528	19768144	39360839	18	2557											
PLCB4	5332	broad.mit.edu	37	20	9389817	9389817	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:9389817A>G	ENST00000378501.2	+	20	1967	c.1952A>G	c.(1951-1953)tAt>tGt	p.Y651C	PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y651C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	651	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCACTGAACTATCAAACCCCA	0.502													16	26					0	0	1	0	0	G	9389817	A	G	9389817	3	3	148	1	0	0	0	0	1	0	0	0	12078	449	16	4	2070	4	PLCB4	20	9389817	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		9389817	53635703	19	2558											
TTPAL	79183	broad.mit.edu	37	20	43113157	43113157	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:43113157T>C	ENST00000372904.3	+	4	769	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	209	CRAL-TRIO.					intracellular	transporter activity	p.I209T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAAAAGGTGATTGGCATCCTC	0.468													33	66					0	0	1	0	0	C	43113157	T	C	43113157	3	2	148	1	0	0	0	0	1	0	0	0	16799	1493	52	4	632	4	TTPAL	20	43113157	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	33723340	43113157	19912363	20	2559											
SAT1	6303	broad.mit.edu	37	X	23803819	23803819	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:23803819G>A	ENST00000379270.4	+	6	541	c.362G>A	c.(361-363)cGc>cAc	p.R121H	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.R93H	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	121	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	ATGAGGTGTCGCTGCAGCAGC	0.418													4	84					0	0	1	0	0	A	23803819	G	A	23803819	3	1	148	1	0	0	0	0	1	0	0	0	13904	1087	38	1	384	1	SAT1	23	23803819	Missense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		23803819	131466741	21	2560											
RAB40A	142684	broad.mit.edu	37	X	102755566	102755566	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:102755566T>A	ENST00000372633.1	-	1	2237	c.119A>T	c.(118-120)gAg>gTg	p.E40V	RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GTACGGGGACTCAGCTGCACC	0.622													29	76					0	0	1	0	0	A	102755566	T	A	102755566	3	1	148	1	0	0	0	0	1	0	0	0	12991	1551	54	5	718	5	RAB40A	23	102755566	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	78951747	102755566	52514994	22	2561											
CYP4A11	1579	broad.mit.edu	37	1	47402419	47402419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:47402419G>A	ENST00000310638.4	-	4	458	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	143					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCATCCGTCGATGCTGGAAC	0.527													13	3					0	0	1	0	0	A	47402419	G	A	47402419	4	1	149	1	0	0	0	0	0	1	0	0	4206	1066	37	2	1168	2	CYP4A11	1	47402419	Nonsense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		47402419	201848202	1	2562											
FAM72B	653820	broad.mit.edu	37	1	120854564	120854564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:120854564C>A	ENST00000369390.3	+	4	1257	c.428C>A	c.(427-429)tCa>tAa	p.S143*	FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	143										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTAAATATCTCAGCAGAGGAG	0.269													21	3					4.59853e-10	4.77539e-10	1	1	0	A	120854564	C	A	120854564	4	1	149	1	0	0	0	0	0	1	0	0	5650	838	29	5	442	5	FAM72B	1	120854564	Nonsense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	73452145	120854564	128396057	2	2563											
OBSCN	84033	broad.mit.edu	37	1	228540722	228540722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:228540722delA	ENST00000570156.2	+	90	21565	c.21491delA	c.(21490-21492)cgfs	p.Q7164fs	OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.Q6207fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6207					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCAGGCCCAGGAGCAGTGT	0.697													2	4	---	---	---	---						-	228540722	A	-	228540722	7	5	149	1	0	1	0	1	0	0	0	0	10860	188	7	0	18930	0	OBSCN	1	228540722	Frame_Shift_Del	DEL	A	TCGA-WB-A80V-01A-12D-A35I-08	107686158	228540722	20709899	3	2564											
RNF149	284996	broad.mit.edu	37	2	101898392	101898392	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:101898392G>A	ENST00000295317.3	-	6	1195	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	363						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCAGGGGAGGCTGATGG	0.483													41	52					0	0	1	0	0	A	101898392	G	A	101898392	3	1	149	1	0	0	0	0	1	0	0	0	13502	1174	41	3	122	3	RNF149	2	101898392	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		101898392	141300981	4	2565											
TGFBRAP1	9392	broad.mit.edu	37	2	105924111	105924111	+	Silent	SNP	T	T	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:105924111T>A	ENST00000393359.2	-	2	1074	c.648A>T	c.(646-648)atA>atT	p.I216I	TGFBRAP1_ENST00000258449.1_Silent_p.I216I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	216	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTGTCTCCCTATCCTCTTGA	0.587													6	149					0	0	1	0	0	A	105924111	T	A	105924111	2	1	149	1	0	0	0	0	0	0	0	1	15884	1512	53	5		5	TGFBRAP1	2	105924111	Silent	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08	4025719	105924111	137275262	5	2566											
TRIM71	131405	broad.mit.edu	37	3	32932862	32932862	+	Silent	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:32932862C>T	ENST00000383763.4	+	4	2229	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	722					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAGGAACCACCGGATCCAGC	0.542													12	4					0	0	1	0	0	T	32932862	C	T	32932862	2	4	149	1	0	0	0	0	0	0	0	1	16605	506	18	3		3	TRIM71	3	32932862	Silent	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08		32932862	165089568	6	2567											
PLCH1	23007	broad.mit.edu	37	3	155200763	155200763	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:155200763A>T	ENST00000460012.1	-	23	3319	c.2962T>A	c.(2962-2964)Tca>Aca	p.S988T	PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1026T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1026					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGGAGGATGATAACTTTTTG	0.418													33	7					0	0	1	0	0	T	155200763	A	T	155200763	3	4	149	1	0	0	0	0	1	0	0	0	12085	333	12	5	2009	5	PLCH1	3	155200763	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08	122267901	155200763	42821667	7	2568											
ANKRD17	26057	broad.mit.edu	37	4	74005476	74005476	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr4:74005476T>C	ENST00000358602.4	-	15	2973	c.2857A>G	c.(2857-2859)Atc>Gtc	p.I953V	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	953	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGGCTGGATTGGCGCAAAA	0.532													37	27					0	0	1	0	0	C	74005476	T	C	74005476	3	2	149	1	0	0	0	0	1	0	0	0	642	1493	52	4	5034	4	ANKRD17	4	74005476	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08		74005476	117148800	8	2569											
LPA	4018	broad.mit.edu	37	6	160999682	160999682	+	Silent	SNP	A	A	G			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr6:160999682A>G	ENST00000447678.1	-	28	4464	c.4344T>C	c.(4342-4344)tgT>tgC	p.C1448C	LPA_ENST00000316300.5_Silent_p.C1448C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3956	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCATGGTGTAACACCAAGGGC	0.517													6	44					0	0	1	0	0	G	160999682	A	G	160999682	2	3	149	1	0	0	0	0	0	0	0	1	8948	41	2	4		4	LPA	6	160999682	Silent	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		160999682	10115385	9	2570											
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase.		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				48	76					0	0	1	0	0	C	43617416	T	C	43617416	3	2	149	1	0	0	0	0	1	0	0	0	13287	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08		43617416	91917331	10	2571											
ZNF503	84858	broad.mit.edu	37	10	77158808	77158808	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:77158808C>T	ENST00000372524.4	-	2	2126	c.1640G>A	c.(1639-1641)gGg>gAg	p.G547E	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTTGTCTGTCCCGGGAAATGC	0.662													17	17					0	0	1	0	0	T	77158808	C	T	77158808	3	4	149	1	0	0	0	0	1	0	0	0	18008	623	22	3	304	3	ZNF503	10	77158808	Missense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	33541392	77158808	58375939	11	2572											
TM7SF3	51768	broad.mit.edu	37	12	27129269	27129269	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:27129269T>C	ENST00000343028.4	-	10	1436	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	404						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TACACCATCATCATGAAAAAT	0.363													7	22					0	0	1	0	0	C	27129269	T	C	27129269	3	2	149	1	0	0	0	0	1	0	0	0	16035	1435	50	4	513	4	TM7SF3	12	27129269	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08		27129269	106722626	12	2573											
PDE1B	0	broad.mit.edu	37	12	54963377	54963377	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:54963377C>T	ENST00000243052.3	+	5	894	c.458C>T	c.(457-459)gCg>gTg	p.A153V	PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	153					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TACTCTACTGCGGTTCTCAAC	0.488													4	110					0	0	1	0	0	T	54963377	C	T	54963377	3	4	149	1	0	0	0	0	1	0	0	0	11681	768	27	1	529	1	PDE1B	12	54963377	Missense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	27834108	54963377	78888518	13	2574											
ARHGAP9	64333	broad.mit.edu	37	12	57868688	57868688	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:57868688G>A	ENST00000393797.2	-	16	2083	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	560	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGCAGAGCCGCAAAAAGCTG	0.547													3	44					0	0	1	0	0	A	57868688	G	A	57868688	3	1	149	1	0	0	0	0	1	0	0	0	886	1086	38	1	598	1	ARHGAP9	12	57868688	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08	2905311	57868688	75983207	14	2575											
SSH1	54434	broad.mit.edu	37	12	109192840	109192840	+	Missense_Mutation	SNP	T	T	C	rs144199955	by1000genomes	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:109192840T>C	ENST00000326495.5	-	13	1378	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V|SSH1_ENST00000551165.1_Missense_Mutation_p.I429V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	429	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCGCGTGATGCTGCGCTTC	0.562													28	27					0	0	1	0	0	C	109192840	T	C	109192840	3	2	149	1	0	0	0	0	1	0	0	0	15240	1464	51	4	2062	4	SSH1	12	109192840	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08	51324152	109192840	24659055	15	2576											
ARL6IP4	51329	broad.mit.edu	37	12	123466570	123466570	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:123466570C>T	ENST00000315580.5	+	4	1233	c.905C>T	c.(904-906)gCc>gTc	p.A302V	RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	302					RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		GAGTGGGATGCCCGGCAGAGC	0.622													3	29					0	0	1	0	0	T	123466570	C	T	123466570	3	4	149	1	0	0	0	0	1	0	0	0	942	739	26	3	919	3	ARL6IP4	12	123466570	Missense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	14273730	123466570	10385325	16	2577											
CENPJ	55835	broad.mit.edu	37	13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333													7	56					7.48243e-07	7.48243e-07	1	1	0	T	25466996	G	T	25466996	3	4	149	1	0	0	0	0	1	0	0	0	3256	1386	48	5	1047	5	CENPJ	13	25466996	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		25466996	89702882	17	2578											
ADSSL1	122622	broad.mit.edu	37	14	105190771	105190771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr14:105190771delC	ENST00000330877.2	+	1	249	c.164delC	c.(163-165)agfs	p.T55fs		NM_152328.3	NP_689541.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	55					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGCTGGCCACGGACGCCGAC	0.766													2	4	---	---	---	---						-	105190771	C	-	105190771	7	5	149	1	0	1	0	1	0	0	0	0	347	536	19	0	166	0	ADSSL1	14	105190771	Frame_Shift_Del	DEL	C	TCGA-WB-A80V-01A-12D-A35I-08		105190771	2158769	18	2579											
ALDH1A3	220	broad.mit.edu	37	15	101440899	101440899	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr15:101440899G>A	ENST00000329841.5	+	9	1535	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	335					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CAGGCGGAGCGTGGAGTATGC	0.572													9	22					0	0	1	0	0	A	101440899	G	A	101440899	3	1	149	1	0	0	0	0	1	0	0	0	489	1145	40	1	1037	1	ALDH1A3	15	101440899	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		101440899	1090493	19	2580											
ADAT1	23536	broad.mit.edu	37	16	75646709	75646709	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr16:75646709A>T	ENST00000307921.3	-	7	620	c.475T>A	c.(475-477)Tgt>Agt	p.C159S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	159	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AAGACAGGACAGCAAGGCTGA	0.478													29	38					0	0	1	0	0	T	75646709	A	T	75646709	3	4	149	1	0	0	0	0	1	0	0	0	283	188	7	5	1053	5	ADAT1	16	75646709	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		75646709	14708044	20	2581											
TTLL6	284076	broad.mit.edu	37	17	46847140	46847140	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr17:46847140G>A	ENST00000393382.3	-	14	2501	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	739						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGGAAGAAGGAGAGCTTCCC	0.507													25	35					0	0	1	0	0	A	46847140	G	A	46847140	3	1	149	1	0	0	0	0	1	0	0	0	16793	1174	41	3	323	3	TTLL6	17	46847140	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		46847140	34348070	21	2582											
SEH1L	81929	broad.mit.edu	37	18	12971218	12971218	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr18:12971218G>T	ENST00000262124.11	+	5	715	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	196					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CAATGGCCAAGGTTCAGATTT	0.373													22	32					9.57634e-11	1.03424e-10	1	1	0	T	12971218	G	T	12971218	3	4	149	1	0	0	0	0	1	0	0	0	14063	991	35	5	606	5	SEH1L	18	12971218	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		12971218	65106030	22	2583											
SIGLEC11	114132	broad.mit.edu	37	19	50461638	50461638	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr19:50461638A>G	ENST00000447370.2	-	8	1643	c.1553T>C	c.(1552-1554)cTg>cCg	p.L518P	SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	518					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ATGGAGGCTCAGGGAGCTGTT	0.677													3	28					0	0	1	0	0	G	50461638	A	G	50461638	3	3	149	1	0	0	0	0	1	0	0	0	14362	188	7	4	559	4	SIGLEC11	19	50461638	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		50461638	8667345	23	2584											
TNR	7143	broad.mit.edu	37	1	175375785	175375785	+	Silent	SNP	C	C	T			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:175375785C>T	ENST00000367674.1	-	3	774	c.66G>A	c.(64-66)ctG>ctA	p.L22L	TNR_ENST00000263525.2_Silent_p.L22L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	22					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCATGGAGCCCAGAAGGATCA	0.542													4	137					0	0	1	0	0	T	175375785	C	T	175375785	2	4	150	1	0	0	0	0	0	0	0	1	16398	581	21	3		3	TNR	1	175375785	Silent	SNP	C	TCGA-WB-A80Y-01A-11D-A35I-08		175375785	73874836	1	2585											
DSTYK	25778	broad.mit.edu	37	1	205138795	205138795	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:205138795A>G	ENST00000367162.3	-	3	850	c.820T>C	c.(820-822)Ttt>Ctt	p.F274L	DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L|DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	274						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AATACAGGAAAGGAGAAATAC	0.453													21	38					0	0	1	0	0	G	205138795	A	G	205138795	3	3	150	1	0	0	0	0	1	0	0	0	4811	72	3	4	2013	4	DSTYK	1	205138795	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	29763010	205138795	44111826	2	2586											
CCDC39	339829	broad.mit.edu	37	3	180365982	180365982	+	Silent	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr3:180365982A>G	ENST00000273654.4	-	16	2204	c.1585T>C	c.(1585-1587)Ttg>Ctg	p.L529L	CCDC39_ENST00000442201.2_Silent_p.L445L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	445					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGCTGCTTCAAGGTTTCAAAA	0.343													7	15					0	0	1	0	0	G	180365982	A	G	180365982	2	3	150	1	0	0	0	0	0	0	0	1	2830	69	3	4		4	CCDC39	3	180365982	Silent	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08		180365982	17656448	3	2587											
PSD3	23362	broad.mit.edu	37	8	18490305	18490305	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:18490305T>C	ENST00000440756.2	-	11	2336	c.2234A>G	c.(2233-2235)gAg>gGg	p.E745G	PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G|PSD3_ENST00000327040.8_Missense_Mutation_p.E743G			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	744					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTTTTTTTCTCTTCATCATC	0.358													19	21					0	0	1	0	0	C	18490305	T	C	18490305	3	2	150	1	0	0	0	0	1	0	0	0	12697	1551	54	4	939	4	PSD3	8	18490305	Missense_Mutation	SNP	T	TCGA-WB-A80Y-01A-11D-A35I-08		18490305	127873717	4	2588											
CHMP7	91782	broad.mit.edu	37	8	23104385	23104385	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:23104385delG	ENST00000397677.1	+	2	825	c.177delG	c.(175-177)ttfs	p.L59fs	CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	59					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGCGCCGTTGGTGCTGAGCC	0.667											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	23104385	G	-	23104385	7	5	150	1	0	1	0	1	0	0	0	0	3383	1339	47	0	179	0	CHMP7	8	23104385	Frame_Shift_Del	DEL	G	TCGA-WB-A80Y-01A-11D-A35I-08	4614080	23104385	123259637	5	2589											
OR52I1	390037	broad.mit.edu	37	11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:4615722G>A	ENST00000450052.2	+	2	526	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488													3	47					0	0	1	0	0	A	4615722	G	A	4615722	3	1	150	1	0	0	0	0	1	0	0	0	11168	1145	40	1	456	1	OR52I1	11	4615722	Missense_Mutation	SNP	G	TCGA-WB-A80Y-01A-11D-A35I-08		4615722	130390794	6	2590											
DYNC2H1	79659	broad.mit.edu	37	11	103027262	103027262	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:103027262A>G	ENST00000375735.2	+	26	4034	c.3890A>G	c.(3889-3891)gAt>gGt	p.D1297G	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1297	Stem (By similarity).				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)		GACTGGAAAGATATAGTAAAT	0.343													24	22					0	0	1	0	0	G	103027262	A	G	103027262	3	3	150	1	0	0	0	0	1	0	0	0	4872	333	12	4	3992	4	DYNC2H1	11	103027262	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	98411540	103027262	31979254	7	2591											
MIDN	90007	broad.mit.edu	37	19	1254406	1254407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:1254406_1254407insC	ENST00000300952.2	+	5	1140_1141	c.625_626insC	c.(625-627)cccfs	p.P209fs	MIDN_ENST00000591446.2_Frame_Shift_Ins_p.P209fs	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	209						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCCCGTCCCCTGCATCT	0.738													2	4	---	---	---	---						C	1254407	-	C	1254406	7	5	150	1	0	1	1	0	0	0	0	0	9627	1667	58	0	639	0	MIDN	19	1254406	Frame_Shift_Ins	INS	-	TCGA-WB-A80Y-01A-11D-A35I-08		1254406	57874577	8	2592											
LIG1	3978	broad.mit.edu	37	19	48647153	48647153	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:48647153T>C	ENST00000263274.7	-	10	1263	c.844A>G	c.(844-846)Aaa>Gaa	p.K282E	LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	282					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCCCGGTTTCCAGCAGGCA	0.532								Nucleotide excision repair (NER)					26	44					0	0	1	0	0	C	48647153	T	C	48647153	3	2	150	1	0	0	0	0	1	0	0	0	8821	1792	62	4	1991	4	LIG1	19	48647153	Missense_Mutation	SNP	T	TCGA-WB-A80Y-01A-11D-A35I-08	47392747	48647153	10481830	9	2593											
CPT1C	126129	broad.mit.edu	37	19	50208514	50208514	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:50208514A>G	ENST00000392518.4	+	10	1295	c.923A>G	c.(922-924)gAg>gGg	p.E308G	CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G|CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	308					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCAGTACGAGAAGATCTTC	0.562													36	60					0	0	1	0	0	G	50208514	A	G	50208514	3	3	150	1	0	0	0	0	1	0	0	0	3856	304	11	4	953	4	CPT1C	19	50208514	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	1561361	50208514	8920469	10	2594											
OPN1MW2	728458	broad.mit.edu	37	X	153496178	153496178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chrX:153496178delG	ENST00000369929.4	+	5	966	c.906delG	c.(904-906)ttfs	p.L302fs		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACCCTTTGATGGCTGCCC	0.547													71	82	---	---	---	---						-	153496178	G	-	153496178	7	5	150	1	0	1	0	1	0	0	0	0	10927	1281	45	0	2043	0	OPN1MW2	23	153496178	Frame_Shift_Del	DEL	G	TCGA-WB-A80Y-01A-11D-A35I-08		153496178	1774382	11	2595											
TGFBR3	7049	broad.mit.edu	37	1	92174280	92174280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr1:92174280G>A	ENST00000212355.4	-	14	2692	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.Q743*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	743					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTCTTATTCTGCATCATGGCC	0.547													9	38					0	0	1	0	0	A	92174280	G	A	92174280	4	1	151	1	0	0	0	0	0	1	0	0	15883	1328	46	3	344	3	TGFBR3	1	92174280	Nonsense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08		92174280	157076341	1	2596											
EPAS1	2034	broad.mit.edu	37	2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592													34	80					0	0	1	0	0	T	46607400	C	T	46607400	3	4	151	1	0	0	0	0	1	0	0	0	5178	710	25	3	1635	3	EPAS1	2	46607400	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08		46607400	196591973	2	2597											
ALMS1	7840	broad.mit.edu	37	2	73717628	73717628	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:73717628G>A	ENST00000264448.6	+	10	8650	c.8539G>A	c.(8539-8541)Ggc>Agc	p.G2847S	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2847					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TATTAGCATGGGCAGACCAAG	0.403													13	31					0	0	1	0	0	A	73717628	G	A	73717628	3	1	151	1	0	0	0	0	1	0	0	0	531	1232	43	3	8577	3	ALMS1	2	73717628	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08	27110228	73717628	169481745	3	2598											
PKP4	8502	broad.mit.edu	37	2	159517885	159517885	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:159517885C>T	ENST00000389757.3	+	13	2259	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	PKP4_ENST00000389759.3_Missense_Mutation_p.R712W|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	712					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAAGCAAATGCGGTCCTGCGA	0.577										HNSCC(62;0.18)			3	47					0	0	1	0	0	T	159517885	C	T	159517885	3	4	151	1	0	0	0	0	1	0	0	0	12035	759	27	1	2180	1	PKP4	2	159517885	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	85800257	159517885	83681488	4	2599											
RNF168	165918	broad.mit.edu	37	3	196199525	196199525	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr3:196199525A>G	ENST00000318037.3	-	6	1475	c.881T>C	c.(880-882)aTa>aCa	p.I294T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	294					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AGGGGACTCTATTGAAGAATC	0.458													13	37					0	0	1	0	0	G	196199525	A	G	196199525	3	3	151	1	0	0	0	0	1	0	0	0	13511	449	16	4	838	4	RNF168	3	196199525	Missense_Mutation	SNP	A	TCGA-WB-A814-01A-11D-A35I-08		196199525	1822905	5	2600											
RBM24	221662	broad.mit.edu	37	6	17283076	17283076	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr6:17283076A>T	ENST00000379052.5	+	2	445	c.209A>T	c.(208-210)aAg>aTg	p.K70M	RBM24_ENST00000425446.2_Missense_Mutation_p.K12M|RBM24_ENST00000318204.5_Missense_Mutation_p.K25M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	70	RRM.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGGCCTGCAAGGATCCCAAT	0.483													3	43					0	0	1	0	0	T	17283076	A	T	17283076	3	4	151	1	0	0	0	0	1	0	0	0	13176	72	3	5	248	5	RBM24	6	17283076	Missense_Mutation	SNP	A	TCGA-WB-A814-01A-11D-A35I-08		17283076	153831991	6	2601											
TNS3	64759	broad.mit.edu	37	7	47344521	47344521	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:47344521G>A	ENST00000398879.1	-	21	3097	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	TNS3_ENST00000311160.9_Missense_Mutation_p.R911W|TNS3_ENST00000355730.3_Missense_Mutation_p.R671W			Q68CZ2	TENS3_HUMAN	tensin 3	911						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCATCAGCCCGGAGCATCGTG	0.587													3	29					0	0	1	0	0	A	47344521	G	A	47344521	3	1	151	1	0	0	0	0	1	0	0	0	16404	1115	39	2	1650	2	TNS3	7	47344521	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08		47344521	111794142	7	2602											
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493													5	293					0	0	1	0	0	T	100682744	C	T	100682744	3	4	151	1	0	0	0	0	1	0	0	0	10022	739	26	3	8057	3	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	53338223	100682744	58455919	8	2603											
MRVI1	10335	broad.mit.edu	37	11	10602002	10602002	+	Splice_Site	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:10602002C>T	ENST00000547195.1	-	19	2722	c.2222_splice	c.e19+1	p.S741_splice	MRVI1_ENST00000534266.2_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Splice_Site_p.S824_splice|MRVI1_ENST00000421747.1_Splice_Site_p.S823_splice|MRVI1_ENST00000436272.1_Splice_Site_p.S805_splice|MRVI1_ENST00000541483.1_Splice_Site_p.S626_splice|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Splice_Site_p.S741_splice|MRVI1_ENST00000424001.1_Splice_Site_p.S517_splice|MRVI1_ENST00000527509.2_Splice_Site_p.S741_splice|MRVI1_ENST00000423302.2_Splice_Site_p.S832_splice|MRVI1_ENST00000558540.1_Splice_Site_p.S517_splice|MRVI1_ENST00000545852.1_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529829.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	805					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTTCCCACCTGCTTCTTGG	0.488													4	169					0	0	1	0	0	T	10602002	C	T	10602002	5	4	151	1	0	0	0	0	0	0	1	0	9902	695	24	3	251	3	MRVI1	11	10602002	Splice_Site	SNP	C	TCGA-WB-A814-01A-11D-A35I-08		10602002	124404514	9	2604											
AHNAK	79026	broad.mit.edu	37	11	62288421	62288421	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:62288421C>T	ENST00000378024.4	-	5	13742	c.13468G>A	c.(13468-13470)Ggg>Agg	p.G4490R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCTGGCCCTTTCAGATCA	0.453													36	53					0	0	1	0	0	T	62288421	C	T	62288421	3	4	151	1	0	0	0	0	1	0	0	0	411	681	24	3	4324	3	AHNAK	11	62288421	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	51686419	62288421	72718095	10	2605											
HNRNPM	4670	broad.mit.edu	37	19	8550640	8550640	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:8550640G>A	ENST00000348943.3	+	15	1443	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	443	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTCATGGACCGCATGGGCTCC	0.711													5	154					0	0	1	0	0	A	8550640	G	A	8550640	3	1	151	1	0	0	0	0	1	0	0	0	7312	1087	38	1	1382	1	HNRNPM	19	8550640	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08		8550640	50578343	11	2606											
CLIP3	25999	broad.mit.edu	37	19	36523167	36523167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:36523167delG	ENST00000360535.4	-	2	320	c.93delC	c.(91-93)ccfs	p.P31fs	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	31					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGTGGGGCTGGGGGCCTCGG	0.662													2	4	---	---	---	---						-	36523167	G	-	36523167	7	5	151	1	0	1	0	1	0	0	0	0	3557	1335	47	0	1602	0	CLIP3	19	36523167	Frame_Shift_Del	DEL	G	TCGA-WB-A814-01A-11D-A35I-08	27972527	36523167	22605816	12	2607											
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggg>gg	p.GG80del	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---						-	109561060	CCG	-	109561058	7	5	151	1	0	1	0	1	0	0	0	0	574	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-WB-A814-01A-11D-A35I-08		109561058	45709502	13	2608											
H6PD	9563	broad.mit.edu	37	1	9322245	9322245	+	Silent	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:9322245G>A	ENST00000377403.2	+	4	1175	c.873G>A	c.(871-873)cgG>cgA	p.R291R	H6PD_ENST00000602477.1_Silent_p.R302R	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	291	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CTGTGCTGCGGCACAAGCTTC	0.642													3	20					0	0	1	0	0	A	9322245	G	A	9322245	2	1	152	1	0	0	0	0	0	0	0	1	6977	1190	42	3		3	H6PD	1	9322245	Silent	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		9322245	239928376	1	2609											
CD101	9398	broad.mit.edu	37	1	117564514	117564514	+	Silent	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:117564514T>C	ENST00000256652.4	+	7	2395	c.2337T>C	c.(2335-2337)gcT>gcC	p.A779A	CD101_ENST00000369470.1_Silent_p.A779A	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	779	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCACTGTGCTGTGGAGGAAT	0.433													28	50					0	0	1	0	0	C	117564514	T	C	117564514	2	2	152	1	0	0	0	0	0	0	0	1	2984	1567	55	4		4	CD101	1	117564514	Silent	SNP	T	TCGA-WB-A815-01A-11D-A35I-08	108242269	117564514	131686107	2	2610											
C1orf56	54964	broad.mit.edu	37	1	151020749	151020749	+	Silent	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:151020749T>C	ENST00000368926.5	+	1	534	c.426T>C	c.(424-426)aaT>aaC	p.N142N		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	142						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTATAGCCAATAGTCAGGAGC	0.592											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	47					0	0	1	0	0	C	151020749	T	C	151020749	2	2	152	1	0	0	0	0	0	0	0	1	2062	1403	49	4		4	C1orf56	1	151020749	Silent	SNP	T	TCGA-WB-A815-01A-11D-A35I-08	33456235	151020749	98229872	3	2611											
CLK2	1196	broad.mit.edu	37	1	155234529	155234529	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:155234529G>A	ENST00000368361.4	-	9	1285	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W			P49760	CLK2_HUMAN	CDC-like kinase 2	324	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTACCACCCGCACAGCTGTG	0.532								Other conserved DNA damage response genes					4	54					0	0	1	0	0	A	155234529	G	A	155234529	3	1	152	1	0	0	0	0	1	0	0	0	3560	1086	38	1	549	1	CLK2	1	155234529	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08	4213780	155234529	94016092	4	2612											
CNST	163882	broad.mit.edu	37	1	246754968	246754968	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:246754968C>T	ENST00000366513.4	+	2	373	c.104C>T	c.(103-105)gCa>gTa	p.A35V	CNST_ENST00000366512.3_Missense_Mutation_p.A35V|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	35					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CTGCCTTCTGCATCAGATGAA	0.498													17	64					0	0	1	0	0	T	246754968	C	T	246754968	3	4	152	1	0	0	0	0	1	0	0	0	3657	710	25	3	106	3	CNST	1	246754968	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	91520439	246754968	2495653	5	2613											
BUB1	699	broad.mit.edu	37	2	111413372	111413372	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:111413372G>A	ENST00000535254.1	-	15	1827	c.1760C>T	c.(1759-1761)gCg>gTg	p.A587V	BUB1_ENST00000302759.6_Missense_Mutation_p.A607V|BUB1_ENST00000409311.1_Missense_Mutation_p.A607V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGTGTAGACGCAAGTTGTGC	0.463													4	136					0	0	1	0	0	A	111413372	G	A	111413372	3	1	152	1	0	0	0	0	1	0	0	0	1573	1087	38	1	1477	1	BUB1	2	111413372	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		111413372	131786001	6	2614											
MERTK	10461	broad.mit.edu	37	2	112722783	112722783	+	Missense_Mutation	SNP	C	C	T	rs35252762	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:112722783C>T	ENST00000295408.4	+	5	1030	c.773C>T	c.(772-774)gCg>gTg	p.A258V	MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	258	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACGGAGATGGCGGTCTTCAGT	0.502													4	44					0	0	1	0	0	T	112722783	C	T	112722783	3	4	152	1	0	0	0	0	1	0	0	0	9529	768	27	1	791	1	MERTK	2	112722783	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	1309411	112722783	130476590	7	2615											
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:65425585C>T	ENST00000330909.8	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	38					0	0	1	0	0	T	65425585	C	T	65425585	2	4	152	1	0	0	0	0	0	0	0	1	9240	796	28	3		3	MAGI1	3	65425585	Silent	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		65425585	132596845	8	2616											
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													4	97					0	0	1	0	0	T	152554482	C	T	152554482	3	4	152	1	0	0	0	0	1	0	0	0	11393	739	26	3	913	3	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	87128897	152554482	45467948	9	2617											
ACOT12	134526	broad.mit.edu	37	5	80640854	80640854	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr5:80640854T>G	ENST00000307624.3	-	8	808	c.780A>C	c.(778-780)gaA>gaC	p.E260D		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	260	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GAACTCCAACTTCAACACTGT	0.577													23	21					0	0	1	0	0	G	80640854	T	G	80640854	3	3	152	1	0	0	0	0	1	0	0	0	150	1606	56	5	919	5	ACOT12	5	80640854	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		80640854	100274406	10	2618											
TINAG	27283	broad.mit.edu	37	6	54191706	54191706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:54191706G>T	ENST00000259782.4	+	4	712	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	206					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCATGAATGAAATGACAGT	0.368													10	28					0.000442599	0.000454894	1	1	0	T	54191706	G	T	54191706	4	4	152	1	0	0	0	0	0	1	0	0	15981	1291	45	5	630	5	TINAG	6	54191706	Nonsense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		54191706	116923361	11	2619											
UTRN	7402	broad.mit.edu	37	6	144761510	144761510	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:144761510C>T	ENST00000367545.3	+	12	1415	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	472	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATCTTGAGGCTGAACAGGTG	0.358													8	29					0	0	1	0	0	T	144761510	C	T	144761510	3	4	152	1	0	0	0	0	1	0	0	0	17163	797	28	3	1461	3	UTRN	6	144761510	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	90569804	144761510	26353557	12	2620											
GPNMB	10457	broad.mit.edu	37	7	23296635	23296635	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:23296635C>G	ENST00000258733.4	+	4	787	c.492C>G	c.(490-492)caC>caG	p.H164Q	GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000381990.2_Missense_Mutation_p.H164Q|GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q|GPNMB_ENST00000453162.2_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	164					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTTTCCTCACCACCCCGGAT	0.463													21	81					0	0	1	0	0	G	23296635	C	G	23296635	3	3	152	1	0	0	0	0	1	0	0	0	6660	506	18	5	506	5	GPNMB	7	23296635	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		23296635	135842028	13	2621											
GLI3	2737	broad.mit.edu	37	7	42085066	42085066	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:42085066C>T	ENST00000395925.3	-	6	827	c.743G>A	c.(742-744)cGc>cAc	p.R248H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	248					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATAGGGGCTGCGCTGGCCAGT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				59	61					0	0	1	0	0	T	42085066	C	T	42085066	3	4	152	1	0	0	0	0	1	0	0	0	6481	768	27	1	4039	1	GLI3	7	42085066	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	18788431	42085066	117053597	14	2622											
HSDL2	84263	broad.mit.edu	37	9	115200815	115200815	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr9:115200815C>G	ENST00000398805.3	+	7	930	c.703C>G	c.(703-705)Cca>Gca	p.P235A	HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	235						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTTCCAAAAGCCAAAAAGTTT	0.358													20	43					0	0	1	0	0	G	115200815	C	G	115200815	3	3	152	1	0	0	0	0	1	0	0	0	7435	739	26	5	729	5	HSDL2	9	115200815	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		115200815	26012616	15	2623											
UPF2	26019	broad.mit.edu	37	10	12071006	12071006	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:12071006T>C	ENST00000356352.2	-	2	1356	c.883A>G	c.(883-885)Att>Gtt	p.I295V	UPF2_ENST00000357604.5_Missense_Mutation_p.I295V|UPF2_ENST00000397053.2_Missense_Mutation_p.I295V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	295	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCAGCATTAATAATATTTTTT	0.368													18	48					0	0	1	0	0	C	12071006	T	C	12071006	3	2	152	1	0	0	0	0	1	0	0	0	17064	1406	49	4	3015	4	UPF2	10	12071006	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		12071006	123463741	16	2624											
OGDHL	55753	broad.mit.edu	37	10	50948877	50948877	+	Silent	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:50948877C>G	ENST00000374103.4	-	16	2104	c.2019G>C	c.(2017-2019)cgG>cgC	p.R673R	OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	673					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAACATGGTGCCGGTGACTGC	0.637													4	46					0	0	1	0	0	G	50948877	C	G	50948877	2	3	152	1	0	0	0	0	0	0	0	1	10888	726	26	5		5	OGDHL	10	50948877	Silent	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	38877871	50948877	84585870	17	2625											
LOXL4	84171	broad.mit.edu	37	10	100015403	100015403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:100015403delG	ENST00000260702.3	-	10	1672	c.1522delC	c.(1522-1524)agfs	p.Q508fs	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	508	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCGTGCCTCTGGCACTGCTGC	0.667													15	48	---	---	---	---						-	100015403	G	-	100015403	7	5	152	1	0	1	0	1	0	0	0	0	8947	1357	47	0	772	0	LOXL4	10	100015403	Frame_Shift_Del	DEL	G	TCGA-WB-A815-01A-11D-A35I-08	49066526	100015403	35519344	18	2626											
RRAS2	22800	broad.mit.edu	37	11	14317330	14317330	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr11:14317330T>A	ENST00000545643.1	-	2	511	c.198A>T	c.(196-198)agA>agT	p.R66S	RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.R60S	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	60						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GCCGGGCTGCTCTGTCATCTA	0.308													70	34					0	0	1	0	0	A	14317330	T	A	14317330	3	1	152	1	0	0	0	0	1	0	0	0	13729	1548	54	5	454	5	RRAS2	11	14317330	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		14317330	120689186	19	2627											
RAD51AP1	10635	broad.mit.edu	37	12	4665596	4665596	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr12:4665596G>C	ENST00000228843.9	+	9	900	c.850G>C	c.(850-852)Gat>Cat	p.D284H	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D267H	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	284					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTGTCTTCAGATACCACTAG	0.423													22	52					0	0	1	0	0	C	4665596	G	C	4665596	3	2	152	1	0	0	0	0	1	0	0	0	13038	942	33	5	884	5	RAD51AP1	12	4665596	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		4665596	129186299	20	2628											
PIK3R5	23533	broad.mit.edu	37	17	8789897	8789897	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr17:8789897G>A	ENST00000447110.1	-	13	2055	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	644					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCCTCCAGGGCCTGGGCTTC	0.602													19	23					0	0	1	0	0	A	8789897	G	A	8789897	3	1	152	1	0	0	0	0	1	0	0	0	11970	1203	42	3	739	3	PIK3R5	17	8789897	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		8789897	72405313	21	2629											
CEP192	55125	broad.mit.edu	37	18	13049394	13049394	+	Silent	SNP	A	A	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:13049394A>G	ENST00000506447.1	+	16	2684	c.2604A>G	c.(2602-2604)acA>acG	p.T868T	CEP192_ENST00000430049.2_Silent_p.T393T|CEP192_ENST00000325971.8_Silent_p.T272T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	463										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTCAGTTACAAATAGAGAGA	0.363													14	45					0	0	1	0	0	G	13049394	A	G	13049394	2	3	152	1	0	0	0	0	0	0	0	1	3273	117	5	4		4	CEP192	18	13049394	Silent	SNP	A	TCGA-WB-A815-01A-11D-A35I-08		13049394	65027854	22	2630											
DYM	54808	broad.mit.edu	37	18	46858298	46858298	+	Silent	SNP	G	G	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:46858298G>T	ENST00000269445.6	-	8	1156	c.699C>A	c.(697-699)gcC>gcA	p.A233A	DYM_ENST00000578396.1_Silent_p.A78A|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	233						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGAAAACATGGGCCCCTGGAG	0.403													3	45					0.00024832	0.00026251	1	1	0	T	46858298	G	T	46858298	2	4	152	1	0	0	0	0	0	0	0	1	4866	1219	43	5		5	DYM	18	46858298	Silent	SNP	G	TCGA-WB-A815-01A-11D-A35I-08	33808904	46858298	31218950	23	2631											
PIGP	51227	broad.mit.edu	37	21	38444872	38444872	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr21:38444872T>G	ENST00000464265.1	-	1	239	c.16A>C	c.(16-18)Aca>Cca	p.T6P	PIGP_ENST00000399098.1_Intron|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000360525.3_Intron	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	6					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GCCAGCGATGTGCTCCGTGGC	0.607													49	36					0	0	1	0	0	G	38444872	T	G	38444872	3	3	152	1	0	0	0	0	1	0	0	0	11943	1696	59	5	476	5	PIGP	21	38444872	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		38444872	9685023	24	2632											
LRP8	7804	broad.mit.edu	37	1	53728167	53728167	+	Silent	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:53728167C>T	ENST00000306052.6	-	11	1826	c.1725G>A	c.(1723-1725)cgG>cgA	p.R575R	LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	575					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCAGTGTTTGCCGGTCCACAC	0.512													4	145					0	0	1	0	0	T	53728167	C	T	53728167	2	4	153	1	0	0	0	0	0	0	0	1	9008	726	26	3		3	LRP8	1	53728167	Silent	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		53728167	195522454	1	2633											
CDC73	79577	broad.mit.edu	37	1	193219826	193219826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:193219826C>A	ENST00000367435.3	+	17	1764	c.1580C>A	c.(1579-1581)tCg>tAg	p.S527*	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	527					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAGCATAAATCGCACTTGAGA	0.294													4	40					0.014758	0.014758	1	1	0	A	193219826	C	A	193219826	4	1	153	1	0	0	0	0	0	1	0	0	3107	893	31	5	1646	5	CDC73	1	193219826	Nonsense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	139491659	193219826	56030795	2	2634											
SHISA4	149345	broad.mit.edu	37	1	201860531	201860531	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:201860531C>G	ENST00000362011.6	+	4	669	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	128						integral to membrane				kidney(1)|lung(4)	5						CCATCTAGGCCAGGAGATTCC	0.592													7	57					0	0	1	0	0	G	201860531	C	G	201860531	3	3	153	1	0	0	0	0	1	0	0	0	14337	595	21	5	396	5	SHISA4	1	201860531	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	8640705	201860531	47390090	3	2635											
TRAK2	66008	broad.mit.edu	37	2	202272251	202272251	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr2:202272251T>A	ENST00000332624.3	-	3	589	c.161A>T	c.(160-162)tAt>tTt	p.Y54F	TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	54						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TTTTAGCCTATACTGTGGTAG	0.448													18	46					0	0	1	0	0	A	202272251	T	A	202272251	3	1	153	1	0	0	0	0	1	0	0	0	16511	1406	49	5	2639	5	TRAK2	2	202272251	Missense_Mutation	SNP	T	TCGA-WB-A816-01A-11D-A35I-08		202272251	40927122	4	2636											
GDAP1	54332	broad.mit.edu	37	8	75263599	75263599	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr8:75263599C>T	ENST00000220822.7	+	2	288	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	70	GST N-terminal.					cytoplasm		p.R70C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTGGTTTATGCGTTTGAACTC	0.453													4	180					0	0	1	0	0	T	75263599	C	T	75263599	3	4	153	1	0	0	0	0	1	0	0	0	6348	768	27	1	214	1	GDAP1	8	75263599	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		75263599	71100423	5	2637											
YME1L1	10730	broad.mit.edu	37	10	27409416	27409416	+	Silent	SNP	T	T	C			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:27409416T>C	ENST00000326799.3	-	14	1678	c.1530A>G	c.(1528-1530)aaA>aaG	p.K510K	YME1L1_ENST00000376016.3_Silent_p.K453K|YME1L1_ENST00000375972.3_Silent_p.K420K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	510					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTTCGACCTTTTACATCTG	0.313													3	58					0	0	1	0	0	C	27409416	T	C	27409416	2	2	153	1	0	0	0	0	0	0	0	1	17547	1606	56	4		4	YME1L1	10	27409416	Silent	SNP	T	TCGA-WB-A816-01A-11D-A35I-08		27409416	108125331	6	2638											
SORBS1	10580	broad.mit.edu	37	10	97141496	97141496	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:97141496C>A	ENST00000371247.2	-	18	1788	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000361941.3_Missense_Mutation_p.K533N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	533					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGTAAATGCTCTTGGGCTCTG	0.398													13	54					2.27111e-07	2.4686e-07	1	1	0	A	97141496	C	A	97141496	3	1	153	1	0	0	0	0	1	0	0	0	14981	912	32	5	2407	5	SORBS1	10	97141496	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	69732080	97141496	38393251	7	2639											
ST14	6768	broad.mit.edu	37	11	130068267	130068267	+	Silent	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr11:130068267C>T	ENST00000278742.5	+	13	1942	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	508	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCTGGGTCTGCGACAGTGTGA	0.672													4	125					0	0	1	0	0	T	130068267	C	T	130068267	2	4	153	1	0	0	0	0	0	0	0	1	15267	776	27	1		1	ST14	11	130068267	Silent	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		130068267	4938249	8	2640											
CTDSP2	10106	broad.mit.edu	37	12	58217721	58217721	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:58217721G>C	ENST00000398073.2	-	7	959	c.656C>G	c.(655-657)tCg>tGg	p.S219W	CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	219	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					AGAAGCAGGCGAGTTGTCCAG	0.582													6	18					0	0	1	0	0	C	58217721	G	C	58217721	3	2	153	1	0	0	0	0	1	0	0	0	4028	1059	37	5	167	5	CTDSP2	12	58217721	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		58217721	75634174	9	2641											
MYO1H	283446	broad.mit.edu	37	12	109844593	109844593	+	Splice_Site	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:109844593G>A	ENST00000310903.5	+	9	1021		c.e9-1		MYO1H_ENST00000431443.2_Splice_Site|MYO1H_ENST00000542883.1_Splice_Site			B4DNW6	B4DNW6_HUMAN	myosin IH							myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTACATGCAGCTCCTGGGGG	0.433													7	40					0	0	1	0	0	A	109844593	G	A	109844593	5	1	153	1	0	0	0	0	0	0	1	0	10123	985	34	3	945	3	MYO1H	12	109844593	Splice_Site	SNP	G	TCGA-WB-A816-01A-11D-A35I-08	51626872	109844593	24007302	10	2642											
OXA1L	5018	broad.mit.edu	37	14	23235834	23235834	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:23235834G>A	ENST00000285848.5	+	1	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H		NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTTCATGCCCGCCTCCAAAAG	0.522													4	137					0	0	1	0	0	A	23235834	G	A	23235834	3	1	153	1	0	0	0	0	1	0	0	0	11375	1087	38	1	106	1	OXA1L	14	23235834	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		23235834	84113706	11	2643											
GPR135	64582	broad.mit.edu	37	14	59930963	59930963	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:59930963G>A	ENST00000395116.1	-	1	1097	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTGGCCGTGCGCACCTCGCTG	0.672													3	31					0	0	1	0	0	A	59930963	G	A	59930963	3	1	153	1	0	0	0	0	1	0	0	0	6684	1087	38	1	506	1	GPR135	14	59930963	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08	36695129	59930963	47418577	12	2644											
COG7	91949	broad.mit.edu	37	16	23456408	23456408	+	Silent	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456408G>A	ENST00000307149.5	-	3	581	c.396C>T	c.(394-396)agC>agT	p.S132S		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CGCTCAACGTGCTCCACTTAT	0.448													29	92					0	0	1	0	0	A	23456408	G	A	23456408	2	1	153	1	0	0	0	0	0	0	0	1	3686	1310	46	3		3	COG7	16	23456408	Silent	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		23456408	66898345	13	2645	19	2									
COG7	91949	broad.mit.edu	37	16	23456409	23456409	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456409C>T	ENST00000307149.5	-	3	580	c.395G>A	c.(394-396)aGc>aAc	p.S132N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTCAACGTGCTCCACTTATC	0.443													29	89					0	0	1	0	0	T	23456409	C	T	23456409	3	4	153	1	0	0	0	0	1	0	0	0	3686	797	28	3	1977	3	COG7	16	23456409	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	1	23456409	66898344	14	2646	19	2									
IRX6	79190	broad.mit.edu	37	16	55361281	55361281	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:55361281C>T	ENST00000290552.7	+	3	1709	c.377C>T	c.(376-378)cCc>cTc	p.P126L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P126L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCTATTATCCCTATGAGCGG	0.512													14	48					0	0	1	0	0	T	55361281	C	T	55361281	3	4	153	1	0	0	0	0	1	0	0	0	7892	623	22	3	387	3	IRX6	16	55361281	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	31904872	55361281	34993472	15	2647											
SLC9A8	23315	broad.mit.edu	37	20	48491289	48491289	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr20:48491289C>A	ENST00000417961.1	+	11	1264	c.1054C>A	c.(1054-1056)Cac>Aac	p.H352N	SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.H336N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	336						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCACTACACGCACCATAACCT	0.557													15	52					4.14922e-12	4.71502e-12	1	1	0	A	48491289	C	A	48491289	3	1	153	1	0	0	0	0	1	0	0	0	14775	710	25	5	1048	5	SLC9A8	20	48491289	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		48491289	14534231	16	2648											
ZNF182	7569	broad.mit.edu	37	X	47836774	47836774	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:47836774C>T	ENST00000396965.1	-	7	1062	c.712G>A	c.(712-714)Gca>Aca	p.A238T	ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T|ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTCCTACATGCAGTACATTCA	0.418													11	101					0	0	1	0	0	T	47836774	C	T	47836774	3	4	153	1	0	0	0	0	1	0	0	0	17808	710	25	3	1211	3	ZNF182	23	47836774	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		47836774	107433786	17	2649											
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													3	4	---	---	---	---						-	50350713	TCC	-	50350711	7	5	153	1	0	1	0	1	0	0	0	0	14351	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-WB-A816-01A-11D-A35I-08	2513937	50350711	104919849	18	2650											
HMCN1	83872	broad.mit.edu	37	1	186008083	186008083	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr1:186008083G>A	ENST00000271588.4	+	38	6203	c.5974G>A	c.(5974-5976)Gtg>Atg	p.V1992M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1992	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATAAATGCGTGGCCATCAA	0.438													4	80					0	0	1	0	0	A	186008083	G	A	186008083	3	1	154	1	0	0	0	0	1	0	0	0	7261	1145	40	1	6124	1	HMCN1	1	186008083	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		186008083	63242538	1	2651											
PARD3B	117583	broad.mit.edu	37	2	205829978	205829978	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:205829978C>T	ENST00000406610.2	+	3	533	c.326C>T	c.(325-327)gCc>gTc	p.A109V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A109V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	109					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGAAGTGGCCGCCCAACTG	0.468													4	56					0	0	1	0	0	T	205829978	C	T	205829978	3	4	154	1	0	0	0	0	1	0	0	0	11491	739	26	3	336	3	PARD3B	2	205829978	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		205829978	37369395	2	2652											
DNER	92737	broad.mit.edu	37	2	230272009	230272009	+	Silent	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:230272009G>A	ENST00000341772.4	-	10	1796	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	554	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGTGGCTCCGTTCAGACAGC	0.517													22	57					0	0	1	0	0	A	230272009	G	A	230272009	2	1	154	1	0	0	0	0	0	0	0	1	4694	1136	40	1		1	DNER	2	230272009	Silent	SNP	G	TCGA-WB-A817-01A-11D-A35I-08	24442031	230272009	12927364	3	2653											
CACNA1D	776	broad.mit.edu	37	3	53757871	53757879	+	In_Frame_Del	DEL	TCCATCGCT	TCCATCGCT	-	rs139269186		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr3:53757871_53757879delTCCATCGCT	ENST00000288139.3	+	15	2123_2131	c.2005_2013delTCCATCGCT	c.(2005-2013)del	p.SIA669del	CACNA1D_ENST00000422281.2_In_Frame_Del_p.SIA649del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.SIA649del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	649					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCCATGAAGTCCATCGCTTCGCTGTTGC	0.455													19	113	---	---	---	---						-	53757879	TCCATCGCT	-	53757871	7	5	154	1	0	1	0	1	0	0	0	0	2559	1667	58	0	2171	0	CACNA1D	3	53757871	In_Frame_Del	DEL	TCCATCGCT	TCGA-WB-A817-01A-11D-A35I-08		53757871	144264559	4	2654											
JARID2	3720	broad.mit.edu	37	6	15501192	15501192	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr6:15501192G>A	ENST00000341776.2	+	8	2244	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	JARID2_ENST00000397311.3_Missense_Mutation_p.G495D|JARID2_ENST00000541660.1_Missense_Mutation_p.G629D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	667	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGATGGGCGGCATGCAGCAA	0.562													4	124					0	0	1	0	0	A	15501192	G	A	15501192	3	1	154	1	0	0	0	0	1	0	0	0	7989	1203	42	3	2030	3	JARID2	6	15501192	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		15501192	155613875	5	2655											
DGKB	1607	broad.mit.edu	37	7	14652983	14652983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr7:14652983delC	ENST00000403951.2	-	16	1762	c.1343delG	c.(1342-1344)gtfs	p.G449fs	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	449	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTGTTTTCCACCACTTTTGGG	0.318													2	4	---	---	---	---						-	14652983	C	-	14652983	7	5	154	1	0	1	0	1	0	0	0	0	4494	507	18	0	1130	0	DGKB	7	14652983	Frame_Shift_Del	DEL	C	TCGA-WB-A817-01A-11D-A35I-08		14652983	144485680	6	2656											
TTC17	55761	broad.mit.edu	37	11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473													4	93					0	0	1	0	0	T	43471655	C	T	43471655	3	4	154	1	0	0	0	0	1	0	0	0	16746	739	26	3	2888	3	TTC17	11	43471655	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		43471655	91534861	7	2657											
RNF17	56163	broad.mit.edu	37	13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403													4	72					0	0	1	0	0	T	25451163	C	T	25451163	3	4	154	1	0	0	0	0	1	0	0	0	13513	759	27	1	4746	1	RNF17	13	25451163	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		25451163	89718715	8	2658											
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													6	289					0	0	1	0	0	A	105409977	G	A	105409977	2	1	154	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		105409977	1939563	9	2659											
MGA	23269	broad.mit.edu	37	15	42035001	42035001	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:42035001A>G	ENST00000219905.7	+	15	5024	c.4843A>G	c.(4843-4845)Atg>Gtg	p.M1615V	MGA_ENST00000570161.1_Missense_Mutation_p.M1615V|MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V|MGA_ENST00000566586.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1615	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTGACACCTATGACTGCTAT	0.463													16	36					0	0	1	0	0	G	42035001	A	G	42035001	3	3	154	1	0	0	0	0	1	0	0	0	9590	449	16	4	4897	4	MGA	15	42035001	Missense_Mutation	SNP	A	TCGA-WB-A817-01A-11D-A35I-08		42035001	60496391	10	2660											
RPS27L	51065	broad.mit.edu	37	15	63447932	63447932	+	Splice_Site	SNP	T	T	C			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:63447932T>C	ENST00000330964.5	-	3	512		c.e3-2		RPS27L_ENST00000455271.1_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000462430.1_Splice_Site	NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN	ribosomal protein S27-like						DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity			large_intestine(1)	1						TGTAGCAACCTAAAAAAAAAA	0.398													4	17					0	0	1	0	0	C	63447932	T	C	63447932	5	2	154	1	0	0	0	0	0	0	1	0	13692	1536	53	4	148	4	RPS27L	15	63447932	Splice_Site	SNP	T	TCGA-WB-A817-01A-11D-A35I-08	21412931	63447932	39083460	11	2661											
CD300C	10871	broad.mit.edu	37	17	72539104	72539104	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr17:72539104G>T	ENST00000330793.1	-	3	783	c.423C>A	c.(421-423)agC>agA	p.S141R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	141	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTCTGGGGGCTGGAGGCTG	0.607													7	29					0.00448238	0.0049056	1	1	0	T	72539104	G	T	72539104	3	4	154	1	0	0	0	0	1	0	0	0	3019	1194	42	5	259	5	CD300C	17	72539104	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		72539104	8656106	12	2662											
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													3	37					0	0	1	0	0	T	971939	C	T	971939	2	4	154	1	0	0	0	0	0	0	0	1	913	755	27	1		1	ARID3A	19	971939	Silent	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		971939	58157044	13	2663											
MYADM	91663	broad.mit.edu	37	19	54377573	54377573	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:54377573G>A	ENST00000391769.2	+	3	1070	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N|MYADM_ENST00000391771.1_Missense_Mutation_p.D264N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	264	MARVEL 2.					integral to membrane		p.D264Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CTACCAGTTCGATGAGAAGTA	0.637													3	42					0	0	1	0	0	A	54377573	G	A	54377573	3	1	154	1	0	0	0	0	1	0	0	0	10054	1058	37	2	792	2	MYADM	19	54377573	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08	53405634	54377573	4751410	14	2664											
RGN	9104	broad.mit.edu	37	X	46951083	46951083	+	Missense_Mutation	SNP	G	G	T	rs147490967	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chrX:46951083G>T	ENST00000397180.1	+	6	1538	c.569G>T	c.(568-570)cGc>cTc	p.R190L	RGN_ENST00000352078.4_Missense_Mutation_p.R190L|RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	190					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATAGCCAACCGCAGAAGTGTT	0.428													3	21					0.004672	0.0049056	1	1	0	T	46951083	G	T	46951083	3	4	154	1	0	0	0	0	1	0	0	0	13334	1087	38	5	583	5	RGN	23	46951083	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		46951083	108319477	15	2665											
TRIM17	51127	broad.mit.edu	37	1	228596776	228596776	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr1:228596776G>C	ENST00000456946.2	-	6	1355	c.980C>G	c.(979-981)tCt>tGt	p.S327C	TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGCACTTGTAGAACCCCCCCC	0.572													9	22					0	0	1	0	0	C	228596776	G	C	228596776	3	2	155	1	0	0	0	0	1	0	0	0	16554	942	33	5	610	5	TRIM17	1	228596776	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		228596776	20653845	1	2666											
TTN	7273	broad.mit.edu	37	2	179455982	179455982	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:179455982G>T	ENST00000589042.1	-	304	60694	c.60470C>A	c.(60469-60471)gCc>gAc	p.A20157D	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18516	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTACCGGCTGCATTGGA	0.423													4	163					1	1	1	1	0	T	179455982	G	T	179455982	3	4	155	1	0	0	0	0	1	0	0	0	16797	1203	42	5	47745	5	TTN	2	179455982	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		179455982	63743391	2	2667											
PPP6C	5537	broad.mit.edu	37	9	127915922	127915922	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr9:127915922G>A	ENST00000451402.1	-	7	890	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H187Y	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	187					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCTCCTTTATGAGGAATTTCC	0.438													4	48					0	0	1	0	0	A	127915922	G	A	127915922	3	1	155	1	0	0	0	0	1	0	0	0	12456	1290	45	3	366	3	PPP6C	9	127915922	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		127915922	13297509	3	2668											
SORBS1	10580	broad.mit.edu	37	10	97131803	97131803	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr10:97131803G>A	ENST00000371247.2	-	20	1930	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000361941.3_Missense_Mutation_p.P581S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	581					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTTTTTGGGAGGCTGACGG	0.478													8	13					0	0	1	0	0	A	97131803	G	A	97131803	3	1	155	1	0	0	0	0	1	0	0	0	14981	1174	41	3	2257	3	SORBS1	10	97131803	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		97131803	38402944	4	2669											
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr14:64685207C>T	ENST00000357395.3	+	109	19864	c.8720C>T	c.(8719-8721)gCc>gTc	p.A2907V	SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527													3	11					0	0	1	0	0	T	64685207	C	T	64685207	3	4	155	1	0	0	0	0	1	0	0	0	15503	739	26	3	20064	3	SYNE2	14	64685207	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		64685207	42664333	5	2670											
MEFV	4210	broad.mit.edu	37	16	3306389	3306389	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr16:3306389C>T	ENST00000219596.1	-	1	238	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	67	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GTGAGCTGCACGGCGTACTCT	0.657													15	39					0	0	1	0	0	T	3306389	C	T	3306389	3	4	155	1	0	0	0	0	1	0	0	0	9509	536	19	1	2186	1	MEFV	16	3306389	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		3306389	87048364	6	2671											
MYH8	4626	broad.mit.edu	37	17	10305000	10305000	+	Missense_Mutation	SNP	C	C	T	rs142137577		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:10305000C>T	ENST00000403437.2	-	23	2885	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	931					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTCCTCCTCCTCAGCTCTT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	90					0	0	1	0	0	T	10305000	C	T	10305000	3	4	155	1	0	0	0	0	1	0	0	0	10089	864	30	3	3094	3	MYH8	17	10305000	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		10305000	70890210	7	2672											
NF1	4763	broad.mit.edu	37	17	29667527	29667528	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:29667527_29667528delCG	ENST00000358273.4	+	47	7309_7310	c.6926_6927delCG	c.(6925-6927)tfs	p.S2309fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCCAGGACTCGCCTCTGCACA	0.441			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	16	---	---	---	---						-	29667528	CG	-	29667527	7	5	155	1	0	1	0	1	0	0	0	0	10403	893	31	0	7173	0	NF1	17	29667527	Frame_Shift_Del	DEL	CG	TCGA-WB-A818-01A-11D-A35I-08	19362527	29667527	51527683	8	2673											
DMKN	93099	broad.mit.edu	37	19	36004008	36004008	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr19:36004008C>T	ENST00000339686.3	-	1	546	c.370G>A	c.(370-372)Gga>Aga	p.G124R	DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R|DMKN_ENST00000418261.1_Missense_Mutation_p.G124R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	124	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATCTGCTCCGTGTCGAATG	0.617													8	9					0	0	1	0	0	T	36004008	C	T	36004008	3	4	155	1	0	0	0	0	1	0	0	0	4610	661	23	2	1441	2	DMKN	19	36004008	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		36004008	23124975	9	2674											
USP9X	8239	broad.mit.edu	37	X	40990708	40990708	+	Splice_Site	SNP	A	A	G			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:40990708A>G	ENST00000324545.7	+	4	875		c.e4-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAACTTTTAGGCCTCGATG	0.323													3	45					0	0	1	0	0	G	40990708	A	G	40990708	5	3	155	1	0	0	0	0	0	0	1	0	17150	434	15	4	251	4	USP9X	23	40990708	Splice_Site	SNP	A	TCGA-WB-A818-01A-11D-A35I-08		40990708	114279852	10	2675											
CCBL2	56267	broad.mit.edu	37	1	89427800	89427800	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr1:89427800C>A	ENST00000260508.4	-	6	819	c.482G>T	c.(481-483)tGc>tTc	p.C161F	CCBL2_ENST00000370491.3_Missense_Mutation_p.C127F|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	161					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGCTCATAGCAGTCATAGAA	0.378													3	41					1	1	1	1	0	A	89427800	C	A	89427800	3	1	156	1	0	0	0	0	1	0	0	0	2751	710	25	5	918	5	CCBL2	1	89427800	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		89427800	159822821	1	2676											
CACNA1S	779	broad.mit.edu	37	1	201029810	201029810	+	Silent	SNP	G	G	T	rs140294191		TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr1:201029810G>T	ENST00000362061.3	-	26	3616	c.3390C>A	c.(3388-3390)ctC>ctA	p.L1130L	CACNA1S_ENST00000367338.3_Silent_p.L1130L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1130					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGTGTTGAGCATGATGA	0.527													6	132					0.0215528	0.0238215	1	1	0	T	201029810	G	T	201029810	2	4	156	1	0	0	0	0	0	0	0	1	2565	1277	45	5		5	CACNA1S	1	201029810	Silent	SNP	G	TCGA-WB-A819-01A-11D-A35I-08	111602010	201029810	48220811	2	2677											
SULF1	23213	broad.mit.edu	37	8	70540461	70540461	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr8:70540461C>T	ENST00000260128.4	+	18	2815	c.2098C>T	c.(2098-2100)Cac>Tac	p.H700Y	SULF1_ENST00000402687.4_Missense_Mutation_p.H700Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H700Y|SULF1_ENST00000419716.3_Missense_Mutation_p.H700Y|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	700					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAGCCATCTTCACCCATTCAA	0.428													20	56					0	0	1	0	0	T	70540461	C	T	70540461	3	4	156	1	0	0	0	0	1	0	0	0	15426	826	29	3	2152	3	SULF1	8	70540461	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		70540461	75823561	3	2678											
SECISBP2	79048	broad.mit.edu	37	9	91972365	91972365	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr9:91972365C>T	ENST00000375807.3	+	15	2224	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A645V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A650V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	718					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATTGATTATGCCTGTGAGCAG	0.468													4	202					0	0	1	0	0	T	91972365	C	T	91972365	3	4	156	1	0	0	0	0	1	0	0	0	14060	739	26	3	2211	3	SECISBP2	9	91972365	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		91972365	49241066	4	2679											
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase.		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				35	81					0	0	1	0	0	C	43617416	T	C	43617416	3	2	156	1	0	0	0	0	1	0	0	0	13287	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		43617416	91917331	5	2680											
BBS2	583	broad.mit.edu	37	16	56545120	56545120	+	Missense_Mutation	SNP	T	T	C	rs144680278	by1000genomes	TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr16:56545120T>C	ENST00000245157.5	-	3	842	c.422A>G	c.(421-423)aAt>aGt	p.N141S	BBS2_ENST00000568104.1_Missense_Mutation_p.N141S|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	141					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CAGAGCACAATTGCCACCAAT	0.398									Bardet-Biedl syndrome				5	90					0	0	1	0	0	C	56545120	T	C	56545120	3	2	156	1	0	0	0	0	1	0	0	0	1336	1493	52	4	1803	4	BBS2	16	56545120	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		56545120	33809633	6	2681											
PRPF8	10594	broad.mit.edu	37	17	1577856	1577856	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr17:1577856T>C	ENST00000572621.1	-	20	3444	c.3179A>G	c.(3178-3180)gAg>gGg	p.E1060G	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1060G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1060						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCAGCCATCTCACTGGCCCG	0.517													9	109					0	0	1	0	0	C	1577856	T	C	1577856	3	2	156	1	0	0	0	0	1	0	0	0	12627	1551	54	4	3920	4	PRPF8	17	1577856	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		1577856	79617354	7	2682											
HEXDC	284004	broad.mit.edu	37	17	80400118	80400118	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr17:80400118C>A	ENST00000327949.9	+	12	1330	c.1319C>A	c.(1318-1320)cCg>cAg	p.P440Q	HEXDC_ENST00000337014.6_Silent_p.R470R|HEXDC_ENST00000577944.1_Silent_p.P442P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	440					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTCTACCCGGATGCCGTG	0.667													5	17					0.184627	0.193859	1	1	0	A	80400118	C	A	80400118	3	1	156	1	0	0	0	0	1	0	0	0	7116	643	23	5	1450	5	HEXDC	17	80400118	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08	78822262	80400118	795092	8	2683											
ZNF407	55628	broad.mit.edu	37	18	72776115	72776115	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr18:72776115C>G	ENST00000299687.5	+	8	6438	c.6438C>G	c.(6436-6438)atC>atG	p.I2146M		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652													4	9					0	0	1	0	0	G	72776115	C	G	72776115	3	3	156	1	0	0	0	0	1	0	0	0	17944	874	31	5	6598	5	ZNF407	18	72776115	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		72776115	5301133	9	2684											
HSPA12B	116835	broad.mit.edu	37	20	3732491	3732491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr20:3732491delC	ENST00000254963.2	+	13	1884	c.1739delC	c.(1738-1740)gcfs	p.A580fs	HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.A414fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	580							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TTCGTGGCCGCCGAGCAGTCG	0.716													2	4	---	---	---	---						-	3732491	C	-	3732491	7	5	156	1	0	1	0	1	0	0	0	0	7448	739	26	0	1785	0	HSPA12B	20	3732491	Frame_Shift_Del	DEL	C	TCGA-WB-A819-01A-11D-A35I-08		3732491	59293029	10	2685											
DPM1	8813	broad.mit.edu	37	20	49551759	49551759	+	Silent	SNP	A	A	G			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr20:49551759A>G	ENST00000371582.4	-	10	805	c.774T>C	c.(772-774)ttT>ttC	p.F258F	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Silent_p.F231F|DPM1_ENST00000371583.5_Silent_p.F226F|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	231					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CACGATCCACAAATGATATTG	0.318													36	95					0	0	1	0	0	G	49551759	A	G	49551759	2	3	156	1	0	0	0	0	0	0	0	1	4750	127	5	4		4	DPM1	20	49551759	Silent	SNP	A	TCGA-WB-A819-01A-11D-A35I-08	45819268	49551759	13473761	11	2686											
NID1	4811	broad.mit.edu	37	1	236154305	236154305	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr1:236154305C>T	ENST00000264187.6	-	14	2891	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	NID1_ENST00000366595.3_Missense_Mutation_p.V804M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	937					cell-matrix adhesion	basement membrane	calcium ion binding	p.V937M(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AAGGGGATCACGGCGGTAGGC	0.597													19	19					0	0	1	0	0	T	236154305	C	T	236154305	3	4	157	1	0	0	0	0	1	0	0	0	10461	536	19	1	962	1	NID1	1	236154305	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		236154305	13096316	1	2687											
DDX18	8886	broad.mit.edu	37	2	118582524	118582524	+	Silent	SNP	T	T	C			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr2:118582524T>C	ENST00000263239.2	+	9	1343	c.1215T>C	c.(1213-1215)gtT>gtC	p.V405V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	405	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGGATATGTTGTTTGTCCTT	0.363													6	62					0	0	1	0	0	C	118582524	T	C	118582524	2	2	157	1	0	0	0	0	0	0	0	1	4368	1799	63	4		4	DDX18	2	118582524	Silent	SNP	T	TCGA-WB-A81A-01A-11D-A35I-08		118582524	124616849	2	2688											
DLEC1	9940	broad.mit.edu	37	3	38104135	38104135	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr3:38104135G>A	ENST00000308059.6	+	5	958	c.937G>A	c.(937-939)Gac>Aac	p.D313N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	313					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGAGAGCTAGACAGACTTCT	0.428													3	33					0	0	1	0	0	A	38104135	G	A	38104135	3	1	157	1	0	0	0	0	1	0	0	0	4580	942	33	3	955	3	DLEC1	3	38104135	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		38104135	159918295	3	2689											
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)del	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													2	4	---	---	---	---						-	1038449	CAC	-	1038447	7	5	157	1	0	1	0	1	0	0	0	0	10489	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-WB-A81A-01A-11D-A35I-08		1038447	179876813	4	2690											
CPVL	54504	broad.mit.edu	37	7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T	rs5883182		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aatttgfs	p.NL417fs	CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	417					proteolysis		protein binding|serine-type carboxypeptidase activity	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51													10	296	---	---	---	---						T	29070262	-	T	29070261	7	5	157	1	0	1	1	0	0	0	0	0	3858	565	20	0	186	0	CPVL	7	29070261	Frame_Shift_Ins	INS	-	TCGA-WB-A81A-01A-11D-A35I-08		29070261	130068402	5	2691											
PPP3R2	5535	broad.mit.edu	37	9	104357180	104357180	+	Silent	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr9:104357180C>T	ENST00000374806.1	-	1	103	c.33G>A	c.(31-33)ccG>ccA	p.P11P	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	8							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ACATCTCCGCCGGGTAACTGG	0.582													37	46					0	0	1	0	0	T	104357180	C	T	104357180	2	4	157	1	0	0	0	0	0	0	0	1	12450	639	23	2		2	PPP3R2	9	104357180	Silent	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		104357180	36856251	6	2692											
UNC5B	219699	broad.mit.edu	37	10	73050842	73050842	+	Missense_Mutation	SNP	G	G	A	rs140003194		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr10:73050842G>A	ENST00000335350.6	+	9	1686	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	424					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.V424I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTTCCACCCCGTCAACTTTAA	0.602													5	226					0	0	1	0	0	A	73050842	G	A	73050842	3	1	157	1	0	0	0	0	1	0	0	0	17052	1145	40	1	1304	1	UNC5B	10	73050842	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		73050842	62483905	7	2693											
GLYATL1	92292	broad.mit.edu	37	11	58722339	58722339	+	Missense_Mutation	SNP	G	G	A	rs145603117		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:58722339G>A	ENST00000300079.5	+	5	426	c.376G>A	c.(376-378)Gta>Ata	p.V126I	GLYATL1_ENST00000317391.4_Missense_Mutation_p.V95I|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	95						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TTGTGAGATCGTAAACTGGAA	0.393													3	26					0	0	1	0	0	A	58722339	G	A	58722339	3	1	157	1	0	0	0	0	1	0	0	0	6522	1145	40	1	394	1	GLYATL1	11	58722339	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		58722339	76284177	8	2694											
OR10G8	219869	broad.mit.edu	37	11	123900690	123900690	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:123900690C>T	ENST00000431524.1	+	1	394	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCCTGTGATCGCTACCTGGC	0.562													5	106					0	0	1	0	0	T	123900690	C	T	123900690	3	4	157	1	0	0	0	0	1	0	0	0	10951	884	31	2	363	2	OR10G8	11	123900690	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08	65178351	123900690	11105826	9	2695											
PPL	5493	broad.mit.edu	37	16	4933851	4933851	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:4933851G>A	ENST00000345988.2	-	22	4894	c.4805C>T	c.(4804-4806)gCg>gTg	p.A1602V	PPL_ENST00000590782.2_Missense_Mutation_p.A1600V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1602					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCAGAGTCCGCCACGGTCAT	0.577													4	146					0	0	1	0	0	A	4933851	G	A	4933851	3	1	157	1	0	0	0	0	1	0	0	0	12383	1087	38	1	469	1	PPL	16	4933851	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		4933851	85420902	10	2696											
TPPP3	51673	broad.mit.edu	37	16	67424181	67424181	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:67424181C>T	ENST00000564104.1	-	3	1268	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S|TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	143					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGCCCTTGCCGCTCTCATCG	0.577													4	107					0	0	1	0	0	T	67424181	C	T	67424181	3	4	157	1	0	0	0	0	1	0	0	0	16476	652	23	2	107	2	TPPP3	16	67424181	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08	62490330	67424181	22930572	11	2697											
LRRC37B	114659	broad.mit.edu	37	17	30348408	30348408	+	Silent	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr17:30348408G>A	ENST00000327564.7	+	1	385	c.324G>A	c.(322-324)tcG>tcA	p.S108S	LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Silent_p.S81S|LRRC37B_ENST00000341671.7_Silent_p.S81S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	81						integral to membrane		p.S81S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGCTTCTTCGCAGATGTCAG	0.597													47	52					0	0	1	0	0	A	30348408	G	A	30348408	2	1	157	1	0	0	0	0	0	0	0	1	9039	1074	38	1		1	LRRC37B	17	30348408	Silent	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		30348408	50846802	12	2698											
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													6	521					0	0	1	0	0	C	4511859	T	C	4511859	3	2	157	1	0	0	0	0	1	0	0	0	12140	1464	51	4	2018	4	PLIN4	19	4511859	Missense_Mutation	SNP	T	TCGA-WB-A81A-01A-11D-A35I-08		4511859	54617124	13	2699											
LRRN4	164312	broad.mit.edu	37	20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)ccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682													2	4	---	---	---	---						-	6033401	G	-	6033401	7	5	157	1	0	1	0	1	0	0	0	0	9082	1335	47	0	2193	0	LRRN4	20	6033401	Frame_Shift_Del	DEL	G	TCGA-WB-A81A-01A-11D-A35I-08		6033401	56992119	14	2700											
TPTE	7179	broad.mit.edu	37	21	10934987	10934987	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr21:10934987C>T	ENST00000298232.7	-	14	1119	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000361285.4_Missense_Mutation_p.R269Q|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	269	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATCTAGAAACCGCACAACTTC	0.338													6	194					0	0	1	0	0	T	10934987	C	T	10934987	3	4	157	1	0	0	0	0	1	0	0	0	16491	652	23	2	889	2	TPTE	21	10934987	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		10934987	37194908	15	2701											
CLTCL1	8218	broad.mit.edu	37	22	19226895	19226895	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr22:19226895A>G	ENST00000263200.10	-	5	770	c.698T>C	c.(697-699)gTt>gCt	p.V233A	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	233	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGCTGTCCAACTTCAATGAT	0.488			T	?	ALCL								4	93					0	0	1	0	0	G	19226895	A	G	19226895	3	3	157	1	0	0	0	0	1	0	0	0	3590	43	2	4	4336	4	CLTCL1	22	19226895	Missense_Mutation	SNP	A	TCGA-WB-A81A-01A-11D-A35I-08		19226895	32077671	16	2702											
CHL1	10752	broad.mit.edu	37	3	382547	382547	+	Silent	SNP	A	A	G	rs146408628		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:382547A>G	ENST00000256509.2	+	6	1098	c.456A>G	c.(454-456)ccA>ccG	p.P152P	CHL1_ENST00000397491.2_Silent_p.P152P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	152	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCCTCCCATGCAATCCTC	0.383													21	29					0	0	1	0	0	G	382547	A	G	382547	2	3	158	1	0	0	0	0	0	0	0	1	3371	204	8	4		4	CHL1	3	382547	Silent	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08		382547	197639883	1	2703											
TDGF1	6997	broad.mit.edu	37	3	46620740	46620740	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:46620740T>C	ENST00000296145.5	+	3	840	c.107T>C	c.(106-108)tTt>tCt	p.F36S	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	36					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATCAGGAATTTGCTCGTCCA	0.507													9	47					0	0	1	0	0	C	46620740	T	C	46620740	3	2	158	1	0	0	0	0	1	0	0	0	15785	1841	64	4	117	4	TDGF1	3	46620740	Missense_Mutation	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08	46238193	46620740	151401690	2	2704											
DIRC2	84925	broad.mit.edu	37	3	122545710	122545710	+	Silent	SNP	A	A	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:122545710A>G	ENST00000261038.5	+	3	899	c.501A>G	c.(499-501)ccA>ccG	p.P167P		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	167					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATGCAGCACCATTTCTCTCTA	0.413													10	68					0	0	1	0	0	G	122545710	A	G	122545710	2	3	158	1	0	0	0	0	0	0	0	1	4562	204	8	4		4	DIRC2	3	122545710	Silent	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08	75924970	122545710	75476720	3	2705											
MAP1B	4131	broad.mit.edu	37	5	71491183	71491184	+	Frame_Shift_Ins	INS	-	-	CCTAC			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:71491183_71491184insCCTAC	ENST00000296755.7	+	5	2299_2300	c.2001_2002insCCTAC	c.(1999-2004)acctatfs	p.Y668fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	668	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGACAAAACACCTATCAAGaa	0.366													4	9	---	---	---	---						CCTAC	71491184	-	CCTAC	71491183	7	5	158	1	0	1	1	0	0	0	0	0	9278	146	6	0	2019	0	MAP1B	5	71491183	Frame_Shift_Ins	INS	-	TCGA-WB-A81D-01A-11D-A35I-08		71491183	109424077	4	2706											
PCDHB12	0	broad.mit.edu	37	5	140589813	140589813	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:140589813A>G	ENST00000239450.2	+	1	1523	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		445	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGACGTCAATGACAACGCC	0.597													6	81					0	0	1	0	0	G	140589813	A	G	140589813	3	3	158	1	0	0	0	0	1	0	0	0	11584	101	4	4	1336	4	PCDHB12	5	140589813	Missense_Mutation	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08	69098630	140589813	40325447	5	2707											
FNDC1	84624	broad.mit.edu	37	6	159647583	159647583	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr6:159647583C>T	ENST00000297267.9	+	9	1351	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	384	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTTGGGATGCGCTACCAGAG	0.473													3	10					0	0	1	0	0	T	159647583	C	T	159647583	3	4	158	1	0	0	0	0	1	0	0	0	6001	768	27	1	1185	1	FNDC1	6	159647583	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		159647583	11467484	6	2708											
PARD3	56288	broad.mit.edu	37	10	34408631	34408631	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:34408631G>A	ENST00000374789.3	-	24	3912	c.3587C>T	c.(3586-3588)tCg>tTg	p.S1196L	PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACGGACACCGAGTGTCGCCC	0.612													10	22					0	0	1	0	0	A	34408631	G	A	34408631	3	1	158	1	0	0	0	0	1	0	0	0	11490	1059	37	2	491	2	PARD3	10	34408631	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08		34408631	101126116	7	2709											
RHOBTB1	9886	broad.mit.edu	37	10	62648781	62648781	+	Silent	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:62648781T>C	ENST00000337910.5	-	6	982	c.645A>G	c.(643-645)caA>caG	p.Q215Q	RHOBTB1_ENST00000357917.4_Silent_p.Q215Q	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTTCCAGAATTGCAGGTGCC	0.478													14	153					0	0	1	0	0	C	62648781	T	C	62648781	2	2	158	1	0	0	0	0	0	0	0	1	13383	1490	52	4		4	RHOBTB1	10	62648781	Silent	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08	28240150	62648781	72885966	8	2710											
RBP4	5950	broad.mit.edu	37	10	95360770	95360770	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:95360770C>T	ENST00000371467.1	-	2	335	c.16G>A	c.(16-18)Gcg>Acg	p.A6T	RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.A6T|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	6					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGCAAGAGCGCCCACACCCAC	0.697													17	34					0	0	1	0	0	T	95360770	C	T	95360770	3	4	158	1	0	0	0	0	1	0	0	0	13210	739	26	3	609	3	RBP4	10	95360770	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08	32711989	95360770	40173977	9	2711											
CRTAC1	55118	broad.mit.edu	37	10	99655137	99655137	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:99655137G>A	ENST00000370597.3	-	11	1706	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	451						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AACCGGGTGCGTGGCACCACT	0.632													20	23					0	0	1	0	0	A	99655137	G	A	99655137	3	1	158	1	0	0	0	0	1	0	0	0	3919	1145	40	1	654	1	CRTAC1	10	99655137	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08	4294367	99655137	35879610	10	2712											
MARS	4141	broad.mit.edu	37	12	57908512	57908512	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr12:57908512G>A	ENST00000262027.5	+	16	2111	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	MARS_ENST00000315473.5_Missense_Mutation_p.M425I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	659					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGCTGGGATGTTTGTGTCTA	0.507													8	243					0	0	1	0	0	A	57908512	G	A	57908512	3	1	158	1	0	0	0	0	1	0	0	0	9366	1377	48	3	2039	3	MARS	12	57908512	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08		57908512	75943383	11	2713											
CACNA1H	8912	broad.mit.edu	37	16	1261233	1261233	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:1261233T>C	ENST00000348261.5	+	22	4537	c.4289T>C	c.(4288-4290)aTt>aCt	p.I1430T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1430					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCAGGCCCATTGGGAACATC	0.602													4	72					0	0	1	0	0	C	1261233	T	C	1261233	3	2	158	1	0	0	0	0	1	0	0	0	2563	1493	52	4	4371	4	CACNA1H	16	1261233	Missense_Mutation	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08		1261233	89093520	12	2714											
TSC2	7249	broad.mit.edu	37	16	2131703	2131703	+	Missense_Mutation	SNP	C	C	T	rs137854353		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:2131703C>T	ENST00000219476.3	+	31	4348	c.3718C>T	c.(3718-3720)Cgc>Tgc	p.R1240C	TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1240			R -> W (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGGCTGAGCGCTTCAAGGA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				4	54					0	0	1	0	0	T	2131703	C	T	2131703	3	4	158	1	0	0	0	0	1	0	0	0	16667	768	27	1	3836	1	TSC2	16	2131703	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08	870470	2131703	88223050	13	2715											
FECH	2235	broad.mit.edu	37	18	55253811	55253811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55253811delG	ENST00000262093.5	-	1	193	c.42delC	c.(40-42)gcfs	p.A15fs	FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	15					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGACGCCCGCGGCGCGCAGGG	0.756													2	4	---	---	---	---						-	55253811	G	-	55253811	7	5	158	1	0	1	0	1	0	0	0	0	5841	1103	39	0	1291	0	FECH	18	55253811	Frame_Shift_Del	DEL	G	TCGA-WB-A81D-01A-11D-A35I-08		55253811	22823437	14	2716											
ATP8B1	5205	broad.mit.edu	37	18	55338716	55338716	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55338716G>C	ENST00000536015.1	-	17	2035	c.1916C>G	c.(1915-1917)aCa>aGa	p.T639R	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T639R	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	639					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGCATCCTGTGTTTCTTGCTT	0.398													23	56					0	0	1	0	0	C	55338716	G	C	55338716	3	2	158	1	0	0	0	0	1	0	0	0	1192	1377	48	5	1887	5	ATP8B1	18	55338716	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08	84905	55338716	22738532	15	2717											
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													4	132					0	0	1	0	0	T	42132119	C	T	42132119	3	4	158	1	0	0	0	0	1	0	0	0	3216	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		42132119	16996864	16	2718											
CHMP4B	128866	broad.mit.edu	37	20	32436406	32436406	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr20:32436406C>G	ENST00000217402.2	+	2	489	c.324C>G	c.(322-324)aaC>aaG	p.N108K		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	108					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGCTCAAGAACATGGGCTATG	0.602													5	31					0	0	1	0	0	G	32436406	C	G	32436406	3	3	158	1	0	0	0	0	1	0	0	0	3379	477	17	5	330	5	CHMP4B	20	32436406	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		32436406	30589114	17	2719											
RBMX	27316	broad.mit.edu	37	X	135961213	135961213	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chrX:135961213G>T	ENST00000562646.1	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	60	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383													4	103					0.150653	0.150653	1	1	0	T	135961213	G	T	135961213	3	4	158	1	0	0	0	0	1	0	0	0	13203	1319	46	5	1079	5	RBMX	23	135961213	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08		135961213	19309347	18	2720											
PADI3	51702	broad.mit.edu	37	1	17575683	17575683	+	Silent	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr1:17575683G>A	ENST00000375460.3	+	1	91	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	17					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCACCAGCGCGGTGTGTGTGG	0.607													3	45					0	0	1	0	0	A	17575683	G	A	17575683	2	1	159	1	0	0	0	0	0	0	0	1	11426	1103	39	2		2	PADI3	1	17575683	Silent	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		17575683	231674938	1	2721											
GAD1	2571	broad.mit.edu	37	2	171675133	171675133	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:171675133C>T	ENST00000358196.3	+	2	582	c.32C>T	c.(31-33)aCc>aTc	p.T11I	GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	11					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCGTCCGCAACCTCCTCGAAC	0.607													19	81					0	0	1	0	0	T	171675133	C	T	171675133	3	4	159	1	0	0	0	0	1	0	0	0	6214	507	18	3	34	3	GAD1	2	171675133	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		171675133	71524240	2	2722											
ITGAV	3685	broad.mit.edu	37	2	187455082	187455082	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:187455082G>A	ENST00000261023.3	+	1	291	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	6					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCCGCCGCGGCGACGGCTG	0.741													6	40					0	0	1	0	0	A	187455082	G	A	187455082	3	1	159	1	0	0	0	0	1	0	0	0	7932	1116	39	2	19	2	ITGAV	2	187455082	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	15779949	187455082	55744291	3	2723											
GIGYF2	26058	broad.mit.edu	37	2	233721515	233721515	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:233721515A>G	ENST00000373566.3	+	30	4108	c.3911A>G	c.(3910-3912)aAt>aGt	p.N1304S	GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.N1282S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1282					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTCAGTCAATGCATCATCG	0.512													13	78					0	0	1	0	0	G	233721515	A	G	233721515	3	3	159	1	0	0	0	0	1	0	0	0	6420	101	4	4	4021	4	GIGYF2	2	233721515	Missense_Mutation	SNP	A	TCGA-WB-A81E-01A-11D-A35I-08	46266433	233721515	9477858	4	2724											
ITIH3	3699	broad.mit.edu	37	3	52840340	52840340	+	Silent	SNP	T	T	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr3:52840340T>A	ENST00000449956.2	+	18	1980	c.1974T>A	c.(1972-1974)atT>atA	p.I658I	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	658					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCATCCAAATTCCGGAGAAAG	0.572													4	44					0	0	1	0	0	A	52840340	T	A	52840340	2	1	159	1	0	0	0	0	0	0	0	1	7949	1771	62	5		5	ITIH3	3	52840340	Silent	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		52840340	145182090	5	2725											
ANKHD1	54882	broad.mit.edu	37	5	139907954	139907960	+	Frame_Shift_Del	DEL	CTTTGGG	CTTTGGG	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr5:139907954_139907960delCTTTGGG	ENST00000297183.6	+	29	5547_5553	c.5423_5429delCTTTGGG	c.(5422-5430)ctfs	p.PLG1808fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCATTTCCTTTGGGTGCTCCAACT	0.406													8	141	---	---	---	---						-	139907960	CTTTGGG	-	139907954	7	5	159	1	0	1	0	1	0	0	0	0	624	681	24	0	5643	0	ANKHD1	5	139907954	Frame_Shift_Del	DEL	CTTTGGG	TCGA-WB-A81E-01A-11D-A35I-08		139907954	41007306	6	2726											
HDAC2	3066	broad.mit.edu	37	6	114270226	114270226	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr6:114270226T>C	ENST00000519065.1	-	8	1134	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C|HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C			Q92769	HDAC2_HUMAN	histone deacetylase 2	253	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ACTAGGTTGATACATCTCCAT	0.363													6	102					0	0	1	0	0	C	114270226	T	C	114270226	3	2	159	1	0	0	0	0	1	0	0	0	7048	1406	49	4	736	4	HDAC2	6	114270226	Missense_Mutation	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		114270226	56844841	7	2727											
TSGA13	114960	broad.mit.edu	37	7	130356501	130356501	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr7:130356501C>T	ENST00000456951.1	-	8	1509	c.658_splice	c.e8+1	p.A220_splice	TSGA13_ENST00000356588.3_Splice_Site_p.A220_splice			Q96PP4	TSG13_HUMAN	testis specific, 13	220										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGAGCTTACCATCTTTCCTC	0.448													8	222					0	0	1	0	0	T	130356501	C	T	130356501	5	4	159	1	0	0	0	0	0	0	1	0	16680	608	21	3	177	3	TSGA13	7	130356501	Splice_Site	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		130356501	28782162	8	2728											
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483													4	144					0	0	1	0	0	T	141766505	C	T	141766505	3	4	159	1	0	0	0	0	1	0	0	0	9591	783	27	1		1	MGAM	7	141766505	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08	11410004	141766505	17372158	9	2729											
TOX	9760	broad.mit.edu	37	8	59720342	59720342	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr8:59720342C>T	ENST00000361421.1	-	9	1765	c.1544_splice	c.e9-1	p.G515_splice		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	515						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTGCATGCCCCTGTAGGAAG	0.448											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	39					0	0	1	0	0	T	59720342	C	T	59720342	5	4	159	1	0	0	0	0	0	0	1	0	16438	637	22	3	39	3	TOX	8	59720342	Splice_Site	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		59720342	86643680	10	2730											
VCP	7415	broad.mit.edu	37	9	35057381	35057381	+	Silent	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr9:35057381G>A	ENST00000358901.6	-	16	3202	c.2307C>T	c.(2305-2307)ggC>ggT	p.G769G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	769					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCTGAAGCTGCCAAAGCCCC	0.507													5	384					0	0	1	0	0	A	35057381	G	A	35057381	2	1	159	1	0	0	0	0	0	0	0	1	17200	1306	46	3		3	VCP	9	35057381	Silent	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		35057381	106156050	11	2731											
DMBT1	1755	broad.mit.edu	37	10	124392750	124392750	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:124392750C>A	ENST00000338354.3	+	49	6160	c.6054C>A	c.(6052-6054)gaC>gaA	p.D2018E	DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2018E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2018	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATCAGGGGACTTTTCCAGCC	0.507													39	54					3.61848e-18	3.71899e-18	1	1	0	A	124392750	C	A	124392750	3	1	159	1	0	0	0	0	1	0	0	0	4605	564	20	5	6248	5	DMBT1	10	124392750	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		124392750	11141997	12	2732											
C10orf90	118611	broad.mit.edu	37	10	128118419	128118419	+	Splice_Site	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:128118419T>C	ENST00000284694.7	-	7	2018	c.1897_splice	c.e7-1	p.D633_splice	C10orf90_ENST00000480379.1_Splice_Site_p.D37_splice|C10orf90_ENST00000544758.1_Splice_Site_p.D730_splice|C10orf90_ENST00000454341.1_Splice_Site_p.D536_splice|C10orf90_ENST00000356858.3_Splice_Site_p.D586_splice	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	633										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GAACAAGTTATCTGGAAAAAA	0.358													10	71					0	0	1	0	0	C	128118419	T	C	128118419	5	2	159	1	0	0	0	0	0	0	1	0	1627	1449	50	4	213	4	C10orf90	10	128118419	Splice_Site	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08	3725669	128118419	7416328	13	2733											
RPS6KA4	8986	broad.mit.edu	37	11	64136019	64136019	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr11:64136019G>A	ENST00000528057.1	+	11	1347	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R427H|RPS6KA4_ENST00000294261.4_Intron	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	427	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGTGTCGCCGCTGCCGCCAG	0.701													5	1					0	0	1	0	0	A	64136019	G	A	64136019	3	1	159	1	0	0	0	0	1	0	0	0	13705	1087	38	1	1322	1	RPS6KA4	11	64136019	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		64136019	70870497	14	2734											
PFKM	5213	broad.mit.edu	37	12	48529135	48529135	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr12:48529135G>A	ENST00000340802.6	+	12	1342	c.1118G>A	c.(1117-1119)gGt>gAt	p.G373D	PFKM_ENST00000395233.2_Intron|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D|PFKM_ENST00000312352.7_Missense_Mutation_p.G302D|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	302					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTGCAGAGGGGTGGGACGCCA	0.572													10	50					0	0	1	0	0	A	48529135	G	A	48529135	3	1	159	1	0	0	0	0	1	0	0	0	11813	1261	44	3	1160	3	PFKM	12	48529135	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		48529135	85322760	15	2735											
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													10	176	---	---	---	---						T	60582734	-	T	60582733	7	5	159	1	0	1	1	0	0	0	0	0	4548	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-WB-A81E-01A-11D-A35I-08		60582733	54587145	16	2736											
CGNL1	84952	broad.mit.edu	37	15	57730597	57730597	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr15:57730597G>A	ENST00000281282.5	+	2	478	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	134	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATCGCAAAGACGGGTCTGT	0.473													4	63					0	0	1	0	0	A	57730597	G	A	57730597	3	1	159	1	0	0	0	0	1	0	0	0	3326	942	33	3	402	3	CGNL1	15	57730597	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		57730597	44800795	17	2737											
DNASE1	1773	broad.mit.edu	37	16	3706108	3706108	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr16:3706108C>G	ENST00000246949.5	+	4	3451	c.242C>G	c.(241-243)gCa>gGa	p.A81G	DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	TCCAGGGATGCACCAGACACC	0.597													7	54					0	0	1	0	0	G	3706108	C	G	3706108	3	3	159	1	0	0	0	0	1	0	0	0	4687	710	25	5	252	5	DNASE1	16	3706108	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		3706108	86648645	18	2738											
SUPT6H	6830	broad.mit.edu	37	17	27023888	27023888	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr17:27023888C>T	ENST00000314616.6	+	30	4280	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1333	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCGCACACCCATCCTTCCA	0.498													16	32					0	0	1	0	0	T	27023888	C	T	27023888	3	4	159	1	0	0	0	0	1	0	0	0	15456	623	22	3	4111	3	SUPT6H	17	27023888	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		27023888	54171322	19	2739											
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:804908C>T	ENST00000356948.6	+	7	1109	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662													4	162					0	0	1	0	0	T	804908	C	T	804908	3	4	159	1	0	0	0	0	1	0	0	0	12774	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		804908	58324075	20	2740											
EIF3K	27335	broad.mit.edu	37	19	39127527	39127527	+	Splice_Site	SNP	A	A	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:39127527A>C	ENST00000248342.4	+	8	797		c.e8-1		EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site	NM_013234.2	NP_037366.1	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTCCCCACAGGTGTGTCCA	0.532													6	108					0	0	1	0	0	C	39127527	A	C	39127527	5	2	159	1	0	0	0	0	0	0	1	0	5049	202	7	5	654	5	EIF3K	19	39127527	Splice_Site	SNP	A	TCGA-WB-A81E-01A-11D-A35I-08	38322619	39127527	20001456	21	2741											
LGALS14	56891	broad.mit.edu	37	19	40199856	40199856	+	Missense_Mutation	SNP	G	G	C	rs111361406	byFrequency	TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:40199856G>C	ENST00000392052.3	+	4	546	c.323G>C	c.(322-324)cGc>cCc	p.R108P	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin.					nucleus	sugar binding	p.R108L(1)|p.R137L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AATGGCCAACGCATTTACAAC	0.468													9	101					0	0	1	0	0	C	40199856	G	C	40199856	3	2	159	1	0	0	0	0	1	0	0	0	8780	1087	38	5	443	5	LGALS14	19	40199856	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	1072329	40199856	18929127	22	2742											
GGT7	2686	broad.mit.edu	37	20	33449307	33449307	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:33449307G>A	ENST00000336431.5	-	4	660	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	206					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCGGACTCCCGGAAATCAATT	0.557													7	40					0	0	1	0	0	A	33449307	G	A	33449307	3	1	159	1	0	0	0	0	1	0	0	0	6406	1115	39	2	1420	2	GGT7	20	33449307	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		33449307	29576213	23	2743											
CSTF1	1477	broad.mit.edu	37	20	54972305	54972305	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:54972305G>T	ENST00000217109.4	+	3	564	c.212G>T	c.(211-213)cGt>cTt	p.R71L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	71					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GCAATTGGTCGTTCAGATACT	0.428													12	177					1.08611e-07	1.08611e-07	1	1	0	T	54972305	G	T	54972305	3	4	159	1	0	0	0	0	1	0	0	0	4008	1145	40	5	218	5	CSTF1	20	54972305	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	21522998	54972305	8053215	24	2744											
MORC3	23515	broad.mit.edu	37	21	37716913	37716913	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:37716913C>G	ENST00000400485.1	+	7	869	c.793C>G	c.(793-795)Cag>Gag	p.Q265E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	265					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCCAAGAATGCAGATCATCCT	0.373													7	60					0	0	1	0	0	G	37716913	C	G	37716913	3	3	159	1	0	0	0	0	1	0	0	0	9752	711	25	5	819	5	MORC3	21	37716913	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		37716913	10412982	25	2745											
LSS	4047	broad.mit.edu	37	21	47648646	47648646	+	Translation_Start_Site	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:47648646G>A	ENST00000457828.2	-	0	92				LSS_ENST00000522411.1_Splice_Site_p.T5_splice|LSS_ENST00000356396.4_Splice_Site_p.T5_splice|LSS_ENST00000397728.3_Splice_Site_p.T5_splice|LSS_ENST00000464357.1_5'UTR	NM_001145437.1	NP_001138909.1	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)						cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGGACTCACGTGCCCTCCGT	0.746													4	12					0	0	1	0	0	A	47648646	G	A	47648646	1	1	159	1	0	0	0	0	0	0	0	0	9110	1159	40	1		1	LSS	21	47648646	Translation_Start_Site	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	9931733	47648646	481249	26	2746											
CDKL5	6792	broad.mit.edu	37	X	18616728	18616728	+	Silent	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chrX:18616728T>C	ENST00000379989.3	+	12	1257	c.972T>C	c.(970-972)tcT>tcC	p.S324S	CDKL5_ENST00000379996.3_Silent_p.S324S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	324					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCACATTGTCTAATAGGTAAA	0.398													10	84					0	0	1	0	0	C	18616728	T	C	18616728	2	2	159	1	0	0	0	0	0	0	0	1	3179	1509	53	4		4	CDKL5	23	18616728	Silent	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		18616728	136653832	27	2747											
GBP1	2633	broad.mit.edu	37	1	89528883	89528883	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr1:89528883C>T	ENST00000370473.4	-	2	254	c.35G>A	c.(34-36)tGc>tAc	p.C12Y		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	12					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCAATGAGGCACATTGGGCC	0.483													43	31					0	0	1	0	0	T	89528883	C	T	89528883	3	4	160	1	0	0	0	0	1	0	0	0	6313	710	25	3	1783	3	GBP1	1	89528883	Missense_Mutation	SNP	C	TCGA-WB-A81F-01A-11D-A35I-08		89528883	159721738	1	2748											
UGT2B11	10720	broad.mit.edu	37	4	70079903	70079903	+	Missense_Mutation	SNP	T	T	C	rs147658117		TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr4:70079903T>C	ENST00000446444.1	-	1	546	c.538A>G	c.(538-540)Att>Gtt	p.I180V	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	180					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCCTTTCAATTGTGTAGCCA	0.428													4	90					0	0	1	0	0	C	70079903	T	C	70079903	3	2	160	1	0	0	0	0	1	0	0	0	17017	1493	52	4	1075	4	UGT2B11	4	70079903	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		70079903	121074373	2	2749											
KIF13B	23303	broad.mit.edu	37	8	28997654	28997654	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr8:28997654T>C	ENST00000524189.1	-	21	2577	c.2539A>G	c.(2539-2541)Agg>Ggg	p.R847G	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	847					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTGCGATCCTCTCCCCAACA	0.542													6	10					0	0	1	0	0	C	28997654	T	C	28997654	3	2	160	1	0	0	0	0	1	0	0	0	8317	1550	54	4	3021	4	KIF13B	8	28997654	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		28997654	117366368	3	2750											
EBF3	253738	broad.mit.edu	37	10	131639196	131639196	+	Silent	SNP	A	A	G			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr10:131639196A>G	ENST00000368648.3	-	14	1518	c.1446T>C	c.(1444-1446)aaT>aaC	p.N482N	EBF3_ENST00000355311.5_Silent_p.N491N	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	491	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTCCATATCCATTCATGCTAG	0.562													13	79					0	0	1	0	0	G	131639196	A	G	131639196	2	3	160	1	0	0	0	0	0	0	0	1	4908	214	8	4		4	EBF3	10	131639196	Silent	SNP	A	TCGA-WB-A81F-01A-11D-A35I-08		131639196	3895551	4	2751											
CEP164	22897	broad.mit.edu	37	11	117280555	117280555	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr11:117280555T>G	ENST00000278935.3	+	30	4117	c.3970T>G	c.(3970-3972)Tta>Gta	p.L1324V	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1324					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTTCTCAGCCTTATCATCTGC	0.657													12	100					0	0	1	0	0	G	117280555	T	G	117280555	3	3	160	1	0	0	0	0	1	0	0	0	3271	1606	56	5	4080	5	CEP164	11	117280555	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		117280555	17725961	5	2752											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	42					0	0	1	0	0	A	150156360	G	A	150156360	2	1	160	1	0	0	0	0	0	0	0	1	7268	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-WB-A81F-01A-11D-A35I-08		150156360	5114200	6	2753											
C1orf86	199990	broad.mit.edu	37	1	2125338	2125338	+	Silent	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:2125338G>A	ENST00000378545.3	-	4	518	c.519C>T	c.(517-519)tgC>tgT	p.C173C	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378546.4_Silent_p.C70C			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	70										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTCCGGGCCGCACCTGGGCT	0.652													3	37					0	0	1	0	0	A	2125338	G	A	2125338	2	1	161	1	0	0	0	0	0	0	0	1	2077	1088	38	1		1	C1orf86	1	2125338	Silent	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		2125338	247125283	1	2754											
ELTD1	64123	broad.mit.edu	37	1	79401981	79401981	+	Splice_Site	SNP	A	A	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:79401981A>T	ENST00000370742.3	-	7	939	c.877_splice	c.e7+1	p.N292_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	292					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGTCCTACCATTTGAATCAT	0.269													8	63					0	0	1	0	0	T	79401981	A	T	79401981	5	4	161	1	0	0	0	0	0	0	1	0	5112	231	8	5	1232	5	ELTD1	1	79401981	Splice_Site	SNP	A	TCGA-WB-A81G-01A-11D-A35I-08	77276643	79401981	169848640	2	2755											
NFE2L2	4780	broad.mit.edu	37	2	178095647	178095647	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:178095647G>A	ENST00000397062.3	-	5	2238	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	562					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAACTTCGAGATATAAGGTG	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			19	90					0	0	1	0	0	A	178095647	G	A	178095647	3	1	161	1	0	0	0	0	1	0	0	0	10415	942	33	3	137	3	NFE2L2	2	178095647	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		178095647	65103726	3	2756											
ANKRD44	91526	broad.mit.edu	37	2	197987396	197987396	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:197987396T>C	ENST00000328737.2	-	7	672	c.596A>G	c.(595-597)cAt>cGt	p.H199R	ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	224							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGGAGATGCTTGACAAC	0.438													6	62					0	0	1	0	0	C	197987396	T	C	197987396	3	2	161	1	0	0	0	0	1	0	0	0	666	1464	51	4	2243	4	ANKRD44	2	197987396	Missense_Mutation	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08	19891749	197987396	45211977	4	2757											
UGT8	7368	broad.mit.edu	37	4	115544471	115544471	+	Silent	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr4:115544471T>C	ENST00000310836.6	+	2	957	c.435T>C	c.(433-435)ttT>ttC	p.F145F	UGT8_ENST00000394511.3_Silent_p.F145F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	145					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGTGTGGATTTGTGATAGCTC	0.463													4	129					0	0	1	0	0	C	115544471	T	C	115544471	2	2	161	1	0	0	0	0	0	0	0	1	17025	1809	63	4		4	UGT8	4	115544471	Silent	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08		115544471	75609805	5	2758											
AHRR	57491	broad.mit.edu	37	5	434411	434411	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:434411C>T	ENST00000316418.5	+	12	1666	c.1622C>T	c.(1621-1623)cCg>cTg	p.P541L	AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L|AHRR_ENST00000505113.1_Missense_Mutation_p.P523L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGATGCCTCCGGGGGACCTG	0.617													5	15					0	0	1	0	0	T	434411	C	T	434411	3	4	161	1	0	0	0	0	1	0	0	0	414	652	23	2	1668	2	AHRR	5	434411	Missense_Mutation	SNP	C	TCGA-WB-A81G-01A-11D-A35I-08		434411	180480849	6	2759											
OSMR	9180	broad.mit.edu	37	5	38904125	38904128	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:38904125_38904128delAAGT	ENST00000274276.3	+	8	1535_1536	c.1134_splice	c.e8+1	p.378_splice		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	378	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAATGATGCAAGTAAGAACCCTG	0.343													11	25	---	---	---	---						-	38904128	AAGT	-	38904125	8	5	161	1	0	1	0	1	0	0	1	0	11339	144	5	0	1197	0	OSMR	5	38904125	Splice_Site	DEL	AAGT	TCGA-WB-A81G-01A-11D-A35I-08	38469714	38904125	142011135	7	2760											
DCN	1634	broad.mit.edu	37	12	91550888	91550888	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr12:91550888G>A	ENST00000052754.5	-	5	1117	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000228329.5_Missense_Mutation_p.R97C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	206					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCAGCAATGCGGATGTAGGAG	0.378													4	77					0	0	1	0	0	A	91550888	G	A	91550888	3	1	161	1	0	0	0	0	1	0	0	0	4320	1116	39	2	479	2	DCN	12	91550888	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		91550888	42301007	8	2761											
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488													3	4	---	---	---	---						-	3594163	A	-	3594163	6	5	161	0	1	1	0	1	0	0	0	0	10515	261	9	0		0	NLRC3	16	3594163	RNA	DEL	A	TCGA-WB-A81G-01A-11D-A35I-08		3594163	86760590	9	2762											
SCNN1B	0	broad.mit.edu	37	16	23387059	23387059	+	Splice_Site	SNP	G	G	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr16:23387059G>T	ENST00000343070.2	+	8	1329	c.1152_splice	c.e8-1	p.A385_splice	SCNN1B_ENST00000568923.1_Splice_Site_p.A358_splice|SCNN1B_ENST00000307331.5_Splice_Site_p.A430_splice|SCNN1B_ENST00000568085.1_Splice_Site_p.A349_splice	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	385					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTCCCCAGGCCTGTCTTCG	0.557													4	68					0.0215528	0.0215528	1	1	0	T	23387059	G	T	23387059	5	4	161	1	0	0	0	0	0	0	1	0	13982	1217	42	5	1179	5	SCNN1B	16	23387059	Splice_Site	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08	19792896	23387059	66967694	10	2763											
LAMA3	3909	broad.mit.edu	37	18	21523936	21523936	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr18:21523936G>A	ENST00000313654.9	+	69	9451		c.e69+1		LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGCACACGGTAAGAGCTGG	0.478													3	20					0	0	1	0	0	A	21523936	G	A	21523936	5	1	161	1	0	0	0	0	0	0	1	0	8646	1275	44	3	9660	3	LAMA3	18	21523936	Splice_Site	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		21523936	56553312	11	2764											
NDUFS7	374291	broad.mit.edu	37	19	1395440	1395440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:1395440delA	ENST00000233627.9	+	8	891	c.595delA	c.(595-597)ggfs	p.R199fs	NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	199					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GCAGCTGCAGAGGAAGATCAA	0.706													2	4	---	---	---	---						-	1395440	A	-	1395440	7	5	161	1	0	1	0	1	0	0	0	0	10344	295	11	0	625	0	NDUFS7	19	1395440	Frame_Shift_Del	DEL	A	TCGA-WB-A81G-01A-11D-A35I-08		1395440	57733543	12	2765											
SHKBP1	92799	broad.mit.edu	37	19	41094581	41094581	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:41094581G>A	ENST00000291842.5	+	14	1437	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	463						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCTTCCGCGGCATGATTTCC	0.607													4	83					0	0	1	0	0	A	41094581	G	A	41094581	3	1	161	1	0	0	0	0	1	0	0	0	14339	1203	42	3	1442	3	SHKBP1	19	41094581	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08	39699141	41094581	18034402	13	2766											
ZNF417	147687	broad.mit.edu	37	19	58420525	58420525	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:58420525T>C	ENST00000312026.5	-	3	1285	c.1121A>G	c.(1120-1122)cAc>cGc	p.H374R	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTCTCCAGTGTGAACACGCTG	0.463													30	79					0	0	1	0	0	C	58420525	T	C	58420525	3	2	161	1	0	0	0	0	1	0	0	0	17951	1696	59	4	610	4	ZNF417	19	58420525	Missense_Mutation	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08	17325944	58420525	708458	14	2767											
ZNF185	7739	broad.mit.edu	37	X	152085712	152085712	+	Splice_Site	SNP	C	C	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chrX:152085712C>A	ENST00000535861.1	+	4	310	c.263_splice	c.e4+1	p.R88_splice	ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Splice_Site_p.R88_splice|ZNF185_ENST00000539731.1_Splice_Site_p.R88_splice|ZNF185_ENST00000449285.2_Splice_Site_p.R88_splice|ZNF185_ENST00000318504.7_Splice_Site_p.R88_splice	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	88						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTACATCATCCGGTAAGTGAC	0.622													3	29					0.004672	0.00511695	1	1	0	A	152085712	C	A	152085712	5	1	161	1	0	0	0	0	0	0	1	0	17810	666	23	5	276	5	ZNF185	23	152085712	Splice_Site	SNP	C	TCGA-WB-A81G-01A-11D-A35I-08		152085712	3184848	15	2768											
RPS6KC1	26750	broad.mit.edu	37	1	213415627	213415627	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr1:213415627A>T	ENST00000366960.3	+	11	2958	c.2808A>T	c.(2806-2808)ttA>ttT	p.L936F	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	936	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAACATCTTATTGAATGATA	0.398													14	119					0	0	1	0	0	T	213415627	A	T	213415627	3	4	162	1	0	0	0	0	1	0	0	0	13710	446	16	5	2850	5	RPS6KC1	1	213415627	Missense_Mutation	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08		213415627	35834994	1	2769											
RTN4	57142	broad.mit.edu	37	2	55252907	55252910	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:55252907_55252910delAAAT	ENST00000337526.6	-	3	2568_2571	c.2325_2328delATTT	c.(2323-2328)tcfs	p.SF775fs	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	775					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCATTGACTCAAATGAAGTCTCAG	0.363													24	89	---	---	---	---						-	55252910	AAAT	-	55252907	7	5	162	1	0	1	0	1	0	0	0	0	13780	127	5	0	1316	0	RTN4	2	55252907	Frame_Shift_Del	DEL	AAAT	TCGA-WB-A81H-01A-11D-A35I-08		55252907	187946466	2	2770											
LANCL1	10314	broad.mit.edu	37	2	211302429	211302429	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:211302429G>A	ENST00000443314.1	-	6	1200	c.858C>T	c.(856-858)ctC>ctT	p.L286L	LANCL1_ENST00000441020.3_Silent_p.L286L|LANCL1_ENST00000233714.4_Silent_p.L286L|LANCL1_ENST00000431941.2_Silent_p.L286L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	286						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		AGGCCTGGATGAGCATGTAGA	0.358													5	37					0	0	1	0	0	A	211302429	G	A	211302429	2	1	162	1	0	0	0	0	0	0	0	1	8659	1277	45	3		3	LANCL1	2	211302429	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	156049522	211302429	31896944	3	2771											
PROL1	58503	broad.mit.edu	37	4	71275374	71275374	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:71275374G>A	ENST00000399575.2	+	3	503	c.329G>A	c.(328-330)aGa>aAa	p.R110K	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403													20	195					0	0	1	0	0	A	71275374	G	A	71275374	3	1	162	1	0	0	0	0	1	0	0	0	12606	942	33	3	335	3	PROL1	4	71275374	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		71275374	119878902	4	2772											
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537													4	20					0	0	1	0	0	T	140811108	C	T	140811108	2	4	162	1	0	0	0	0	0	0	0	1	9257	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08	69535734	140811108	50343168	5	2773											
TMEM144	55314	broad.mit.edu	37	4	159158779	159158779	+	Silent	SNP	A	A	G			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:159158779A>G	ENST00000296529.6	+	9	1186	c.666A>G	c.(664-666)gcA>gcG	p.A222A	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	222						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GTATATATGCAGGGGCAAGCC	0.323													10	38					0	0	1	0	0	G	159158779	A	G	159158779	2	3	162	1	0	0	0	0	0	0	0	1	16118	175	7	4		4	TMEM144	4	159158779	Silent	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08	18347671	159158779	31995497	6	2774											
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:34935028G>A	ENST00000360359.3	+	2	348	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_ENST00000535627.1_Silent_p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	70						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423													4	121					0	0	1	0	0	A	34935028	G	A	34935028	2	1	162	1	0	0	0	0	0	0	0	1	682	1190	42	3		3	ANKS1A	6	34935028	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		34935028	136180039	7	2775											
SYNE1	23345	broad.mit.edu	37	6	152472814	152472814	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:152472814G>A	ENST00000367255.5	-	135	24925	c.24324C>T	c.(24322-24324)ggC>ggT	p.G8108G	SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000356820.4_Silent_p.G2632G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000539504.1_Silent_p.G263G|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8108					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCACGCTGGCCAATAAAAT	0.428										HNSCC(10;0.0054)			7	28					0	0	1	0	0	A	152472814	G	A	152472814	2	1	162	1	0	0	0	0	0	0	0	1	15502	1190	42	3		3	SYNE1	6	152472814	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	117537786	152472814	18642253	8	2776											
NFE2L3	9603	broad.mit.edu	37	7	26224911	26224914	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:26224911_26224914delAGAT	ENST00000056233.3	+	4	1852_1855	c.1593_1596delAGAT	c.(1591-1596)acfs	p.TD531fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	531					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGAAGACACAGATAGAAACTTGA	0.431													31	85	---	---	---	---						-	26224914	AGAT	-	26224911	7	5	162	1	0	1	0	1	0	0	0	0	10416	175	7	0	1607	0	NFE2L3	7	26224911	Frame_Shift_Del	DEL	AGAT	TCGA-WB-A81H-01A-11D-A35I-08		26224911	132913752	9	2777											
POM121C	100101267	broad.mit.edu	37	7	75066839	75066839	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:75066839C>T	ENST00000453279.2	-	7	1298	c.434G>A	c.(433-435)cGc>cAc	p.R145H	POM121C_ENST00000257665.5_Missense_Mutation_p.R387H	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	387	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AATGGCATTGCGGCTGGAGCT	0.502													4	174					0	0	1	0	0	T	75066839	C	T	75066839	3	4	162	1	0	0	0	0	1	0	0	0	12288	768	27	1	2565	1	POM121C	7	75066839	Missense_Mutation	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08	48841928	75066839	84071824	10	2778											
ZNF438	220929	broad.mit.edu	37	10	31137681	31137681	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr10:31137681G>A	ENST00000538351.1	-	7	2260	c.1506C>T	c.(1504-1506)agC>agT	p.S502S	ZNF438_ENST00000436087.2_Silent_p.S551S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000413025.1_Silent_p.S551S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000361310.3_Silent_p.S551S|ZNF438_ENST00000442986.1_Silent_p.S551S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCATGTGTGTGCTCAGGCTGC	0.473													5	214					0	0	1	0	0	A	31137681	G	A	31137681	2	1	162	1	0	0	0	0	0	0	0	1	17967	1310	46	3		3	ZNF438	10	31137681	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		31137681	104397066	11	2779											
MUC5B	727897	broad.mit.edu	37	11	1269120	1269120	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:1269120C>A	ENST00000447027.1	+	31	11077	c.11019C>A	c.(11017-11019)caC>caA	p.H3673Q	MUC5B_ENST00000529681.1_Missense_Mutation_p.H3670Q|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3670	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTACGGCCACTGCCCCAGCA	0.597													12	116					7.93312e-07	8.16645e-07	1	1	0	A	1269120	C	A	1269120	3	1	162	1	0	0	0	0	1	0	0	0	10027	564	20	5	11141	5	MUC5B	11	1269120	Missense_Mutation	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08		1269120	133737396	12	2780											
OR8H3	390152	broad.mit.edu	37	11	55890365	55890365	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:55890365A>G	ENST00000313472.3	+	1	517	c.517A>G	c.(517-519)Ata>Gta	p.I173V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGACTCAAACATAATTCATCA	0.438													4	228					0	0	1	0	0	G	55890365	A	G	55890365	3	3	162	1	0	0	0	0	1	0	0	0	11286	217	8	4	519	4	OR8H3	11	55890365	Missense_Mutation	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08	54621245	55890365	79116151	13	2781											
DIXDC1	85458	broad.mit.edu	37	11	111853098	111853098	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:111853098G>A	ENST00000440460.2	+	7	1101	c.804G>A	c.(802-804)cgG>cgA	p.R268R	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.R57R	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	268	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GAGACTGGCGGCCAGGGAGCC	0.423											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	26					0	0	1	0	0	A	111853098	G	A	111853098	2	1	162	1	0	0	0	0	0	0	0	1	4569	1190	42	3		3	DIXDC1	11	111853098	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	55962733	111853098	23153418	14	2782											
NAV3	89795	broad.mit.edu	37	12	78443848	78443848	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr12:78443848T>C	ENST00000397909.2	+	10	2272	c.2099T>C	c.(2098-2100)aTg>aCg	p.M700T	NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	700						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGAGACTATGTCCAGTCTT	0.328										HNSCC(70;0.22)			5	39					0	0	1	0	0	C	78443848	T	C	78443848	3	2	162	1	0	0	0	0	1	0	0	0	10233	1464	51	4	2137	4	NAV3	12	78443848	Missense_Mutation	SNP	T	TCGA-WB-A81H-01A-11D-A35I-08		78443848	55408047	15	2783											
HS3ST3B1	9953	broad.mit.edu	37	17	14204904	14204904	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:14204904G>A	ENST00000360954.2	+	1	505	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	23					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCAgccgccgccgcccccgc	0.726													3	4					0	0	1	0	0	A	14204904	G	A	14204904	2	1	162	1	0	0	0	0	0	0	0	1	7407	1074	38	1		1	HS3ST3B1	17	14204904	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		14204904	66990306	16	2784											
DLX4	0	broad.mit.edu	37	17	48046950	48046950	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:48046950G>A	ENST00000240306.3	+	1	413	c.118G>A	c.(118-120)Gca>Aca	p.A40T	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	40				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCCTACAACCGCAGCCTCCCC	0.662													4	135					0	0	1	0	0	A	48046950	G	A	48046950	3	1	162	1	0	0	0	0	1	0	0	0	4601	1087	38	1	120	1	DLX4	17	48046950	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	33842046	48046950	33148260	17	2785											
GPX4	2879	broad.mit.edu	37	19	1105248	1105248	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:1105248G>A	ENST00000354171.8	+	2	255	c.148G>A	c.(148-150)Gac>Aac	p.D50N	GPX4_ENST00000589115.1_Missense_Mutation_p.D50N	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	50					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	CAAGGACATCGACGGGCACAT	0.682													14	83					0	0	1	0	0	A	1105248	G	A	1105248	3	1	162	1	0	0	0	0	1	0	0	0	6783	1058	37	2	353	2	GPX4	19	1105248	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		1105248	58023735	18	2786											
CYP4F2	8529	broad.mit.edu	37	19	16000403	16000403	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:16000403T>C	ENST00000221700.5	-	7	843	c.748A>G	c.(748-750)Acc>Gcc	p.T250A	CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A|CYP4F2_ENST00000592328.1_Missense_Mutation_p.T250A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	250					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCAGGGGTGAGATAATAC	0.557													33	82					0	0	1	0	0	C	16000403	T	C	16000403	3	2	162	1	0	0	0	0	1	0	0	0	4211	1696	59	4	842	4	CYP4F2	19	16000403	Missense_Mutation	SNP	T	TCGA-WB-A81H-01A-11D-A35I-08	14895155	16000403	43128580	19	2787											
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572													6	438					0	0	1	0	0	A	62597735	G	A	62597735	3	1	162	1	0	0	0	0	1	0	0	0	18014	1203	42	3	1937	3	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		62597735	427785	20	2788											
SLFNL1	200172	broad.mit.edu	37	1	41483806	41483808	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr1:41483806_41483808delTCC	ENST00000359345.1	-	2	3032_3034	c.456_458delGGA	c.(454-459)gac>ga	p.ED152del	SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	152							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626													2	4	---	---	---	---						-	41483808	TCC	-	41483806	7	5	163	1	0	1	0	1	0	0	0	0	14792	1667	58	0	777	0	SLFNL1	1	41483806	In_Frame_Del	DEL	TCC	TCGA-WB-A81I-01A-11D-A35I-08		41483806	207766815	1	2789											
AAK1	22848	broad.mit.edu	37	2	69741805	69741807	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr2:69741805_69741807delTGT	ENST00000409085.4	-	13	1948_1950	c.1572_1574delACA	c.(1570-1575)cag>ca	p.QQ524del	AAK1_ENST00000406297.3_In_Frame_Del_p.QQ524del|AAK1_ENST00000409068.1_In_Frame_Del_p.QQ524del	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	524	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CATTAGCTGCTGTTGAGAGCCTC	0.502													12	8	---	---	---	---						-	69741807	TGT	-	69741805	7	5	163	1	0	1	0	1	0	0	0	0	16	1580	55	0	1351	0	AAK1	2	69741805	In_Frame_Del	DEL	TGT	TCGA-WB-A81I-01A-11D-A35I-08		69741805	173457568	2	2790											
CRIPAK	285464	broad.mit.edu	37	4	1389240	1389240	+	Missense_Mutation	SNP	G	G	A	rs71299249		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr4:1389240G>A	ENST00000324803.4	+	1	3901	c.941G>A	c.(940-942)cGt>cAt	p.R314H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	314					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCTCACGTGCCCATATG	0.662													12	182					0	0	1	0	0	A	1389240	G	A	1389240	3	1	163	1	0	0	0	0	1	0	0	0	3900	1145	40	1	943	1	CRIPAK	4	1389240	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		1389240	189765036	3	2791											
ZNF608	57507	broad.mit.edu	37	5	123982608	123982608	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr5:123982608G>A	ENST00000306315.5	-	4	3904	c.3469C>T	c.(3469-3471)Ccc>Tcc	p.P1157S	ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1157						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAGTAGAGGGAGCTTTTGAG	0.463													22	69					0	0	1	0	0	A	123982608	G	A	123982608	3	1	163	1	0	0	0	0	1	0	0	0	18091	1174	41	3	1093	3	ZNF608	5	123982608	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		123982608	56932652	4	2792											
KIF13B	23303	broad.mit.edu	37	8	28928038	28928038	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:28928038T>G	ENST00000524189.1	-	40	5502	c.5464A>C	c.(5464-5466)Aaa>Caa	p.K1822Q	KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1822					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCCCAGGATTTCCGGTTCTCA	0.682													3	14					0	0	1	0	0	G	28928038	T	G	28928038	3	3	163	1	0	0	0	0	1	0	0	0	8317	1792	62	5	20	5	KIF13B	8	28928038	Missense_Mutation	SNP	T	TCGA-WB-A81I-01A-11D-A35I-08		28928038	117435984	5	2793											
PKHD1L1	93035	broad.mit.edu	37	8	110457177	110457177	+	Silent	SNP	C	C	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:110457177C>T	ENST00000378402.5	+	38	5183	c.5079C>T	c.(5077-5079)gtC>gtT	p.V1693V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1693	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTAAAAGTCCTTATGGGTC	0.443										HNSCC(38;0.096)			47	60					0	0	1	0	0	T	110457177	C	T	110457177	2	4	163	1	0	0	0	0	0	0	0	1	12020	842	30	3		3	PKHD1L1	8	110457177	Silent	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08	81529139	110457177	35906845	6	2794											
FAM111B	374393	broad.mit.edu	37	11	58877137	58877137	+	Silent	SNP	C	C	T	rs138558402		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:58877137C>T	ENST00000343597.3	+	3	230	c.39C>T	c.(37-39)agC>agT	p.S13S	FAM111B_ENST00000529618.1_Intron|FAM111B_ENST00000411426.1_Intron	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	13							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTCATTTAGCGCTATGGAAG	0.368													3	27					0	0	1	0	0	T	58877137	C	T	58877137	2	4	163	1	0	0	0	0	0	0	0	1	5431	767	27	1		1	FAM111B	11	58877137	Silent	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08		58877137	76129379	7	2795											
DYNC2H1	79659	broad.mit.edu	37	11	103027115	103027115	+	Splice_Site	SNP	A	A	G			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:103027115A>G	ENST00000375735.2	+	26	3888		c.e26-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						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)		TGTGTTAAATAGGATTTAAAT	0.279													6	10					0	0	1	0	0	G	103027115	A	G	103027115	5	3	163	1	0	0	0	0	0	0	1	0	4872	434	15	4	3845	4	DYNC2H1	11	103027115	Splice_Site	SNP	A	TCGA-WB-A81I-01A-11D-A35I-08	44149978	103027115	31979401	8	2796											
CNOT1	23019	broad.mit.edu	37	16	58589235	58589236	+	Frame_Shift_Del	DEL	AT	AT	-	rs145768046		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr16:58589235_58589236delAT	ENST00000317147.5	-	21	3142_3143	c.2810_2811delAT	c.(2809-2811)tfs	p.Y937fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	937					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTCAAGAACATATCGTAGAGC	0.401													56	79	---	---	---	---						-	58589236	AT	-	58589235	7	5	163	1	0	1	0	1	0	0	0	0	3640	224	8	0	4657	0	CNOT1	16	58589235	Frame_Shift_Del	DEL	AT	TCGA-WB-A81I-01A-11D-A35I-08		58589235	31765518	9	2797											
MYH3	4621	broad.mit.edu	37	17	10537355	10537355	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr17:10537355G>C	ENST00000583535.1	-	32	4588	c.4501C>G	c.(4501-4503)Cgg>Ggg	p.R1501G	MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1501					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTATTTTCCCGTTTCACAGTT	0.493													10	89					0	0	1	0	0	C	10537355	G	C	10537355	3	2	163	1	0	0	0	0	1	0	0	0	10084	1144	40	5	1361	5	MYH3	17	10537355	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		10537355	70657855	10	2798											
PLIN5	440503	broad.mit.edu	37	19	4525016	4525016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:4525016delC	ENST00000381848.3	-	7	873	c.793delG	c.(793-795)aafs	p.E265fs		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	265						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TGGCCCCATTCCCCCCACAGC	0.682													2	4	---	---	---	---						-	4525016	C	-	4525016	7	5	163	1	0	1	0	1	0	0	0	0	12141	864	30	0	606	0	PLIN5	19	4525016	Frame_Shift_Del	DEL	C	TCGA-WB-A81I-01A-11D-A35I-08		4525016	54603967	11	2799											
ZNF471	57573	broad.mit.edu	37	19	57037154	57037154	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:57037154G>A	ENST00000308031.5	+	5	1851	c.1718G>A	c.(1717-1719)tGt>tAt	p.C573Y	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CCCTATAAATGTACTGAATGT	0.423													8	39					0	0	1	0	0	A	57037154	G	A	57037154	3	1	163	1	0	0	0	0	1	0	0	0	17987	1377	48	3	1732	3	ZNF471	19	57037154	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08	52512138	57037154	2091829	12	2800											
SREBF2	6721	broad.mit.edu	37	22	42273265	42273265	+	Silent	SNP	G	G	A	rs143287516		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr22:42273265G>A	ENST00000361204.4	+	8	1585	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	473	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCCTGTGGCGCTGGGCATGG	0.512													6	67					0	0	1	0	0	A	42273265	G	A	42273265	2	1	163	1	0	0	0	0	0	0	0	1	15198	1074	38	1		1	SREBF2	22	42273265	Silent	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		42273265	9031301	13	2801											
BCOR	54880	broad.mit.edu	37	X	39933743	39933743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:39933743delT	ENST00000342274.4	-	4	1218	c.856delA	c.(856-858)gcfs	p.S286fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.S286fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	286					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGGGAGGCTTTTGTCTGCG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						2	4	---	---	---	---						-	39933743	T	-	39933743	7	5	163	1	0	1	0	1	0	0	0	0	1384	1609	56	0	4459	0	BCOR	23	39933743	Frame_Shift_Del	DEL	T	TCGA-WB-A81I-01A-11D-A35I-08		39933743	115336817	14	2802											
UBL4A	8266	broad.mit.edu	37	X	153714628	153714628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:153714628delG	ENST00000369660.4	-	2	178	c.93delC	c.(91-93)tcfs	p.S31fs	UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	31	Ubiquitin-like.				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCTTCTCGGAGACCAGCT	0.701													2	4	---	---	---	---						-	153714628	G	-	153714628	7	5	163	1	0	1	0	1	0	0	0	0	16948	1103	39	0	392	0	UBL4A	23	153714628	Frame_Shift_Del	DEL	G	TCGA-WB-A81I-01A-11D-A35I-08	113780885	153714628	1555932	15	2803											
COPA	1314	broad.mit.edu	37	1	160276973	160276973	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr1:160276973C>A	ENST00000241704.7	-	14	1511	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	COPA_ENST00000368069.3_Missense_Mutation_p.V428F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	428					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGATCTAGGACAGCAAACCGA	0.493													4	128					1	1	1	1	0	A	160276973	C	A	160276973	3	1	164	1	0	0	0	0	1	0	0	0	3750	478	17	5	2499	5	COPA	1	160276973	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		160276973	88973648	1	2804											
VWA3B	200403	broad.mit.edu	37	2	98928440	98928440	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr2:98928440C>T	ENST00000477737.1	+	27	3884	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1227										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGGACGGCTCCTCCCACGGC	0.642													5	5					0	0	1	0	0	T	98928440	C	T	98928440	3	4	164	1	0	0	0	0	1	0	0	0	17301	855	30	3	3782	3	VWA3B	2	98928440	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		98928440	144270933	2	2805											
XRN1	54464	broad.mit.edu	37	3	142054337	142054337	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr3:142054337T>C	ENST00000264951.4	-	34	4009	c.3892A>G	c.(3892-3894)Aag>Gag	p.K1298E	XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1298					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTAGGACTCTTACACTCTTCT	0.313													37	31					0	0	1	0	0	C	142054337	T	C	142054337	3	2	164	1	0	0	0	0	1	0	0	0	17519	1763	61	4	1264	4	XRN1	3	142054337	Missense_Mutation	SNP	T	TCGA-WB-A81J-01A-11D-A35I-08		142054337	55968093	3	2806											
ATP10D	57205	broad.mit.edu	37	4	47570852	47570852	+	Splice_Site	SNP	A	A	G			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr4:47570852A>G	ENST00000273859.3	+	16	3122		c.e16-1			NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D						ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCTTGTTTCAAGGATGCCTGT	0.413													23	3					0	0	1	0	0	G	47570852	A	G	47570852	5	3	164	1	0	0	0	0	0	0	1	0	1117	86	3	4	2910	4	ATP10D	4	47570852	Splice_Site	SNP	A	TCGA-WB-A81J-01A-11D-A35I-08		47570852	143583424	4	2807											
ABCA13	154664	broad.mit.edu	37	7	48431693	48431693	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr7:48431693G>A	ENST00000435803.1	+	38	11854	c.11830G>A	c.(11830-11832)Gcg>Acg	p.A3944T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3944	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCATAAAGGCGCCTCAGTG	0.527													5	35					0	0	1	0	0	A	48431693	G	A	48431693	3	1	164	1	0	0	0	0	1	0	0	0	31	1203	42	3	11809	3	ABCA13	7	48431693	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		48431693	110706970	5	2808											
KIF26A	26153	broad.mit.edu	37	14	104645060	104645061	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr14:104645060_104645061delCC	ENST00000315264.7	+	12	5245_5246	c.4867_4868delCC	c.(4867-4869)cfs	p.P1623fs	KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P1762fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1762					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTCAGCGGCCCCGCCCCACC	0.703													2	4	---	---	---	---						-	104645061	CC	-	104645060	7	5	164	1	0	1	0	1	0	0	0	0	8336	739	26	0	5334	0	KIF26A	14	104645060	Frame_Shift_Del	DEL	CC	TCGA-WB-A81J-01A-11D-A35I-08		104645060	2704480	6	2809											
MYH4	4622	broad.mit.edu	37	17	10359164	10359164	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr17:10359164G>A	ENST00000255381.2	-	18	2133	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATGCACCGCACAAAGTGG	0.433													3	46					0	0	1	0	0	A	10359164	G	A	10359164	3	1	164	1	0	0	0	0	1	0	0	0	10085	1086	38	1	3888	1	MYH4	17	10359164	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		10359164	70836046	7	2810											
CBLN2	147381	broad.mit.edu	37	18	70205425	70205425	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr18:70205425C>A	ENST00000269503.4	-	5	1434	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L	CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	221	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGAGGAAACACCAAGAAGCCC	0.512													6	50					8.12818e-05	9.14421e-05	1	1	0	A	70205425	C	A	70205425	3	1	164	1	0	0	0	0	1	0	0	0	2723	507	18	5	17	5	CBLN2	18	70205425	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		70205425	7871823	8	2811											
HNRNPM	4670	broad.mit.edu	37	19	8551959	8551959	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr19:8551959G>A	ENST00000348943.3	+	16	2144	c.1912_splice	c.e16+1	p.G638_splice	HNRNPM_ENST00000325495.4_Splice_Site_p.G677_splice	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	677					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CAACGAGTGCGGTAAGTGTTG	0.527													4	94					0	0	1	0	0	A	8551959	G	A	8551959	5	1	164	1	0	0	0	0	0	0	1	0	7312	1130	39	2	2087	2	HNRNPM	19	8551959	Splice_Site	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		8551959	50577024	9	2812											
DIDO1	11083	broad.mit.edu	37	20	61512558	61512558	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr20:61512558G>T	ENST00000266070.4	-	16	5075	c.4750C>A	c.(4750-4752)Cgt>Agt	p.R1584S	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1584					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCACCACGTGCCGAGAGC	0.706													20	18					0.000175454	0.000189491	1	1	0	T	61512558	G	T	61512558	3	4	164	1	0	0	0	0	1	0	0	0	4550	1145	40	5	1976	5	DIDO1	20	61512558	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		61512558	1512962	10	2813											
CRYBB1	1414	broad.mit.edu	37	22	26997913	26997913	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr22:26997913C>G	ENST00000215939.2	-	5	635	c.505G>C	c.(505-507)Gac>Cac	p.D169H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGTGCGTCGTCCCCCTGGATC	0.607													19	20					0	0	1	0	0	G	26997913	C	G	26997913	3	3	164	1	0	0	0	0	1	0	0	0	3933	855	30	5	261	5	CRYBB1	22	26997913	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		26997913	24306653	11	2814											
ZBED1	9189	broad.mit.edu	37	X	2408700	2408700	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:2408700C>T	ENST00000381223.4	-	2	264	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	21						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCTCTTGGCGCGGGGGTGG	0.582													4	172					0	0	1	0	0	T	2408700	C	T	2408700	3	4	164	1	0	0	0	0	1	0	0	0	17577	768	27	1	2027	1	ZBED1	23	2408700	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		2408700	152861860	12	2815											
SYN1	6853	broad.mit.edu	37	X	47435571	47435571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:47435571delC	ENST00000295987.7	-	9	1241	c.1117delG	c.(1117-1119)aafs	p.E373fs	SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	373	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TGTAGCGCTTCCACTGCGCAG	0.562													2	4	---	---	---	---						-	47435571	C	-	47435571	7	5	164	1	0	1	0	1	0	0	0	0	15497	864	30	0	1020	0	SYN1	23	47435571	Frame_Shift_Del	DEL	C	TCGA-WB-A81J-01A-11D-A35I-08	45026871	47435571	107834989	13	2816											
SUV39H1	6839	broad.mit.edu	37	X	48558633	48558633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:48558633delC	ENST00000376687.3	+	3	507	c.317delC	c.(316-318)acfs	p.T106fs	SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs|SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	106					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CGGTCAAAGACCCCCCGGCAC	0.627													2	4	---	---	---	---						-	48558633	C	-	48558633	7	5	164	1	0	1	0	1	0	0	0	0	15468	507	18	0	327	0	SUV39H1	23	48558633	Frame_Shift_Del	DEL	C	TCGA-WB-A81J-01A-11D-A35I-08	1123062	48558633	106711927	14	2817											
INPP5B	3633	broad.mit.edu	37	1	38397417	38397417	+	Silent	SNP	G	G	T			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr1:38397417G>T	ENST00000373023.2	-	7	793	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	INPP5B_ENST00000373021.1_Silent_p.R234R|INPP5B_ENST00000373027.1_5'UTR|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373026.1_Silent_p.R234R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCTCATCCCGCCGCCCGTCC	0.692													3	19					0.004672	0.0051392	1	1	0	T	38397417	G	T	38397417	2	4	165	1	0	0	0	0	0	0	0	1	7799	1102	38	5		5	INPP5B	1	38397417	Silent	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08		38397417	210853204	1	2818											
HAO2	51179	broad.mit.edu	37	1	119934877	119934877	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr1:119934877G>A	ENST00000361035.4	+	7	1238	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	HAO2_ENST00000325945.3_Missense_Mutation_p.G306S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	306	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AATCCTATGGGGCCTTGCCTG	0.498													3	25					0	0	1	0	0	A	119934877	G	A	119934877	3	1	165	1	0	0	0	0	1	0	0	0	6993	1232	43	3	934	3	HAO2	1	119934877	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08	81537460	119934877	129315744	2	2819											
CD244	51744	broad.mit.edu	37	1	160801173	160801173	+	Silent	SNP	G	G	A			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr1:160801173G>A	ENST00000368034.4	-	9	1239	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	CD244_ENST00000368033.3_Silent_p.S359S|CD244_ENST00000322302.7_Silent_p.S262S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	359					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCTTTGCGGCTCAATCGAG	0.458													4	110					0	0	1	0	0	A	160801173	G	A	160801173	2	1	165	1	0	0	0	0	0	0	0	1	3009	1194	42	3		3	CD244	1	160801173	Silent	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08	40866296	160801173	88449448	3	2820											
SPEG	10290	broad.mit.edu	37	2	220348147	220348147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr2:220348147delA	ENST00000312358.7	+	30	6094	c.5962delA	c.(5962-5964)gcfs	p.S1988fs	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1988					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGCTCCCAGCCCAGAGGC	0.731													2	4	---	---	---	---						-	220348147	A	-	220348147	7	5	165	1	0	1	0	1	0	0	0	0	15092	188	7	0	6092	0	SPEG	2	220348147	Frame_Shift_Del	DEL	A	TCGA-WB-A81K-01A-11D-A35I-08		220348147	22851226	4	2821											
FAT4	79633	broad.mit.edu	37	4	126408600	126408600	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr4:126408600C>G	ENST00000394329.3	+	16	12930	c.12917C>G	c.(12916-12918)aCt>aGt	p.T4306S	FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4306	Laminin G-like 2.				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						CACTGGCACACTTTTCTAATT	0.398													5	62					0	0	1	0	0	G	126408600	C	G	126408600	3	3	165	1	0	0	0	0	1	0	0	0	5725	565	20	5	12979	5	FAT4	4	126408600	Missense_Mutation	SNP	C	TCGA-WB-A81K-01A-11D-A35I-08		126408600	64745676	5	2822											
FBXO8	26269	broad.mit.edu	37	4	175183979	175183979	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr4:175183979T>C	ENST00000393674.2	-	2	1127	c.265A>G	c.(265-267)Act>Gct	p.T89A	FBXO8_ENST00000503293.1_Intron	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	89	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CAAAGGTCAGTTGCATTCAGG	0.423													9	50					0	0	1	0	0	C	175183979	T	C	175183979	3	2	165	1	0	0	0	0	1	0	0	0	5794	1725	60	4	714	4	FBXO8	4	175183979	Missense_Mutation	SNP	T	TCGA-WB-A81K-01A-11D-A35I-08	48775379	175183979	15970297	6	2823											
NSUN2	54888	broad.mit.edu	37	5	6600272	6600272	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr5:6600272G>T	ENST00000264670.6	-	19	2382	c.2071C>A	c.(2071-2073)Ccc>Acc	p.P691T	NSUN2_ENST00000539938.1_Missense_Mutation_p.P455T|NSUN2_ENST00000506139.1_Missense_Mutation_p.P656T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	691						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCATTCTTGGGCACAAAAGTT	0.498													3	41					0.115264	0.115264	1	1	0	T	6600272	G	T	6600272	3	4	165	1	0	0	0	0	1	0	0	0	10726	1203	42	5	236	5	NSUN2	5	6600272	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08		6600272	174314988	7	2824											
SLC36A2	153201	broad.mit.edu	37	5	150722489	150722489	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr5:150722489T>A	ENST00000335244.4	-	4	529	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.N134Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	134					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTTGGGGTTGGCTTCTAGT	0.517													5	68					0	0	1	0	0	A	150722489	T	A	150722489	3	1	165	1	0	0	0	0	1	0	0	0	14649	1812	63	5	1079	5	SLC36A2	5	150722489	Missense_Mutation	SNP	T	TCGA-WB-A81K-01A-11D-A35I-08	144122217	150722489	30192771	8	2825											
ECD	11319	broad.mit.edu	37	10	74899424	74899424	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr10:74899424A>T	ENST00000372979.4	-	10	1405	c.1199T>A	c.(1198-1200)cTt>cAt	p.L400H	ECD_ENST00000454759.1_Missense_Mutation_p.L357H|ECD_ENST00000430082.1_Missense_Mutation_p.L433H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	400					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TTCTTTCTTAAGGTCTTCTAT	0.348													17	220					0	0	1	0	0	T	74899424	A	T	74899424	3	4	165	1	0	0	0	0	1	0	0	0	4914	72	3	5	755	5	ECD	10	74899424	Missense_Mutation	SNP	A	TCGA-WB-A81K-01A-11D-A35I-08		74899424	60635323	9	2826											
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)ggc>g	p.EG444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66													7	33	---	---	---	---						-	119535680	CCT	-	119535678	7	5	165	1	0	1	0	1	0	0	0	0	12891	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-WB-A81K-01A-11D-A35I-08		119535678	15470838	10	2827											
NDNL2	56160	broad.mit.edu	37	15	29561154	29561154	+	Silent	SNP	C	C	T			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr15:29561154C>T	ENST00000332303.4	-	1	879	c.756G>A	c.(754-756)ccG>ccA	p.P252P	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	252	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTTGGTTCGCGGGCCCCACT	0.532													4	150					0	0	1	0	0	T	29561154	C	T	29561154	2	4	165	1	0	0	0	0	0	0	0	1	10295	755	27	1		1	NDNL2	15	29561154	Silent	SNP	C	TCGA-WB-A81K-01A-11D-A35I-08		29561154	72970238	11	2828											
PRTG	283659	broad.mit.edu	37	15	55965852	55965852	+	Silent	SNP	A	A	G			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr15:55965852A>G	ENST00000389286.4	-	10	1616	c.1569T>C	c.(1567-1569)atT>atC	p.I523I		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	523	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTGTCAAACTAATTTCAGGAG	0.443													8	55					0	0	1	0	0	G	55965852	A	G	55965852	2	3	165	1	0	0	0	0	0	0	0	1	12687	358	13	4		4	PRTG	15	55965852	Silent	SNP	A	TCGA-WB-A81K-01A-11D-A35I-08	26404698	55965852	46565540	12	2829											
MINK1	50488	broad.mit.edu	37	17	4793935	4793937	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:4793935_4793937delCAG	ENST00000355280.6	+	14	1667_1669	c.1471_1473delCAG	c.(1471-1473)del	p.Q495del	MINK1_ENST00000347992.7_In_Frame_Del_p.Q495del|MINK1_ENST00000453408.3_In_Frame_Del_p.Q495del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	495					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						gcttcagaaacagcagcagcagc	0.611													2	4	---	---	---	---						-	4793937	CAG	-	4793935	7	5	165	1	0	1	0	1	0	0	0	0	9635	479	17	0	1264	0	MINK1	17	4793935	In_Frame_Del	DEL	CAG	TCGA-WB-A81K-01A-11D-A35I-08		4793935	76401275	13	2830											
TAOK1	57551	broad.mit.edu	37	17	27834971	27834971	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:27834971G>T	ENST00000261716.3	+	14	1915	c.1396G>T	c.(1396-1398)Ggc>Tgc	p.G466C	TAOK1_ENST00000536202.1_Missense_Mutation_p.G466C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	466					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAAATGTCTGGCTATAAGCG	0.393													3	33					6.4e-05	7.41053e-05	1	1	0	T	27834971	G	T	27834971	3	4	165	1	0	0	0	0	1	0	0	0	15604	1348	47	5	1446	5	TAOK1	17	27834971	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08	23041036	27834971	53360239	14	2831											
KAT2A	2648	broad.mit.edu	37	17	40273004	40273005	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:40273004_40273005delCT	ENST00000225916.5	-	1	371_372	c.318_319delAG	c.(316-321)ctggfs	p.LG106fs	CTD-2132N18.3_ENST00000592574.1_Intron	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	106					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGAAGACCCCTAGCTTCTCAA	0.693													2	4	---	---	---	---						-	40273005	CT	-	40273004	7	5	165	1	0	1	0	1	0	0	0	0	8025	681	24	0	2266	0	KAT2A	17	40273004	Frame_Shift_Del	DEL	CT	TCGA-WB-A81K-01A-11D-A35I-08	12438033	40273004	40922206	15	2832											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													6	103					0	0	1	0	0	C	11058353	T	C	11058353	1	2	165	0	1	0	0	0	0	0	0	0	1290	1769	61	4		4	BAGE2	21	11058353	RNA	SNP	T	TCGA-WB-A81K-01A-11D-A35I-08		11058353	37071542	16	2833											
FAF1	11124	broad.mit.edu	37	1	51121170	51121170	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:51121170T>C	ENST00000396153.2	-	8	1139	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	FAF1_ENST00000371778.4_Missense_Mutation_p.I230V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	230					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGAACGGGGATACTTGTAAGG	0.368													25	5					0	0	1	0	0	C	51121170	T	C	51121170	3	2	166	1	0	0	0	0	1	0	0	0	5400	1406	49	4	1312	4	FAF1	1	51121170	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08		51121170	198129451	1	2834											
CSDE1	7812	broad.mit.edu	37	1	115272911	115272912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:115272911_115272912insC	ENST00000438362.2	-	12	1839_1840	c.1461_1462insG	c.(1459-1464)ccaaacfs	p.N488fs	CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000358528.4_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.N312fs|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.N457fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	442	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGTGGTTTTAGGATTGGAAA	0.381													36	8	---	---	---	---						C	115272912	-	C	115272911	7	5	166	1	0	1	1	0	0	0	0	0	3954	1763	61	0	1108	0	CSDE1	1	115272911	Frame_Shift_Ins	INS	-	TCGA-WB-A81M-01A-11D-A35I-08	64151741	115272911	133977710	2	2835											
LRRN2	10446	broad.mit.edu	37	1	204587794	204587794	+	Silent	SNP	G	G	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:204587794G>A	ENST00000367175.1	-	1	3539	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	LRRN2_ENST00000367176.3_Silent_p.L443L|LRRN2_ENST00000367177.3_Silent_p.L443L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	443	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGGCAATGCAGCACCATGCTC	0.632													3	30					0	0	1	0	0	A	204587794	G	A	204587794	2	1	166	1	0	0	0	0	0	0	0	1	9080	962	34	3		3	LRRN2	1	204587794	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08	89314883	204587794	44662827	3	2836											
MTR	4548	broad.mit.edu	37	1	237024423	237024423	+	Splice_Site	SNP	A	A	T			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323													6	17					0	0	1	0	0	T	237024423	A	T	237024423	5	4	166	1	0	0	0	0	0	0	1	0	10006	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-WB-A81M-01A-11D-A35I-08	32436629	237024423	12226198	4	2837											
SPEG	10290	broad.mit.edu	37	2	220348359	220348359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr2:220348359delG	ENST00000312358.7	+	30	6306	c.6174delG	c.(6172-6174)ctfs	p.L2058fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2058					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGAGGCCTGGGTGAGGGCG	0.776													2	4	---	---	---	---						-	220348359	G	-	220348359	7	5	166	1	0	1	0	1	0	0	0	0	15092	1335	47	0	6304	0	SPEG	2	220348359	Frame_Shift_Del	DEL	G	TCGA-WB-A81M-01A-11D-A35I-08		220348359	22851014	5	2838											
KBTBD8	84541	broad.mit.edu	37	3	67054375	67054375	+	Silent	SNP	G	G	T			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr3:67054375G>T	ENST00000295568.4	+	3	1037	c.906G>T	c.(904-906)ggG>ggT	p.G302G	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.G328G	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	328										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GAGAAGTTGGGATTCTTGTAT	0.433													11	103					0.000978159	0.00111154	1	1	0	T	67054375	G	T	67054375	2	4	166	1	0	0	0	0	0	0	0	1	8043	1161	41	5		5	KBTBD8	3	67054375	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		67054375	130968055	6	2839											
KIT	3815	broad.mit.edu	37	4	55575675	55575675	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr4:55575675G>A	ENST00000288135.5	+	7	1298	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	401	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGTCAATGCTGCCATAGC	0.368		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				4	84					0	0	1	0	0	A	55575675	G	A	55575675	3	1	166	1	0	0	0	0	1	0	0	0	8372	1319	46	3	1227	3	KIT	4	55575675	Missense_Mutation	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		55575675	135578601	7	2840											
RBM17	84991	broad.mit.edu	37	10	6154185	6154185	+	Silent	SNP	G	G	A	rs148263630	byFrequency	TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr10:6154185G>A	ENST00000446108.1	+	8	1361	c.717G>A	c.(715-717)gcG>gcA	p.A239A	RBM17_ENST00000379888.4_Silent_p.A239A	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	239	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GCACGGTGGCGCACAAGATCA	0.557													3	36					0	0	1	0	0	A	6154185	G	A	6154185	2	1	166	1	0	0	0	0	0	0	0	1	13171	1074	38	1		1	RBM17	10	6154185	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		6154185	129380562	8	2841											
PAOX	196743	broad.mit.edu	37	10	135193918	135193918	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr10:135193918C>A	ENST00000278060.5	+	2	680	c.597C>A	c.(595-597)agC>agA	p.S199R	PAOX_ENST00000357296.3_Missense_Mutation_p.S199R|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000480071.2_Missense_Mutation_p.S199R	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	337					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCACCCACAGCATGGACCTGG	0.627													3	34					0.004672	0.00486667	1	1	0	A	135193918	C	A	135193918	3	1	166	1	0	0	0	0	1	0	0	0	11470	709	25	5	603	5	PAOX	10	135193918	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	129039733	135193918	340829	9	2842											
MUC2	4583	broad.mit.edu	37	11	1090951	1090951	+	Frame_Shift_Del	DEL	T	T	-	rs72655327		TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:1090951delT	ENST00000441003.2	+	28	3873	c.3846delT	c.(3844-3846)acfs	p.T1288fs	MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1289fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1288						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccttcaccactaccaccacca	0.617													2	4	---	---	---	---						-	1090951	T	-	1090951	7	5	166	1	0	1	0	1	0	0	0	0	10023	1509	53	0	3956	0	MUC2	11	1090951	Frame_Shift_Del	DEL	T	TCGA-WB-A81M-01A-11D-A35I-08		1090951	133915565	10	2843											
PANX3	116337	broad.mit.edu	37	11	124489205	124489205	+	Silent	SNP	C	C	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:124489205C>A	ENST00000284288.2	+	4	620	c.553C>A	c.(553-555)Cga>Aga	p.R185R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	185					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TCGGAAAGAACGATACTTTGA	0.488													21	28					3.5997e-14	4.49962e-14	1	1	0	A	124489205	C	A	124489205	2	1	166	1	0	0	0	0	0	0	0	1	11469	528	19	5		5	PANX3	11	124489205	Silent	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	123398254	124489205	10517311	11	2844											
ROBO3	64221	broad.mit.edu	37	11	124739959	124739959	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:124739959T>C	ENST00000397801.1	+	4	953	c.761T>C	c.(760-762)gTa>gCa	p.V254A	ROBO3_ENST00000538940.1_Missense_Mutation_p.V232A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	254					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAAGTCATGGTACTGGGTAGG	0.522													19	18					0	0	1	0	0	C	124739959	T	C	124739959	3	2	166	1	0	0	0	0	1	0	0	0	13567	1638	57	4	775	4	ROBO3	11	124739959	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08	250754	124739959	10266557	12	2845											
PIF1	80119	broad.mit.edu	37	15	65108897	65108897	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr15:65108897G>A	ENST00000268043.4	-	12	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	PIF1_ENST00000333425.6_Missense_Mutation_p.A581V|PIF1_ENST00000559239.1_Missense_Mutation_p.A581V			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	581	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCGAGAAAGGGCCACATAGGC	0.622													8	60					0	0	1	0	0	A	65108897	G	A	65108897	3	1	166	1	0	0	0	0	1	0	0	0	11931	1203	42	3	191	3	PIF1	15	65108897	Missense_Mutation	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		65108897	37422495	13	2846											
ARID3A	1820	broad.mit.edu	37	19	964334	964334	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:964334C>A	ENST00000263620.3	+	5	1180	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	285	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGGCCTCGTGGAGGT	0.612													3	24					0.150653	0.150653	1	1	0	A	964334	C	A	964334	3	1	166	1	0	0	0	0	1	0	0	0	913	681	24	5	867	5	ARID3A	19	964334	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08		964334	58164649	14	2847											
PRX	57716	broad.mit.edu	37	19	40900182	40900182	+	Silent	SNP	C	C	T			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:40900182C>T	ENST00000324001.7	-	7	4347	c.4077G>A	c.(4075-4077)gaG>gaA	p.E1359E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCcctcttcctcctcctcct	0.697													3	19					0	0	1	0	0	T	40900182	C	T	40900182	2	4	166	1	0	0	0	0	0	0	0	1	12691	680	24	3		3	PRX	19	40900182	Silent	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	39935848	40900182	18228801	15	2848											
EHD2	30846	broad.mit.edu	37	19	48239781	48239781	+	Silent	SNP	G	G	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:48239781G>A	ENST00000263277.3	+	5	1322	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.Q221Q	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	357					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGATTGCCAGAAAATGCAGG	0.532													16	20					0	0	1	0	0	A	48239781	G	A	48239781	2	1	166	1	0	0	0	0	0	0	0	1	5004	933	33	3		3	EHD2	19	48239781	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08	7339599	48239781	10889202	16	2849											
SALL4	57167	broad.mit.edu	37	20	50407310	50407310	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr20:50407310C>T	ENST00000217086.4	-	2	1823	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	571					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACTCGGTGGCAAATGAGACA	0.547													50	58					0	0	1	0	0	T	50407310	C	T	50407310	3	4	166	1	0	0	0	0	1	0	0	0	13865	710	25	3	1461	3	SALL4	20	50407310	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08		50407310	12618210	17	2850											
SYTL4	94121	broad.mit.edu	37	X	99945087	99945087	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chrX:99945087T>A	ENST00000372981.1	-	8	979	c.793A>T	c.(793-795)Atc>Ttc	p.I265F	SYTL4_ENST00000454200.2_Missense_Mutation_p.I266F|SYTL4_ENST00000276141.6_Missense_Mutation_p.I265F|SYTL4_ENST00000263033.5_Missense_Mutation_p.I265F|SYTL4_ENST00000372989.1_Missense_Mutation_p.I265F|SYTL4_ENST00000455616.1_Missense_Mutation_p.I265F			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	265					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCTGAGGATTTTTCTGGTG	0.443													8	40					0	0	1	0	0	A	99945087	T	A	99945087	3	1	166	1	0	0	0	0	1	0	0	0	15542	1493	52	5	1262	5	SYTL4	23	99945087	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08		99945087	55325473	18	2851											
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													10	36	---	---	---	---						A	165712551	-	A	165712550	8	5	167	1	0	1	1	0	0	0	1	0	16055	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-WB-A81N-01A-11D-A35I-08		165712550	83538071	1	2852											
SOX11	6664	broad.mit.edu	37	2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)del	p.D233del		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7													2	4	---	---	---	---						-	5833528	GAC	-	5833526	7	5	167	1	0	1	0	1	0	0	0	0	14996	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-WB-A81N-01A-11D-A35I-08		5833526	237365847	2	2853											
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													2	3					0.115264	0.115264	1	1	0	T	13711709	G	T	13711709	3	4	167	1	0	0	0	0	1	0	0	0	13084	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08		13711709	157403358	3	2854											
PRPF40B	25766	broad.mit.edu	37	12	50036752	50036752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr12:50036752delG	ENST00000261897.1	+	21	2607	c.2056delG	c.(2056-2058)gcfs	p.G686fs	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.G699fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.G720fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	699					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCGAAAGCATGGCAGGAAAGG	0.547													2	4	---	---	---	---						-	50036752	G	-	50036752	7	5	167	1	0	1	0	1	0	0	0	0	12624	1348	47	0	2177	0	PRPF40B	12	50036752	Frame_Shift_Del	DEL	G	TCGA-WB-A81N-01A-11D-A35I-08		50036752	83815143	4	2855											
CCT2	10576	broad.mit.edu	37	12	69981763	69981763	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr12:69981763G>A	ENST00000543146.2	+	5	651	c.169G>A	c.(169-171)Gtt>Att	p.V57I	CCT2_ENST00000544368.2_Missense_Mutation_p.V104I|CCT2_ENST00000299300.6_Missense_Mutation_p.V104I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	104					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCTGTTACCGTTTTAGCAGC	0.358													4	49					0	0	1	0	0	A	69981763	G	A	69981763	3	1	167	1	0	0	0	0	1	0	0	0	2975	1145	40	1	328	1	CCT2	12	69981763	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08	19945011	69981763	63870132	5	2856											
SMYD4	114826	broad.mit.edu	37	17	1686379	1686379	+	Silent	SNP	A	A	G			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:1686379A>G	ENST00000305513.7	-	10	2378	c.2211T>C	c.(2209-2211)agT>agC	p.S737S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	737							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCATTTCAACACTGGACGGCC	0.517													3	32					0	0	1	0	0	G	1686379	A	G	1686379	2	3	167	1	0	0	0	0	0	0	0	1	14878	156	6	4		4	SMYD4	17	1686379	Silent	SNP	A	TCGA-WB-A81N-01A-11D-A35I-08		1686379	79508831	6	2857											
SLFN11	91607	broad.mit.edu	37	17	33690016	33690016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:33690016delT	ENST00000394566.1	-	4	1083	c.811delA	c.(811-813)gafs	p.R272fs	SLFN11_ENST00000308377.4_Frame_Shift_Del_p.R272fs	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	272						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)		ATTTTCCTTCTCAAAGAGTCA	0.398													8	86	---	---	---	---						-	33690016	T	-	33690016	7	5	167	1	0	1	0	1	0	0	0	0	14788	1559	54	0	1910	0	SLFN11	17	33690016	Frame_Shift_Del	DEL	T	TCGA-WB-A81N-01A-11D-A35I-08	32003637	33690016	47505194	7	2858											
RFNG	5986	broad.mit.edu	37	17	80007802	80007802	+	Silent	SNP	T	T	C			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:80007802T>C	ENST00000310496.4	-	5	661	c.654A>G	c.(652-654)ccA>ccG	p.P218P	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.P92P	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	218					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTGGCCCATGGGCTCATCT	0.652													6	24					0	0	1	0	0	C	80007802	T	C	80007802	2	2	167	1	0	0	0	0	0	0	0	1	13304	1451	51	4		4	RFNG	17	80007802	Silent	SNP	T	TCGA-WB-A81N-01A-11D-A35I-08	46317786	80007802	1187408	8	2859											
CSF2RA	0	broad.mit.edu	37	X	1407669	1407669	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:1407669G>T	ENST00000381524.3	+	6	547	c.361G>T	c.(361-363)Gct>Tct	p.A121S	CSF2RA_ENST00000417535.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A121S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A121S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	121						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGTACCGCTGCTCAGAATTT	0.507													61	111					1.1794e-34	1.34789e-34	1	1	0	T	1407669	G	T	1407669	3	4	167	1	0	0	0	0	1	0	0	0	3959	1319	46	5	375	5	CSF2RA	23	1407669	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08		1407669	153862891	9	2860											
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				3	24					0	0	1	0	0	T	66765161	A	T	66765161	3	4	167	1	0	0	0	0	1	0	0	0	833	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-WB-A81N-01A-11D-A35I-08	65357492	66765161	88505399	10	2861											
TKTL1	8277	broad.mit.edu	37	X	153557888	153557888	+	Silent	SNP	C	C	T			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:153557888C>T	ENST00000369915.3	+	13	1830	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	TKTL1_ENST00000217905.7_Silent_p.C287C|TKTL1_ENST00000369912.2_Silent_p.C491C	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	547					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCTGTCTGCGCAGCCGTCT	0.542													19	89					0	0	1	0	0	T	153557888	C	T	153557888	2	4	167	1	0	0	0	0	0	0	0	1	15995	776	27	1		1	TKTL1	23	153557888	Silent	SNP	C	TCGA-WB-A81N-01A-11D-A35I-08	86792727	153557888	1712672	11	2862											
CTH	1491	broad.mit.edu	37	1	70904459	70904459	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:70904459G>C	ENST00000411986.2	+	10	1243	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CTH_ENST00000346806.2_Missense_Mutation_p.E337Q|CTH_ENST00000370938.3_Missense_Mutation_p.E381Q	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	381					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGTGGGCTTAGAGGATGAGGA	0.428													28	14					0	0	1	0	0	C	70904459	G	C	70904459	3	2	168	1	0	0	0	0	1	0	0	0	4033	943	33	5	1183	5	CTH	1	70904459	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		70904459	178346162	1	2863											
SPHKAP	80309	broad.mit.edu	37	2	228883997	228883997	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr2:228883997C>A	ENST00000392056.3	-	7	1619	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	525						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTTCGAGACCACTTGCTCC	0.507													3	51					0.00024832	0.00025608	1	1	0	A	228883997	C	A	228883997	3	1	168	1	0	0	0	0	1	0	0	0	15104	507	18	5	3553	5	SPHKAP	2	228883997	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		228883997	14315376	2	2864											
PRICKLE2	166336	broad.mit.edu	37	3	64184482	64184482	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:64184482G>A	ENST00000295902.6	-	2	707	c.122C>T	c.(121-123)cCg>cTg	p.P41L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	41	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGACCCGGCGGGACCCAGGC	0.512													18	39					0	0	1	0	0	A	64184482	G	A	64184482	3	1	168	1	0	0	0	0	1	0	0	0	12539	1116	39	2	2440	2	PRICKLE2	3	64184482	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		64184482	133837948	3	2865											
ATR	545	broad.mit.edu	37	3	142281438	142281438	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:142281438A>G	ENST00000350721.4	-	4	927	c.806T>C	c.(805-807)tTt>tCt	p.F269S	ATR_ENST00000383101.3_Missense_Mutation_p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	269					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGCTGAAAAAAGTGCTAGC	0.358								Other conserved DNA damage response genes					23	44					0	0	1	0	0	G	142281438	A	G	142281438	3	3	168	1	0	0	0	0	1	0	0	0	1202	14	1	4	7304	4	ATR	3	142281438	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08	78096956	142281438	55740992	4	2866											
PCDHA5	0	broad.mit.edu	37	5	140202503	140202503	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr5:140202503C>A	ENST00000529859.1	+	1	1143	c.1143C>A	c.(1141-1143)aaC>aaA	p.N381K	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.577													4	93					2.56e-06	2.72516e-06	1	1	0	A	140202503	C	A	140202503	3	1	168	1	0	0	0	0	1	0	0	0	11574	535	19	5	1145	5	PCDHA5	5	140202503	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		140202503	40712757	5	2867											
TRRAP	8295	broad.mit.edu	37	7	98586584	98586584	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:98586584G>A	ENST00000359863.4	+	62	9807	c.9598G>A	c.(9598-9600)Gcc>Acc	p.A3200T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3200	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAATACTTAGCCAAGGTGAG	0.522													4	13					0	0	1	0	0	A	98586584	G	A	98586584	3	1	168	1	0	0	0	0	1	0	0	0	16662	971	34	3	9749	3	TRRAP	7	98586584	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		98586584	60552079	6	2868											
EHMT1	79813	broad.mit.edu	37	9	140693307	140693307	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr9:140693307G>C	ENST00000460843.1	+	17	2575	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	850					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532													18	41					0	0	1	0	0	C	140693307	G	C	140693307	3	2	168	1	0	0	0	0	1	0	0	0	5009	1000	35	5	2663	5	EHMT1	9	140693307	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		140693307	520124	7	2869											
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr10:5995110C>A	ENST00000525219.2	-	7	938	c.644G>T	c.(643-645)tGg>tTg	p.W215L	IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000379977.3_Missense_Mutation_p.W251L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557													6	64					0.00116845	0.00116845	1	1	0	A	5995110	C	A	5995110	3	1	168	1	0	0	0	0	1	0	0	0	7676	595	21	5	55	5	IL15RA	10	5995110	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		5995110	129539637	8	2870											
ASRGL1	80150	broad.mit.edu	37	11	62124546	62124546	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr11:62124546A>G	ENST00000415229.2	+	4	636	c.421A>G	c.(421-423)Aca>Gca	p.T141A	ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	141					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAAACTGGTGACAGAGAGAAA	0.463													20	26					0	0	1	0	0	G	62124546	A	G	62124546	3	3	168	1	0	0	0	0	1	0	0	0	1059	275	10	4	431	4	ASRGL1	11	62124546	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		62124546	72881970	9	2871											
CASC4	113201	broad.mit.edu	37	15	44673018	44673018	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:44673018C>T	ENST00000299957.6	+	8	1215	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	CASC4_ENST00000345795.2_Missense_Mutation_p.H306Y|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	306						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACACATAAACCACAATGGAAA	0.343													20	24					0	0	1	0	0	T	44673018	C	T	44673018	3	4	168	1	0	0	0	0	1	0	0	0	2680	594	21	3	946	3	CASC4	15	44673018	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		44673018	57858374	10	2872											
SEMA7A	8482	broad.mit.edu	37	15	74706922	74706922	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:74706922G>A	ENST00000261918.4	-	10	1808	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	SEMA7A_ENST00000543145.2_Silent_p.H406H|SEMA7A_ENST00000542748.1_Silent_p.H255H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	420	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGGTCTCCCCGTGGCTGGCTT	0.537													8	134					0	0	1	0	0	A	74706922	G	A	74706922	2	1	168	1	0	0	0	0	0	0	0	1	14097	1136	40	1		1	SEMA7A	15	74706922	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	30033904	74706922	27824470	11	2873											
TOX3	27324	broad.mit.edu	37	16	52473705	52473705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr16:52473705A>T	ENST00000219746.9	-	7	1447	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	388					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTCATGGTTAAGGGTTTGGG	0.517													9	165					0	0	1	0	0	T	52473705	A	T	52473705	4	4	168	1	0	0	0	0	0	1	0	0	16440	372	13	5	571	5	TOX3	16	52473705	Nonsense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		52473705	37881048	12	2874											
LLGL1	3996	broad.mit.edu	37	17	18138460	18138460	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:18138460A>G	ENST00000316843.4	+	10	1214	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	373					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTGGTGCTGGACCTGCAGACT	0.652													4	18					0	0	1	0	0	G	18138460	A	G	18138460	3	3	168	1	0	0	0	0	1	0	0	0	8874	275	10	4	1156	4	LLGL1	17	18138460	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		18138460	63056750	13	2875											
NF1	4763	broad.mit.edu	37	17	29676174	29676177	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:29676174_29676177delCAGT	ENST00000358273.4	+	49	7609_7612	c.7226_7229delCAGT	c.(7225-7230)acfs	p.TV2409fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2409					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTGCAAGAACAGTCAGAATTTTA	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	2	---	---	---	---						-	29676177	CAGT	-	29676174	7	5	168	1	0	1	0	1	0	0	0	0	10403	478	17	0	7481	0	NF1	17	29676174	Frame_Shift_Del	DEL	CAGT	TCGA-WB-A81P-01A-11D-A35I-08	11537714	29676174	51519036	14	2876											
DNAH17	8632	broad.mit.edu	37	17	76510973	76510973	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:76510973G>A	ENST00000389840.5	-	26	4108	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	DNAH17_ENST00000585328.1_Silent_p.A1329A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCCACGAAGGCATCCCAGG	0.532													8	93					0	0	1	0	0	A	76510973	G	A	76510973	2	1	168	1	0	0	0	0	0	0	0	1	4629	987	35	3		3	DNAH17	17	76510973	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	46834799	76510973	4684237	15	2877											
SETBP1	26040	broad.mit.edu	37	18	42531452	42531452	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:42531452G>A	ENST00000282030.5	+	4	2443	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	716						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAATGTCAGCAAGAGGGGA	0.567									Schinzel-Giedion syndrome				3	29					0	0	1	0	0	A	42531452	G	A	42531452	3	1	168	1	0	0	0	0	1	0	0	0	14183	971	34	3	2350	3	SETBP1	18	42531452	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		42531452	35545796	16	2878											
MALT1	10892	broad.mit.edu	37	18	56411728	56411728	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:56411728G>A	ENST00000348428.3	+	15	2169		c.e15+1		RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Splice_Site	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1						activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTTCCACTTGTGAGTCTCTT	0.289			T	BIRC3	MALT								17	42					0	0	1	0	0	A	56411728	G	A	56411728	5	1	168	1	0	0	0	0	0	0	1	0	9252	1391	48	3	1970	3	MALT1	18	56411728	Splice_Site	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	13880276	56411728	21665520	17	2879											
KDSR	2531	broad.mit.edu	37	18	61018282	61018282	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:61018282C>T	ENST00000406396.3	-	6	839	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	150					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTGGGGTACACGCTGCCCAGG	0.547													4	74					0	0	1	0	0	T	61018282	C	T	61018282	3	4	168	1	0	0	0	0	1	0	0	0	8183	536	19	1	570	1	KDSR	18	61018282	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	4606554	61018282	17058966	18	2880											
NOTCH3	4854	broad.mit.edu	37	19	15290911	15290911	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:15290911C>T	ENST00000263388.2	-	20	3374	c.3299G>A	c.(3298-3300)cGt>cAt	p.R1100H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1100	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATATAGCCACGGCAGGTCCC	0.642													11	26					0	0	1	0	0	T	15290911	C	T	15290911	3	4	168	1	0	0	0	0	1	0	0	0	10597	536	19	1	3722	1	NOTCH3	19	15290911	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		15290911	43838072	19	2881											
ZNF507	22847	broad.mit.edu	37	19	32843786	32843786	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:32843786A>G	ENST00000311921.3	+	2	242	c.50A>G	c.(49-51)cAg>cGg	p.Q17R	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATTGGGGAACAGGAAGCTATA	0.358													23	49					0	0	1	0	0	G	32843786	A	G	32843786	3	3	168	1	0	0	0	0	1	0	0	0	18010	188	7	4	52	4	ZNF507	19	32843786	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08	17552875	32843786	26285197	20	2882											
MARK4	57787	broad.mit.edu	37	19	45797661	45797661	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:45797661C>T	ENST00000300843.4	+	14	1846	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MARK4_ENST00000262891.4_Missense_Mutation_p.R517C	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	517					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGCACAGAACGCCCGGGGGC	0.592													26	38					0	0	1	0	0	T	45797661	C	T	45797661	3	4	168	1	0	0	0	0	1	0	0	0	9365	536	19	1	1603	1	MARK4	19	45797661	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	12953875	45797661	13331322	21	2883											
LILRA2	0	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													3	60					0	0	1	0	0	T	55086932	C	T	55086932	3	4	168	1	0	0	0	0	1	0	0	0	8825	594	21	3	883	3	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	9289271	55086932	4042051	22	2884											
CEP250	11190	broad.mit.edu	37	20	34099388	34099388	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:34099388G>A	ENST00000397527.1	+	35	7982	c.7262G>A	c.(7261-7263)aGt>aAt	p.S2421N	CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2421					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGACTCAAAGTCTGACATCC	0.632													13	17					0	0	1	0	0	A	34099388	G	A	34099388	3	1	168	1	0	0	0	0	1	0	0	0	3274	1029	36	3	7388	3	CEP250	20	34099388	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		34099388	28926132	23	2885											
ATP9A	10079	broad.mit.edu	37	20	50329586	50329586	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:50329586G>A	ENST00000338821.5	-	4	619	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	119					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCGCCTCACGGATGACAGTG	0.622													3	22					0	0	1	0	0	A	50329586	G	A	50329586	3	1	168	1	0	0	0	0	1	0	0	0	1196	1116	39	2	2888	2	ATP9A	20	50329586	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	16230198	50329586	12695934	24	2886											
IGLL1	3543	broad.mit.edu	37	22	23915576	23915576	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr22:23915576G>A	ENST00000330377.2	-	3	636	c.519C>T	c.(517-519)taC>taT	p.Y173Y	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTGGCCGCGTACTTGTTGT	0.607													26	56					0	0	1	0	0	A	23915576	G	A	23915576	2	1	168	1	0	0	0	0	0	0	0	1	7637	1140	40	1		1	IGLL1	22	23915576	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		23915576	27388990	25	2887											
ARHGEF19	128272	broad.mit.edu	37	1	16532568	16532568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:16532568delC	ENST00000270747.3	-	8	1445	c.1309delG	c.(1309-1311)acfs	p.D437fs	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Frame_Shift_Del_p.D437fs	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	437	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTCCTGCAGGAAC	0.657													2	4	---	---	---	---						-	16532568	C	-	16532568	7	5	169	1	0	1	0	1	0	0	0	0	899	855	30	0	1135	0	ARHGEF19	1	16532568	Frame_Shift_Del	DEL	C	TCGA-WB-A81Q-01A-11D-A35I-08		16532568	232718053	1	2888											
MAN1C1	57134	broad.mit.edu	37	1	25944705	25944705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:25944705delC	ENST00000374332.4	+	1	747	c.417delC	c.(415-417)gtfs	p.V139fs	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	139					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACGAGGGCGTCCCTTTCCGCT	0.716													2	4	---	---	---	---						-	25944705	C	-	25944705	7	5	169	1	0	1	0	1	0	0	0	0	9263	842	30	0	419	0	MAN1C1	1	25944705	Frame_Shift_Del	DEL	C	TCGA-WB-A81Q-01A-11D-A35I-08	9412137	25944705	223305916	2	2889											
SPTA1	6708	broad.mit.edu	37	1	158644382	158644382	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:158644382G>A	ENST00000368148.3	-	9	1376	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	SPTA1_ENST00000368147.3_Missense_Mutation_p.P399L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACATCTGTTGGCAGCTCATC	0.512													11	299					0	0	1	0	0	A	158644382	G	A	158644382	3	1	169	1	0	0	0	0	1	0	0	0	15172	1348	47	3	6239	3	SPTA1	1	158644382	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	132699677	158644382	90606239	3	2890											
MGAT4A	11320	broad.mit.edu	37	2	99256446	99256446	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99256446G>A	ENST00000393487.1	-	12	1460	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	MGAT4A_ENST00000264968.2_Missense_Mutation_p.P383S|MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	383					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGAAGTAATGGTTTCATATAA	0.343													6	65					0	0	1	0	0	A	99256446	G	A	99256446	3	1	169	1	0	0	0	0	1	0	0	0	9595	1261	44	3	559	3	MGAT4A	2	99256446	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		99256446	143942927	4	2891											
EIF5B	9669	broad.mit.edu	37	2	99978277	99978277	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99978277G>T	ENST00000289371.5	+	4	1115	c.913G>T	c.(913-915)Gca>Tca	p.A305S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	305					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCCACAGCTGCAGAAGGTTG	0.388													4	170					0.150653	0.154157	1	1	0	T	99978277	G	T	99978277	3	4	169	1	0	0	0	0	1	0	0	0	5072	1319	46	5	927	5	EIF5B	2	99978277	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	721831	99978277	143221096	5	2892											
NEB	4703	broad.mit.edu	37	2	152466570	152466570	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:152466570T>C	ENST00000397345.3	-	81	12285	c.12083A>G	c.(12082-12084)gAt>gGt	p.D4028G	NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000604864.1_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000427231.2_Missense_Mutation_p.D4028G|NEB_ENST00000172853.10_Missense_Mutation_p.D3785G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4027					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGATCATCTTCAATGCT	0.418													19	31					0	0	1	0	0	C	152466570	T	C	152466570	3	2	169	1	0	0	0	0	1	0	0	0	10349	1435	50	4	14011	4	NEB	2	152466570	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	52488293	152466570	90732803	6	2893											
SPHKAP	80309	broad.mit.edu	37	2	228881275	228881275	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:228881275T>C	ENST00000392056.3	-	7	4341	c.4295A>G	c.(4294-4296)gAa>gGa	p.E1432G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1432						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGATCTGTTTCAATCTGAAT	0.458													4	77					0	0	1	0	0	C	228881275	T	C	228881275	3	2	169	1	0	0	0	0	1	0	0	0	15104	1783	62	4	831	4	SPHKAP	2	228881275	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	76414705	228881275	14318098	7	2894											
PSMD1	5707	broad.mit.edu	37	2	231931688	231931688	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:231931688C>A	ENST00000308696.6	+	5	535	c.373C>A	c.(373-375)Cca>Aca	p.P125T	PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T|PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGAAAAAAAACCAATTGACCA	0.378													18	37					1.01871e-10	1.12058e-10	1	1	0	A	231931688	C	A	231931688	3	1	169	1	0	0	0	0	1	0	0	0	12741	507	18	5	391	5	PSMD1	2	231931688	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	3050413	231931688	11267685	8	2895											
MLPH	79083	broad.mit.edu	37	2	238419387	238419387	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:238419387G>A	ENST00000264605.3	+	3	575	c.281G>A	c.(280-282)cGc>cAc	p.R94H	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000445024.2_Missense_Mutation_p.R94H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	94	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGCTGTGGCCGCGTCCACCCG	0.597													3	46					0	0	1	0	0	A	238419387	G	A	238419387	3	1	169	1	0	0	0	0	1	0	0	0	9681	1087	38	1	287	1	MLPH	2	238419387	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	6487699	238419387	4779986	9	2896											
SETD2	29072	broad.mit.edu	37	3	47158161	47158161	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:47158161T>A	ENST00000409792.3	-	4	4580	c.4538A>T	c.(4537-4539)gAa>gTa	p.E1513V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1513	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACATGCTATTTCACCTTGAGC	0.353			"N, F, S, Mis"		clear cell renal carcinoma								7	144					0	0	1	0	0	A	47158161	T	A	47158161	3	1	169	1	0	0	0	0	1	0	0	0	14185	1783	62	5	3228	5	SETD2	3	47158161	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08		47158161	150864269	10	2897											
VPS8	23355	broad.mit.edu	37	3	184689502	184689502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:184689502C>T	ENST00000437079.3	+	40	3553	c.3382C>T	c.(3382-3384)Cag>Tag	p.Q1128*	VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1128							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGCTCTTTGCCAGAGAAATTC	0.408													15	9					0	0	1	0	0	T	184689502	C	T	184689502	4	4	169	1	0	0	0	0	0	1	0	0	17278	595	21	3	3532	3	VPS8	3	184689502	Nonsense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	137531341	184689502	13332928	11	2898											
PDS5A	23244	broad.mit.edu	37	4	39924324	39924324	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:39924324A>T	ENST00000303538.8	-	6	1111	c.572T>A	c.(571-573)aTg>aAg	p.M191K	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	191					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATAGAACTCATCAAATCTAG	0.333													3	19					0	0	1	0	0	T	39924324	A	T	39924324	3	4	169	1	0	0	0	0	1	0	0	0	11738	217	8	5	3586	5	PDS5A	4	39924324	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08		39924324	151229952	12	2899											
SHROOM3	57619	broad.mit.edu	37	4	77661845	77661845	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:77661845C>T	ENST00000296043.6	+	5	3472	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	840					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAGCTGAACCCCTAGGCAAC	0.562													23	81					0	0	1	0	0	T	77661845	C	T	77661845	3	4	169	1	0	0	0	0	1	0	0	0	14350	623	22	3	2537	3	SHROOM3	4	77661845	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	37737521	77661845	113492431	13	2900											
SLC22A5	6584	broad.mit.edu	37	5	131719958	131719958	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:131719958G>C	ENST00000245407.3	+	3	838	c.617G>C	c.(616-618)gGc>gCc	p.G206A	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	206					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTAGGCATGGGCCAGATCTCC	0.483													31	49					0	0	1	0	0	C	131719958	G	C	131719958	3	2	169	1	0	0	0	0	1	0	0	0	14512	1203	42	5	627	5	SLC22A5	5	131719958	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		131719958	49195302	14	2901											
H2AFY	9555	broad.mit.edu	37	5	134705828	134705828	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:134705828C>A	ENST00000511689.1	-	3	770	c.177G>T	c.(175-177)gaG>gaT	p.E59D	H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	59	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCAGAATCTCCGCTGTGG	0.587													3	16					0.00909568	0.00976122	1	1	0	A	134705828	C	A	134705828	3	1	169	1	0	0	0	0	1	0	0	0	6970	912	32	5	1064	5	H2AFY	5	134705828	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	2985870	134705828	46209432	15	2902											
ANKHD1	54882	broad.mit.edu	37	5	139889715	139889715	+	Silent	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:139889715G>A	ENST00000297183.6	+	22	4177	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V|ANKHD1_ENST00000360839.2_Silent_p.V1351V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGATGTGGATGCAGCAG	0.423													8	56					0	0	1	0	0	A	139889715	G	A	139889715	2	1	169	1	0	0	0	0	0	0	0	1	624	1335	47	3		3	ANKHD1	5	139889715	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	5183887	139889715	41025545	16	2903											
HEBP2	23593	broad.mit.edu	37	6	138726293	138726293	+	Silent	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:138726293T>C	ENST00000607197.1	+	2	391	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	38						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CCGGAAGTTATGAGATCCGAC	0.507													59	72					0	0	1	0	0	C	138726293	T	C	138726293	2	2	169	1	0	0	0	0	0	0	0	1	7078	1471	51	4		4	HEBP2	6	138726293	Silent	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08		138726293	32388774	17	2904											
TAB2	23118	broad.mit.edu	37	6	149718827	149718827	+	Missense_Mutation	SNP	A	A	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718827A>C	ENST00000367456.1	+	5	2268	c.1691A>C	c.(1690-1692)gAg>gCg	p.E564A	TAB2_ENST00000286332.5_Missense_Mutation_p.E564A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|TAB2_ENST00000536230.1_Missense_Mutation_p.E532A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	564					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TTAAAATCTGAGGTTAATGAA	0.368													5	130					0	0	1	0	0	C	149718827	A	C	149718827	3	2	169	1	0	0	0	0	1	0	0	0	15553	304	11	5	1701	5	TAB2	6	149718827	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	10992534	149718827	21396240	18	2905			1	6		2	2	47	A		4.160556e-05
TAB2	23118	broad.mit.edu	37	6	149718873	149718873	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718873A>T	ENST00000367456.1	+	5	2314	c.1737A>T	c.(1735-1737)agA>agT	p.R579S	TAB2_ENST00000286332.5_Missense_Mutation_p.R579S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|TAB2_ENST00000536230.1_Missense_Mutation_p.R547S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	579					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCCTGAAAAGATCAAATTCTA	0.343													5	100					0	0	1	0	0	T	149718873	A	T	149718873	3	4	169	1	0	0	0	0	1	0	0	0	15553	330	12	5	1747	5	TAB2	6	149718873	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	46	149718873	21396194	19	2906			1	6		2	2	47	A		4.160556e-05
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													3	27					0	0	1	0	0	C	78790136	T	C	78790136	3	2	169	1	0	0	0	0	1	0	0	0	11650	1479	51	4		4	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08		78790136	62423295	20	2907											
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:17757753G>C	ENST00000379472.3	+	1	234	c.204G>C	c.(202-204)ctG>ctC	p.L68L	KCNC1_ENST00000265969.6_Silent_p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCACATCCTGAACTACTACC	0.672													25	24					0	0	1	0	0	C	17757753	G	C	17757753	2	2	169	1	0	0	0	0	0	0	0	1	8058	1277	45	5		5	KCNC1	11	17757753	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		17757753	117248763	21	2908											
OR8I2	120586	broad.mit.edu	37	11	55860831	55860831	+	Silent	SNP	A	A	G			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:55860831A>G	ENST00000302124.2	+	1	79	c.48A>G	c.(46-48)ggA>ggG	p.G16G	OR8I2_ENST00000560768.1_Silent_p.G16G			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCTCTCTGGATTTGCAAATC	0.388													81	113					0	0	1	0	0	G	55860831	A	G	55860831	2	3	169	1	0	0	0	0	0	0	0	1	11287	320	12	4		4	OR8I2	11	55860831	Silent	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	38103078	55860831	79145685	22	2909											
TRPC6	7225	broad.mit.edu	37	11	101375232	101375232	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:101375232T>G	ENST00000344327.3	-	2	892	c.468A>C	c.(466-468)gaA>gaC	p.E156D	TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D|TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	156					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGAGAGGTTTTCTTTCTTGA	0.448													13	44					0	0	1	0	0	G	101375232	T	G	101375232	3	3	169	1	0	0	0	0	1	0	0	0	16644	1838	64	5	2375	5	TRPC6	11	101375232	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	45514401	101375232	33631284	23	2910											
MMP8	4317	broad.mit.edu	37	11	102584138	102584138	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:102584138C>A	ENST00000236826.3	-	10	1443	c.1345G>T	c.(1345-1347)Gct>Tct	p.A449S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	449	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACTCTCTGAGCAATAAGATCA	0.343													6	89					0.0293803	0.0307794	1	1	0	A	102584138	C	A	102584138	3	1	169	1	0	0	0	0	1	0	0	0	9717	710	25	5	62	5	MMP8	11	102584138	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	1208906	102584138	32422378	24	2911											
MED13L	23389	broad.mit.edu	37	12	116429391	116429391	+	Missense_Mutation	SNP	A	A	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr12:116429391A>C	ENST00000281928.3	-	17	3574	c.3368T>G	c.(3367-3369)tTt>tGt	p.F1123C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1123					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTGTCTTTAAAGATATTCAT	0.517													41	41					0	0	1	0	0	C	116429391	A	C	116429391	3	2	169	1	0	0	0	0	1	0	0	0	9481	14	1	5	3324	5	MED13L	12	116429391	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08		116429391	17422504	25	2912											
MLLT1	4298	broad.mit.edu	37	19	6270667	6270667	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:6270667G>C	ENST00000252674.7	-	2	279	c.116C>G	c.(115-117)cCc>cGc	p.P39R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	39	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACATTGCTCGGGGCCGCGGAC	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	30					0	0	1	0	0	C	6270667	G	C	6270667	3	2	169	1	0	0	0	0	1	0	0	0	9673	1232	43	5	1607	5	MLLT1	19	6270667	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		6270667	52858316	26	2913											
CEACAM6	4680	broad.mit.edu	37	19	42265395	42265395	+	Silent	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:42265395G>A	ENST00000199764.6	+	3	881	c.663G>A	c.(661-663)gcG>gcA	p.A221A	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	221	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGAACCCAGCGAGTGCCAACC	0.542													95	126					0	0	1	0	0	A	42265395	G	A	42265395	2	1	169	1	0	0	0	0	0	0	0	1	3218	1045	37	2		2	CEACAM6	19	42265395	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	35994728	42265395	16863588	27	2914											
JOSD2	126119	broad.mit.edu	37	19	51013652	51013652	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:51013652T>C	ENST00000598418.1	-	2	290	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A|JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	13	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TGGTACACGGTGGGTGGGCTC	0.662													42	43					0	0	1	0	0	C	51013652	T	C	51013652	3	2	169	1	0	0	0	0	1	0	0	0	8003	1696	59	4	545	4	JOSD2	19	51013652	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	8748257	51013652	8115331	28	2915											
ZNF672	79894	broad.mit.edu	37	1	249141581	249141581	+	Silent	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr1:249141581C>T	ENST00000306562.3	+	4	854	c.108C>T	c.(106-108)caC>caT	p.H36H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AACGAGCTCACGGCGGTGACG	0.642													6	4					0	0	1	0	0	T	249141581	C	T	249141581	2	4	170	1	0	0	0	0	0	0	0	1	18136	535	19	1		1	ZNF672	1	249141581	Silent	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		249141581	109040	1	2916											
UGT1A4	0	broad.mit.edu	37	2	234627834	234627834	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr2:234627834C>T	ENST00000373409.3	+	1	411	c.368C>T	c.(367-369)gCc>gTc	p.A123V	UGT1A8_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GTATCTTTGGCCCTTCATAGG	0.443													4	221					0	0	1	0	0	T	234627834	C	T	234627834	3	4	170	1	0	0	0	0	1	0	0	0	17007	739	26	3	370	3	UGT1A4	2	234627834	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		234627834	8571539	2	2917											
GRIP2	80852	broad.mit.edu	37	3	14536429	14536429	+	RNA	SNP	T	T	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:14536429T>C	ENST00000273083.3	-	0	2956							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATAGACACCTTTTTCCAGGA	0.612													3	60					0	0	1	0	0	C	14536429	T	C	14536429	1	2	170	0	1	0	0	0	0	0	0	0	6829	1606	56	4		4	GRIP2	3	14536429	RNA	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		14536429	183486001	3	2918											
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													4	228					0	0	1	0	0	A	98188581	G	A	98188581	3	1	170	1	0	0	0	0	1	0	0	0	11213	1116	39	2	163	2	OR5K1	3	98188581	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	83652152	98188581	99833849	4	2919											
CXXC4	80319	broad.mit.edu	37	4	105412355	105412355	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:105412355G>C	ENST00000394767.2	-	2	1055	c.605C>G	c.(604-606)tCc>tGc	p.S202C	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.S33C	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	33					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GTGTTCAGGGGATAAGGTGGA	0.562													15	208					0	0	1	0	0	C	105412355	G	C	105412355	3	2	170	1	0	0	0	0	1	0	0	0	4121	1174	41	5	506	5	CXXC4	4	105412355	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		105412355	85741921	5	2920											
NUDT6	11162	broad.mit.edu	37	4	123843575	123843575	+	Silent	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:123843575G>A	ENST00000304430.5	-	1	186	c.153C>T	c.(151-153)gaC>gaT	p.D51D	NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	51						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCCGAATCTGTCCAGCTCGC	0.711													3	15					0	0	1	0	0	A	123843575	G	A	123843575	2	1	170	1	0	0	0	0	0	0	0	1	10791	1368	48	3		3	NUDT6	4	123843575	Silent	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	18431220	123843575	67310701	6	2921											
CLPTM1L	81037	broad.mit.edu	37	5	1325911	1325911	+	Silent	SNP	T	T	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr5:1325911T>C	ENST00000320895.5	-	10	1358	c.1101A>G	c.(1099-1101)gcA>gcG	p.A367A	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000320927.6_Silent_p.A331A	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	367					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCATCTTCAATGCCTTCTTCA	0.458													45	71					0	0	1	0	0	C	1325911	T	C	1325911	2	2	170	1	0	0	0	0	0	0	0	1	3578	1451	51	4		4	CLPTM1L	5	1325911	Silent	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		1325911	179589349	7	2922											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			21	35					0	0	1	0	0	C	533874	T	C	533874	3	2	170	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		533874	134472642	8	2923											
APBB1	322	broad.mit.edu	37	11	6422898	6422898	+	Missense_Mutation	SNP	C	C	T	rs139600801		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:6422898C>T	ENST00000389906.2	-	9	1508	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000533407.1_Missense_Mutation_p.R209H|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	470	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCTTATCACGAGCTACGTA	0.597													3	48					0	0	1	0	0	T	6422898	C	T	6422898	3	4	170	1	0	0	0	0	1	0	0	0	755	536	19	1	747	1	APBB1	11	6422898	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08	5889024	6422898	128583618	9	2924											
PEX5	5830	broad.mit.edu	37	12	7360370	7360370	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr12:7360370C>T	ENST00000266563.5	+	10	1154	c.971C>T	c.(970-972)gCt>gTt	p.A324V	PEX5_ENST00000455147.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V|PEX5_ENST00000420616.2_Missense_Mutation_p.A361V	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	361					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TTTGAGGCAGCTGTGCAGCAG	0.547													10	83					0	0	1	0	0	T	7360370	C	T	7360370	3	4	170	1	0	0	0	0	1	0	0	0	11796	797	28	3	1165	3	PEX5	12	7360370	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		7360370	126491525	10	2925											
IQCH	64799	broad.mit.edu	37	15	67677304	67677304	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr15:67677304C>T	ENST00000335894.4	+	11	1469	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	468										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAACATATTGCCGATTTCAAC	0.408													4	170					0	0	1	0	0	T	67677304	C	T	67677304	3	4	170	1	0	0	0	0	1	0	0	0	7855	739	26	3	1573	3	IQCH	15	67677304	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		67677304	34854088	11	2926											
RFWD3	55159	broad.mit.edu	37	16	74695298	74695298	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr16:74695298G>A	ENST00000361070.4	-	2	147	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	17					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478													4	194					0	0	1	0	0	A	74695298	G	A	74695298	3	1	170	1	0	0	0	0	1	0	0	0	13313	1203	42	3	2322	3	RFWD3	16	74695298	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		74695298	15659455	12	2927											
APC2	10297	broad.mit.edu	37	19	1453055	1453055	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr19:1453055A>G	ENST00000535453.1	+	1	1768	c.55A>G	c.(55-57)Aag>Gag	p.K19E	APC2_ENST00000238483.4_Missense_Mutation_p.K19E|APC2_ENST00000233607.2_Missense_Mutation_p.K19E			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	19					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCTTGAAGGCTGAGAA	0.622													4	5					0	0	1	0	0	G	1453055	A	G	1453055	3	3	170	1	0	0	0	0	1	0	0	0	760	247	9	4	57	4	APC2	19	1453055	Missense_Mutation	SNP	A	TCGA-WB-A81R-01A-11D-A35I-08		1453055	57675928	13	2928											
CSTL1	128817	broad.mit.edu	37	20	23420947	23420947	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:23420947G>A	ENST00000347397.1	+	2	289	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	CSTL1_ENST00000246020.2_Missense_Mutation_p.A15T|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	15						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GCTGCTGATTGCCCTGGTCCT	0.537													17	30					0	0	1	0	0	A	23420947	G	A	23420947	3	1	170	1	0	0	0	0	1	0	0	0	4012	1319	46	3	45	3	CSTL1	20	23420947	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		23420947	39604573	14	2929											
DUSP15	128853	broad.mit.edu	37	20	30436706	30436706	+	Splice_Site	SNP	C	C	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:30436706C>A	ENST00000278979.3	-	9	705	c.628_splice	c.e9-1	p.G210_splice				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	210						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGTGACCATCCTGCAGGTGG	0.577													8	9					5.4927e-09	5.89957e-09	1	1	0	A	30436706	C	A	30436706	5	1	170	1	0	0	0	0	0	0	1	0	4841	870	30	5		5	DUSP15	20	30436706	Splice_Site	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08	7015759	30436706	32588814	15	2930											
FAM83D	81610	broad.mit.edu	37	20	37580459	37580459	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:37580459G>A	ENST00000217429.4	+	4	1185	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	352					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATGCCCGCAGAGGGCAA	0.602													3	37					0	0	1	0	0	A	37580459	G	A	37580459	3	1	170	1	0	0	0	0	1	0	0	0	5668	1087	38	1	1158	1	FAM83D	20	37580459	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	7143753	37580459	25445061	16	2931											
DIDO1	11083	broad.mit.edu	37	20	61511023	61511023	+	Silent	SNP	G	G	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:61511023G>T	ENST00000266070.4	-	16	6610	c.6285C>A	c.(6283-6285)ccC>ccA	p.P2095P	DIDO1_ENST00000395343.1_Silent_p.P2095P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2095					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTTCTCTTTGGGCCCCACGT	0.657													5	191					0.0293803	0.0293803	1	1	0	T	61511023	G	T	61511023	2	4	170	1	0	0	0	0	0	0	0	1	4550	1335	47	5		5	DIDO1	20	61511023	Silent	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	23930564	61511023	1514497	17	2932											
TNRC6B	23112	broad.mit.edu	37	22	40658165	40658165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr22:40658165delG	ENST00000454349.2	+	4	656	c.445delG	c.(445-447)ggfs	p.G149fs	TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.G149fs|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	149					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GAGTGAGAGTGGGACTGCGCC	0.567													2	4	---	---	---	---						-	40658165	G	-	40658165	7	5	170	1	0	1	0	1	0	0	0	0	16401	1348	47	0	580	0	TNRC6B	22	40658165	Frame_Shift_Del	DEL	G	TCGA-WB-A81R-01A-11D-A35I-08		40658165	10646401	18	2933											
TSGA10	80705	broad.mit.edu	37	2	99695278	99695278	+	Splice_Site	SNP	T	T	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr2:99695278T>A	ENST00000393483.3	-	12	1572		c.e12-2		TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000410001.1_Splice_Site	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TAAAGTTATCTATGTATGCAA	0.323													6	29					0	0	1	0	0	A	99695278	T	A	99695278	5	1	171	1	0	0	0	0	0	0	1	0	16678	1536	53	5	1410	5	TSGA10	2	99695278	Splice_Site	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08		99695278	143504095	1	2934											
P4HTM	54681	broad.mit.edu	37	3	49028318	49028318	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr3:49028318G>A	ENST00000343546.4	+	2	775	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Missense_Mutation_p.R136Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	136						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACTTCATCCGAACCCTCAGC	0.642													5	13					0	0	1	0	0	A	49028318	G	A	49028318	3	1	171	1	0	0	0	0	1	0	0	0	11407	1058	37	2	413	2	P4HTM	3	49028318	Missense_Mutation	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		49028318	148994112	2	2935											
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	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	0.632													3	5					0	0	1	0	0	A	60241050	G	A	60241050	1	1	171	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		60241050	120674210	3	2936											
MAP1B	4131	broad.mit.edu	37	5	71492290	71492290	+	Silent	SNP	G	G	A	rs150527364		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr5:71492290G>A	ENST00000296755.7	+	5	3406	c.3108G>A	c.(3106-3108)ccG>ccA	p.P1036P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036						microtubule|microtubule associated complex	structural molecule activity	p.P1036P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATATGAGCCGGAAAAAATGG	0.517													3	50					0	0	1	0	0	A	71492290	G	A	71492290	2	1	171	1	0	0	0	0	0	0	0	1	9278	1103	39	2		2	MAP1B	5	71492290	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08	11251240	71492290	109422970	4	2937											
LAMA4	3910	broad.mit.edu	37	6	112452193	112452193	+	Silent	SNP	G	G	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr6:112452193G>A	ENST00000230538.7	-	29	4342	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	LAMA4_ENST00000522006.1_Silent_p.V1308V|LAMA4_ENST00000389463.4_Silent_p.V1308V|LAMA4_ENST00000424408.2_Silent_p.V1308V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1315	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGAGCTAATGACGAAGTGGG	0.408													5	21					0	0	1	0	0	A	112452193	G	A	112452193	2	1	171	1	0	0	0	0	0	0	0	1	8647	1277	45	3		3	LAMA4	6	112452193	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		112452193	58662874	5	2938											
LPPR1	0	broad.mit.edu	37	9	104075136	104075136	+	Silent	SNP	G	G	T	rs144819698		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:104075136G>T	ENST00000374874.3	+	6	1132	c.693G>T	c.(691-693)ctG>ctT	p.L231L	LPPR1_ENST00000395056.2_Silent_p.L231L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		231						integral to membrane	catalytic activity										AGCCGGTGCTGTGCCTCGGAA	0.562													4	74					0.00909568	0.00909568	1	1	0	T	104075136	G	T	104075136	2	4	171	1	0	0	0	0	0	0	0	1	8969	1364	48	5		5	LPPR1	9	104075136	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		104075136	37138295	6	2939											
MRPS2	51116	broad.mit.edu	37	9	138393756	138393756	+	Missense_Mutation	SNP	T	T	G	rs148092515		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:138393756T>G	ENST00000371785.1	+	4	445	c.236T>G	c.(235-237)tTt>tGt	p.F79C	MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	79					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AAGGAACTGTTTTCCGTGAGA	0.567													12	69					0	0	1	0	0	G	138393756	T	G	138393756	3	3	171	1	0	0	0	0	1	0	0	0	9880	1841	64	5	246	5	MRPS2	9	138393756	Missense_Mutation	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08	34318620	138393756	2819675	7	2940											
BIRC3	330	broad.mit.edu	37	11	102195247	102195247	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:102195247A>G	ENST00000263464.3	+	2	2757	c.7A>G	c.(7-9)Ata>Gta	p.I3V	BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	3					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CATTATGAACATAGTAGAAAA	0.373			T	MALT1	MALT								9	20					0	0	1	0	0	G	102195247	A	G	102195247	3	3	171	1	0	0	0	0	1	0	0	0	1435	217	8	4	9	4	BIRC3	11	102195247	Missense_Mutation	SNP	A	TCGA-WB-A81S-01A-11D-A35I-08		102195247	32811269	8	2941											
STOML3	0	broad.mit.edu	37	13	39544453	39544453	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr13:39544453C>T	ENST00000379631.4	-	5	729	c.385G>A	c.(385-387)Gca>Aca	p.A129T	STOML3_ENST00000423210.1_Missense_Mutation_p.A120T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	129						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTAGCCACTGCTGAGACAGCA	0.458													5	121					0	0	1	0	0	T	39544453	C	T	39544453	3	4	171	1	0	0	0	0	1	0	0	0	15371	797	28	3	502	3	STOML3	13	39544453	Missense_Mutation	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		39544453	75625425	9	2942											
ANPEP	290	broad.mit.edu	37	15	90335438	90335438	+	Silent	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr15:90335438C>T	ENST00000300060.6	-	18	2794	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	827	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGCCCGGAGCTTGTCAGCCT	0.627													14	52					0	0	1	0	0	T	90335438	C	T	90335438	2	4	171	1	0	0	0	0	0	0	0	1	704	796	28	3		3	ANPEP	15	90335438	Silent	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		90335438	12195954	10	2943											
PKD1L2	114780	broad.mit.edu	37	16	81253679	81253679	+	Silent	SNP	C	C	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr16:81253679C>A	ENST00000599697.1	-	1	296	c.297G>T	c.(295-297)acG>acT	p.T99T	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	99	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTACCCTCCGTGGTTCCAT	0.488													11	39					9.05144e-12	1.0444e-11	1	1	0	A	81253679	C	A	81253679	2	1	171	1	0	0	0	0	0	0	0	1	12013	639	23	5		5	PKD1L2	16	81253679	Silent	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		81253679	9101074	11	2944											
GGT6	124975	broad.mit.edu	37	17	4461978	4461978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr17:4461978delC	ENST00000301395.3	-	3	777	c.718delG	c.(718-720)atfs	p.D240fs	GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000574154.1_Frame_Shift_Del_p.D272fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	272					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTAGAGCATCCCCAGCAAGG	0.667													2	4	---	---	---	---						-	4461978	C	-	4461978	7	5	171	1	0	1	0	1	0	0	0	0	6405	855	30	0	671	0	GGT6	17	4461978	Frame_Shift_Del	DEL	C	TCGA-WB-A81S-01A-11D-A35I-08		4461978	76733232	12	2945											
ZNF569	148266	broad.mit.edu	37	19	37904427	37904427	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:37904427C>T	ENST00000316950.6	-	6	1690	c.1133G>A	c.(1132-1134)gGt>gAt	p.G378D	ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D|ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTTTCACCTGTATGAAT	0.368													25	61					0	0	1	0	0	T	37904427	C	T	37904427	3	4	171	1	0	0	0	0	1	0	0	0	18057	507	18	3	931	3	ZNF569	19	37904427	Missense_Mutation	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		37904427	21224556	13	2946											
EML2	24139	broad.mit.edu	37	19	46120071	46120071	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:46120071T>C	ENST00000536630.1	-	17	1942	c.1804A>G	c.(1804-1806)Atc>Gtc	p.I602V	EML2_ENST00000589876.1_Missense_Mutation_p.I455V|EML2_ENST00000245925.3_Missense_Mutation_p.I455V|EML2_ENST00000587152.1_Missense_Mutation_p.I656V	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	455					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCTGTGTGGATAGCCACCAGG	0.632													3	17					0	0	1	0	0	C	46120071	T	C	46120071	3	2	171	1	0	0	0	0	1	0	0	0	5125	1406	49	4	610	4	EML2	19	46120071	Missense_Mutation	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08	8215644	46120071	13008912	14	2947											
EYA3	2140	broad.mit.edu	37	1	28320051	28320051	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr1:28320051T>A	ENST00000373871.3	-	14	1403	c.1163A>T	c.(1162-1164)gAt>gTt	p.D388V	EYA3_ENST00000373863.3_Missense_Mutation_p.D342V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V|EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	388				D -> N (in Ref. 1; CAA71311).	anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACTGAAACCATCTGTTGAGAA	0.428													24	22					0	0	1	0	0	A	28320051	T	A	28320051	3	1	172	1	0	0	0	0	1	0	0	0	5358	1435	50	5	578	5	EYA3	1	28320051	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		28320051	220930570	1	2948											
BZW1	9689	broad.mit.edu	37	2	201686894	201686894	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr2:201686894G>T	ENST00000409600.1	+	12	1708	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	BZW1_ENST00000409226.1_Missense_Mutation_p.G422V|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCTGAAGAAGGTGACTGAATT	0.373													4	18					1.23904e-05	1.27081e-05	1	1	0	T	201686894	G	T	201686894	3	4	172	1	0	0	0	0	1	0	0	0	1581	1261	44	5	1097	5	BZW1	2	201686894	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		201686894	41512479	2	2949											
ZNF148	7707	broad.mit.edu	37	3	125032328	125032328	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr3:125032328G>A	ENST00000360647.4	-	4	642	c.157C>T	c.(157-159)Cct>Tct	p.P53S	ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S|ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	53					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCCTGGTGAGGCATACTTCGA	0.453													4	76					0	0	1	0	0	A	125032328	G	A	125032328	3	1	172	1	0	0	0	0	1	0	0	0	17792	1203	42	3	2251	3	ZNF148	3	125032328	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		125032328	72990102	3	2950											
HSPA1L	0	broad.mit.edu	37	6	31779452	31779452	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:31779452C>T	ENST00000375654.4	-	2	487	c.298G>A	c.(298-300)Gga>Aga	p.G100R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	100					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCTTGCCTCCTTCATTAATC	0.413													4	121					0	0	1	0	0	T	31779452	C	T	31779452	3	4	172	1	0	0	0	0	1	0	0	0	7453	690	24	3	1631	3	HSPA1L	6	31779452	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		31779452	139335615	4	2951											
TFAP2D	83741	broad.mit.edu	37	6	50683256	50683256	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:50683256T>A	ENST00000008391.3	+	2	695	c.467T>A	c.(466-468)aTg>aAg	p.M156K		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	156							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGTATGGAATGCACCCAGAT	0.617													49	53					0	0	1	0	0	A	50683256	T	A	50683256	3	1	172	1	0	0	0	0	1	0	0	0	15850	1464	51	5	473	5	TFAP2D	6	50683256	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	18903804	50683256	120431811	5	2952											
GABRR1	2569	broad.mit.edu	37	6	89926980	89926980	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:89926980G>A	ENST00000435811.1	-	1	516	c.62C>T	c.(61-63)gCc>gTc	p.A21V	GABRR1_ENST00000454853.2_Missense_Mutation_p.A21V|GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	21					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GCTTTCAGTGGCCAAAACCCA	0.463													3	34					0	0	1	0	0	A	89926980	G	A	89926980	3	1	172	1	0	0	0	0	1	0	0	0	6211	1203	42	3	1417	3	GABRR1	6	89926980	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08	39243724	89926980	81188087	6	2953											
MGAM	8972	broad.mit.edu	37	7	141730215	141730215	+	Silent	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr7:141730215T>C	ENST00000475668.2	+	11	1329	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	MGAM_ENST00000549489.2_Silent_p.Y425Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	425	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTCACTTATGATTCAGTGG	0.383													18	17					0	0	1	0	0	C	141730215	T	C	141730215	2	2	172	1	0	0	0	0	0	0	0	1	9591	1471	51	4		4	MGAM	7	141730215	Silent	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		141730215	17408448	7	2954											
USP17L2	377630	broad.mit.edu	37	8	11995945	11995945	+	Silent	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:11995945G>A	ENST00000333796.3	-	1	641	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	109					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCCCGGGACAGCATGTAGTTG	0.567													17	41					0	0	1	0	0	A	11995945	G	A	11995945	2	1	172	1	0	0	0	0	0	0	0	1	17108	962	34	3		3	USP17L2	8	11995945	Silent	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		11995945	134368077	8	2955											
VPS37A	137492	broad.mit.edu	37	8	17123483	17123483	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:17123483A>G	ENST00000324849.4	+	2	867	c.193A>G	c.(193-195)Att>Gtt	p.I65V	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	65					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GACAATTAACATTAATATGTG	0.284													10	72					0	0	1	0	0	G	17123483	A	G	17123483	3	3	172	1	0	0	0	0	1	0	0	0	17265	217	8	4	199	4	VPS37A	8	17123483	Missense_Mutation	SNP	A	TCGA-WB-A81T-01A-11D-A35I-08	5127538	17123483	129240539	9	2956											
TPM2	7169	broad.mit.edu	37	9	35683161	35683161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:35683161delG	ENST00000360958.2	-	9	954	c.850delC	c.(850-852)tcfs	p.L284fs	TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378292.3_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	284					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCTCAGAGGGAGGTGATG	0.577													2	4	---	---	---	---						-	35683161	G	-	35683161	7	5	172	1	0	1	0	1	0	0	0	0	16467	1000	35	0	95	0	TPM2	9	35683161	Frame_Shift_Del	DEL	G	TCGA-WB-A81T-01A-11D-A35I-08		35683161	105530270	10	2957											
DAB2IP	153090	broad.mit.edu	37	9	124530814	124530814	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:124530814C>T	ENST00000408936.3	+	10	1983	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F|DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	601					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCGAGACCCTCTCCAATAC	0.597													68	33					0	0	1	0	0	T	124530814	C	T	124530814	3	4	172	1	0	0	0	0	1	0	0	0	4243	681	24	3	1755	3	DAB2IP	9	124530814	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08	88847653	124530814	16682617	11	2958											
ANK3	288	broad.mit.edu	37	10	61829127	61829127	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:61829127G>A	ENST00000280772.1	-	37	11703	c.11512C>T	c.(11512-11514)Cac>Tac	p.H3838Y	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3838					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACACAGTGTCCTTGTAGT	0.398													55	138					0	0	1	0	0	A	61829127	G	A	61829127	3	1	172	1	0	0	0	0	1	0	0	0	618	1377	48	3	1962	3	ANK3	10	61829127	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		61829127	73705620	12	2959											
ANK3	288	broad.mit.edu	37	10	62039370	62039370	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:62039370C>T	ENST00000280772.1	-	2	333	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ANK3_ENST00000503366.1_Missense_Mutation_p.A31T|ANK3_ENST00000373827.2_Missense_Mutation_p.A42T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	48					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCGAGCTGCTCTTAAGTAA	0.343													37	71					0	0	1	0	0	T	62039370	C	T	62039370	3	4	172	1	0	0	0	0	1	0	0	0	618	797	28	3	13492	3	ANK3	10	62039370	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08	210243	62039370	73495377	13	2960											
IDE	3416	broad.mit.edu	37	10	94223489	94223489	+	Splice_Site	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:94223489T>A	ENST00000265986.6	-	21	2816	c.2761_splice	c.e21+1	p.R920_splice	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365_splice	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	920					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTACCTTACCTCTGTCAAAAT	0.373													9	110					0	0	1	0	0	A	94223489	T	A	94223489	5	1	172	1	0	0	0	0	0	0	1	0	7537	1565	54	5	319	5	IDE	10	94223489	Splice_Site	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	32184119	94223489	41311258	14	2961											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			21	28					0	0	1	0	0	C	533874	T	C	533874	3	2	172	1	0	0	0	0	1	0	0	0	7389	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		533874	134472642	15	2962											
RAB6A	5870	broad.mit.edu	37	11	73388973	73388973	+	Silent	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:73388973T>C	ENST00000310653.6	-	8	1098	c.597A>G	c.(595-597)caA>caG	p.Q199Q	RAB6A_ENST00000336083.3_Silent_p.Q199Q|RAB6A_ENST00000536566.1_Silent_p.Q166Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	199					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						CACTGACTGGTTGCTCCTGAG	0.418													4	77					0	0	1	0	0	C	73388973	T	C	73388973	2	2	172	1	0	0	0	0	0	0	0	1	13003	1722	60	4		4	RAB6A	11	73388973	Silent	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	72855099	73388973	61617543	16	2963											
STAC3	246329	broad.mit.edu	37	12	57642487	57642487	+	Splice_Site	SNP	A	A	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr12:57642487A>C	ENST00000332782.2	-	4	634		c.e4+1		STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3						intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CAGCCTACTCACGATCTTGCC	0.542													9	405					0	0	1	0	0	C	57642487	A	C	57642487	5	2	172	1	0	0	0	0	0	0	1	0	15297	173	6	5	696	5	STAC3	12	57642487	Splice_Site	SNP	A	TCGA-WB-A81T-01A-11D-A35I-08		57642487	76209408	17	2964											
C14orf159	80017	broad.mit.edu	37	14	91639743	91639743	+	Silent	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr14:91639743C>T	ENST00000518868.1	+	9	1257	c.567C>T	c.(565-567)ctC>ctT	p.L189L	C14orf159_ENST00000523771.1_Silent_p.L184L|C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000521077.2_Silent_p.L189L|C14orf159_ENST00000520328.1_Silent_p.L184L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	184						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCTGCTCCCTCGGAGGTGAGC	0.612											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	21					0	0	1	0	0	T	91639743	C	T	91639743	2	4	172	1	0	0	0	0	0	0	0	1	1761	871	31	2		2	C14orf159	14	91639743	Silent	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		91639743	15709797	18	2965											
CLEC18B	497190	broad.mit.edu	37	16	74443772	74443772	+	Missense_Mutation	SNP	C	C	T	rs139908030	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr16:74443772C>T	ENST00000339953.5	-	11	1337	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	406	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGCCACACCAGCCTGTGG	0.627													4	38					0	0	1	0	0	T	74443772	C	T	74443772	3	4	172	1	0	0	0	0	1	0	0	0	3526	507	18	3	163	3	CLEC18B	16	74443772	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		74443772	15910981	19	2966											
TMEM98	26022	broad.mit.edu	37	17	31260234	31260234	+	Silent	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr17:31260234G>A	ENST00000579849.1	+	4	605	c.174G>A	c.(172-174)gaG>gaA	p.E58E	TMEM98_ENST00000394642.3_Silent_p.E58E|TMEM98_ENST00000578289.1_Silent_p.E58E	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	58						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCCAGTCTGAGCCCTCTGAGT	0.532													17	33					0	0	1	0	0	A	31260234	G	A	31260234	2	1	172	1	0	0	0	0	0	0	0	1	16285	962	34	3		3	TMEM98	17	31260234	Silent	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		31260234	49934976	20	2967											
UBXN6	80700	broad.mit.edu	37	19	4446365	4446365	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr19:4446365C>A	ENST00000301281.6	-	9	1090	c.966G>T	c.(964-966)atG>atT	p.M322I	UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	322						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTTCTCCCGCATGGCCTTGG	0.711													3	6					6.4e-05	6.4e-05	1	1	0	A	4446365	C	A	4446365	3	1	172	1	0	0	0	0	1	0	0	0	16977	710	25	5	371	5	UBXN6	19	4446365	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		4446365	54682618	21	2968											
VSIG4	11326	broad.mit.edu	37	X	65253674	65253674	+	Splice_Site	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chrX:65253674T>C	ENST00000455586.2	-	2	182		c.e2-2		VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000374737.4_Splice_Site	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGACGGCCTGAAGAGGCGG	0.512													10	8					0	0	1	0	0	C	65253674	T	C	65253674	5	2	172	1	0	0	0	0	0	0	1	0	17285	1594	55	4	1177	4	VSIG4	23	65253674	Splice_Site	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		65253674	90016886	22	2969											
PAPPA2	60676	broad.mit.edu	37	1	176675578	176675578	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:176675578A>G	ENST00000367662.3	+	10	4613	c.3449A>G	c.(3448-3450)aAc>aGc	p.N1150S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1150					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGGTTTCAACTGTGTAGGT	0.423													8	10					0	0	1	0	0	G	176675578	A	G	176675578	3	3	173	1	0	0	0	0	1	0	0	0	11480	43	2	4	3536	4	PAPPA2	1	176675578	Missense_Mutation	SNP	A	TCGA-WB-A81V-01A-11D-A35I-08		176675578	72575043	1	2970											
KDM5B	10765	broad.mit.edu	37	1	202700150	202700150	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:202700150G>A	ENST00000367265.3	-	25	5227	c.4063C>T	c.(4063-4065)Ctg>Ttg	p.L1355L	KDM5B_ENST00000367264.2_Silent_p.L1391L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1355					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCTGGAGCAGCTGGGCTTCC	0.448													3	39					0	0	1	0	0	A	202700150	G	A	202700150	2	1	173	1	0	0	0	0	0	0	0	1	8177	962	34	3		3	KDM5B	1	202700150	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08	26024572	202700150	46550471	2	2971											
MARCH4	57574	broad.mit.edu	37	2	217124370	217124370	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr2:217124370G>A	ENST00000273067.4	-	4	2664	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTAAAGATGCGGTACACCGAG	0.537													11	18					0	0	1	0	0	A	217124370	G	A	217124370	3	1	173	1	0	0	0	0	1	0	0	0	9353	1116	39	2	338	2	MARCH4	2	217124370	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		217124370	26075003	3	2972											
ANKRD28	23243	broad.mit.edu	37	3	15755112	15755113	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr3:15755112_15755113insT	ENST00000399451.2	-	10	1388_1389	c.1021_1022insA	c.(1021-1023)cccfs	p.P341fs	ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.P374fs|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	341						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTGCAAAGGGGTATTTCCATTC	0.441													16	111	---	---	---	---						T	15755113	-	T	15755112	7	5	173	1	0	1	1	0	0	0	0	0	652	1261	44	0	2215	0	ANKRD28	3	15755112	Frame_Shift_Ins	INS	-	TCGA-WB-A81V-01A-11D-A35I-08		15755112	182267318	4	2973											
ZNF79	7633	broad.mit.edu	37	9	130197489	130197489	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:130197489C>T	ENST00000342483.5	+	3	632	c.226C>T	c.(226-228)Cta>Tta	p.L76L	ZNF79_ENST00000543471.1_Silent_p.L52L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGCCTTGTCCTACTAGGTAA	0.478													4	32					0	0	1	0	0	T	130197489	C	T	130197489	2	4	173	1	0	0	0	0	0	0	0	1	18210	680	24	3		3	ZNF79	9	130197489	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08		130197489	11015942	5	2974											
OR52M1	119772	broad.mit.edu	37	11	4567013	4567013	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr11:4567013A>G	ENST00000360213.1	+	1	593	c.593A>G	c.(592-594)aAt>aGt	p.N198S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGTCAATAATGTCTAT	0.512													6	88					0	0	1	0	0	G	4567013	A	G	4567013	3	3	173	1	0	0	0	0	1	0	0	0	11174	101	4	4	595	4	OR52M1	11	4567013	Missense_Mutation	SNP	A	TCGA-WB-A81V-01A-11D-A35I-08		4567013	130439503	6	2975											
ARID2	196528	broad.mit.edu	37	12	46245245	46245245	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:46245245G>A	ENST00000334344.6	+	15	3511	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000422737.1_Silent_p.G964G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1113	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGTGCAGGGGCAAACTCCAG	0.542			"N, S, F"		hepatocellular carcinoma								3	51					0	0	1	0	0	A	46245245	G	A	46245245	2	1	173	1	0	0	0	0	0	0	0	1	912	1190	42	3		3	ARID2	12	46245245	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		46245245	87606650	7	2976											
NF1	4763	broad.mit.edu	37	17	29576062	29576077	+	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	GTTCTTCCATGCCATC	-			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29576062_29576077delGTTCTTCCATGCCATC	ENST00000358273.4	+	30	4418_4433	c.4035_4050delGTTCTTCCATGCCATC	c.(4033-4050)aafs	p.KFFHAI1345fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1345	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT	0.384			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	83	---	---	---	---						-	29576077	GTTCTTCCATGCCATC	-	29576062	7	5	173	1	0	1	0	1	0	0	0	0	10403	1020	36	0	4214	0	NF1	17	29576062	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	TCGA-WB-A81V-01A-11D-A35I-08		29576062	51619148	8	2977											
NF1	4763	broad.mit.edu	37	17	29657338	29657338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29657338T>A	ENST00000358273.4	+	39	6017	c.5634T>A	c.(5632-5634)tgT>tgA	p.C1878*	NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1878					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTTCTGTGTGCCTTAACTT	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	33					0	0	1	0	0	A	29657338	T	A	29657338	4	1	173	1	0	0	0	0	0	1	0	0	10403	1702	59	5	5849	5	NF1	17	29657338	Nonsense_Mutation	SNP	T	TCGA-WB-A81V-01A-11D-A35I-08	81276	29657338	51537872	9	2978											
CACNA1G	8913	broad.mit.edu	37	17	48650206	48650206	+	Silent	SNP	C	C	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:48650206C>A	ENST00000352832.5	+	6	1410	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGATCGCCATCTTCCAGG	0.617													12	33					5.50884e-06	5.50884e-06	1	1	0	A	48650206	C	A	48650206	2	1	173	1	0	0	0	0	0	0	0	1	2562	581	21	5		5	CACNA1G	17	48650206	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08	18992868	48650206	32545004	10	2979											
RDH8	50700	broad.mit.edu	37	19	10132233	10132233	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:10132233G>A	ENST00000591589.1	+	6	993	c.804G>A	c.(802-804)tcG>tcA	p.S268S	RDH8_ENST00000171214.1_Silent_p.S248S			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	248					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCATCAGCTCGACTCGACCAC	0.632													3	32					0	0	1	0	0	A	10132233	G	A	10132233	2	1	173	1	0	0	0	0	0	0	0	1	13248	1045	37	2		2	RDH8	19	10132233	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		10132233	48996750	11	2980											
ZNF564	163050	broad.mit.edu	37	19	12638192	12638192	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:12638192T>C	ENST00000339282.7	-	4	926	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCCTAATCATGTGTCTTTGA	0.388													19	92					0	0	1	0	0	C	12638192	T	C	12638192	3	2	173	1	0	0	0	0	1	0	0	0	18052	1464	51	4	935	4	ZNF564	19	12638192	Missense_Mutation	SNP	T	TCGA-WB-A81V-01A-11D-A35I-08	2505959	12638192	46490791	12	2981											
RYR1	6261	broad.mit.edu	37	19	39026679	39026679	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:39026679G>C	ENST00000355481.4	+	81	11675	c.11544G>C	c.(11542-11544)gaG>gaC	p.E3848D	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3853D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3853					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACAAGGCCGAGGGGCTGGGCA	0.577													11	10					0	0	1	0	0	C	39026679	G	C	39026679	3	2	173	1	0	0	0	0	1	0	0	0	13820	991	35	5	11885	5	RYR1	19	39026679	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08	26388487	39026679	20102304	13	2982											
TTLL12	23170	broad.mit.edu	37	22	43567862	43567862	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr22:43567862G>A	ENST00000216129.6	-	11	1601	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	513	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTTCATGACCGTGAAGTGCTT	0.587													3	47					0	0	1	0	0	A	43567862	G	A	43567862	3	1	173	1	0	0	0	0	1	0	0	0	16787	1145	40	1	412	1	TTLL12	22	43567862	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		43567862	7736704	14	2983											
MAGEA6	4105	broad.mit.edu	37	X	151869868	151869868	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:151869868C>T	ENST00000329342.5	+	3	783	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	186	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTCCTACGATGGCCTGC	0.557													4	61					0	0	1	0	0	T	151869868	C	T	151869868	2	4	173	1	0	0	0	0	0	0	0	1	9218	547	19	1		1	MAGEA6	23	151869868	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08		151869868	3400692	15	2984											
PRDM16	63976	broad.mit.edu	37	1	3327970	3327970	+	Silent	SNP	C	C	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr1:3327970C>T	ENST00000378398.3	+	10	1294	c.1212C>T	c.(1210-1212)taC>taT	p.Y404Y	PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000270722.5_Silent_p.Y403Y|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	403					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACAAGTCCTACACGCAGTTCT	0.542			T	EVI1	"MDS, AML"								6	8					0	0	1	0	0	T	3327970	C	T	3327970	2	4	174	1	0	0	0	0	0	0	0	1	12509	489	17	3		3	PRDM16	1	3327970	Silent	SNP	C	TCGA-WB-A81W-01A-11D-A35I-08		3327970	245922651	1	2985											
SATB1	6304	broad.mit.edu	37	3	18391140	18391160	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGTTGCTGT	TGCTGCTGCTGCTGTTGCTGT	-			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT	ENST00000338745.6	-	11	3528_3548	c.1794_1814delACAGCAACAGCAGCAGCAGCA	c.(1792-1815)cag>ca	p.QQQQQQQQ598del	SATB1_ENST00000454909.2_In_Frame_Del_p.QQQQQQQQ598del|SATB1_ENST00000417717.2_In_Frame_Del_p.QQQQQQQQ630del|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	598	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCctgctgctgctgctgctgctgttgctgttgctgctgct	0.597													5	9	---	---	---	---						-	18391160	TGCTGCTGCTGCTGTTGCTGT	-	18391140	7	5	174	1	0	1	0	1	0	0	0	0	13906	1580	55	0	481	0	SATB1	3	18391140	In_Frame_Del	DEL	TGCTGCTGCTGCTGTTGCTGT	TCGA-WB-A81W-01A-11D-A35I-08		18391140	179631290	2	2986											
FGFR4	2264	broad.mit.edu	37	5	176523689	176523689	+	Silent	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176523689G>A	ENST00000292408.4	+	16	2345	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S	FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000393637.1_Silent_p.S660S|FGFR4_ENST00000292410.3_Silent_p.S660S|FGFR4_ENST00000502906.1_Silent_p.S700S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	700	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGCTGTTCTCGCTGCTGCGGG	0.652										TSP Lung(9;0.080)			11	46					0	0	1	0	0	A	176523689	G	A	176523689	2	1	174	1	0	0	0	0	0	0	0	1	5901	1074	38	1		1	FGFR4	5	176523689	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		176523689	4391571	3	2987											
F12	2161	broad.mit.edu	37	5	176833050	176833050	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176833050G>T	ENST00000253496.3	-	3	176	c.128C>A	c.(127-129)aCc>aAc	p.T43N		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	43	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTCCCCGGTGACAGTGAG	0.592									Hereditary Angioedema				18	35					5.35267e-07	6.04333e-07	1	1	0	T	176833050	G	T	176833050	3	4	174	1	0	0	0	0	1	0	0	0	5367	1261	44	5	1767	5	F12	5	176833050	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	309361	176833050	4082210	4	2988											
IQCE	23288	broad.mit.edu	37	7	2644558	2644558	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:2644558G>A	ENST00000402050.2	+	19	1860	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q|IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	559	IQ 1.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCACGCGGACAAAGCTC	0.622													6	10					0	0	1	0	0	A	2644558	G	A	2644558	3	1	174	1	0	0	0	0	1	0	0	0	7850	1116	39	2	1750	2	IQCE	7	2644558	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		2644558	156494105	5	2989											
AKAP9	10142	broad.mit.edu	37	7	91711856	91711856	+	Silent	SNP	T	T	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:91711856T>C	ENST00000359028.2	+	33	8301	c.8076T>C	c.(8074-8076)caT>caC	p.H2692H	AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTATTTCATAGCAATGAAG	0.338			T	BRAF	papillary thyroid								35	63					0	0	1	0	0	C	91711856	T	C	91711856	2	2	174	1	0	0	0	0	0	0	0	1	456	1403	49	4		4	AKAP9	7	91711856	Silent	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08	89067298	91711856	67426807	6	2990											
ZHX2	22882	broad.mit.edu	37	8	123965941	123965941	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr8:123965941T>G	ENST00000314393.4	+	3	3026	c.2191T>G	c.(2191-2193)Tac>Gac	p.Y731D		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	731						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCACAATATTACAAGGACCC	0.527													13	69					0	0	1	0	0	G	123965941	T	G	123965941	3	3	174	1	0	0	0	0	1	0	0	0	17734	1754	61	5	2193	5	ZHX2	8	123965941	Missense_Mutation	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08		123965941	22398081	7	2991											
CACNB2	783	broad.mit.edu	37	10	18828544	18828544	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:18828544G>A	ENST00000396576.2	+	13	2210	c.1709G>A	c.(1708-1710)cGc>cAc	p.R570H	CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R625H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	625					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACAAGCAGCGCAGCCGTCAT	0.547													11	46					0	0	1	0	0	A	18828544	G	A	18828544	3	1	174	1	0	0	0	0	1	0	0	0	2571	1087	38	1	2238	1	CACNB2	10	18828544	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		18828544	116706203	8	2992											
FAM13C	220965	broad.mit.edu	37	10	61083855	61083855	+	Silent	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:61083855A>G	ENST00000373867.3	-	5	552	c.87T>C	c.(85-87)caT>caC	p.H29H	FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000419214.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000277705.6_Silent_p.H112H|FAM13C_ENST00000373868.2_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000435852.2_Silent_p.H112H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	112										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						TGGATACCACATGCTCTGTCT	0.493													5	145					0	0	1	0	0	G	61083855	A	G	61083855	2	3	174	1	0	0	0	0	0	0	0	1	5484	214	8	4		4	FAM13C	10	61083855	Silent	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08	42255311	61083855	74450892	9	2993											
LRRTM3	347731	broad.mit.edu	37	10	68687983	68687983	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:68687983G>C	ENST00000361320.4	+	2	1887	c.1309G>C	c.(1309-1311)Gtt>Ctt	p.V437L	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	437						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CATCCTGCTGGTTATCTACGT	0.567													5	61					0	0	1	0	0	C	68687983	G	C	68687983	3	2	174	1	0	0	0	0	1	0	0	0	9086	1261	44	5	1315	5	LRRTM3	10	68687983	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	7604128	68687983	66846764	10	2994											
FANK1	92565	broad.mit.edu	37	10	127693555	127693555	+	Silent	SNP	G	G	A	rs137911829		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:127693555G>A	ENST00000368695.1	+	7	746	c.624G>A	c.(622-624)ctG>ctA	p.L208L	FANK1_ENST00000368693.1_Silent_p.L214L|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	214						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGCTCTGCACTGGGCTG	0.532													5	76					0	0	1	0	0	A	127693555	G	A	127693555	2	1	174	1	0	0	0	0	0	0	0	1	5705	1306	46	3		3	FANK1	10	127693555	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	59005572	127693555	7841192	11	2995											
USP15	9958	broad.mit.edu	37	12	62749120	62749120	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr12:62749120A>G	ENST00000280377.5	+	8	837	c.779A>G	c.(778-780)aAc>aGc	p.N260S	USP15_ENST00000353364.3_Missense_Mutation_p.N231S|USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	260					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTGTGAAAAACTCAAATTAC	0.333													10	32					0	0	1	0	0	G	62749120	A	G	62749120	3	3	174	1	0	0	0	0	1	0	0	0	17106	43	2	4	718	4	USP15	12	62749120	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08		62749120	71102775	12	2996											
KCNH5	27133	broad.mit.edu	37	14	63246574	63246574	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246574G>A	ENST00000322893.7	-	10	2159	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	631					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCAGTGCCCGGACGTTCGCA	0.453													3	49					0	0	1	0	0	A	63246574	G	A	63246574	3	1	174	1	0	0	0	0	1	0	0	0	8079	1115	39	2	1117	2	KCNH5	14	63246574	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		63246574	44102966	13	2997	20	2									
KCNH5	27133	broad.mit.edu	37	14	63246575	63246575	+	Silent	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246575G>A	ENST00000322893.7	-	10	2158	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	630					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCAGTGCCCGGACGTTCGCAC	0.453													3	48					0	0	1	0	0	A	63246575	G	A	63246575	2	1	174	1	0	0	0	0	0	0	0	1	8079	1161	41	3		3	KCNH5	14	63246575	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	1	63246575	44102965	14	2998	20	2									
COG7	91949	broad.mit.edu	37	16	23400369	23400369	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr16:23400369G>A	ENST00000307149.5	-	17	2370	c.2185C>T	c.(2185-2187)Ccg>Tcg	p.P729S		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	729					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTGCGGGACGGCTGCAGGCCC	0.622													3	43					0	0	1	0	0	A	23400369	G	A	23400369	3	1	174	1	0	0	0	0	1	0	0	0	3686	1203	42	3	131	3	COG7	16	23400369	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		23400369	66954384	15	2999											
YBX2	51087	broad.mit.edu	37	17	7193313	7193313	+	Silent	SNP	C	C	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:7193313C>T	ENST00000007699.5	-	6	885	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	274	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAATCTGGGCGGGGGGACTC	0.627													4	18					0	0	1	0	0	T	7193313	C	T	7193313	2	4	174	1	0	0	0	0	0	0	0	1	17530	755	27	1		1	YBX2	17	7193313	Silent	SNP	C	TCGA-WB-A81W-01A-11D-A35I-08		7193313	74001897	16	3000											
ZNF823	55552	broad.mit.edu	37	19	11833345	11833345	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11833345T>C	ENST00000341191.6	-	4	1157	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCCACATATCTTACATTTATG	0.418										HNSCC(68;0.2)			51	66					0	0	1	0	0	C	11833345	T	C	11833345	3	2	174	1	0	0	0	0	1	0	0	0	18226	1609	56	4	832	4	ZNF823	19	11833345	Missense_Mutation	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08		11833345	47295638	17	3001											
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438													13	29					0	0	1	0	0	A	11917376	G	A	11917376	3	1	174	1	0	0	0	0	1	0	0	0	17999	1087	38	1	610	1	ZNF491	19	11917376	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	84031	11917376	47211607	18	3002											
CSTF1	1477	broad.mit.edu	37	20	54970613	54970613	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:54970613A>T	ENST00000217109.4	+	2	357	c.5A>T	c.(4-6)tAc>tTc	p.Y2F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	2					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCCAAGATGTACAGAACCAAA	0.493													3	28					0	0	1	0	0	T	54970613	A	T	54970613	3	4	174	1	0	0	0	0	1	0	0	0	4008	391	14	5	7	5	CSTF1	20	54970613	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08		54970613	8054907	19	3003											
PRPF6	24148	broad.mit.edu	37	20	62626273	62626273	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:62626273A>G	ENST00000535781.1	+	5	554	c.443A>G	c.(442-444)aAg>aGg	p.K148R	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	148					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TTCCAGAGGAAGTTGGCAGAA	0.517													3	32					0	0	1	0	0	G	62626273	A	G	62626273	3	3	174	1	0	0	0	0	1	0	0	0	12626	72	3	4	461	4	PRPF6	20	62626273	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08	7655660	62626273	399247	20	3004											
BEND5	79656	broad.mit.edu	37	1	49224701	49224701	+	Missense_Mutation	SNP	G	G	A	rs150209705	by1000genomes	TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:49224701G>A	ENST00000371833.3	-	3	702	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	206										large_intestine(5)|lung(2)|skin(1)	8						CTCCGAGTCCGCTCCAGCTCC	0.587													4	69					0	0	1	0	0	A	49224701	G	A	49224701	3	1	175	1	0	0	0	0	1	0	0	0	1399	1086	38	1	665	1	BEND5	1	49224701	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		49224701	200025920	1	3005											
EXTL2	2135	broad.mit.edu	37	1	101339869	101339869	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:101339869A>G	ENST00000370114.3	-	5	2058	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	208					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ACCATAGAGTACTGGTCACCA	0.413													3	46					0	0	1	0	0	G	101339869	A	G	101339869	3	3	175	1	0	0	0	0	1	0	0	0	5354	391	14	4	374	4	EXTL2	1	101339869	Missense_Mutation	SNP	A	TCGA-WB-A820-01A-11D-A35I-08	52115168	101339869	147910752	2	3006											
PTPN14	5784	broad.mit.edu	37	1	214537876	214537876	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:214537876G>C	ENST00000366956.5	-	18	3608	c.3414C>G	c.(3412-3414)atC>atG	p.I1138M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1138	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCAAGCAGTAGATCATCAGCT	0.567													10	46					0	0	1	0	0	C	214537876	G	C	214537876	3	2	175	1	0	0	0	0	1	0	0	0	12833	932	33	5	157	5	PTPN14	1	214537876	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	113198007	214537876	34712745	3	3007											
QPCT	25797	broad.mit.edu	37	2	37594434	37594434	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:37594434G>A	ENST00000338415.3	+	4	764	c.606G>A	c.(604-606)gaG>gaA	p.E202E	QPCT_ENST00000537448.1_Silent_p.E153E	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	202					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATGGTGAAGAGGCTTTTCTTC	0.458													22	73					0	0	1	0	0	A	37594434	G	A	37594434	2	1	175	1	0	0	0	0	0	0	0	1	12926	991	35	3		3	QPCT	2	37594434	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		37594434	205604939	4	3008											
THSD7B	80731	broad.mit.edu	37	2	138413157	138413157	+	Silent	SNP	C	C	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:138413157C>T	ENST00000409968.1	+	22	4210	c.4032C>T	c.(4030-4032)gtC>gtT	p.V1344V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.V1316V|THSD7B_ENST00000272643.3_Silent_p.V1347V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGGACGTGTCGAGGATGCAC	0.537													4	6					0	0	1	0	0	T	138413157	C	T	138413157	2	4	175	1	0	0	0	0	0	0	0	1	15940	871	31	2		2	THSD7B	2	138413157	Silent	SNP	C	TCGA-WB-A820-01A-11D-A35I-08	100818723	138413157	104786216	5	3009											
TTN	7273	broad.mit.edu	37	2	179495667	179495667	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:179495667C>A	ENST00000589042.1	-	238	44242	c.44018G>T	c.(44017-44019)cGg>cTg	p.R14673L	TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13032	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATTTCCCGATCTAGAAA	0.473													3	28					0.115264	0.115264	1	1	0	A	179495667	C	A	179495667	3	1	175	1	0	0	0	0	1	0	0	0	16797	652	23	5	64175	5	TTN	2	179495667	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08	41082510	179495667	63703706	6	3010											
TATDN2	9797	broad.mit.edu	37	3	10318140	10318140	+	Silent	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr3:10318140A>G	ENST00000287652.4	+	5	2980	c.1929A>G	c.(1927-1929)aaA>aaG	p.K643K	TATDN2_ENST00000448281.2_Silent_p.K643K|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	643						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAATCATGAAAAAGTTTGTGC	0.468													4	79					0	0	1	0	0	G	10318140	A	G	10318140	2	3	175	1	0	0	0	0	0	0	0	1	15649	11	1	4		4	TATDN2	3	10318140	Silent	SNP	A	TCGA-WB-A820-01A-11D-A35I-08		10318140	187704290	7	3011											
KLC4	89953	broad.mit.edu	37	6	43034200	43034200	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:43034200G>A	ENST00000394056.2	+	6	1223	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLC4_ENST00000259708.3_Missense_Mutation_p.R261H|KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	243						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GACCTGGAGCGCACATCAGGC	0.597													3	44					0	0	1	0	0	A	43034200	G	A	43034200	3	1	175	1	0	0	0	0	1	0	0	0	8379	1087	38	1	800	1	KLC4	6	43034200	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		43034200	128080867	8	3012											
SHPRH	257218	broad.mit.edu	37	6	146262866	146262866	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:146262866G>T	ENST00000367503.3	-	10	2781	c.2383C>A	c.(2383-2385)Cta>Ata	p.L795I	SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000367505.2_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	795	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGTTCCGTAGGCGACGCCCA	0.483													5	39					0.014758	0.0158512	1	1	0	T	146262866	G	T	146262866	3	4	175	1	0	0	0	0	1	0	0	0	14346	991	35	5	2796	5	SHPRH	6	146262866	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	103228666	146262866	24852201	9	3013											
RP9	6100	broad.mit.edu	37	7	33136944	33136944	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr7:33136944G>A	ENST00000297157.3	-	4	361	c.344C>T	c.(343-345)aCg>aTg	p.T115M		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	115	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTGTCACCCGTTCGGTGACC	0.378													23	45					0	0	1	0	0	A	33136944	G	A	33136944	3	1	175	1	0	0	0	0	1	0	0	0	13587	1145	40	1	333	1	RP9	7	33136944	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		33136944	126001719	10	3014											
MAN1B1	11253	broad.mit.edu	37	9	140001177	140001177	+	Silent	SNP	C	C	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr9:140001177C>A	ENST00000371589.4	+	10	1555	c.1482C>A	c.(1480-1482)gtC>gtA	p.V494V	MAN1B1_ENST00000474902.1_Silent_p.V197V|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	494					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCGAGGGTGTCAGAACGCACC	0.627													3	23					0.115264	0.115264	1	1	0	A	140001177	C	A	140001177	2	1	175	1	0	0	0	0	0	0	0	1	9262	813	29	5		5	MAN1B1	9	140001177	Silent	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		140001177	1212254	11	3015											
AGAP11	119385	broad.mit.edu	37	10	88769022	88769022	+	RNA	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr10:88769022G>A	ENST00000444431.1	+	0	3622				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAAAACATGCGTGGGAACTCC	0.552													6	211					0	0	1	0	0	A	88769022	G	A	88769022	1	1	175	0	1	0	0	0	0	0	0	0	366	1145	40	1		1	AGAP11	10	88769022	RNA	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		88769022	46765725	12	3016											
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532													4	121					0	0	1	0	0	A	125397415	G	A	125397415	2	1	175	1	0	0	0	0	0	0	0	1	16903	1277	45	3		3	UBC	12	125397415	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		125397415	8454480	13	3017											
LMAN1L	79748	broad.mit.edu	37	15	75113473	75113474	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr15:75113473_75113474delCT	ENST00000309664.5	+	9	1104_1105	c.965_966delCT	c.(964-966)gfs	p.A322fs	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	322						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGCAGGCTCTGCGGGGTC	0.653													2	4	---	---	---	---						-	75113474	CT	-	75113473	7	5	175	1	0	1	0	1	0	0	0	0	8878	797	28	0	999	0	LMAN1L	15	75113473	Frame_Shift_Del	DEL	CT	TCGA-WB-A820-01A-11D-A35I-08		75113473	27417919	14	3018											
PRSS27	83886	broad.mit.edu	37	16	2763562	2763562	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:2763562C>T	ENST00000302641.3	-	5	700	c.646G>A	c.(646-648)Ggc>Agc	p.G216S		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	216	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TCCTCGAAGCCGGCGCACAGC	0.582													5	119					0	0	1	0	0	T	2763562	C	T	2763562	3	4	175	1	0	0	0	0	1	0	0	0	12670	652	23	2	234	2	PRSS27	16	2763562	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		2763562	87591191	15	3019											
PMFBP1	83449	broad.mit.edu	37	16	72188312	72188312	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:72188312T>C	ENST00000537465.1	-	4	370	c.212A>G	c.(211-213)gAa>gGa	p.E71G	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E71G			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	71										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCCAAATTCCACCTCTGA	0.433													4	111					0	0	1	0	0	C	72188312	T	C	72188312	3	2	175	1	0	0	0	0	1	0	0	0	12182	1783	62	4	2943	4	PMFBP1	16	72188312	Missense_Mutation	SNP	T	TCGA-WB-A820-01A-11D-A35I-08	69424750	72188312	18166441	16	3020											
NFIC	4782	broad.mit.edu	37	19	3382111	3382111	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:3382111G>A	ENST00000589123.1	+	2	525	c.405G>A	c.(403-405)gaG>gaA	p.E135E	NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000346156.5_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000443272.2_Silent_p.E144E|NFIC_ENST00000341919.3_Silent_p.E144E|NFIC_ENST00000395111.3_Silent_p.E135E	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	144					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCCCGCTGGAGAGCACCGACG	0.667													28	83					0	0	1	0	0	A	3382111	G	A	3382111	2	1	175	1	0	0	0	0	0	0	0	1	10419	933	33	3		3	NFIC	19	3382111	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		3382111	55746872	17	3021											
DPP9	91039	broad.mit.edu	37	19	4704312	4704312	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:4704312G>A	ENST00000262960.9	-	6	708	c.431C>T	c.(430-432)aCg>aTg	p.T144M	DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000598800.1_Missense_Mutation_p.T115M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	115					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATGGTGGGGCGTGGCCTGGAA	0.647													28	59					0	0	1	0	0	A	4704312	G	A	4704312	3	1	175	1	0	0	0	0	1	0	0	0	4759	1145	40	1	2315	1	DPP9	19	4704312	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	1322201	4704312	54424671	18	3022											
MUC16	94025	broad.mit.edu	37	19	9060544	9060544	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:9060544G>A	ENST00000397910.4	-	3	27105	c.26902C>T	c.(26902-26904)Cca>Tca	p.P8968S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8970	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8968A(2)|p.P4601A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCACTGGAGATGTCACT	0.463													12	110					0	0	1	0	0	A	9060544	G	A	9060544	3	1	175	1	0	0	0	0	1	0	0	0	10021	1174	41	3	16949	3	MUC16	19	9060544	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	4356232	9060544	50068439	19	3023											
U2AF1	7307	broad.mit.edu	37	21	44521486	44521486	+	Translation_Start_Site	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr21:44521486G>A	ENST00000398137.1	-	0	272				U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron	NM_001025204.1	NP_001020375.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						AGTGTGAGCCGTCAGCCGTCT	0.413			Mis		"CLL, MDS"								4	286					0	0	1	0	0	A	44521486	G	A	44521486	1	1	175	1	0	0	0	0	0	0	0	0	16882	1136	40	1		1	U2AF1	21	44521486	Translation_Start_Site	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		44521486	3608409	20	3024											
PVALB	5816	broad.mit.edu	37	22	37211274	37211274	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:37211274C>T	ENST00000216200.5	-	3	122	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PVALB_ENST00000417718.2_Missense_Mutation_p.D23N|PVALB_ENST00000404171.1_5'UTR	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	23							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCGAAGGAGTCGGTAGCTGTG	0.507													11	16					0	0	1	0	0	T	37211274	C	T	37211274	3	4	175	1	0	0	0	0	1	0	0	0	12888	884	31	2	277	2	PVALB	22	37211274	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		37211274	14093292	21	3025											
H1F0	3005	broad.mit.edu	37	22	38201891	38201891	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:38201891A>G	ENST00000340857.2	+	1	778	c.340A>G	c.(340-342)Atc>Gtc	p.I114V		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	114					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAGAAGGAAATCAAGAAGGT	0.572													10	26					0	0	1	0	0	G	38201891	A	G	38201891	3	3	175	1	0	0	0	0	1	0	0	0	6961	101	4	4	342	4	H1F0	22	38201891	Missense_Mutation	SNP	A	TCGA-WB-A820-01A-11D-A35I-08	990617	38201891	13102675	22	3026											
PER3	8863	broad.mit.edu	37	1	7886649	7886649	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:7886649G>A	ENST00000377532.3	+	16	2291	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.A681A			P56645	PER3_HUMAN	period circadian clock 3	681	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTCAGCGCACACCCAGA	0.507													3	39					0	0	1	0	0	A	7886649	G	A	7886649	2	1	176	1	0	0	0	0	0	0	0	1	11778	1074	38	1		1	PER3	1	7886649	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		7886649	241363972	1	3027											
PRAMEF13	400736	broad.mit.edu	37	1	13448307	13448307	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:13448307A>G	ENST00000376132.3	-	4	1270	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	390										breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCATAGACATACAATTT	0.557													13	103					0	0	1	0	0	G	13448307	A	G	13448307	3	3	176	1	0	0	0	0	1	0	0	0	12477	275	10	4	260	4	PRAMEF13	1	13448307	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08	5561658	13448307	235802314	2	3028											
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													4	4	---	---	---	---						-	17720687	G	-	17720687	6	5	176	0	1	1	0	1	0	0	0	0	11428	1015	35	0		0	PADI6	1	17720687	RNA	DEL	G	TCGA-WB-A821-01A-11D-A35I-08	4272380	17720687	231529934	3	3029											
S1PR1	1901	broad.mit.edu	37	1	101705533	101705533	+	Silent	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:101705533C>T	ENST00000305352.6	+	2	1368	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	331					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.C331C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCAAGTGCCCGAGCGGAG	0.562													5	162					0	0	1	0	0	T	101705533	C	T	101705533	2	4	176	1	0	0	0	0	0	0	0	1	13845	747	26	3		3	S1PR1	1	101705533	Silent	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	83984846	101705533	147545088	4	3030											
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													3	27					0	0	1	0	0	A	168510202	G	A	168510202	2	1	176	1	0	0	0	0	0	0	0	1	17484	1219	43	3		3	XCL2	1	168510202	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	66804669	168510202	80740419	5	3031											
FMN2	56776	broad.mit.edu	37	1	240256975	240256975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:240256975delG	ENST00000319653.9	+	1	1796	c.1566delG	c.(1564-1566)aafs	p.K522fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	522					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGCCGCCAAGGCGTCTGGGG	0.731													2	4	---	---	---	---						-	240256975	G	-	240256975	7	5	176	1	0	1	0	1	0	0	0	0	5983	991	35	0	1568	0	FMN2	1	240256975	Frame_Shift_Del	DEL	G	TCGA-WB-A821-01A-11D-A35I-08	71746773	240256975	8993646	6	3032											
EPAS1	2034	broad.mit.edu	37	2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592													45	42					0	0	1	0	0	T	46607400	C	T	46607400	3	4	176	1	0	0	0	0	1	0	0	0	5178	710	25	3	1635	3	EPAS1	2	46607400	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		46607400	196591973	7	3033											
PID1	55022	broad.mit.edu	37	2	229890554	229890554	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:229890554C>A	ENST00000392054.3	-	4	880	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F	PID1_ENST00000409462.1_Missense_Mutation_p.V101F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.V183F	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	183	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCCTGTAGACCCAGGCGAAG	0.602													4	68					0.00909568	0.00973026	1	1	0	A	229890554	C	A	229890554	3	1	176	1	0	0	0	0	1	0	0	0	11930	507	18	5	209	5	PID1	2	229890554	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	183283154	229890554	13308819	8	3034											
FBXW12	285231	broad.mit.edu	37	3	48419816	48419816	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:48419816A>G	ENST00000296438.5	+	6	601	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	139										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTACCATGATCTGGTCAAG	0.458													4	37					0	0	1	0	0	G	48419816	A	G	48419816	3	3	176	1	0	0	0	0	1	0	0	0	5798	333	12	4	470	4	FBXW12	3	48419816	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08		48419816	149602614	9	3035											
ERC2	26059	broad.mit.edu	37	3	56468448	56468448	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:56468448C>G	ENST00000288221.6	-	2	843	c.588G>C	c.(586-588)ttG>ttC	p.L196F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	196						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCTTTCCTCAAGACTCTCT	0.458													21	59					0	0	1	0	0	G	56468448	C	G	56468448	3	3	176	1	0	0	0	0	1	0	0	0	5239	825	29	5	2339	5	ERC2	3	56468448	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	8048632	56468448	141553982	10	3036											
CNTN3	5067	broad.mit.edu	37	3	74383970	74383970	+	Silent	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:74383970C>A	ENST00000263665.6	-	12	1611	c.1584G>T	c.(1582-1584)ctG>ctT	p.L528L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	528	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGATGTCTAACAGCGGGTCAT	0.438													5	65					5.9392e-07	6.83008e-07	1	1	0	A	74383970	C	A	74383970	2	1	176	1	0	0	0	0	0	0	0	1	3665	465	17	5		5	CNTN3	3	74383970	Silent	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	17915522	74383970	123638460	11	3037											
GBA3	57733	broad.mit.edu	37	4	22729264	22729264	+	RNA	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr4:22729264G>A	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTGGACAGTGGTGAGTTATC	0.403													6	185					0	0	1	0	0	A	22729264	G	A	22729264	1	1	176	0	1	0	0	0	0	0	0	0	6308	1363	47	3		3	GBA3	4	22729264	RNA	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		22729264	168425012	12	3038											
GALNTL6	442117	broad.mit.edu	37	4	173942682	173942682	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr4:173942682G>A	ENST00000506823.1	+	12	2201	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	515	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTGCATACCCGGAAATTCTGC	0.483													15	63					0	0	1	0	0	A	173942682	G	A	173942682	3	1	176	1	0	0	0	0	1	0	0	0	6265	1116	39	2	1586	2	GALNTL6	4	173942682	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	151213418	173942682	17211594	13	3039											
DNAH5	1767	broad.mit.edu	37	5	13721122	13721122	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr5:13721122T>C	ENST00000265104.4	-	71	12370	c.12266A>G	c.(12265-12267)cAg>cGg	p.Q4089R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4089	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCCATGGTCTGCTGCAAGAG	0.428									Kartagener syndrome				5	69					0	0	1	0	0	C	13721122	T	C	13721122	3	2	176	1	0	0	0	0	1	0	0	0	4632	1580	55	4	1644	4	DNAH5	5	13721122	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		13721122	167194138	14	3040											
DFNA5	1687	broad.mit.edu	37	7	24784270	24784270	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:24784270G>A	ENST00000342947.3	-	3	740	c.315C>T	c.(313-315)ggC>ggT	p.G105G	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGT	0.557													5	71					0	0	1	0	0	A	24784270	G	A	24784270	2	1	176	1	0	0	0	0	0	0	0	1	4482	1306	46	3		3	DFNA5	7	24784270	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		24784270	134354393	15	3041											
PCLO	27445	broad.mit.edu	37	7	82389988	82389988	+	Silent	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:82389988T>C	ENST00000333891.8	-	24	15592	c.15255A>G	c.(15253-15255)cgA>cgG	p.R5085R		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5008					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAGACTGAATCGAAAAGTTT	0.318													30	32					0	0	1	0	0	C	82389988	T	C	82389988	2	2	176	1	0	0	0	0	0	0	0	1	11630	1422	50	4		4	PCLO	7	82389988	Silent	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	57605718	82389988	76748675	16	3042											
LHFPL3	375612	broad.mit.edu	37	7	103969248	103969248	+	Silent	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	0						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721													3	19					0	0	1	0	0	C	103969248	T	C	103969248	2	2	176	1	0	0	0	0	0	0	0	1	8806	1567	55	4		4	LHFPL3	7	103969248	Silent	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	21579260	103969248	55169415	17	3043											
SLC10A5	347051	broad.mit.edu	37	8	82606174	82606174	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:82606174G>A	ENST00000518568.1	-	1	2235	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	345						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACCCAAAGCAGGAACTAA	0.368													3	43					0	0	1	0	0	A	82606174	G	A	82606174	3	1	176	1	0	0	0	0	1	0	0	0	14432	971	34	3	284	3	SLC10A5	8	82606174	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		82606174	63757848	18	3044											
AZIN1	0	broad.mit.edu	37	8	103855864	103855864	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:103855864T>G	ENST00000337198.5	-	3	1180	c.17A>C	c.(16-18)gAt>gCt	p.D6A	AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	6					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			GTTTGCATCATCAATAAATCC	0.423													11	50					0	0	1	0	0	G	103855864	T	G	103855864	3	3	176	1	0	0	0	0	1	0	0	0	1240	1435	50	5	1369	5	AZIN1	8	103855864	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	21249690	103855864	42508158	19	3045											
GNE	10020	broad.mit.edu	37	9	36249220	36249220	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr9:36249220C>T	ENST00000396594.3	-	2	337	c.226G>A	c.(226-228)Gta>Ata	p.V76I	GNE_ENST00000447283.2_Missense_Mutation_p.V45I|GNE_ENST00000377902.5_Missense_Mutation_p.V45I|GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.V45I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	45					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GAGCCAAGTACCACAACATCA	0.413													7	77					0	0	1	0	0	T	36249220	C	T	36249220	3	4	176	1	0	0	0	0	1	0	0	0	6564	507	18	3	2079	3	GNE	9	36249220	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		36249220	104964211	20	3046											
OIT3	170392	broad.mit.edu	37	10	74673076	74673076	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr10:74673076G>A	ENST00000334011.5	+	6	1019	c.801G>A	c.(799-801)ttG>ttA	p.L267L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	267	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCCCTGTGTTGTGCAAATCAA	0.522													9	173					0	0	1	0	0	A	74673076	G	A	74673076	2	1	176	1	0	0	0	0	0	0	0	1	10897	1368	48	3		3	OIT3	10	74673076	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		74673076	60861671	21	3047											
PARN	5073	broad.mit.edu	37	16	14676088	14676088	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr16:14676088T>C	ENST00000437198.2	-	17	1283	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C|PARN_ENST00000341484.7_Missense_Mutation_p.Y320C	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	381					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTAGGCATCGTAGCCTGCCTC	0.448													12	166					0	0	1	0	0	C	14676088	T	C	14676088	3	2	176	1	0	0	0	0	1	0	0	0	11500	1638	57	4	809	4	PARN	16	14676088	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		14676088	75678665	22	3048											
ALOX12	239	broad.mit.edu	37	17	6902684	6902684	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:6902684G>A	ENST00000251535.6	+	6	759	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	236	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCTCAATGGTGCCAACCCCAT	0.547													4	56					0	0	1	0	0	A	6902684	G	A	6902684	3	1	176	1	0	0	0	0	1	0	0	0	532	1319	46	3	728	3	ALOX12	17	6902684	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		6902684	74292526	23	3049											
RAI1	10743	broad.mit.edu	37	17	17699978	17699978	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:17699978T>G	ENST00000353383.1	+	3	4185	c.3716T>G	c.(3715-3717)cTg>cGg	p.L1239R	RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1239						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCGGAACCTGGTCTTGCGG	0.642													6	26					0	0	1	0	0	G	17699978	T	G	17699978	3	3	176	1	0	0	0	0	1	0	0	0	13059	1580	55	5	3718	5	RAI1	17	17699978	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	10797294	17699978	63495232	24	3050											
PIGS	94005	broad.mit.edu	37	17	26882066	26882066	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:26882066T>C	ENST00000308360.7	-	11	1570	c.1195A>G	c.(1195-1197)Att>Gtt	p.I399V	PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|PIGS_ENST00000395346.2_Missense_Mutation_p.I391V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	399					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCTGAGCAATCCCAAAGAGC	0.542													5	9					0	0	1	0	0	C	26882066	T	C	26882066	3	2	176	1	0	0	0	0	1	0	0	0	11946	1435	50	4	480	4	PIGS	17	26882066	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	9182088	26882066	54313144	25	3051											
GPATCH8	23131	broad.mit.edu	37	17	42501775	42501775	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:42501775T>C	ENST00000434000.1	-	7	482	c.200A>G	c.(199-201)tAt>tGt	p.Y67C	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.Y145C			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	145	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGTTTCTGATATTGCTTATC	0.393													7	70					0	0	1	0	0	C	42501775	T	C	42501775	3	2	176	1	0	0	0	0	1	0	0	0	6634	1406	49	4	4086	4	GPATCH8	17	42501775	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	15619709	42501775	38693435	26	3052											
ITGA3	3675	broad.mit.edu	37	17	48165686	48165686	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:48165686delC	ENST00000320031.8	+	25	3473	c.3143delC	c.(3142-3144)acfs	p.T1048fs	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1048					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGAGGCTGACCGACGACTAC	0.687													2	4	---	---	---	---						-	48165686	C	-	48165686	7	5	176	1	0	1	0	1	0	0	0	0	7921	507	18	0	3241	0	ITGA3	17	48165686	Frame_Shift_Del	DEL	C	TCGA-WB-A821-01A-11D-A35I-08	5663911	48165686	33029524	27	3053											
CEP192	55125	broad.mit.edu	37	18	13116474	13116474	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr18:13116474T>C	ENST00000506447.1	+	43	7468	c.7388T>C	c.(7387-7389)cTg>cCg	p.L2463P	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P|CEP192_ENST00000325971.8_Missense_Mutation_p.L1867P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	2058										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAGTCAATCTGCGAAATAAT	0.413													8	44					0	0	1	0	0	C	13116474	T	C	13116474	3	2	176	1	0	0	0	0	1	0	0	0	3273	1580	55	4	7554	4	CEP192	18	13116474	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		13116474	64960774	28	3054											
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs34295949		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:14694175_14694176insGGA	ENST00000547437.1	+	2	127_128	c.50_51insGGA	c.(49-51)aga>aGGAga	p.17_17R>RR	CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	17						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													7	8	---	---	---	---						GGA	14694176	-	GGA	14694175	7	5	176	1	0	1	1	0	0	0	0	0	3524	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-WB-A821-01A-11D-A35I-08		14694175	44434808	29	3055											
CYTH2	9266	broad.mit.edu	37	19	48976617	48976617	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:48976617A>G	ENST00000427476.1	+	5	716	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CYTH2_ENST00000452733.2_Missense_Mutation_p.N139S	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	139	SEC7.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCGACCTCAATCTGGTGCAG	0.517													4	56					0	0	1	0	0	G	48976617	A	G	48976617	3	3	176	1	0	0	0	0	1	0	0	0	4227	101	4	4	434	4	CYTH2	19	48976617	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08	34282442	48976617	10152366	30	3056											
C20orf96	140680	broad.mit.edu	37	20	257758	257758	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:257758C>T	ENST00000360321.2	-	8	890	c.752G>A	c.(751-753)cGc>cAc	p.R251H	C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H|C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCTTTCTGCGCATCTCACC	0.557													4	234					0	0	1	0	0	T	257758	C	T	257758	3	4	176	1	0	0	0	0	1	0	0	0	2136	768	27	1	355	1	C20orf96	20	257758	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		257758	62767762	31	3057											
TAF4	6874	broad.mit.edu	37	20	60581703	60581703	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60581703C>T	ENST00000252996.3	-	7	2085	c.2086G>A	c.(2086-2088)Gtg>Atg	p.V696M	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	696					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCAGCACCACGGCCGTGAGC	0.716													4	25					0	0	1	0	0	T	60581703	C	T	60581703	3	4	176	1	0	0	0	0	1	0	0	0	15583	536	19	1	1207	1	TAF4	20	60581703	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	60323945	60581703	2443817	32	3058											
LSM14B	149986	broad.mit.edu	37	20	60701439	60701439	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60701439G>T	ENST00000253001.4	+	3	577	c.371G>T	c.(370-372)gGc>gTc	p.G124V	LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V|LSM14B_ENST00000279068.6_Missense_Mutation_p.G124V			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	124					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCCCTACGGCCCGCTGGCG	0.627													8	33					0.00307968	0.00337298	1	1	0	T	60701439	G	T	60701439	3	4	176	1	0	0	0	0	1	0	0	0	9100	1203	42	5	381	5	LSM14B	20	60701439	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	119736	60701439	2324081	33	3059											
MYH9	4627	broad.mit.edu	37	22	36690155	36690155	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr22:36690155T>C	ENST00000216181.5	-	28	4050	c.3820A>G	c.(3820-3822)Aag>Gag	p.K1274E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1274					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGGTGACCTTGTCGGCCAGC	0.657			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				17	29					0	0	1	0	0	C	36690155	T	C	36690155	3	2	176	1	0	0	0	0	1	0	0	0	10090	1821	63	4	2118	4	MYH9	22	36690155	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		36690155	14614411	34	3060											
TAB3	257397	broad.mit.edu	37	X	30873680	30873680	+	Splice_Site	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:30873680C>A	ENST00000378933.1	-	3	280		c.e3-1		TAB3_ENST00000378932.2_Splice_Site|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378930.3_Splice_Site	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3						activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTTGTTATTCTAGGGGAGAA	0.383													3	32					1	1	1	1	0	A	30873680	C	A	30873680	5	1	176	1	0	0	0	0	0	0	1	0	15554	927	32	5	2060	5	TAB3	23	30873680	Splice_Site	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		30873680	124396880	35	3061											
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	38	---	---	---	---						-	72433666	TCC	-	72433664	7	5	176	1	0	1	0	1	0	0	0	0	10205	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-WB-A821-01A-11D-A35I-08	41559984	72433664	82836896	36	3062											
PXDN	7837	broad.mit.edu	37	2	1652159	1652159	+	Silent	SNP	G	G	A			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr2:1652159G>A	ENST00000252804.4	-	17	3443	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1131					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGCTGCGAGGGCACACGCA	0.627													14	22					0	0	1	0	0	A	1652159	G	A	1652159	2	1	177	1	0	0	0	0	0	0	0	1	12899	987	35	3		3	PXDN	2	1652159	Silent	SNP	G	TCGA-WB-A822-01A-11D-A35I-08		1652159	241547214	1	3063											
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													6	46					0	0	1	0	0	T	144826671	C	T	144826671	1	4	177	1	0	0	0	0	0	0	0	0	6952	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-WB-A822-01A-11D-A35I-08		144826671	46327605	2	3064											
ANO5	203859	broad.mit.edu	37	11	22296294	22296294	+	Splice_Site	SNP	G	G	C			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr11:22296294G>C	ENST00000324559.8	+	20	2731		c.e20+1		ANO5_ENST00000532043.1_Splice_Site	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACTTGCAGGTGATTTGTTT	0.343													3	43					0	0	1	0	0	C	22296294	G	C	22296294	5	2	177	1	0	0	0	0	0	0	1	0	694	1275	44	5	2493	5	ANO5	11	22296294	Splice_Site	SNP	G	TCGA-WB-A822-01A-11D-A35I-08		22296294	112710222	3	3065											
SLCO1C1	53919	broad.mit.edu	37	12	20868177	20868177	+	Silent	SNP	C	C	T			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:20868177C>T	ENST00000381552.1	+	6	1002	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	SLCO1C1_ENST00000266509.2_Silent_p.L212L|SLCO1C1_ENST00000545102.1_Silent_p.L94L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.L212L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CATTGCCTACCTGGATGATTT	0.428													4	76					0	0	1	0	0	T	20868177	C	T	20868177	2	4	177	1	0	0	0	0	0	0	0	1	14780	680	24	3		3	SLCO1C1	12	20868177	Silent	SNP	C	TCGA-WB-A822-01A-11D-A35I-08		20868177	112983718	4	3066											
KCNH3	23416	broad.mit.edu	37	12	49937738	49937740	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:49937738_49937740delGGG	ENST00000257981.6	+	6	1124_1126	c.864_866delGGG	c.(862-867)tcc>tc	p.SG288del		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	288					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTCCAAGTCGGGCCAGGTGGTG	0.596													11	56	---	---	---	---						-	49937740	GGG	-	49937738	7	5	177	1	0	1	0	1	0	0	0	0	8077	1103	39	0	886	0	KCNH3	12	49937738	In_Frame_Del	DEL	GGG	TCGA-WB-A822-01A-11D-A35I-08	29069561	49937738	83914157	5	3067											
LIG1	3978	broad.mit.edu	37	19	48639327	48639327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:48639327delG	ENST00000263274.7	-	15	1806	c.1387delC	c.(1387-1389)tcfs	p.L463fs	LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	463					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCTGGGAGAGGGCAGCCAGC	0.692								Nucleotide excision repair (NER)					2	4	---	---	---	---						-	48639327	G	-	48639327	7	5	177	1	0	1	0	1	0	0	0	0	8821	1000	35	0	1428	0	LIG1	19	48639327	Frame_Shift_Del	DEL	G	TCGA-WB-A822-01A-11D-A35I-08		48639327	10489656	6	3068											
KLK13	26085	broad.mit.edu	37	19	51563781	51563781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:51563781G>A	ENST00000595793.1	-	2	190	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	50	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGGGCAGCCTGCCAGGGCTGA	0.597													4	57					0	0	1	0	0	A	51563781	G	A	51563781	4	1	177	1	0	0	0	0	0	1	0	0	8444	1328	46	3	701	3	KLK13	19	51563781	Nonsense_Mutation	SNP	G	TCGA-WB-A822-01A-11D-A35I-08	2924454	51563781	7565202	7	3069											
FCRL3	115352	broad.mit.edu	37	1	157665168	157665168	+	Missense_Mutation	SNP	G	G	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:157665168G>T	ENST00000368184.3	-	8	1653	c.1362C>A	c.(1360-1362)gaC>gaA	p.D454E	FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	454	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCAGGCCATTGTCTGCATCAC	0.532													5	84					0.184627	0.184627	1	1	0	T	157665168	G	T	157665168	3	4	178	1	0	0	0	0	1	0	0	0	5829	1368	48	5	874	5	FCRL3	1	157665168	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		157665168	91585453	1	3070											
FCRL6	343413	broad.mit.edu	37	1	159778167	159778167	+	Silent	SNP	T	T	C			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:159778167T>C	ENST00000321935.6	+	4	359	c.273T>C	c.(271-273)tcT>tcC	p.S91S	FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S|FCRL6_ENST00000368106.3_Silent_p.S84S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	84	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACAGCTGCTCTGGGCAGGTGA	0.498													9	34					0	0	1	0	0	C	159778167	T	C	159778167	2	2	178	1	0	0	0	0	0	0	0	1	5832	1567	55	4		4	FCRL6	1	159778167	Silent	SNP	T	TCGA-XG-A823-01A-11D-A35I-08	2112999	159778167	89472454	2	3071											
TIPARP	25976	broad.mit.edu	37	3	156421292	156421292	+	Missense_Mutation	SNP	G	G	A			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr3:156421292G>A	ENST00000461166.1	+	5	1915	c.1327G>A	c.(1327-1329)Gtc>Atc	p.V443I	TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	443							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCCAGATGGGGTCACTTCAGC	0.448													3	39					0	0	1	0	0	A	156421292	G	A	156421292	3	1	178	1	0	0	0	0	1	0	0	0	15984	1261	44	3	1341	3	TIPARP	3	156421292	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		156421292	41601138	3	3072											
SESN1	27244	broad.mit.edu	37	6	109315808	109315808	+	Missense_Mutation	SNP	C	C	G			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr6:109315808C>G	ENST00000436639.2	-	6	1722	c.977G>C	c.(976-978)aGt>aCt	p.S326T	SESN1_ENST00000302071.2_Missense_Mutation_p.S201T|SESN1_ENST00000356644.7_Missense_Mutation_p.S267T	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	267					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAAAGAATCACTTACCTGAAG	0.343													4	22					0	0	1	0	0	G	109315808	C	G	109315808	3	3	178	1	0	0	0	0	1	0	0	0	14178	565	20	5	698	5	SESN1	6	109315808	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		109315808	61799259	4	3073											
TYW1	55253	broad.mit.edu	37	7	66479502	66479502	+	Missense_Mutation	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr7:66479502C>T	ENST00000359626.5	+	5	688	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGAGATATGCGGTATTTGGC	0.423													4	144					0	0	1	0	0	T	66479502	C	T	66479502	3	4	178	1	0	0	0	0	1	0	0	0	16880	768	27	1	542	1	TYW1	7	66479502	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		66479502	92659161	5	3074											
CDC42BPG	55561	broad.mit.edu	37	11	64594255	64594255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr11:64594255delC	ENST00000342711.5	-	35	4400	c.4401delG	c.(4399-4401)gafs	p.E1467fs		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1467					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCGGCCCTTCTCTTCGGGAG	0.672													2	4	---	---	---	---						-	64594255	C	-	64594255	7	5	178	1	0	1	0	1	0	0	0	0	3096	912	32	0	266	0	CDC42BPG	11	64594255	Frame_Shift_Del	DEL	C	TCGA-XG-A823-01A-11D-A35I-08		64594255	70412261	6	3075											
FEZ1	9638	broad.mit.edu	37	11	125359671	125359671	+	Translation_Start_Site	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr11:125359671C>T	ENST00000278919.3	-	2	237	c.3G>A	c.(1-3)atG>atA	p.M1I	FEZ1_ENST00000524435.1_Start_Codon_SNP_p.M1I|FEZ1_ENST00000366139.3_Start_Codon_SNP_p.M1I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	1					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GTGGGGCCTCCATTCTTGCTC	0.478													10	21					0	0	1	0	0	T	125359671	C	T	125359671	1	4	178	1	0	0	0	0	0	0	0	0	5856	594	21	3		3	FEZ1	11	125359671	Translation_Start_Site	SNP	C	TCGA-XG-A823-01A-11D-A35I-08	60765416	125359671	9646845	7	3076											
OR6C6	283365	broad.mit.edu	37	12	55688981	55688981	+	Silent	SNP	G	G	C			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr12:55688981G>C	ENST00000358433.2	-	1	35	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCAATCCTAGGAGAATGAACT	0.333													6	29					0	0	1	0	0	C	55688981	G	C	55688981	2	2	178	1	0	0	0	0	0	0	0	1	11241	1161	41	5		5	OR6C6	12	55688981	Silent	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		55688981	78162914	8	3077											
FANCM	57697	broad.mit.edu	37	14	45650703	45650703	+	Silent	SNP	A	A	G			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr14:45650703A>G	ENST00000267430.5	+	15	4378	c.4293A>G	c.(4291-4293)aaA>aaG	p.K1431K	FANCM_ENST00000542564.2_Silent_p.K1405K|FANCM_ENST00000555013.1_3'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1431					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAGCAAAAGGAAATGTTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	40					0	0	1	0	0	G	45650703	A	G	45650703	2	3	178	1	0	0	0	0	0	0	0	1	5704	69	3	4		4	FANCM	14	45650703	Silent	SNP	A	TCGA-XG-A823-01A-11D-A35I-08		45650703	61698837	9	3078											
ANKFN1	162282	broad.mit.edu	37	17	54559863	54559863	+	Silent	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:54559863C>T	ENST00000566473.2	+	17	2247	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ANKFN1_ENST00000318698.2_Silent_p.L749L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	749										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTCTTAACCTCCCTCTTCAGA	0.438													21	60					0	0	1	0	0	T	54559863	C	T	54559863	2	4	178	1	0	0	0	0	0	0	0	1	621	842	30	3		3	ANKFN1	17	54559863	Silent	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		54559863	26635347	10	3079											
TTLL8	164714	broad.mit.edu	37	22	50483807	50483807	+	Missense_Mutation	SNP	G	G	A			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr22:50483807G>A	ENST00000266182.6	-	6	519	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCCATGGTGCGCCGGAAGTCT	0.657													3	25					0	0	1	0	0	A	50483807	G	A	50483807	3	1	178	1	0	0	0	0	1	0	0	0	16795	1087	38	1	2019	1	TTLL8	22	50483807	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		50483807	820759	11	3080											
ENOX2	10495	broad.mit.edu	37	X	129759353	129759353	+	Missense_Mutation	SNP	C	C	G			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chrX:129759353C>G	ENST00000338144.3	-	16	2185	c.1768G>C	c.(1768-1770)Gga>Cga	p.G590R	ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370927.1_Missense_Mutation_p.G590R	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	590					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTCCAACTCCAGTCATTTCC	0.483													4	65					0	0	1	0	0	G	129759353	C	G	129759353	3	3	178	1	0	0	0	0	1	0	0	0	5155	603	21	5	68	5	ENOX2	23	129759353	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		129759353	25511207	12	3081											
