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
LRFN2	57497	broad.mit.edu	37	6	40399496	40399496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:40399496G>A	ENST00000338305.6	-	2	1899	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	453	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TACTGCAGCTGGTACATCTTC	0.597000													17	36					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278072	89278072	+	RNA	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:89278072G>A	ENST00000390247.2	-	0	359																											GTCTGTCCCAGACCCACTGCC	0.532000													15	28					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4174811	4174811	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4174811G>A	ENST00000337491.2	-	8	935	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000305232.6_Missense_Mutation_p.R264C|SIRT6_ENST00000381935.3_Missense_Mutation_p.R219C|SIRT6_ENST00000601488.1_3'UTR	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	291	Pro-rich.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGCGGGCGGGGCAGGGGT	0.706000													6	6					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154225261	154225261	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:154225261C>G	ENST00000360256.4	-	3	575	c.375G>C	c.(373-375)tgG>tgC	p.W125C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	125	F5/8 type A 1.|Plastocyanin-like 1.				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)	CAGAAGCTTTCCAGTAGGATA	0.438000													61	101					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4950897	4950897	+	RNA	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4950897G>T	ENST00000592666.1	+	0	2283							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCGAGAAGGGGAAGTCCGGGT	0.642000													29	97					6.00712e-18	8.05237e-18	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314433	54314433	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54314433G>T	ENST00000324134.6	-	3	648	c.480C>A	c.(478-480)ctC>ctA	p.L160L	NLRP12_ENST00000354278.3_Silent_p.L160L|NLRP12_ENST00000391775.3_Silent_p.L160L|NLRP12_ENST00000535162.1_Silent_p.L160L|NLRP12_ENST00000351894.4_Silent_p.L160L|NLRP12_ENST00000391772.1_Silent_p.L160L|NLRP12_ENST00000391773.1_Silent_p.L160L|NLRP12_ENST00000345770.5_Silent_p.L160L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	160					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)		TCACCAGCAGGAGCCGGGTGT	0.617000													39	86					9.14704e-12	1.13838e-11	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54305604	54305604	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:54305604C>T	ENST00000545554.1	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000537900.1_Silent_p.D168D|UNC13C_ENST00000260323.11_Silent_p.D168D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					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)		GCAGCTCTGACGGGGAGCGTA	0.473000													26	48					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167673800	167673800	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:167673800A>G	ENST00000519204.1	+	26	5611	c.5493A>G	c.(5491-5493)atA>atG	p.I1831M	TENM2_ENST00000520394.1_Missense_Mutation_p.I1713M|TENM2_ENST00000545108.1_Missense_Mutation_p.I1951M|TENM2_ENST00000403607.2_Missense_Mutation_p.I1776M|TENM2_ENST00000518659.1_Missense_Mutation_p.I1952M					teneurin transmembrane protein 2																		GTCAGTATATATTTGAGTATG	0.517000													113	290					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054082	177054082	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:177054082C>A	ENST00000331462.4	+	1	776	c.553C>A	c.(553-555)Cca>Aca	p.P185T		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		ATCCCCGGCCCCAGGCACCTA	0.637000													9	29					0.000274275	0.00028616	1	1	0
MED12	9968	broad.mit.edu	37	X	70342150	70342150	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:70342150C>G	ENST00000333646.6	+	8	1401	c.1202C>G	c.(1201-1203)cCg>cGg	p.P401R	MED12_ENST00000374102.1_Missense_Mutation_p.P401R|MED12_ENST00000374080.3_Missense_Mutation_p.P401R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	401					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)					CCTATTGCCCCGTCCAACCTG	0.522000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						84	87					0	0	1	0	0
RGS17	26575	broad.mit.edu	37	6	153345580	153345580	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:153345580C>G	ENST00000367225.2	-	3	285	c.261G>C	c.(259-261)aaG>aaC	p.K87N	RGS17_ENST00000206262.1_Missense_Mutation_p.K87N			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	87	RGS.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CCTTCATCATCTTGTCAAAAT	0.473000													22	48					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6252955	6252955	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:6252955A>G	ENST00000381434.3	+	4	446	c.433A>G	c.(433-435)Ata>Gta	p.I145V	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	145					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAGTTATGAGATATATGTTGA	0.264000													9	15					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106111093	106111093	+	RNA	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106111093G>A	ENST00000390545.2	-	0	34																											GGAGCAGGGCGCCAGGGGGAA	0.687000													11	60					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005420	1005420	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:1005420G>C	ENST00000537687.1	+	24	7190	c.6547G>C	c.(6547-6549)Gag>Cag	p.E2183Q	WNK1_ENST00000315939.6_Missense_Mutation_p.E1923Q|WNK1_ENST00000530271.2_Missense_Mutation_p.E2421Q|WNK1_ENST00000535572.1_Missense_Mutation_p.E1675Q|WNK1_ENST00000340908.4_Missense_Mutation_p.E1516Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1923					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGATGTGCCAGAGAGTGCCCA	0.502000													23	45					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477767	88477767	+	Silent	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:88477767T>C	ENST00000267549.3	+	2	1134	c.576T>C	c.(574-576)taT>taC	p.Y192Y	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	192					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTACAGGCTATGCAATACCTT	0.413000													27	51					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177365	6177365	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:6177365G>T	ENST00000588304.1	+	8	1160	c.714G>T	c.(712-714)aaG>aaT	p.K238N	ACSBG2_ENST00000586696.1_Missense_Mutation_p.K288N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.K288N|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.K288N|ACSBG2_ENST00000588485.1_Missense_Mutation_p.K101N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	288					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCCATAAAGATTGGGGCGC	0.507000													12	45					6.40141e-05	6.78051e-05	1	1	0
TBL3	10607	broad.mit.edu	37	16	2028594	2028594	+	Missense_Mutation	SNP	G	G	C	rs147301648	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:2028594G>C	ENST00000568546.1	+	22	2463	c.2335G>C	c.(2335-2337)Gct>Cct	p.A779P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	779					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCAGGCCGCCGCTTTCTTGGA	0.672000													31	94					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48688839	48688839	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48688839C>G	ENST00000544264.1	-	14	6419	c.6139G>C	c.(6139-6141)Ggt>Cgt	p.G2047R	CELSR3_ENST00000164024.4_Missense_Mutation_p.G2047R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2047	EGF-like 7; calcium-binding.				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)		GGATCAAAACCTTTGTGAACA	0.577000													20	39					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42824523	42824523	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:42824523G>T	ENST00000598766.1	+	13	1200	c.1200G>T	c.(1198-1200)tgG>tgT	p.W400C	TMEM145_ENST00000301204.3_Missense_Mutation_p.W376C			Q8NBT3	TM145_HUMAN	transmembrane protein 145	376						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCCCAAGTGGGCCCGGGAGA	0.577000													36	86					6.50621e-10	7.78755e-10	1	1	0
ADCY5	111	broad.mit.edu	37	3	123023004	123023004	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:123023004G>C	ENST00000462833.1	-	13	3681	c.2469C>G	c.(2467-2469)ctC>ctG	p.L823L	ADCY5_ENST00000309879.5_Silent_p.L473L|ADCY5_ENST00000491190.1_Silent_p.L456L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	823					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCTTCCTGGAGAGGGTCTGCA	0.592000													4	47					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48615932	48615932	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48615932C>T	ENST00000328333.8	-	63	5548	c.5441G>A	c.(5440-5442)cGt>cAt	p.R1814H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1814H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1814	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTTCTCCACGGAGGCCTGG	0.552000													35	50					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356945	42356945	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:42356945C>G	ENST00000554171.1	+	5	3549	c.1117C>G	c.(1117-1119)Cat>Gat	p.H373D	LRFN5_ENST00000298119.4_Missense_Mutation_p.H373D|LRFN5_ENST00000554120.1_Missense_Mutation_p.H373D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	373	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTGGATCTTCATATAATTAA	0.403000										HNSCC(30;0.082)			18	55					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963078	209963078	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:209963078G>C	ENST00000367021.3	-	8	1285	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	IRF6_ENST00000542854.1_Missense_Mutation_p.I276M	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	371					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGCATAAGTAGATCTCAAACG	0.453000										HNSCC(57;0.16)			14	59					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26647123	26647123	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:26647123C>A	ENST00000381340.3	-	39	5749	c.5333G>T	c.(5332-5334)gGc>gTc	p.G1778V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1778					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)					CAAGGCAATGCCGAGGAAAAT	0.373000													11	26					2.61681e-11	3.22466e-11	1	1	0
HIST1H3E	8353	broad.mit.edu	37	6	26225383	26225383	+	Splice_Site	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:26225383A>G	ENST00000360408.1	+	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	1					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CAGATGAACTATGGCGCGTAC	0.517000													37	86					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9517250	9517250	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:9517250G>T	ENST00000019317.4	+	3	875	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	RALBP1_ENST00000383432.3_Missense_Mutation_p.D218Y			Q15311	RBP1_HUMAN	ralA binding protein 1	218	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TGAATGTATAGATTACGTAGA	0.413000													16	37					9.16793e-09	1.06675e-08	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764852	77764852	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:77764852C>A	ENST00000521891.2	+	10	6143	c.5695C>A	c.(5695-5697)Cga>Aga	p.R1899R	ZFHX4_ENST00000050961.6_Silent_p.R1854R|ZFHX4_ENST00000455469.2_Silent_p.R1854R|ZFHX4_ENST00000518282.1_Silent_p.R1873R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1854						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCACCACCCCGAATAGCTTC	0.428000										HNSCC(33;0.089)			11	27					1.33987e-11	1.66091e-11	1	1	0
FANCL	55120	broad.mit.edu	37	2	58425730	58425730	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:58425730T>A	ENST00000402135.3	-	7	575	c.539A>T	c.(538-540)cAg>cTg	p.Q180L	FANCL_ENST00000403295.3_Splice_Site_p.Q180_splice|FANCL_ENST00000403676.1_Splice_Site_p.Q63_splice|FANCL_ENST00000233741.4_Splice_Site_p.Q180_splice|FANCL_ENST00000540646.1_Intron	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	180					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AGAATTTACCTGAGGTGTCCA	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075421	9075421	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:9075421G>A	ENST00000397910.4	-	3	12228	c.12025C>T	c.(12025-12027)Cct>Tct	p.P4009S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4011	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						AAGGAATTAGGCTCTGTTCTA	0.473000													19	69					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27114966	27114966	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:27114966C>A	ENST00000377459.1	+	1	106	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	20					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						ACCCGCTCTTCTCGGGCTGGG	0.617000													16	63					1.3612e-06	1.51622e-06	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:135692925C>A	ENST00000513104.1	-	2	433	c.151G>T	c.(151-153)Gct>Tct	p.A51S	TRPC7_ENST00000426057.2_Missense_Mutation_p.A51S|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607000													28	131					7.01153e-11	8.53934e-11	1	1	0
HOXD12	3238	broad.mit.edu	37	2	176965471	176965471	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:176965471G>A	ENST00000406506.2	+	2	868	c.796G>A	c.(796-798)Gcg>Acg	p.A266T	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	266						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCGGGAGCAGGCGCTGGCGCT	0.592000													8	26					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852178	14852178	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:14852178C>T	ENST00000358984.4	+	36	4058	c.3878C>T	c.(3877-3879)aCt>aTt	p.T1293I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1378										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GACAAACACACTGAACAGCAG	0.368000													6	9					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905688	144905688	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:144905688C>G	ENST00000370490.1	+	1	6000	c.1745C>G	c.(1744-1746)cCa>cGa	p.P582R	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P582R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	582						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACAGCCCAAACTTGTCA	0.473000													16	28					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19427048	19427048	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19427048C>T	ENST00000261537.6	+	16	2619	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	785					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATCCGAATCTCTGCAAAGCAC	0.393000													14	41					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132436980	132436980	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:132436980C>A	ENST00000370828.3	-	9	2110	c.1586G>T	c.(1585-1587)aGt>aTt	p.S529I	GPC4_ENST00000535467.1_Missense_Mutation_p.S459I	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	529					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GACACCAGCACTGTCGGCTTT	0.517000													116	165					9.44819e-66	1.37548e-65	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111146455	111146455	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:111146455A>G	ENST00000485317.1	-	3	1623	c.950T>C	c.(949-951)cTa>cCa	p.L317P	KCNA2_ENST00000440270.1_Missense_Mutation_p.L317P|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.L317P			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	317						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTCTGACCTAGAATCTGGAG	0.488000													8	71					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151819	44151819	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:44151819A>C	ENST00000223357.3	+	17	2421	c.2116A>C	c.(2116-2118)Aac>Cac	p.N706H	AEBP1_ENST00000450684.2_Missense_Mutation_p.N281H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	706	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCGGATCTCAACTCTGTGCT	0.577000													15	78					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81660798	81660798	+	Splice_Site	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:81660798G>C	ENST00000550584.2	-	29	3783	c.3486_splice	c.e29-1	p.A1163_splice	PPFIA2_ENST00000407050.4_Splice_Site_p.A1062_splice|PPFIA2_ENST00000541017.1_Splice_Site_p.A349_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site_p.A1148_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.A1157_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.A1163_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.A1010_splice|PPFIA2_ENST00000541570.2_Splice_Site_p.A699_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.A1142_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.A1058_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.A1151_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1062										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						AATCTGCCTTGCCTGTTGACG	0.353000													7	17					0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33077733	33077733	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:33077733C>T	ENST00000592173.1	-	1	164	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	INO80C_ENST00000334598.7_Missense_Mutation_p.G36S|INO80C_ENST00000441607.2_Missense_Mutation_p.G36S|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.G36S|INO80C_ENST00000590757.1_Missense_Mutation_p.G36S			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	36					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GCGCCATAGCCCCCGCCGCTG	0.622000													6	19					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146758169	146758169	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:146758169A>G	ENST00000369258.4	+	18	2233	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	CHD1L_ENST00000361293.5_Missense_Mutation_p.H457R|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.H534R|CHD1L_ENST00000431239.1_Missense_Mutation_p.H644R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	738	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCATTGTGCACTGCGTAGGT	0.587000													30	112					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34805969	34805969	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:34805969G>C	ENST00000374789.3	-	3	666	c.341C>G	c.(340-342)tCa>tGa	p.S114*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.S114*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S114*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S114*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S114*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S114*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S114*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	114					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)				CTGAAAGGCTGAGACATTGTT	0.488000													27	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597007	179597007	+	Silent	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179597007T>A	ENST00000589042.1	-	57	16913	c.16689A>T	c.(16687-16689)ctA>ctT	p.L5563L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L4319L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L5246L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5246	Ig-like 36.						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)			CTTTGCAGGCTAGCTGGGTGG	0.408000													38	100					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2614034	2614034	+	Nonsense_Mutation	SNP	G	G	A	rs1051347		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:2614034G>A	ENST00000399655.1	+	8	1405	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000406454.3_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	380					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAAGGGACTGGCCCTGGATCT	0.512000													10	14					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160968674	160968674	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:160968674G>A	ENST00000368026.6	-	10	1161	c.887C>T	c.(886-888)tCa>tTa	p.S296L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S247L	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	296					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)			CACCAGGAATGACGAGGTCTG	0.473000													17	57					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	97					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5624484	5624484	+	Translation_Start_Site	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:5624484A>T	ENST00000278302.5	+	0	82				TRIM6_ENST00000380097.3_Missense_Mutation_p.Q9L|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_De_novo_Start_OutOfFrame|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q9L|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGATTCTACAGGCAGGAAAC	0.473000													14	32					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25966854	25966854	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:25966854A>G	ENST00000357085.3	+	3	580	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	TRIM38_ENST00000349458.3_Missense_Mutation_p.Y35C	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	35					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						GGACACAGCTACTGCCACTTG	0.507000													24	46					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64065606	64065606	+	Missense_Mutation	SNP	C	C	G	rs146535799		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64065606C>G	ENST00000539216.1	+	5	1046	c.686C>G	c.(685-687)cCg>cGg	p.P229R	KCNK4_ENST00000422670.2_Missense_Mutation_p.P229R|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000394525.2_Missense_Mutation_p.P229R|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Silent_p.P113P			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	229						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CAGGACTCCCCGGCCTATCAG	0.627000													3	22					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790139	248790139	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248790139C>G	ENST00000330803.2	-	1	352	c.291G>C	c.(289-291)caG>caC	p.Q97H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGAAGATCTGGATGCCAC	0.498000													13	65					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962413	21962413	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:21962413A>T	ENST00000377072.3	+	11	1534	c.1186A>T	c.(1186-1188)Acc>Tcc	p.T396S	MLLT10_ENST00000377059.3_Missense_Mutation_p.T396S|MLLT10_ENST00000307729.7_Missense_Mutation_p.T396S|MLLT10_ENST00000446906.2_Missense_Mutation_p.T396S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	396	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTCATCAGCAACCAAAGATGT	0.458000			T	"""MLL, PICALM, CDK6"""	AL								51	97					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089029	4089029	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:4089029C>A	ENST00000404826.2	+	18	2791	c.2652C>A	c.(2650-2652)acC>acA	p.T884T	SDK1_ENST00000389531.3_Silent_p.T884T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	884	Fibronectin type-III 3.				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)		TGAACTCCACCACCATTCAGT	0.592000													15	49					6.72482e-11	8.20612e-11	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113585814	113585814	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:113585814G>T	ENST00000297405.5	-	24	4202	c.3958C>A	c.(3958-3960)Ctt>Att	p.L1320I	CSMD3_ENST00000343508.3_Missense_Mutation_p.L1280I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1216I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1320I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1320	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACTACTAAGTGTCAGTCCG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	110					1.04121e-07	1.18725e-07	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113208148	113208148	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:113208148C>A	ENST00000401783.2	-	26	4768	c.4432G>T	c.(4432-4434)Gac>Tac	p.D1478Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1455Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1478Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1478	Pentaxin.				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						AAGGTATTGTCGCTGCCGTTA	0.453000													33	72					5.91797e-21	8.2143e-21	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79999663	79999663	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79999663G>T	ENST00000373275.4	-	8	897	c.681C>A	c.(679-681)gaC>gaA	p.D227E		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	227										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						TAACAGCCATGTCAGAAATTT	0.433000													31	92					5.90632e-09	6.89806e-09	1	1	0
APOB	338	broad.mit.edu	37	2	21232560	21232560	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:21232560C>A	ENST00000233242.1	-	26	7307	c.7180G>T	c.(7180-7182)Gtt>Ttt	p.V2394F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2394					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)	ATAAATCCAACCAATTTCTCA	0.308000													6	16					3.59834e-05	3.85053e-05	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96962794	96962794	+	Splice_Site	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:96962794A>T	ENST00000389672.5	+	5	1308		c.e5-1		EPHA6_ENST00000470610.2_Splice_Site	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCTTTTCTCTAGGGCCACCTT	0.368000													6	11					0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118675341	118675341	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:118675341C>G	ENST00000320339.4	-	6	680	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	CXorf56_ENST00000476164.1_Missense_Mutation_p.E186Q|CXorf56_ENST00000536133.1_Missense_Mutation_p.E172Q|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000486230.1_Missense_Mutation_p.E186Q|CXorf56_ENST00000371594.4_Missense_Mutation_p.E186Q	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	186							protein binding			cervix(1)|endometrium(2)|lung(7)	10						AGCTGTTTTTCAATCACTTTG	0.483000													35	73					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638134	12638134	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12638134T>A	ENST00000339282.7	-	4	984	c.788A>T	c.(787-789)gAc>gTc	p.D263V	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						ACTGGGGCGGTCAAAGGCTTT	0.393000													61	67					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53529722	53529722	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:53529722C>G	ENST00000357758.3	-	7	1888	c.1705G>C	c.(1705-1707)Gaa>Caa	p.E569Q	DDHD1_ENST00000395606.1_Missense_Mutation_p.E576Q|DDHD1_ENST00000323669.5_Missense_Mutation_p.E569Q	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	569					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATCCATCGTTCATCAGGCAAC	0.368000													10	101					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907549	12907549	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:12907549C>A	ENST00000317869.6	-	2	819	c.594G>T	c.(592-594)ctG>ctT	p.L198L		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						CCAGGTTTTCCAGGAGAGAAT	0.438000													49	55					8.99859e-20	1.22726e-19	1	1	0
SPAG4	6676	broad.mit.edu	37	20	34208679	34208679	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:34208679A>G	ENST00000374273.3	+	11	1263	c.1151A>G	c.(1150-1152)cAg>cGg	p.Q384R		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	384	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			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)			TCGGAGATTCAGACTTTCCAC	0.512000													59	44					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179100584	179100584	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:179100584C>G	ENST00000502732.1	-	3	456	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	ABL2_ENST00000504405.1_Missense_Mutation_p.E49Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E49Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E70Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E64Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E64Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E70Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E85Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E64Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	85	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCCTGGGGTTCAACATCACAA	0.448000			T	ETV6	AML								13	61					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209308252	209308252	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:209308252A>G	ENST00000272847.2	+	6	902	c.689A>G	c.(688-690)aAa>aGa	p.K230R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	230						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTGTGGACAAATCACAATAT	0.363000													18	54					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183645183	183645183	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:183645183C>G	ENST00000334444.6	-	28	4222	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1285H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1328	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGAAGTTATCCCCATTCTCC	0.488000													7	42					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308803	46308803	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:46308803C>T	ENST00000397850.2	-	15	2337	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	ITGB2_ENST00000355153.4_Missense_Mutation_p.A629T|ITGB2_ENST00000397857.1_Missense_Mutation_p.A629T|ITGB2_ENST00000397854.3_Missense_Mutation_p.A572T|ITGB2_ENST00000302347.5_Missense_Mutation_p.A629T|ITGB2_ENST00000397852.1_Missense_Mutation_p.A629T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	629					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGCACTCGGCGCAGGAGCTG	0.692000													11	18					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994994	140994994	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140994994G>A	ENST00000285879.4	+	4	2090	c.1804G>A	c.(1804-1806)Ggg>Agg	p.G602R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602							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)					CCCTCCTCAGGGGGAGGACTC	0.582000										HNSCC(15;0.026)			132	192					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625381	74625381	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625381C>G	ENST00000156626.7	-	2	743	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ST6GALNAC1_ENST00000590878.1_5'UTR	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	182					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						TGGTGCTTCTCTGACACCGTC	0.577000													56	252					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457355	31457355	+	Translation_Start_Site	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:31457355G>A	ENST00000322054.5	+	0	153				EHD3_ENST00000541626.1_De_novo_Start_InFrame	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3						blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCGGGCCATGGTGCGGCTGA	0.741000													4	6					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292713	102292713	+	RNA	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:102292713G>A	ENST00000561463.1	+	0	759																											ACCTGTACTCGCGTGGGAACA	0.597000													8	22					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75231040	75231040	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:75231040G>A	ENST00000244869.2	+	1	181	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	5					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CCGCGGGGAGGAGGATGGAGA	0.706000													7	21					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203098090	203098090	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:203098090C>T	ENST00000367236.4	+	2	1042	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ADORA1_ENST00000337894.4_Missense_Mutation_p.R41W|ADORA1_ENST00000309502.3_Missense_Mutation_p.R41W|ADORA1_ENST00000367235.1_Missense_Mutation_p.R41W	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	41					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCAGGCGCTGCGGGATGCCAC	0.637000													63	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466434	179466434	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179466434G>A	ENST00000589042.1	-	286	55607	c.55383C>T	c.(55381-55383)gcC>gcT	p.A18461A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A9521A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A9396A|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.A15893A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.A9588A|TTN_ENST00000591111.1_Silent_p.A16820A|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16820	Ig-like 106.						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)			CTTTATTCTTGGCTGTGATGC	0.353000													15	58					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35940839	35940839	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:35940839T>A	ENST00000599180.1	+	2	303	c.223T>A	c.(223-225)Tgg>Agg	p.W75R	FFAR2_ENST00000246549.2_Missense_Mutation_p.W75R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	75						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)			GAACTTCCGCTGGTACCTGCC	0.617000													7	26					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625281	74625281	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625281C>G	ENST00000156626.7	-	2	843	c.644G>C	c.(643-645)aGa>aCa	p.R215T	ST6GALNAC1_ENST00000590878.1_5'UTR	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	215					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						TCCTTTCTGTCTCGTCCTTGT	0.577000													30	118					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200246504	200246504	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:200246504C>A	ENST00000443023.1	-	3	1674	c.209G>T	c.(208-210)aGt>aTt	p.S70I	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Missense_Mutation_p.S129I|SATB2_ENST00000417098.1_Missense_Mutation_p.S129I|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.S129I			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	129						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCACATAACTGAGGGGGAG	0.438000													21	35					7.41877e-09	8.64833e-09	1	1	0
GGH	8836	broad.mit.edu	37	8	63938856	63938856	+	Splice_Site	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:63938856C>G	ENST00000260118.6	-	5	763		c.e5-1		GGH_ENST00000518113.1_Splice_Site	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)						glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CATCAAAACTCTTTGCAAGTG	0.368000													11	32					0	0	1	0	0
SCO2	9997	broad.mit.edu	37	22	50962711	50962711	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962711C>T	ENST00000543927.1	-	2	336	c.130G>A	c.(130-132)Gca>Aca	p.A44T	SCO2_ENST00000395693.3_Missense_Mutation_p.A44T|SCO2_ENST00000535425.1_Missense_Mutation_p.A44T|SCO2_ENST00000252785.3_Missense_Mutation_p.A44T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	44					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)		CCTGTCTCTGCAGGGCCCTGC	0.687000													24	56					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2579489	2579489	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:2579489C>A	ENST00000302956.4	+	10	1339	c.1245C>A	c.(1243-1245)ctC>ctA	p.L415L	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000413459.3_Silent_p.L415L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657000													27	89					2.79863e-10	3.38213e-10	1	1	0
SLFN11	91607	broad.mit.edu	37	17	33690816	33690816	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:33690816T>A	ENST00000394566.1	-	4	283	c.11A>T	c.(10-12)aAt>aTt	p.N4I	SLFN11_ENST00000308377.4_Missense_Mutation_p.N4I	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	4						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)		GGGGCACTGATTTGCCTCCAT	0.378000													15	56					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102461	155102461	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:155102461G>T	ENST00000392825.3	+	7	1390	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.D275Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	275						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						AAGAGAAATGGACAGGAGGAA	0.373000													10	39					1.08611e-07	1.22948e-07	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7663202	7663202	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:7663202C>A	ENST00000572933.1	+	17	4191	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T	DNAH2_ENST00000389173.2_Missense_Mutation_p.P911T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	911	Stem (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)				CTGCCACCTCCCTGACATTCT	0.537000													82	140					7.83748e-43	1.13834e-42	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135012524	135012524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:135012524G>T	ENST00000304613.3	+	14	2533	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	KNDC1_ENST00000368571.2_Nonsense_Mutation_p.E773*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.E838*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	838	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGGCCACCGAGCGCCCGGG	0.751000													6	3					8.12818e-05	8.56607e-05	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140395161	140395161	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:140395161G>C	ENST00000406427.1	-	16	2075	c.1739C>G	c.(1738-1740)tCc>tGc	p.S580C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S161C|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S555C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	555					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGGGCCTTGGAGATGGACAG	0.697000													5	30					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654498	38654498	+	RNA	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:38654498C>A	ENST00000494540.1	+	0	665					NR_003086.1																						CCCTACAGCTCTTCCAAATAT	0.488000													13	27					0.000151284	0.000159167	1	1	0
ZNF514	84874	broad.mit.edu	37	2	95818878	95818878	+	Splice_Site	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:95818878C>A	ENST00000295208.2	-	3	583	c.121_splice	c.e3+1	p.G41_splice	ZNF514_ENST00000411425.1_Splice_Site_p.G41_splice	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTGTGCTCACCCAGAATGGCC	0.547000													29	58					8.88839e-20	1.21488e-19	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52662995	52662995	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:52662995T>C	ENST00000356770.4	-	11	1264	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	PBRM1_ENST00000410007.1_Missense_Mutation_p.N453S|PBRM1_ENST00000296302.7_Missense_Mutation_p.N453S|PBRM1_ENST00000409767.1_Missense_Mutation_p.N453S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N453S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N453S|PBRM1_ENST00000337303.4_Missense_Mutation_p.N453S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N453S			Q86U86	PB1_HUMAN	polybromo 1	453	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAACATTAAATTCAGATCACA	0.328000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								21	18					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343829	134343829	+	Splice_Site	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:134343829G>A	ENST00000282611.6	+	4	761	c.675_splice	c.e4+1	p.T225_splice		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	225					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTGGCCACGGTACTGTGTT	0.562000													17	39					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809695	31809695	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:31809695A>C	ENST00000446923.2	+	7	1775	c.1384A>C	c.(1384-1386)Agt>Cgt	p.S462R	ZEB1_ENST00000320985.10_Missense_Mutation_p.S478R|ZEB1_ENST00000361642.5_Missense_Mutation_p.S479R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.S411R|ZEB1_ENST00000560721.2_Missense_Mutation_p.S458R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	478					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)				CATCAACTACAGTCTTGAGCA	0.378000													17	52					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337111	162337111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:162337111G>T	ENST00000493151.1	+	2	2857	c.490G>T	c.(490-492)Gag>Tag	p.E164*	NOS1AP_ENST00000361897.5_Nonsense_Mutation_p.E459*|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E454*	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	459	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAAGTTCCGAGAGTCAGGCAT	0.662000													9	36					5.4927e-09	6.42698e-09	1	1	0
SLC37A1	54020	broad.mit.edu	37	21	43974185	43974185	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:43974185A>T	ENST00000352133.2	+	10	1764	c.782A>T	c.(781-783)tAt>tTt	p.Y261F	SLC37A1_ENST00000398341.3_Missense_Mutation_p.Y261F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	261					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCAAAAGGCTATGAGAATGGT	0.383000													5	7					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1062258	1062258	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:1062258G>A	ENST00000263094.6	+	42	5889	c.5658G>A	c.(5656-5658)gaG>gaA	p.E1886E	ABCA7_ENST00000435683.2_Silent_p.E1748E|ABCA7_ENST00000433129.1_Silent_p.E1886E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1886	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CGGGCCGCGAGCACCTGGAGC	0.692000													67	125					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106265	90106265	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90106265T>A	ENST00000405460.2	+	74	15284	c.15188T>A	c.(15187-15189)cTg>cAg	p.L5063Q	GPR98_ENST00000425867.2_Missense_Mutation_p.L724Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5063	Calx-beta 33.				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)		AATGGGGAACTGTTTTTTCAA	0.358000													6	14					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094652	79094652	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:79094652C>T	ENST00000326724.4	-	11	3108	c.3084G>A	c.(3082-3084)ccG>ccA	p.P1028P	AATK_ENST00000417379.1_Silent_p.P925P	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1028				P -> R (in Ref. 4; AAH47378).		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)			GCCCAGTGCTCGGCAGGCCCA	0.706000													3	13					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12825665	12825665	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12825665C>A	ENST00000425528.1	-	10	1217	c.860G>T	c.(859-861)tGc>tTc	p.C287F	TNPO2_ENST00000441499.1_Missense_Mutation_p.C287F|TNPO2_ENST00000450764.2_Missense_Mutation_p.C287F|TNPO2_ENST00000588216.1_Missense_Mutation_p.C287F|TNPO2_ENST00000356861.5_Missense_Mutation_p.C287F|TNPO2_ENST00000592287.1_Missense_Mutation_p.C287F|TNPO2_ENST00000589956.1_Intron			O14787	TNPO2_HUMAN	transportin 2	287					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						GACTTCCTTGCAGATGGGCTG	0.607000													20	86					0.000175454	0.000184286	1	1	0
MRPL19	9801	broad.mit.edu	37	2	75882378	75882378	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:75882378A>G	ENST00000393909.2	+	6	871	c.846A>G	c.(844-846)atA>atG	p.I282M	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.I282M	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	282					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AAGCTGCAATATGGAAGGAAA	0.363000													18	51					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57247237	57247237	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57247237G>C	ENST00000262293.4	+	2	436	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	42										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACCCTCACCAGAAAGGTAAGG	0.388000													10	34					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73625542	73625542	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:73625542G>T	ENST00000544909.1	+	6	1072	c.815G>T	c.(814-816)aGg>aTg	p.R272M	PAAF1_ENST00000535604.1_Missense_Mutation_p.R156M|PAAF1_ENST00000536003.1_Missense_Mutation_p.R254M|PAAF1_ENST00000376384.5_Missense_Mutation_p.R254M|PAAF1_ENST00000310571.3_Missense_Mutation_p.R271M|PAAF1_ENST00000544552.1_Missense_Mutation_p.R254M|PAAF1_ENST00000541951.1_Missense_Mutation_p.R156M			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	271					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CTACAGAGCAGGCAGCTGGCA	0.478000													17	50					4.75885e-15	6.15504e-15	1	1	0
POLE2	5427	broad.mit.edu	37	14	50136312	50136312	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:50136312G>T	ENST00000539565.2	-	5	562	c.344C>A	c.(343-345)aCc>aAc	p.T115N	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.T141N|POLE2_ENST00000216367.5_Missense_Mutation_p.T141N	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	141					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)					ATGCCTGTGGGTCCTCTATAA	0.373000													9	17					0.000274275	0.00028616	1	1	0
RPL7L1	285855	broad.mit.edu	37	6	42851353	42851353	+	Splice_Site	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:42851353G>T	ENST00000493763.1	+	3	587		c.e3+1		RPL7L1_ENST00000424341.2_Splice_Site|RPL7L1_ENST00000304734.5_Splice_Site|RPL7L1_ENST00000397415.3_Splice_Site|RPL7L1_ENST00000602561.1_Splice_Site	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1						translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GCATCGAAAGGTAAGGAACTG	0.468000													6	29					0.0215528	0.0217613	1	1	0
ZSCAN9	7746	broad.mit.edu	37	6	28200832	28200832	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:28200832T>A	ENST00000425468.2	+	5	1379	c.1214T>A	c.(1213-1215)aTt>aAt	p.I405N	ZSCAN9_ENST00000252207.5_Missense_Mutation_p.I354N|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.I354N	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9																		TCATTTCTCATTGAACATCAG	0.493000													7	34					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589904	156589904	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156589904C>T	ENST00000302938.4	-	2	1467	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	458						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGTCCCCCGCTCTCCTG	0.483000													45	133					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111450	7111450	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:7111450C>T	ENST00000306904.5	+	1	1286	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTTACAGCCGGTCAGGCTG	0.657000													5	16					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145161496	145161496	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:145161496G>T	ENST00000558170.2	-	6	1978	c.794C>A	c.(793-795)cCa>cAa	p.P265Q	ZEB2_ENST00000409487.3_Missense_Mutation_p.P265Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.P241Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.P265Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	265						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)		ATCTGTCCCTGGCTTGTGTGT	0.448000													27	76					7.38237e-10	8.81939e-10	1	1	0
USP43	124739	broad.mit.edu	37	17	9596531	9596531	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:9596531C>T	ENST00000570827.2	+	9	1582	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	USP43_ENST00000285199.6_Missense_Mutation_p.H481Y|USP43_ENST00000570475.1_Missense_Mutation_p.H481Y			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	481					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCCCTCTGTCACTGGGCAGT	0.507000													7	15					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066599	48066599	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:48066599G>A	ENST00000403359.3	-	3	473	c.401C>T	c.(400-402)gCa>gTa	p.A134V	FBXO11_ENST00000378314.3_Missense_Mutation_p.A16V|FBXO11_ENST00000316377.4_Missense_Mutation_p.A50V|FBXO11_ENST00000402508.1_Missense_Mutation_p.A50V|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	134					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCACGTTTTGCACGATGACC	0.328000			"""Mis, F, D"""		DLBCL								5	33					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961585	50961585	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961585C>T	ENST00000395701.3	+	19	1761	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	NCAPH2_ENST00000420993.2_Missense_Mutation_p.S556F|NCAPH2_ENST00000299821.11_Missense_Mutation_p.S557F			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	556					chromosome condensation	chromosome|nucleus		p.S556F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		ATGCTGGCCTCCCTGCAGCTG	0.637000													5	26					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62838988	62838988	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:62838988G>T	ENST00000536311.1	+	7	803	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	MYT1_ENST00000328439.1_Missense_Mutation_p.G147C|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	147					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)					CAACCCCATCGGCAGCGCCAC	0.557000													30	158					2.61193e-14	3.33688e-14	1	1	0
APOB	338	broad.mit.edu	37	2	21250809	21250809	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:21250809G>A	ENST00000233242.1	-	14	2085	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	APOB_ENST00000399256.4_Missense_Mutation_p.A653V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	653	Vitellogenin.				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)	TTCTATTTTGGCTGAGGCTGG	0.398000													35	77					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392025	182392025	+	Splice_Site	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:182392025T>A	ENST00000397033.2	+	22	2771	c.2339_splice	c.e22-1	p.F781_splice		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	781					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTTACCAGGTTTGTAAACCC	0.308000													8	23					0	0	1	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040421	23040421	+	RNA	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:23040421C>T	ENST00000390306.2	+	0	148				D86994.1_ENST00000385095.1_RNA																							GCAGCGCTCTCGGGACGTCTC	0.642000													6	6					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196851	6196851	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:6196851G>A	ENST00000262450.3	-	16	2610	c.2511C>T	c.(2509-2511)ggC>ggT	p.G837G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	837	Helicase ATP-binding.				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)		ACTCGATGGAGCCCAGGATGG	0.587000													17	30					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	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	0.577000													3	37					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105569861	105569861	+	Splice_Site	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:105569861C>T	ENST00000258530.3	-	20	2038		c.e20-1		APPL2_ENST00000551662.1_Splice_Site|APPL2_ENST00000539978.2_Splice_Site|APPL2_ENST00000546731.1_Silent_p.Q47Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2						cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATAACATATCTGCAAAAGAC	0.353000													7	18					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59081858	59081858	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:59081858C>T	ENST00000215057.2	-	3	993	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MZF1_ENST00000594234.1_Missense_Mutation_p.E145K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E145K|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E145K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	145					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCCATCTTCTCTGATAGGACC	0.597000													13	15					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26146942	26146942	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:26146942G>T	ENST00000331351.5	+	2	1136	c.744G>T	c.(742-744)atG>atT	p.M248I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	248					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAATGTGATGCCCAAGACTT	0.423000													8	25					3.09899e-07	3.50174e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766302	57766302	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:57766302G>T	ENST00000371030.2	+	1	228	c.228G>T	c.(226-228)ccG>ccT	p.P76P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGCGCCCCGCTAGTGACGG	0.716000													10	9					2.17888e-05	2.3436e-05	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166020403	166020403	+	Splice_Site	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:166020403C>G	ENST00000360093.3	-	7	1094	c.602_splice	c.e7-1	p.A201_splice	SCN3A_ENST00000409101.3_Splice_Site_p.A201_splice|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	201						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGTTACATACCTGCAGAATT	0.373000													14	10					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875357	247875357	+	Missense_Mutation	SNP	C	C	A	rs138204394		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:247875357C>A	ENST00000302084.2	-	1	748	c.701G>T	c.(700-702)cGg>cTg	p.R234L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCTTTGCTCCGGCCACTGGC	0.527000													24	135					5.35356e-11	6.54556e-11	1	1	0
HEATR3	55027	broad.mit.edu	37	16	50118095	50118095	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:50118095G>A	ENST00000299192.7	+	9	1374	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.A309T	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	395							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAAAGTGACGCATTTATGGA	0.502000													22	78					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711648	140711648	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140711648C>A	ENST00000517417.1	+	1	1397	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P466H	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)			GAAAACAACCCCAGAGGAGCC	0.483000													44	129					1.15183e-24	1.60948e-24	1	1	0
PHEX	5251	broad.mit.edu	37	X	22132680	22132680	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:22132680C>G	ENST00000379374.4	+	11	1843	c.1278C>G	c.(1276-1278)taC>taG	p.Y426*	PHEX_ENST00000418858.3_Nonsense_Mutation_p.Y129*|PHEX_ENST00000537599.1_Nonsense_Mutation_p.Y426*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.Y329*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	426					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAGATGTGTACTTCCAGGAAG	0.413000													29	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469993	179469993	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179469993C>T	ENST00000589042.1	-	280	54135	c.53911G>A	c.(53911-53913)Gtt>Att	p.V17971I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9031I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8906I|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15403I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9098I|TTN_ENST00000591111.1_Missense_Mutation_p.V16330I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16330	Fibronectin type-III 30.						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)			TCTCCTCGAACACTCAGACGC	0.418000													8	16					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961103	50961103	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961103C>T	ENST00000395701.3	+	17	1473	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	NCAPH2_ENST00000420993.2_Missense_Mutation_p.A460V|NCAPH2_ENST00000299821.11_Missense_Mutation_p.A461V			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	460					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		TTCCCAGACGCAGTGCCGATG	0.672000													13	36					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625172	74625172	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625172C>T	ENST00000156626.7	-	2	952	c.753G>A	c.(751-753)ctG>ctA	p.L251L	ST6GALNAC1_ENST00000590878.1_5'UTR	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	251					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.L251L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCGGCCTTCAGTCTTTGGT	0.547000													25	88					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917057	65917057	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:65917057G>A	ENST00000261892.6	+	2	926	c.639G>A	c.(637-639)gcG>gcA	p.A213A	SLC24A1_ENST00000339868.6_Silent_p.A213A|SLC24A1_ENST00000546330.1_Silent_p.A213A|SLC24A1_ENST00000544319.2_Silent_p.A213A|SLC24A1_ENST00000537259.1_Silent_p.A213A|SLC24A1_ENST00000399033.4_Silent_p.A213A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	213					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAAGCCATGCGATCACCCCCA	0.458000													10	20					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026449	36026449	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:36026449G>A	ENST00000373243.2	+	3	1080	c.697G>A	c.(697-699)Gag>Aag	p.E233K	NCDN_ENST00000373253.3_Missense_Mutation_p.E216K|NCDN_ENST00000356090.4_Missense_Mutation_p.E233K	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	233					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)				CCAGAAAGCTGAGGATGCCAG	0.652000													6	76					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154679436	154679436	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154679436G>T	ENST00000404039.1	+	23	2691	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S	DPP6_ENST00000332007.3_Missense_Mutation_p.A704S|DPP6_ENST00000427557.1_Missense_Mutation_p.A659S|DPP6_ENST00000377770.3_Missense_Mutation_p.A766S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	766					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A702T(1)		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)			TGACAACAGAGCATACGAGGT	0.577000													73	210					3.82405e-32	5.45297e-32	1	1	0
SCO2	9997	broad.mit.edu	37	22	50962141	50962141	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962141C>T	ENST00000543927.1	-	2	906	c.700G>A	c.(700-702)Gac>Aac	p.D234N	SCO2_ENST00000395693.3_Missense_Mutation_p.D234N|SCO2_ENST00000535425.1_Missense_Mutation_p.D234N|SCO2_ENST00000252785.3_Missense_Mutation_p.D234N	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	234	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)		AAGAGGCCGTCAGGGTTGAGC	0.582000													36	117					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53108627	53108627	+	Splice_Site	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:53108627T>C	ENST00000376352.2	+	9	970		c.e9+2		STXBP4_ENST00000405898.1_Splice_Site|STXBP4_ENST00000434978.2_Splice_Site|STXBP4_ENST00000299341.4_Splice_Site|STXBP4_ENST00000398391.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTTTTGGAGGTAATATTAGGT	0.378000													7	18					0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23340489	23340489	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:23340489G>A	ENST00000466681.1	+	2	441	c.288G>A	c.(286-288)atG>atA	p.M96I	MALSU1_ENST00000479974.1_3'UTR	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	96						mitochondrion											ACATCGATATGATGGTTTCAC	0.408000													41	79					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647926	131647926	+	Missense_Mutation	SNP	G	G	A	rs141478353		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:131647926G>A	ENST00000200652.3	+	2	640	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AC034220.3_ENST00000417795.1_RNA|SLC22A4_ENST00000491257.1_3'UTR	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	156					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CGTGCTCCTCGGCTCCTTCGT	0.587000													31	113					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211293	38211293	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:38211293C>A	ENST00000379705.3	-	11	3538	c.2681G>T	c.(2680-2682)cGg>cTg	p.R894L	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.R721L|TRPC4_ENST00000355779.2_Missense_Mutation_p.R753L|TRPC4_ENST00000379681.3_Missense_Mutation_p.R899L|TRPC4_ENST00000338947.5_Missense_Mutation_p.R721L|TRPC4_ENST00000379673.2_Missense_Mutation_p.R745L|TRPC4_ENST00000447043.1_Missense_Mutation_p.R753L|TRPC4_ENST00000358477.2_Missense_Mutation_p.R810L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	894	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGGTCACCCCGTGAAGCTAA	0.468000													24	34					9.95505e-16	1.30374e-15	1	1	0
HEPH	9843	broad.mit.edu	37	X	65417622	65417622	+	Silent	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:65417622T>A	ENST00000519389.1	+	10	1940	c.1761T>A	c.(1759-1761)gcT>gcA	p.A587A	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Silent_p.A536A|HEPH_ENST00000336279.5_Silent_p.A266A|HEPH_ENST00000374727.3_Silent_p.A536A|HEPH_ENST00000343002.2_Silent_p.A533A			Q9BQS7	HEPH_HUMAN	hephaestin	533	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCTGCTTGTCTCACTT	0.572000													10	56					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4634429	4634429	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:4634429C>T	ENST00000261250.3	-	6	806	c.719G>A	c.(718-720)aGc>aAc	p.S240N	C12orf4_ENST00000545746.1_Missense_Mutation_p.S240N	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	240										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCTAAGGGAGCTGTTGTTGGG	0.313000													14	50					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:24192159G>C	ENST00000303531.7	+	13	1595	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase.				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)	GACACATCAAGATTGCCGATT	0.453000													26	75					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:1961835C>T	ENST00000454677.2	-	2	901	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HS3ST6_ENST00000293937.3_Missense_Mutation_p.R262H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R231H			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	231								p.R231H(2)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667000													35	110					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4280258	4280258	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4280258C>A	ENST00000543264.2	+	1	1661	c.198C>A	c.(196-198)ccC>ccA	p.P66P	SHD_ENST00000599689.1_Silent_p.P66P	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	66										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAACCCCGGAGATGCCA	0.672000													10	31					0.000442599	0.000460245	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	91021068	91021068	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:91021068G>T	ENST00000268182.5	+	26	3400	c.3276G>T	c.(3274-3276)gtG>gtT	p.V1092V	IQGAP1_ENST00000560738.1_Silent_p.V520V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1092	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGACCCTGTGGATATTTACA	0.433000													17	82					1.67942e-08	1.93969e-08	1	1	0
GALNT1	2589	broad.mit.edu	37	18	33271142	33271142	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:33271142A>G	ENST00000269195.5	+	7	1248	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	GALNT1_ENST00000537549.1_Missense_Mutation_p.Y322C	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	382					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AATTTCTTCTATATAATTTCT	0.403000													30	57					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521798	64521798	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:64521798C>A	ENST00000355086.3	+	21	3222	c.2698C>A	c.(2698-2700)Cgt>Agt	p.R900S	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R837S|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R877S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	900					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCTGCAGAACCGTGGCCTCAA	0.632000													29	52					1.12875e-08	1.31094e-08	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10071183	10071183	+	Silent	SNP	C	C	T	rs144662581		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:10071183C>T	ENST00000264828.3	-	67	5227	c.5142G>A	c.(5140-5142)gcG>gcA	p.A1714A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1714	Fibrillar collagen NC1.				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)			GCAGAAATCCCGCTCGAGAAG	0.567000													24	91					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95660293	95660293	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:95660293A>G	ENST00000436874.1	+	5	700	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.K151E	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	199						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GACCCTAAAAAAATACAGCGT	0.418000													40	120					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394033	204394033	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:204394033G>C	ENST00000367187.3	-	34	5408	c.4852C>G	c.(4852-4854)Cag>Gag	p.Q1618E	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Q1590E	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1618					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCTTCTCCTGAGCCAGGTCC	0.642000													12	42					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107796	131107796	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:131107796G>A	ENST00000300456.3	+	3	641	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	175					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						TCGCGCGCACGGGCCCTTGTC	0.642000													5	8					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246192	33246192	+	Missense_Mutation	SNP	C	C	G	rs141217533	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:33246192C>G	ENST00000451237.1	+	1	1276	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	332					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGACGTCCCACAGGCTGGACC	0.627000													33	93					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767628	150767628	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:150767628G>C	ENST00000485713.1	+	11	2574	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	SLC4A2_ENST00000392826.2_Missense_Mutation_p.E503Q|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E430Q|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E498Q|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E512Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	512					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)		GAAGATTCCTGAGAATGCCGA	0.617000													5	27					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245351	84245351	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:84245351T>A	ENST00000324537.5	+	9	998	c.506T>A	c.(505-507)cTg>cAg	p.L169Q	SH3GL3_ENST00000535412.1_Missense_Mutation_p.L161Q|SH3GL3_ENST00000427482.2_Missense_Mutation_p.L161Q|SH3GL3_ENST00000434347.1_Missense_Mutation_p.L169Q			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	161	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CTGAAAAAGCTGGAAGGCCGC	0.393000													16	42					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380683	56380683	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:56380683G>T	ENST00000526538.1	-	1	295	c.296C>A	c.(295-297)aCa>aAa	p.T99K		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443000													18	43					5.03518e-11	6.16835e-11	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33199265	33199265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:33199265G>A	ENST00000396033.2	-	14	2185	c.2050C>T	c.(2050-2052)Caa>Taa	p.Q684*	ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q684*|ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q684*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q684*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	684					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	p.Q684E(2)		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)				GGATCAGGTTGGACCGGCTGG	0.428000													10	34					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656331	85656331	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:85656331C>A	ENST00000341460.5	-	2	899	c.850G>T	c.(850-852)Gtt>Ttt	p.V284F		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	284					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.V284I(1)|p.V206I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTCTTTGAAACAGTGATGCTG	0.373000													46	106					7.70917e-36	1.10941e-35	1	1	0
GRID1	2894	broad.mit.edu	37	10	87362282	87362282	+	Silent	SNP	C	C	G	rs3750689		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:87362282C>G	ENST00000327946.7	-	16	2863	c.2778G>C	c.(2776-2778)tcG>tcC	p.S926S	GRID1_ENST00000536331.1_Silent_p.S497S|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	926						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGTGCTGACCGAGAGCTGGG	0.657000										Multiple Myeloma(13;0.14)			17	38					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758003	99758003	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:99758003T>C	ENST00000360039.4	-	4	1401	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.K275E|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.K337E|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	337					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCCCTGCTTATGTCCAGCC	0.597000													42	93					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233226	67233226	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:67233226G>C	ENST00000393997.2	+	1	213	c.156G>C	c.(154-156)tgG>tgC	p.W52C	ELMO3_ENST00000360833.1_Missense_Mutation_p.W52C	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GTCCCAGCTGGACCATGGCGC	0.682000													10	23					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059494	12059494	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12059494G>T	ENST00000482090.1	+	3	1019	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.D219Y			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCACAGTGGGGATGGAACTTA	0.378000													44	80					3.76604e-16	4.96324e-16	1	1	0
TTN	7273	broad.mit.edu	37	2	179599474	179599474	+	Missense_Mutation	SNP	G	G	T	rs74607159	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179599474G>T	ENST00000589042.1	-	51	15401	c.15177C>A	c.(15175-15177)gaC>gaA	p.D5059E	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D3815E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4742E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4742	Ig-like 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)			CACTGCCGACGTCATTCACTG	0.368000													39	103					6.21074e-16	8.15078e-16	1	1	0
HOXA6	3203	broad.mit.edu	37	7	27186927	27186927	+	Splice_Site	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:27186927C>A	ENST00000222728.3	-	1	466	c.442_splice	c.e1+1	p.G148_splice	HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TATGTCTTACCCGCGCAGGAG	0.542000													14	49					1.05317e-09	1.25578e-09	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													4	86					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247744	177247744	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:177247744T>A	ENST00000361539.4	+	7	1370	c.1058T>A	c.(1057-1059)cTg>cAg	p.L353Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		353						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GACCGGTTCCTGAACTCCACA	0.557000													65	334					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	71873200	71873200	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:71873200A>T	ENST00000357731.4	-	7	1233	c.994T>A	c.(994-996)Tgc>Agc	p.C332S	NEGR1_ENST00000434200.1_Missense_Mutation_p.C286S|ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000306821.3_Missense_Mutation_p.C204S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	332					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGTACCAGCAGGAGAAAAGA	0.398000													11	30					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843704	137843704	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:137843704T>A	ENST00000236709.3	-	3	626	c.425A>T	c.(424-426)gAg>gTg	p.E142V		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	142					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CCAGTTTCTCTCTGCGCTGGC	0.597000													40	53					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114943	158114943	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:158114943G>A	ENST00000259056.4	+	1	834	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	117					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATGCAGAATGCCCTGGGAAG	0.532000													26	66					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738761	87738761	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:87738761G>T	ENST00000320005.5	-	3	383	c.336C>A	c.(334-336)aaC>aaA	p.N112K	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	112					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						ATGCTCACCTGTTTGGACCTT	0.453000													74	130					4.37588e-27	6.1696e-27	1	1	0
ARNT2	9915	broad.mit.edu	37	15	80872831	80872831	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:80872831C>T	ENST00000533983.1	+	17	1999	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	ARNT2_ENST00000527771.1_Missense_Mutation_p.R554W|ARNT2_ENST00000303329.4_Missense_Mutation_p.R565W|RP11-379K22.3_ENST00000603875.1_RNA			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	565	Poly-Ser.				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	p.R565R(1)		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)			CCAAATCTCCCGGCAGCTAAA	0.542000													25	81					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43930020	43930020	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:43930020G>C	ENST00000537548.1	-	5	951	c.707C>G	c.(706-708)tCc>tGc	p.S236C	MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.S277C|MATN4_ENST00000342716.4_Missense_Mutation_p.S236C|MATN4_ENST00000372753.1_Missense_Mutation_p.S87C|MATN4_ENST00000372751.4_Missense_Mutation_p.S87C|MATN4_ENST00000372756.1_Missense_Mutation_p.S236C|MATN4_ENST00000360607.5_Intron			O95460	MATN4_HUMAN	matrilin 4	277	EGF-like 1; incomplete.					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)				ACAGAAATAGGAGCCTGGGGA	0.572000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414383	29414383	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:29414383C>A	ENST00000378993.1	+	4	1044	c.371C>A	c.(370-372)aCt>aAt	p.T124N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T124N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	124	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAAACTCCACTTACTGTATG	0.373000													13	18					0.00185496	0.0019005	1	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	74					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372274	76372274	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:76372274G>A	ENST00000407242.2	-	3	605	c.363C>T	c.(361-363)ggC>ggT	p.G121G	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.G121G|LRRC32_ENST00000260061.5_Silent_p.G121G	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	121						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGCAGGGGGCCCAGGCCAC	0.692000													44	48					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456736	156456736	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156456736A>G	ENST00000425854.1	-	7	1601	c.1069T>C	c.(1069-1071)Tgg>Cgg	p.W357R	HAVCR1_ENST00000522693.1_Missense_Mutation_p.W357R|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000339252.3_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					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)			AAAGAGCACCACTGGGTCTTA	0.408000													8	14					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418425	178418425	+	Splice_Site	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:178418425C>A	ENST00000231188.5	-	3	1035	c.857_splice	c.e3+1	p.R286_splice	GRM6_ENST00000517717.1_Splice_Site_p.R286_splice	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	286					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		ACTGTCCCACCTGATGTCATC	0.597000													48	152					2.56175e-15	3.334e-15	1	1	0
SMC6	79677	broad.mit.edu	37	2	17896314	17896314	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:17896314C>A	ENST00000448223.2	-	16	1813	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L	SMC6_ENST00000402989.1_Missense_Mutation_p.R515L|SMC6_ENST00000381272.4_Missense_Mutation_p.R541L|SMC6_ENST00000351948.4_Missense_Mutation_p.R515L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	515	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.R515L(1)		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)					TTCTGGGTCCCGAAGATGAAT	0.388000													31	64					4.34311e-12	5.4159e-12	1	1	0
CERS3	204219	broad.mit.edu	37	15	101042026	101042026	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:101042026C>A	ENST00000284382.4	-	4	452	c.29G>T	c.(28-30)tGg>tTg	p.W10L	CERS3_ENST00000538112.2_Missense_Mutation_p.W10L|CERS3_ENST00000394113.1_Missense_Mutation_p.W10L|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	10						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTTTCCAACCAGAACCATTC	0.373000													13	43					2.32078e-09	2.74115e-09	1	1	0
FLOT2	2319	broad.mit.edu	37	17	27211325	27211325	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:27211325A>G	ENST00000394906.2	-	5	382	c.305T>C	c.(304-306)cTa>cCa	p.L102P	FLOT2_ENST00000394908.4_Missense_Mutation_p.L47P|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000577789.1_Intron			Q14254	FLOT2_HUMAN	flotillin 2	47					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CATAATCTCTAGGGAAATCCT	0.602000													12	43					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119111	55119111	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:55119111C>T	ENST00000414150.2	+	3	790	c.512C>T	c.(511-513)tCt>tTt	p.S171F	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.S171F|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S171F|MROH7_ENST00000339553.5_Missense_Mutation_p.S171F|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		TCCAACCCTTCTAGGCATGAA	0.468000													22	52					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50127886	50127886	+	Splice_Site	SNP	T	T	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:50127886T>G	ENST00000347869.3	+	2	192		c.e2+2		RBM5_ENST00000469838.1_Splice_Site	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGACAAAAGGTAAGTTACTAC	0.358000													23	44					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	105					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19563540	19563540	+	Splice_Site	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:19563540G>T	ENST00000409832.3	+	5	1106	c.1055_splice	c.e5+1	p.V352_splice	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCATCATAATGTGTAAGTGTT	0.338000													54	603					1.38909e-20	1.91115e-20	1	1	0
ARMCX5	64860	broad.mit.edu	37	X	101858708	101858708	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:101858708G>T	ENST00000604957.1	+	1	4261	c.1639G>T	c.(1639-1641)Gtg>Ttg	p.V547L	ARMCX5_ENST00000246174.2_Missense_Mutation_p.V547L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V547L|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V547L|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V547L|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.V547L|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	547							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TGATCCCGAAGTGAGAGATAA	0.378000													45	52					2.68985e-26	3.76699e-26	1	1	0
AKIRIN1	79647	broad.mit.edu	37	1	39463964	39463964	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:39463964C>G	ENST00000432648.3	+	2	500	c.342C>G	c.(340-342)ctC>ctG	p.L114L	AKIRIN1_ENST00000372984.4_Intron|AKIRIN1_ENST00000446189.2_Silent_p.L114L	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	114						nucleus				lung(1)|prostate(1)|skin(1)	3						CCTCAGCACTCACAGCACCTA	0.408000													17	29					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122794336	122794336	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:122794336G>T	ENST00000358808.2	-	19	3688	c.3534C>A	c.(3532-3534)agC>agA	p.S1178R	CLIP1_ENST00000545889.1_Missense_Mutation_p.S764R|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1189R|CLIP1_ENST00000537178.1_Missense_Mutation_p.S1143R|CLIP1_ENST00000361654.4_Missense_Mutation_p.S1067R|CLIP1_ENST00000302528.7_Missense_Mutation_p.S1178R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1189					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)		CTTCGTCCCTGCTTCTCCCCA	0.552000													15	57					1.5739e-10	1.90942e-10	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230636255	230636255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:230636255G>A	ENST00000283943.5	-	38	5741	c.5563C>T	c.(5563-5565)Cag>Tag	p.Q1855*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1903*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1585*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1855					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGAAGTACTGAAGATGACTG	0.408000													17	47					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567462	99567462	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:99567462G>T	ENST00000331335.5	-	5	3528	c.3058C>A	c.(3058-3060)Cca>Aca	p.P1020T	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P1020T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P596T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P780T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P780T|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1020						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGGTTCTGGGGAGCGTCCC	0.512000													41	111					3.3946e-10	4.09445e-10	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178936874	178936874	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:178936874G>T	ENST00000286063.5	-	1	608	c.291C>A	c.(289-291)ccC>ccA	p.P97P	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	97					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGGACTCAAGGGAACCCCAC	0.647000									Primary Pigmented Nodular Adrenocortical Disease, Familial				12	36					4.36969e-10	5.26044e-10	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	45					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263	Poly-Ala.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677000													7	34					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151818	44151818	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:44151818C>T	ENST00000223357.3	+	17	2420	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L	AEBP1_ENST00000450684.2_Silent_p.L280L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	705	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCCCGGATCTCAACTCTGTGC	0.577000													16	79					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112933379	112933379	+	Silent	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:112933379A>G	ENST00000331203.2	+	4	766	c.495A>G	c.(493-495)ggA>ggG	p.G165G	FBLN7_ENST00000409450.3_Silent_p.G165G|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Silent_p.G165G|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	165	EGF-like 1; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTCCTCCAGGAAGGACTGGGA	0.527000													16	62					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32390394	32390394	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:32390394G>A	ENST00000265069.8	-	12	2231	c.2129C>T	c.(2128-2130)cCt>cTt	p.P710L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	710					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGGCCCCTGAGGCTGAGGAGG	0.532000													29	41					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149840154	149840154	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:149840154G>A	ENST00000435030.1	+	15	1958	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.Q298Q|KIF5C_ENST00000414838.2_Silent_p.Q435Q			O60282	KIF5C_HUMAN	kinesin family member 5C	530					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q530H(1)|p.Q433H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACCACACAGAGAGAGCTGA	0.413000													12	22					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367182	248367182	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248367182C>A	ENST00000456743.1	+	1	851	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAACACAGGACAAGATGGTGT	0.488000													44	163					4.4882e-36	6.47377e-36	1	1	0
TLR5	7100	broad.mit.edu	37	1	223284017	223284017	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:223284017G>A	ENST00000540964.1	-	4	2818	c.2357C>T	c.(2356-2358)gCt>gTt	p.A786V	TLR5_ENST00000342210.6_Missense_Mutation_p.A786V			O60602	TLR5_HUMAN	toll-like receptor 5	786	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CATGATGAGAGCACTGTTAAG	0.483000													4	69					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647535	152647535	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152647535G>A	ENST00000367255.5	-	79	15790	c.15189C>T	c.(15187-15189)atC>atT	p.I5063I	SYNE1_ENST00000265368.4_Silent_p.I5063I|SYNE1_ENST00000341594.5_Silent_p.I4810I|SYNE1_ENST00000423061.1_Silent_p.I4992I|SYNE1_ENST00000448038.1_Silent_p.I4992I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5063					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)		CGGTTGGCTTGATGAGTGGGT	0.517000										HNSCC(10;0.0054)			16	30					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57578936	57578936	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:57578936C>G	ENST00000524630.1	+	16	3111	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	CTNND1_ENST00000526938.1_Silent_p.L872L|CTNND1_ENST00000529873.1_Silent_p.L812L|CTNND1_ENST00000532844.1_Silent_p.L818L|CTNND1_ENST00000528232.1_Silent_p.L771L|CTNND1_ENST00000532649.1_Silent_p.L812L|CTNND1_ENST00000526357.1_Silent_p.L812L|CTNND1_ENST00000531014.1_Silent_p.L543L|CTNND1_ENST00000527467.1_Silent_p.L549L|CTNND1_ENST00000428599.2_Silent_p.L866L|CTNND1_ENST00000426142.2_Silent_p.L765L|CTNND1_ENST00000529919.1_Silent_p.L872L|CTNND1_ENST00000529526.1_Silent_p.L812L|CTNND1_ENST00000529986.1_Silent_p.L765L|CTNND1_ENST00000533667.1_Silent_p.L543L|CTNND1_ENST00000361391.6_Silent_p.L866L|CTNND1_ENST00000415361.2_Silent_p.L771L|CTNND1_ENST00000532463.1_Silent_p.L765L|CTNND1_ENST00000530094.1_Silent_p.L765L|CTNND1_ENST00000530748.1_Silent_p.L818L|CTNND1_ENST00000361332.4_Silent_p.L866L|CTNND1_ENST00000361796.4_Silent_p.L866L|CTNND1_ENST00000360682.6_Silent_p.L872L|CTNND1_ENST00000532787.1_Silent_p.L765L|CTNND1_ENST00000358694.6_Silent_p.L866L|CTNND1_ENST00000399039.4_Silent_p.L872L|CTNND1_ENST00000526772.1_Silent_p.L543L|CTNND1_ENST00000399050.4_Silent_p.L872L|CTNND1_ENST00000525902.1_Silent_p.L549L|CTNND1_ENST00000528621.1_Silent_p.L812L|CTNND1_ENST00000534579.1_Silent_p.L812L|CTNND1_ENST00000532245.1_Silent_p.L765L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	872					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTCTCCCTCTCATTGACCGGA	0.438000													48	132					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:95582947C>T	ENST00000393223.3	-	11	1330	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	MTMR2_ENST00000346299.5_Missense_Mutation_p.R295Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGCTTCGCTTTCCACT	0.413000													36	57					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150738275	150738275	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:150738275G>A	ENST00000358849.4	+	13	1666	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	ABCB8_ENST00000542328.1_Missense_Mutation_p.D437N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D525N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.D542N	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	542	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCACCCTTGACCCCTCCTG	0.687000													17	45					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711563	152711563	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152711563C>A	ENST00000367255.5	-	53	8630	c.8029G>T	c.(8029-8031)Ggg>Tgg	p.G2677W	SYNE1_ENST00000265368.4_Missense_Mutation_p.G2677W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2716W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2684W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2684W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2677					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)		TTAACTTCCCCTTCACCTTTC	0.413000										HNSCC(10;0.0054)			14	28					1.49906e-05	1.61517e-05	1	1	0
VIPR2	7434	broad.mit.edu	37	7	158896469	158896469	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:158896469G>C	ENST00000262178.2	-	4	521	c.336C>G	c.(334-336)agC>agG	p.S112R	VIPR2_ENST00000402066.1_Missense_Mutation_p.S253R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	112					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCCGGGTCGCTGTAGCCAC	0.532000													22	66					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215826	111215826	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:111215826C>G	ENST00000369769.2	-	1	1829	c.1606G>C	c.(1606-1608)Ggt>Cgt	p.G536R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	536						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTTCATACCCCCCTCTTCG	0.517000													30	67					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201680428	201680428	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:201680428G>C	ENST00000409600.1	+	4	735	c.280G>C	c.(280-282)Gat>Cat	p.D94H	BZW1_ENST00000409226.1_Missense_Mutation_p.D98H|BZW1_ENST00000452790.2_Missense_Mutation_p.D126H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GATGCGTACAGATGTCTGCGT	0.388000													4	7					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014750	83014750	+	Splice_Site	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:83014750C>T	ENST00000307792.3	-	16	2203		c.e16-1		SEMA3E_ENST00000427262.1_Splice_Site	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E						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)				AAAGCATCCCCTACAACAGGA	0.353000													25	103					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038328	75038328	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:75038328G>C	ENST00000326665.5	-	14	3284	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1022	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCAAAGGAAGGCTTCCTTTG	0.502000													39	105					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79990691	79990691	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79990691C>G	ENST00000373275.4	-	10	1136	c.920G>C	c.(919-921)cGc>cCc	p.R307P		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	307										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						TTTCACCGGGCGATCTCTAAA	0.388000													13	23					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57058234	57058234	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57058234C>T	ENST00000308249.2	+	7	2239	c.2110C>T	c.(2110-2112)Ctg>Ttg	p.L704L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	713					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGCACTAGCCTGTCCTCACT	0.433000													25	59					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380514	147380514	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:147380514G>T	ENST00000240986.4	+	2	485	c.432G>T	c.(430-432)gaG>gaT	p.E144D	GJA8_ENST00000369235.1_Missense_Mutation_p.E144D	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	144					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCGGCTGGAGGGGACCCTGC	0.617000													29	126					1.39806e-14	1.79709e-14	1	1	0
MYO6	4646	broad.mit.edu	37	6	76550395	76550395	+	Missense_Mutation	SNP	A	A	G	rs121912559		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:76550395A>G	ENST00000369981.3	+	8	926	c.647A>G	c.(646-648)gAa>gGa	p.E216G	MYO6_ENST00000369977.3_Missense_Mutation_p.E216G|MYO6_ENST00000369975.1_Missense_Mutation_p.E216G|MYO6_ENST00000369985.4_Missense_Mutation_p.E216G			Q9UM54	MYO6_HUMAN	myosin VI	216	Myosin head-like.		E -> V (in DFNB37; dbSNP:rs28936390).		actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CATTTTAATGAAAAGGTAAGT	0.373000													3	26					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	40					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885787	26885787	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:26885787G>T	ENST00000231021.4	-	11	1990	c.1818C>A	c.(1816-1818)atC>atA	p.I606I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	606	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGGCTGAAAGGATCAGGGCTT	0.502000													9	19					3.86212e-05	4.11872e-05	1	1	0
RNGTT	8732	broad.mit.edu	37	6	89650881	89650881	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:89650881T>C	ENST00000369485.4	-	2	269	c.83A>G	c.(82-84)aAg>aGg	p.K28R	RNGTT_ENST00000369475.3_Missense_Mutation_p.K28R|RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Missense_Mutation_p.K28R	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	28	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAACATTGTCTTCAGAGGTAA	0.333000													3	53					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236191	33236191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:33236191G>T	ENST00000401073.2	+	6	1481	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.E412*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.E423*|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	412	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCACTGCTGAGGCCTCAGA	0.672000													10	78					4.68919e-08	5.35663e-08	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55135910	55135910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:55135910C>A	ENST00000314706.3	+	1	551	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTCTTCACTCATTGGTTCAA	0.428000													44	147					1.23713e-20	1.70582e-20	1	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733197	52733197	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:52733197A>G	ENST00000360540.5	-	7	1194	c.788T>C	c.(787-789)aTg>aCg	p.M263T	PCMTD1_ENST00000544451.1_Missense_Mutation_p.M187T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.M263T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	263						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)				CTTGGCCTGCATCTCATCATT	0.398000													8	108					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711564	152711564	+	Silent	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152711564T>C	ENST00000367255.5	-	53	8629	c.8028A>G	c.(8026-8028)gaA>gaG	p.E2676E	SYNE1_ENST00000265368.4_Silent_p.E2676E|SYNE1_ENST00000341594.5_Silent_p.E2715E|SYNE1_ENST00000423061.1_Silent_p.E2683E|SYNE1_ENST00000448038.1_Silent_p.E2683E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2676					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)		TAACTTCCCCTTCACCTTTCA	0.413000										HNSCC(10;0.0054)			14	28					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410206	159410206	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:159410206C>A	ENST00000423932.3	+	1	695	c.658C>A	c.(658-660)Cct>Act	p.P220T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	220					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCTTGTTGTACCTATGGGTCT	0.453000													70	81					9.5628e-27	1.34222e-26	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72956773	72956773	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:72956773C>G	ENST00000261180.4	+	9	1956	c.1860C>G	c.(1858-1860)atC>atG	p.I620M	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	620					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						AGCATTTTATCTATGATATCA	0.318000													14	55					0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37240912	37240912	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:37240912T>G	ENST00000591344.1	-	5	1188	c.1030A>C	c.(1030-1032)Aaa>Caa	p.K344Q	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GCAAAAGATTTTCCACATTCC	0.388000													4	4					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66458461	66458461	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:66458461C>G	ENST00000404260.3	+	28	4129	c.3821C>G	c.(3820-3822)gCc>gGc	p.A1274G	MAST4_ENST00000261569.7_Missense_Mutation_p.A1077G|MAST4_ENST00000403625.2_Missense_Mutation_p.A1271G|MAST4_ENST00000403666.1_Missense_Mutation_p.A1082G|MAST4_ENST00000405643.1_Missense_Mutation_p.A1092G			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAAAGCTAGCCAAGCAGCCT	0.473000													12	26					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9486800	9486800	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:9486800A>C	ENST00000402466.1	+	13	1730	c.962A>C	c.(961-963)aAt>aCt	p.N321T	SETD5_ENST00000302463.6_Missense_Mutation_p.N321T|SETD5_ENST00000406341.1_Missense_Mutation_p.N419T|SETD5_ENST00000407969.1_Missense_Mutation_p.N438T|SETD5_ENST00000402198.1_Missense_Mutation_p.N419T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	419	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGAATCCTAATGCTACAGAA	0.463000													23	32					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874867	8874867	+	Missense_Mutation	SNP	C	C	G	rs61742970		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:8874867C>G	ENST00000256707.3	-	28	3915	c.3734G>C	c.(3733-3735)cGt>cCt	p.R1245P	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1226P|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1226P|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1146P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1245					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTAACACACGGCCATTTAT	0.333000													5	18					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116245057	116245057	+	Splice_Site	SNP	T	T	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:116245057T>G	ENST00000392952.3	-	4	501	c.177_splice	c.e4+1	p.Q59_splice	ABLIM1_ENST00000277895.5_Intron|ABLIM1_ENST00000369266.3_Splice_Site_p.Q59_splice|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_006720.3	NP_006711.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	347					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AATGCCAACCTGCAGAGACGG	0.522000													4	23					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743729	71743729	+	Silent	SNP	C	C	T	rs146054367	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:71743729C>T	ENST00000395275.2	-	3	574	c.186G>A	c.(184-186)tcG>tcA	p.S62S	CALN1_ENST00000431984.1_Silent_p.S20S|CALN1_ENST00000329008.5_Silent_p.S20S|CALN1_ENST00000405452.2_Silent_p.S20S|CALN1_ENST00000412588.1_Silent_p.S62S|CALN1_ENST00000395276.2_Silent_p.S20S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	20	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CAGCAGAGAGCGATCGGTTGA	0.572000													16	31					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349015	56349015	+	Splice_Site	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:56349015C>T	ENST00000340482.3	-	10	2303		c.e10+1		MPO_ENST00000225275.3_Splice_Site			P05164	PERM_HUMAN	myeloperoxidase						anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCCTCCTCACCGATCACCAT	0.642000													6	33					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76694411	76694411	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:76694411C>A	ENST00000589297.1	-	9	1266	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	CYTH1_ENST00000585509.1_Missense_Mutation_p.G192W|CYTH1_ENST00000446868.3_Missense_Mutation_p.G251W|CYTH1_ENST00000591455.1_Missense_Mutation_p.G251W|CYTH1_ENST00000361101.4_Missense_Mutation_p.G251W|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	251	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.G251W(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGTCATTCCCGTCGTCTTCT	0.413000													42	175					9.84934e-19	1.32595e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179439995	179439995	+	Missense_Mutation	SNP	C	C	G	rs72646892		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179439995C>G	ENST00000589042.1	-	326	71088	c.70864G>C	c.(70864-70866)Gtc>Ctc	p.V23622L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14682L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14557L|TTN_ENST00000342992.6_Missense_Mutation_p.V21054L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14749L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V21981L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21981	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V21052I(1)|p.V14749I(1)|p.V14557I(1)|p.V14682I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACAATGACGGGTCTGCTT	0.478000													10	24					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578254	58578254	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:58578254A>T	ENST00000506786.1	+	5	830	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZNF135_ENST00000313434.5_Missense_Mutation_p.E134D|ZNF135_ENST00000511556.1_Missense_Mutation_p.E146D|ZNF135_ENST00000401053.4_Missense_Mutation_p.E158D|ZNF135_ENST00000439855.2_Missense_Mutation_p.E134D|ZNF135_ENST00000359978.6_Missense_Mutation_p.E146D			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	146					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCACTGGGAATGGAGTTGTG	0.542000													14	25					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698890	79698890	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79698890C>T	ENST00000538312.1	+	5	1186	c.852C>T	c.(850-852)ctC>ctT	p.L284L	FAM46D_ENST00000308293.5_Silent_p.L284L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	284										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATCATACCTCCACAACCATT	0.353000													18	53					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186570890	186570890	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:186570890G>T	ENST00000412955.2	+	2	184	c.43G>T	c.(43-45)Ggt>Tgt	p.G15C	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G15C|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G15C			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	15					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	p.G15C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGCTCTGCCCGGTCATGACCA	0.617000													9	111					1.76689e-08	2.03697e-08	1	1	0
BRE	9577	broad.mit.edu	37	2	28521258	28521258	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:28521258G>T	ENST00000344773.2	+	11	1126	c.988G>T	c.(988-990)Gtt>Ttt	p.V330F	BRE_ENST00000361704.2_Missense_Mutation_p.V330F|BRE_ENST00000379624.1_Missense_Mutation_p.V330F|BRE_ENST00000379632.2_Missense_Mutation_p.V330F|BRE_ENST00000342045.2_Missense_Mutation_p.V330F	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	330	UEV-like 2.				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)					ATTTCAGTCCGTTTATCACTT	0.433000													51	134					1.38814e-16	1.83715e-16	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151341921	151341921	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:151341921G>A	ENST00000426705.2	-	3	441	c.297C>T	c.(295-297)tgC>tgT	p.C99C	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Silent_p.C57C|SELENBP1_ENST00000368868.5_Silent_p.C57C|SELENBP1_ENST00000435071.1_5'UTR	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	57					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GCCTAACCTGGCAATACTGGG	0.597000													7	22					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146068370	146068370	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:146068370G>A	ENST00000528372.1	+	5	2118	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.K530K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.K626K|ZNF7_ENST00000446747.2_Silent_p.K637K			P17097	ZNF7_HUMAN	zinc finger protein 7	626					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCCGTAAAAAGGTTAATACTA	0.433000													19	65					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353896	220353896	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:220353896G>A	ENST00000312358.7	+	35	8402	c.8270G>A	c.(8269-8271)gGg>gAg	p.G2757E	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2757	Fibronectin type-III 2.				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)		GCTGGGCAGGGGCCCTTCAGC	0.592000													39	99					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128640492	128640492	+	Silent	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:128640492A>T	ENST00000393245.1	-	7	1375	c.1002T>A	c.(1000-1002)ccT>ccA	p.P334P	TNPO3_ENST00000471166.1_Silent_p.P334P|TNPO3_ENST00000471234.1_Silent_p.P334P|TNPO3_ENST00000265388.5_Silent_p.P334P|TNPO3_ENST00000482320.1_Silent_p.P268P	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	334					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCTCATATTGAGGATGGCCTG	0.398000													22	50					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741340	18741340	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:18741340A>T	ENST00000513874.1	-	7	758	c.619T>A	c.(619-621)Tgc>Agc	p.C207S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	207	Lys-rich.									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						TACTCCATGCACACCTTCTCA	0.507000													39	133					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	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	0.597000													5	330					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163216037	163216037	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:163216037G>T	ENST00000437150.2	+	7	763	c.602G>T	c.(601-603)gGg>gTg	p.G201V	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.G182V	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	201					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTGCAACAAGGGTCTGCGAAT	0.294000													5	26					0.000602214	0.000624149	1	1	0
WDR78	79819	broad.mit.edu	37	1	67337096	67337096	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:67337096C>G	ENST00000371026.3	-	6	952	c.897G>C	c.(895-897)aaG>aaC	p.K299N	WDR78_ENST00000371023.3_Missense_Mutation_p.K299N|WDR78_ENST00000371022.3_Missense_Mutation_p.K299N|WDR78_ENST00000431318.1_Missense_Mutation_p.K45N	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	299										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATCTTTATTCTTTGGTGCTC	0.303000													23	29					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589479	205589479	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:205589479T>A	ENST00000357992.4	-	3	1034	c.695A>T	c.(694-696)aAa>aTa	p.K232I	ELK4_ENST00000289703.4_Missense_Mutation_p.K232I	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAAGGCAGTTTTGGGGAAAC	0.507000			T	SLC45A3	prostate								32	142					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	rs121913343		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:7577121G>T	ENST00000420246.2	-	8	949	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000359597.4_Missense_Mutation_p.R273S|TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000455263.2_Missense_Mutation_p.R273S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			8	6					0.00307968	0.00313987	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36162888	36162888	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:36162888A>T	ENST00000378660.1	+	11	1659	c.1471A>T	c.(1471-1473)Agg>Tgg	p.R491W	CHDC2_ENST00000313548.4_Missense_Mutation_p.R491W					calponin homology domain containing 2																		cctttggagcaggatgcattt	0.423000													10	15					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749499	61749499	+	Silent	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:61749499A>G	ENST00000423902.2	+	17	4592	c.4113A>G	c.(4111-4113)ttA>ttG	p.L1371L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAGGTTTAGGCATTAACC	0.483000													45	103					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914428	147914428	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:147914428A>T	ENST00000361727.3	+	19	3575	c.3059A>T	c.(3058-3060)cAg>cTg	p.Q1020L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.Q79L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATAACTTTCAGGCACCAGCA	0.498000										HNSCC(39;0.1)			64	100					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139159495	139159495	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:139159495C>A	ENST00000423192.1	+	4	347	c.186C>A	c.(184-186)gtC>gtA	p.V62V	ECT2L_ENST00000367682.2_Silent_p.V62V|ECT2L_ENST00000541398.1_5'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	62					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTAGGTTTGTCCAAGACTGGT	0.343000			"""N, Splice, Mis"""		ETP ALL								10	30					3.86212e-05	4.11872e-05	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885094	88885094	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:88885094G>T	ENST00000319675.3	-	1	1202	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	369										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGGCGAGAAGAGAAGGCCAC	0.587000													19	47					4.35082e-09	5.10996e-09	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36752628	36752628	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:36752628G>T	ENST00000354618.5	+	4	1021	c.797G>T	c.(796-798)cGt>cTt	p.R266L	THRAP3_ENST00000469141.2_Missense_Mutation_p.R266L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	266	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCACCCCGTCCTAGCCCC	0.617000			T	USP6	aneurysmal bone cysts								31	100					2.61193e-14	3.33688e-14	1	1	0
NUP153	9972	broad.mit.edu	37	6	17629417	17629417	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:17629417G>C	ENST00000262077.2	-	18	3012	c.3013C>G	c.(3013-3015)Ctt>Gtt	p.L1005V	NUP153_ENST00000537253.1_Missense_Mutation_p.L1036V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1005					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCTGTCCAAGATTAGATACC	0.378000													12	42					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698683	187698683	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:187698683G>A	ENST00000295131.2	-	6	857	c.818C>T	c.(817-819)aCa>aTa	p.T273I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTCACGAAATGTAAACGTGTG	0.363000													10	38					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196250048	196250048	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:196250048G>T	ENST00000367433.5	-	24	2881	c.2780C>A	c.(2779-2781)aCt>aAt	p.T927N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T951N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.T877N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	951						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						AACATCTCCAGTAGAAGAACA	0.333000													16	37					2.31682e-05	2.48344e-05	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710916	140710916	+	Missense_Mutation	SNP	G	G	T	rs139152286	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140710916G>T	ENST00000517417.1	+	1	665	c.665G>T	c.(664-666)cGt>cTt	p.R222L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222L	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)			GAACCAGTCCGTTCAGGGACC	0.493000													15	48					1.3612e-06	1.51622e-06	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70255076	70255076	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:70255076G>T	ENST00000342771.4	+	19	3195	c.2874G>T	c.(2872-2874)tcG>tcT	p.S958S	AUTS2_ENST00000406775.2_Silent_p.S934S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	958										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACAGCACCTCGAGCCGGGAGG	0.697000													5	14					1.23904e-05	1.34194e-05	1	1	0
ZNF773	374928	broad.mit.edu	37	19	58018684	58018684	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:58018684G>T	ENST00000282292.4	+	4	1361	c.1221G>T	c.(1219-1221)agG>agT	p.R407S	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R406S|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	407					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)		AACATCAGAGGGTTCACACTG	0.418000													45	62					8.86878e-18	1.18125e-17	1	1	0
TLN2	83660	broad.mit.edu	37	15	63092597	63092597	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:63092597G>T	ENST00000561311.1	+	48	6495	c.6265G>T	c.(6265-6267)Gcc>Tcc	p.A2089S	TLN2_ENST00000306829.6_Missense_Mutation_p.A2089S			Q9Y4G6	TLN2_HUMAN	talin 2	2089					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAAGATGTGGCCAAGGCCCT	0.537000													49	116					2.64894e-19	3.58926e-19	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25415731	25415731	+	RNA	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:25415731A>T	ENST00000549301.1	+	0	245				SNHG14_ENST00000553149.1_RNA																							GCCCTCGGCCAGTGTCCGTCT	0.622000													13	23					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110290415	110290415	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:110290415T>C	ENST00000318348.4	-	5	688	c.575A>G	c.(574-576)gAt>gGt	p.D192G	GLTP_ENST00000544393.1_Missense_Mutation_p.D173G	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	192						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GTAGATGACATCGATGGTCGC	0.552000											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	229					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	58					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171062	117171062	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:117171062G>C	ENST00000003084.6	+	4	515	c.383G>C	c.(382-384)tGc>tCc	p.C128S	CFTR_ENST00000454343.1_Missense_Mutation_p.C128S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	128	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATAGGCTTATGCCTTCTCTTT	0.428000									Cystic Fibrosis				11	22					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137726869	137726869	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:137726869G>A	ENST00000314358.5	+	8	1748	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.Q172Q	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	516					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGAGGCACAGAAAGACACTG	0.438000													12	46					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499618	18499618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:18499618C>A	ENST00000433979.1	+	11	1589	c.1473C>A	c.(1471-1473)taC>taA	p.Y491*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Y491*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Y491*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.Y491*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	491					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CATCCATCTACCAGCTAATCA	0.418000													22	77					3.5997e-14	4.58943e-14	1	1	0
MYO6	4646	broad.mit.edu	37	6	76550980	76550980	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:76550980G>A	ENST00000369981.3	+	9	980	c.701G>A	c.(700-702)aGg>aAg	p.R234K	MYO6_ENST00000369977.3_Missense_Mutation_p.R234K|MYO6_ENST00000369975.1_Missense_Mutation_p.R234K|MYO6_ENST00000369985.4_Missense_Mutation_p.R234K			Q9UM54	MYO6_HUMAN	myosin VI	234	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAGAAATCTAGGATCTGTGTT	0.313000													13	41					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361498	99361498	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:99361498C>G	ENST00000354593.2	-	5	659	c.556G>C	c.(556-558)Gat>Cat	p.D186H	CYP3A4_ENST00000336411.2_Missense_Mutation_p.D336H			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	336					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAACTGCATCAATTTCCTCC	0.463000													10	40					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110171292	110171292	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:110171292A>G	ENST00000256578.3	+	12	1957	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	AMPD2_ENST00000358729.4_Missense_Mutation_p.K458E|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.K415E|AMPD2_ENST00000342115.4_Missense_Mutation_p.K452E|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.K414E|AMPD2_ENST00000528667.1_Missense_Mutation_p.K533E	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	533					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAGGAGAGCAAATACCAGAA	0.597000													7	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584473	179584473	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179584473G>C	ENST00000589042.1	-	82	23970	c.23746C>G	c.(23746-23748)Cca>Gca	p.P7916A	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6672A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7599A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7599	Ig-like 61.						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)			GAGAGTTCTGGTGTTCCAGTC	0.418000													15	58					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44954072	44954072	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:44954072C>A	ENST00000290015.2	+	4	1115	c.1062C>A	c.(1060-1062)acC>acA	p.T354T	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	354					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)			TTGTGTACACCTGCAAGCACT	0.637000													11	15					6.40141e-05	6.78051e-05	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033372	30033372	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:30033372G>T	ENST00000328224.6	-	2	2087	c.854C>A	c.(853-855)cCc>cAc	p.P285H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	285						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTCATTCTCGGGGAGGGCCCT	0.512000													21	38					1.00905e-13	1.28387e-13	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78013758	78013758	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:78013758G>A	ENST00000397545.4	+	3	268	c.241G>A	c.(241-243)Gag>Aag	p.E81K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E81K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E81K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E81K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	81					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)			ggaaggggaagaggaggCTGT	0.517000													24	73					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146549	49146549	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:49146549G>A	ENST00000434032.2	-	27	4313	c.4102C>T	c.(4102-4104)Ccc>Tcc	p.P1368S	USP19_ENST00000398892.3_Missense_Mutation_p.P1307S|USP19_ENST00000417901.1_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.P1267S|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Intron|USP19_ENST00000453664.1_Intron	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1267					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)		GGCCCCCAGGGACCCAGGGGC	0.672000													3	3					0	0	1	0	0
LSM1	27257	broad.mit.edu	37	8	38033818	38033818	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:38033818G>A	ENST00000311351.4	-	1	416	c.21C>T	c.(19-21)acC>acT	p.T7T	LSM1_ENST00000520755.1_Silent_p.T7T|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	7					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					TGAGGCTGGCGGTGCCAGGCA	0.587000													9	44					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128358	147128358	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:147128358C>A	ENST00000282928.4	+	1	1188	c.459C>A	c.(457-459)caC>caA	p.H153Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	153					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTGCCGGCCACGCGTCGCCTA	0.711000													11	44					1.58986e-06	1.76777e-06	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884328	228884328	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:228884328T>A	ENST00000392056.3	-	7	1288	c.1242A>T	c.(1240-1242)ttA>ttT	p.L414F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L414F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	414						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)		ATTCCTGGGGTAATGTGGACT	0.443000													30	69					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130290069	130290069	+	Missense_Mutation	SNP	C	C	T	rs111457392	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:130290069C>T	ENST00000358511.6	+	6	2840	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R937W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	937	Nonhelical region.|VWFA 5.				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						AAAGGCCTTGCGGGACAAAGG	0.557000													4	109					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292696	6292696	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:6292696G>C	ENST00000525462.1	+	4	1477	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	CCKBR_ENST00000532715.1_Missense_Mutation_p.E339Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.E423Q			P32239	GASR_HUMAN	cholecystokinin B receptor	423					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCTTCCCGATGAGGACCCTCC	0.652000													24	52					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884330	228884330	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:228884330A>T	ENST00000392056.3	-	7	1286	c.1240T>A	c.(1240-1242)Tta>Ata	p.L414I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L414I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	414						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)		TCCTGGGGTAATGTGGACTGA	0.433000													30	70					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159976254	159976254	+	Splice_Site	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:159976254C>A	ENST00000483754.1	-	18	3091		c.e18+1		IFT80_ENST00000483465.1_3'UTR|IFT80_ENST00000496589.1_3'UTR|IFT80_ENST00000326448.7_3'UTR																							AACATGCTTACCCTTGGTTAA	0.343000													7	28					0.0293803	0.0296169	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077439	32077439	+	RNA	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:32077439G>C	ENST00000354689.6	+	0	54				RP11-1166P10.6_ENST00000566806.1_RNA																							GGGGGTCCCTGAGACTCTCCT	0.577000													53	259					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437448	120437448	+	Silent	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:120437448A>G	ENST00000369400.1	-	1	1670	c.1512T>C	c.(1510-1512)taT>taC	p.Y504Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	504	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGCACTGCATATATCTGGATC	0.453000													18	42					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130308	45130308	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:45130308G>C	ENST00000457685.2	-	6	2879	c.1556C>G	c.(1555-1557)tCa>tGa	p.S519*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.S580*|ZNF334_ENST00000347606.4_Nonsense_Mutation_p.S557*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	557					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)				AGTCAGGGCTGACTTCCTGCA	0.448000													46	89					0	0	1	0	0
CKLF	51192	broad.mit.edu	37	16	66597056	66597056	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:66597056T>C	ENST00000264001.4	+	3	418	c.269T>C	c.(268-270)tTc>tCc	p.F90S	CKLF_ENST00000532838.1_Missense_Mutation_p.F37S|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000351137.4_Missense_Mutation_p.F37S|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.F90S|CKLF_ENST00000362093.4_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAACAGTATTCATGCTCATC	0.393000													14	46					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435139	120435139	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:120435139T>A	ENST00000259526.3	+	5	1068	c.841T>A	c.(841-843)Tgc>Agc	p.C281S	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	281	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTCAAGAACTGCACCAGCCT	0.488000													38	102					0	0	1	0	0
ARL2	402	broad.mit.edu	37	11	64786169	64786169	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64786169C>G	ENST00000246747.4	+	3	398	c.303C>G	c.(301-303)gaC>gaG	p.D101E	ARL2_ENST00000533729.1_Missense_Mutation_p.D101E|ARL2_ENST00000529384.1_Missense_Mutation_p.D101E|SNX15_ENST00000301886.3_3'UTR	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	101					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						GCATGCAGGACTGCCAGCGGG	0.617000													10	34					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139715571	139715571	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139715571C>A	ENST00000303045.6	-	31	2983	c.2537G>T	c.(2536-2538)gGc>gTc	p.G846V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G846V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	846	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGGAGGGCCTGCAGGACC	0.478000										HNSCC(7;0.00092)			11	29					1.08611e-07	1.22948e-07	1	1	0
GBA	2629	broad.mit.edu	37	1	155207167	155207167	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:155207167C>T	ENST00000428024.2	-	6	1205	c.703G>A	c.(703-705)Gac>Aac	p.D235N	GBA_ENST00000327247.5_Missense_Mutation_p.D322N|GBA_ENST00000536770.1_Missense_Mutation_p.D209N|GBA_ENST00000427500.2_Missense_Mutation_p.D273N|GBA_ENST00000368373.3_Missense_Mutation_p.D322N	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	322			S -> P (in GD; type 2; gene conversion; dbSNP:rs1064644).		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)	AAGCGTTGGTCATCCAGCATG	0.572000									Gaucher disease type I				19	42					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382810	33382810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:33382810G>T	ENST00000374512.3	+	12	1388	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	PHF1_ENST00000374516.3_Silent_p.L376L	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	372					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CAGAGCCCCTGAGGAGGAGGC	0.682000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0.00198382	0.0020292	1	1	0
KCND2	3751	broad.mit.edu	37	7	119914918	119914918	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:119914918C>A	ENST00000331113.4	+	1	1197	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	78	Interaction with KCNIP1 (By similarity).				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)					TTTCTACCACCCAGAAACTCA	0.542000													69	168					2.32817e-41	3.37369e-41	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155206460	155206460	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:155206460C>T	ENST00000460012.1	-	20	2795	c.2438G>A	c.(2437-2439)aGc>aAc	p.S813N	PLCH1_ENST00000447496.2_Missense_Mutation_p.S831N|PLCH1_ENST00000414191.1_Missense_Mutation_p.S813N|PLCH1_ENST00000340059.7_Missense_Mutation_p.S831N|PLCH1_ENST00000334686.6_Missense_Mutation_p.S813N|PLCH1_ENST00000494598.1_Missense_Mutation_p.S831N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	831	C2.				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)			AGGCACTAAGCTGCTGAAGGT	0.423000													13	61					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189962026	189962026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:189962026C>A	ENST00000374866.3	-	6	707	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	145					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCCTCGCTCTCCTCTTGGT	0.428000													14	46					1.49906e-05	1.61517e-05	1	1	0
TDRD10	126668	broad.mit.edu	37	1	154516912	154516912	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:154516912A>T	ENST00000368482.4	+	10	1554	c.716A>T	c.(715-717)tAc>tTc	p.Y239F	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.Y239F	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	239	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCAGCCCTACCTGGAGGGC	0.642000													5	20					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120363269	120363269	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:120363269G>C	ENST00000283871.5	-	10	1130	c.671C>G	c.(670-672)cCt>cGt	p.P224R		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	224					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GAAATCACGAGGATTGGCCAA	0.448000													42	71					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46586628	46586628	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:46586628T>C	ENST00000395905.3	-	3	633	c.241A>G	c.(241-243)Agg>Ggg	p.R81G	LRRC2_ENST00000296144.3_Missense_Mutation_p.R81G	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	81										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AGAGTGTTCCTTTCAATCTTG	0.532000													53	91					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94725487	94725487	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:94725487C>T	ENST00000397809.5	-	14	2245	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	CCDC41_ENST00000397807.2_Missense_Mutation_p.A533T|CCDC41_ENST00000339839.5_Missense_Mutation_p.A566T	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	558										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTTTCTGGGCAATTGCAGCT	0.478000													37	120					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668581	71668581	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:71668581A>G	ENST00000268485.3	+	3	1125	c.1081A>G	c.(1081-1083)Ata>Gta	p.I361V	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	361	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CGGAGCAGATATAGGAGCTGG	0.537000													20	54					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386956	121386956	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:121386956C>G	ENST00000393667.3	-	19	9496	c.9386G>C	c.(9385-9387)gGa>gCa	p.G3129A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G3119A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3119					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTGTGAACTCCATTCTTTTC	0.463000													37	29					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36042383	36042383	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:36042383G>A	ENST00000262623.3	-	19	2879	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	951					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)	GAGAGACGGCGCGTCTTGCGG	0.597000													11	27					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953709	56953709	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:56953709T>C	ENST00000504904.3	-	7	1374	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	ZNF667_ENST00000292069.6_Missense_Mutation_p.M219V|ZNF667_ENST00000342634.3_Missense_Mutation_p.M347V|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAATTCTCATATGTAGAATA	0.368000													22	56					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25571722	25571722	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:25571722C>T	ENST00000243189.7	-	3	867	c.591G>A	c.(589-591)ttG>ttA	p.L197L	C1orf63_ENST00000417642.2_Silent_p.L190L|C1orf63_ENST00000431849.2_Silent_p.L197L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	197										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACTAGCTGGCAAGTCAATGT	0.383000													18	33					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995039	140995039	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140995039C>G	ENST00000285879.4	+	4	2135	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	617							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)					GAGTCCTCTTCAGGGGGAGGA	0.572000										HNSCC(15;0.026)			116	188					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129115	6129115	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:6129115C>A	ENST00000316529.3	+	1	202	c.107C>A	c.(106-108)cCc>cAc	p.P36H		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCCCTGCCCCTGACTCTG	0.507000													16	46					4.7546e-09	5.57375e-09	1	1	0
YBX3	8531	broad.mit.edu	37	12	10862544	10862544	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:10862544C>G	ENST00000228251.4	-	6	943	c.743G>C	c.(742-744)cGt>cCt	p.R248P	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3			Y box binding protein 3																		CCGTGAGCGACGGTCAAAGGT	0.592000													6	33					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920132	10920132	+	Silent	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:10920132T>A	ENST00000298232.7	-	18	1435	c.1068A>T	c.(1066-1068)acA>acT	p.T356T	TPTE_ENST00000361285.4_Silent_p.T374T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.T336T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	374	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)		GGGTTTTATCTGTTCGCCTTT	0.378000													8	31					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023599	28023599	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:28023599G>T	ENST00000375790.5	-	5	1056	c.624C>A	c.(622-624)gcC>gcA	p.A208A	MKX_ENST00000419761.1_Silent_p.A208A			Q8IYA7	MKX_HUMAN	mohawk homeobox	208					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGTCCTCACTGGCCCGTGACT	0.502000													36	85					1.08052e-11	1.34207e-11	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033373	30033373	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:30033373G>T	ENST00000328224.6	-	2	2086	c.853C>A	c.(853-855)Ccc>Acc	p.P285T		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	285						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTCTCGGGGAGGGCCCTG	0.517000													22	39					6.33239e-15	8.15653e-15	1	1	0
VCAN	1462	broad.mit.edu	37	5	82843903	82843903	+	Splice_Site	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:82843903G>A	ENST00000265077.3	+	10	10058	c.9493_splice	c.e10+1	p.D3165_splice	VCAN_ENST00000342785.4_Splice_Site_p.D1411_splice|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Splice_Site_p.D2178_splice|VCAN_ENST00000502527.2_Splice_Site_p.D424_splice|VCAN_ENST00000512590.2_Splice_Site_p.D1363_splice	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3165					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)		TTGTGAGCAAGGTAAGAGCTA	0.383000													10	18					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411328	90411328	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:90411328G>A	ENST00000369393.3	-	55	8491	c.8376C>T	c.(8374-8376)ttC>ttT	p.F2792F	MDN1_ENST00000428876.1_Silent_p.F2792F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2792					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTATACCAGCGAAGCCACCAG	0.413000													15	49					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555531	53555531	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:53555531G>A	ENST00000371494.4	-	9	1429	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	434						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACGGAGGTGAGCACGATGA	0.627000													22	79					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56855500	56855500	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:56855500G>T	ENST00000564887.1	+	5	909	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	NUP93_ENST00000542526.1_Missense_Mutation_p.D94Y|NUP93_ENST00000569842.1_Missense_Mutation_p.D217Y|NUP93_ENST00000308159.5_Missense_Mutation_p.D217Y	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	217					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGCTCGATGATAAGGTAGC	0.458000													14	57					2.61681e-11	3.22466e-11	1	1	0
IARS	3376	broad.mit.edu	37	9	95018990	95018990	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:95018990G>T	ENST00000375643.3	-	20	2375	c.2109C>A	c.(2107-2109)ctC>ctA	p.L703L	IARS_ENST00000443024.2_Silent_p.L703L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.L593L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	703					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAAGCCAATGAGAGACTGCA	0.433000													23	51					1.36565e-18	1.83454e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179598042	179598042	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179598042G>A	ENST00000589042.1	-	54	16202	c.15978C>T	c.(15976-15978)caC>caT	p.H5326H	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.H4082H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.H5009H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5009	Ig-like 34.						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)			GGCCACTGTCGTGCAGCTCAG	0.398000													27	45					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183206612	183206612	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:183206612C>G	ENST00000264144.4	+	18	2792	c.2727C>G	c.(2725-2727)ctC>ctG	p.L909L	LAMC2_ENST00000493293.1_Silent_p.L909L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	909	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CACAGCAGCTCTTACAGAATG	0.393000													4	29					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356278	42356278	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:42356278G>T	ENST00000554171.1	+	5	2882	c.450G>T	c.(448-450)gaG>gaT	p.E150D	LRFN5_ENST00000298119.4_Missense_Mutation_p.E150D|LRFN5_ENST00000554120.1_Missense_Mutation_p.E150D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	150						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCGCCCTTGAGGAGCTGGATC	0.393000										HNSCC(30;0.082)			15	44					2.61681e-11	3.22466e-11	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173685	126173685	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:126173685G>C	ENST00000339582.2	-	9	2559	c.1751C>G	c.(1750-1752)gCt>gGt	p.A584G	GRM8_ENST00000444921.2_Missense_Mutation_p.A584G|GRM8_ENST00000358373.3_Missense_Mutation_p.A584G|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	584					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGCACCACAGCCCAGGGAGA	0.512000										HNSCC(24;0.065)			18	35					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087743	47087743	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:47087743C>T	ENST00000374312.1	+	3	1379	c.960C>T	c.(958-960)ttC>ttT	p.F320F	NPY4R_ENST00000395716.1_Silent_p.F320F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCAACCCATTCATCTATGGCT	0.577000													12	57					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76082941	76082941	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:76082941G>A	ENST00000335749.4	+	13	4129	c.3560G>A	c.(3559-3561)cGc>cAc	p.R1187H	TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1190					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGTTGCGCGCACAATCACT	0.592000													51	175					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772664	4772664	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:4772664G>T	ENST00000378191.4	+	2	1115	c.734G>T	c.(733-735)aGg>aTg	p.R245M	AJAP1_ENST00000378190.3_Missense_Mutation_p.R245M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	245					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCCGGAGAAGGATCCCAGGT	0.632000													28	39					4.22769e-11	5.18929e-11	1	1	0
EPDR1	54749	broad.mit.edu	37	7	37989907	37989907	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:37989907A>T	ENST00000199448.4	+	3	963	c.584A>T	c.(583-585)cAg>cTg	p.Q195L	EPDR1_ENST00000425345.1_Missense_Mutation_p.Q134L|EPDR1_ENST00000476620.1_Missense_Mutation_p.Q93L|EPDR1_ENST00000559325.1_Missense_Mutation_p.Q315L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	195					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTTGACATCCAGCTGGGTATT	0.493000													6	17					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96360158	96360158	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:96360158G>A	ENST00000266736.2	+	8	1171	c.1065G>A	c.(1063-1065)atG>atA	p.M355I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	355					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GTGTAAACATGAGAATGTCCA	0.478000													25	62					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53905348	53905348	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:53905348G>A	ENST00000396408.3	+	3	163	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF765_ENST00000594030.1_Missense_Mutation_p.E16K	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGTGGCCATAGAATTCTCTCA	0.443000													42	120					0	0	1	0	0
FTX	100302692	broad.mit.edu	37	X	73507157	73507157	+	RNA	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:73507157T>A	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA																							ataagtgctataaCACTTATC	0.443000													27	99					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60063670	60063670	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:60063670G>A	ENST00000505959.1	-	7	803	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ELOVL7_ENST00000508821.1_Missense_Mutation_p.R106W|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R106W|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R106W			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	106					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTGGGTGACCGTGAATAGTCA	0.363000													12	18					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39695465	39695465	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:39695465T>A	ENST00000395670.3	-	36	5170	c.4751A>T	c.(4750-4752)cAt>cTt	p.H1584L	KIF21A_ENST00000541463.2_Missense_Mutation_p.H1530L|KIF21A_ENST00000361418.5_Missense_Mutation_p.H1583L|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1570L|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1546L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1583					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H1570L(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)				CCAATCCTTATGTGCATTTGG	0.418000													36	93					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712357	247712357	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:247712357G>T	ENST00000366490.3	+	4	384	c.226G>T	c.(226-228)Gct>Tct	p.A76S	GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR					germinal center-associated, signaling and motility-like																		GCCCCTGGCAGCTCGTGGTTG	0.557000													17	13					2.23348e-06	2.47901e-06	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													4	60					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133197632	133197632	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:133197632C>A	ENST00000389110.3	+	8	857	c.820C>A	c.(820-822)Ctg>Atg	p.L274M	P2RX2_ENST00000351222.4_Missense_Mutation_p.L182M|P2RX2_ENST00000343948.4_Missense_Mutation_p.L274M|P2RX2_ENST00000350048.5_Missense_Mutation_p.L250M|P2RX2_ENST00000449132.2_Missense_Mutation_p.L240M|P2RX2_ENST00000348800.5_Missense_Mutation_p.L274M|P2RX2_ENST00000352418.4_Missense_Mutation_p.L202M	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	274					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TGACCTGGACCTGCCTGCATC	0.602000													26	65					6.32553e-13	8.01575e-13	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134163103	134163103	+	Splice_Site	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:134163103G>A	ENST00000389887.5	+	9	3372	c.876_splice	c.e9+1	p.Q292_splice	GLB1L3_ENST00000431683.2_Splice_Site_p.Q292_splice			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	292					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ATAAAGTCCAGGTAAGACATT	0.458000													8	17					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39901344	39901344	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:39901344C>G	ENST00000564288.1	+	70	18676	c.17899C>G	c.(17899-17901)Cag>Gag	p.Q5967E	MACF1_ENST00000317713.7_Missense_Mutation_p.Q3905E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4407E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6004E|MACF1_ENST00000361689.2_Missense_Mutation_p.Q3905E|MACF1_ENST00000539005.1_Missense_Mutation_p.Q3775E|MACF1_ENST00000545844.1_Missense_Mutation_p.Q3905E|MACF1_ENST00000372915.3_Missense_Mutation_p.Q5863E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5979					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			AGAAAAATACCAGAAAGCAGA	0.463000													38	84					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54725882	54725882	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54725882C>T	ENST00000391750.1	-	5	612	c.476G>A	c.(475-477)gGa>gAa	p.G159E	LILRB3_ENST00000407860.2_Missense_Mutation_p.G159E|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G159E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G159E|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G159E|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	159	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTGTTCTCCTTCCTTCAT	0.627000													25	14					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730747	96730747	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:96730747G>T	ENST00000216629.6	+	3	1334	c.728G>T	c.(727-729)cGc>cTc	p.R243L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	243				CGGR -> VRGP (in Ref. 1, 2 and 3).	elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGCGGGGGCCGCAAGGATAGC	0.587000													19	41					6.49762e-13	8.21719e-13	1	1	0
BCL2L12	83596	broad.mit.edu	37	19	50172114	50172114	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:50172114C>T	ENST00000246785.3	+	4	767	c.509C>T	c.(508-510)gCt>gTt	p.A170V	BCL2L12_ENST00000246784.3_Silent_p.S122S|BCL2L12_ENST00000441864.2_Missense_Mutation_p.A169V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	170					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCAGGCCCAGCTACTCCAGAC	0.557000													31	90					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156810320	156810320	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156810320G>T	ENST00000347377.6	+	28	3591	c.3160G>T	c.(3160-3162)Gcc>Tcc	p.A1054S	CYFIP2_ENST00000318218.6_Missense_Mutation_p.A1079S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.A753S|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.A1054S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.A979S|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000522463.1_Missense_Mutation_p.A858S|CYFIP2_ENST00000521420.1_Missense_Mutation_p.A1028S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1079					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)			AGCCAAGTATGCCCCGCTCCA	0.552000													6	21					8.12818e-05	8.56607e-05	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101384101	101384101	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:101384101C>T	ENST00000312938.4	-	4	1910	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTACATTCTCTTTTGAAAGT	0.348000													47	170					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606889	55606889	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:55606889C>T	ENST00000378396.1	+	1	662	c.662C>T	c.(661-663)gCa>gTa	p.A221V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACATCTTATGCATTCATCATT	0.468000													27	77					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102572330	102572330	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:102572330T>A	ENST00000393772.2	-	9	1201	c.775A>T	c.(775-777)Aca>Tca	p.T259S	FBXL13_ENST00000456695.1_Missense_Mutation_p.T259S|FBXL13_ENST00000455112.2_Missense_Mutation_p.T259S|FBXL13_ENST00000436908.1_Missense_Mutation_p.T259S|FBXL13_ENST00000379305.3_Missense_Mutation_p.T259S|FBXL13_ENST00000379308.3_Missense_Mutation_p.T259S|FBXL13_ENST00000379306.3_Missense_Mutation_p.T259S|LRRC17_ENST00000249377.4_Intron|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.T259S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	259										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATACTCACTGTGAATGTTGGG	0.373000													15	46					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223934731	223934731	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:223934731G>T	ENST00000295006.5	+	5	902	c.593G>T	c.(592-594)gGt>gTt	p.G198V	CAPN2_ENST00000433674.2_Missense_Mutation_p.G120V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	198	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane		p.G198V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTATCAGGGGGTGCCACCACT	0.517000													29	108					1.16021e-09	1.38078e-09	1	1	0
CARM1	10498	broad.mit.edu	37	19	11031564	11031564	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:11031564G>C	ENST00000327064.4	+	13	1669	c.1479G>C	c.(1477-1479)tcG>tcC	p.S493S	CARM1_ENST00000344150.4_Silent_p.S493S	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	493					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CATCTCCCTCGGAAAACATGT	0.657000													55	84					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	45					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986364	129986364	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:129986364C>A	ENST00000485477.1	+	2	1167	c.38C>A	c.(37-39)cCa>cAa	p.P13Q	CPA5_ENST00000393213.3_Missense_Mutation_p.P13Q|CPA5_ENST00000466363.2_Missense_Mutation_p.P13Q|CPA5_ENST00000461828.1_Missense_Mutation_p.P13Q|CPA5_ENST00000431780.2_Missense_Mutation_p.P13Q|CPA5_ENST00000474905.1_Missense_Mutation_p.P13Q|CPA5_ENST00000355388.3_Missense_Mutation_p.P13Q			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	13					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CGCCCTGGGCCATCCCCCGTG	0.627000													39	109					2.51966e-14	3.23219e-14	1	1	0
CEP350	9857	broad.mit.edu	37	1	180065045	180065045	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:180065045A>G	ENST00000367607.3	+	35	9317	c.8899A>G	c.(8899-8901)Agt>Ggt	p.S2967G	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2967						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAAGCACTAGTAAAAGGGT	0.348000													18	18					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451293	55451293	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:55451293C>G	ENST00000588756.1	-	6	1380	c.894G>C	c.(892-894)ctG>ctC	p.L298L	NLRP7_ENST00000590030.1_Silent_p.L298L|NLRP7_ENST00000592784.1_Silent_p.L298L|NLRP7_ENST00000328092.5_Silent_p.L298L|NLRP7_ENST00000340844.2_Silent_p.L298L|NLRP7_ENST00000448121.2_Silent_p.L298L|NLRP7_ENST00000446217.1_Silent_p.L326L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	298	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGTGGTGACCAGCAAGGCTG	0.637000													24	28					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625132	74625132	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625132C>T	ENST00000156626.7	-	2	992	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ST6GALNAC1_ENST00000590878.1_5'UTR	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	265					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						TATTTTTCCTCAAAATCCCAC	0.567000													25	99					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55527213	55527213	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:55527213C>T	ENST00000302118.5	+	11	2137	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	616			P -> L.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CATGGAATCCCGGCCCCTCAG	0.632000													7	8					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141764233	141764233	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:141764233G>T	ENST00000475668.2	+	37	4449	c.4395G>T	c.(4393-4395)gaG>gaT	p.E1465D	MGAM_ENST00000549489.2_Missense_Mutation_p.E1465D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1465	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)	TTTGTATGGAGAGTCAGCAGA	0.572000													5	10					0.014758	0.0149249	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153085517	153085517	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:153085517G>C	ENST00000285900.5	+	11	2056	c.1713G>C	c.(1711-1713)gaG>gaC	p.E571D	GRIA1_ENST00000448073.4_Missense_Mutation_p.E581D|GRIA1_ENST00000518142.1_Missense_Mutation_p.E491D|GRIA1_ENST00000518783.1_Missense_Mutation_p.E581D|GRIA1_ENST00000521843.2_Missense_Mutation_p.E502D|GRIA1_ENST00000340592.5_Missense_Mutation_p.E571D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	571					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGAGTTTGAGGAAGGACGGG	0.488000													19	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605073	179605073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179605073G>T	ENST00000589042.1	-	48	13111	c.12887C>A	c.(12886-12888)tCa>tAa	p.S4296*	TTN_ENST00000359218.5_Nonsense_Mutation_p.S4058*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3933*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Nonsense_Mutation_p.S4125*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3979*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3979	Ig-like 23.						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)			TTCTGTGCATGAGTGTTCTGA	0.463000													11	40					4.68919e-08	5.35663e-08	1	1	0
VAV2	7410	broad.mit.edu	37	9	136641200	136641200	+	Silent	SNP	C	C	A	rs150295787		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:136641200C>A	ENST00000371851.1	-	22	2263	c.1938G>T	c.(1936-1938)ccG>ccT	p.P646P	VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371850.3_Silent_p.P656P			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656	SH3 1.				angiogenesis|apoptosis|axon guidance|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	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617000													27	51					5.77227e-19	7.80441e-19	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134351780	134351780	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:134351780T>G	ENST00000357304.4	+	15	4319	c.4264T>G	c.(4264-4266)Tcc>Gcc	p.S1422A	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1422							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGGAGCTTCTCCAGTCAGAG	0.652000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	5					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984630	140984630	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140984630C>T	ENST00000544766.1	+	5	719	c.192C>T	c.(190-192)tcC>tcT	p.S64S	MAGEC3_ENST00000536088.1_Silent_p.S64S|MAGEC3_ENST00000409007.1_Silent_p.S64S|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000298296.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	593										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					cACCCTTGTCCTCACCCTTAC	0.532000													8	12					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770642	53770642	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:53770642C>A	ENST00000311170.4	-	1	330	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	93					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCAATGGACACTCCCCTGCCC	0.498000										HNSCC(26;0.072)			11	19					3.07112e-06	3.40269e-06	1	1	0
SCO2	9997	broad.mit.edu	37	22	50962592	50962592	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962592C>G	ENST00000543927.1	-	2	455	c.249G>C	c.(247-249)gaG>gaC	p.E83D	SCO2_ENST00000395693.3_Missense_Mutation_p.E83D|SCO2_ENST00000535425.1_Missense_Mutation_p.E83D|SCO2_ENST00000252785.3_Missense_Mutation_p.E83D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	83					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)		GCTGCAGCCTCTCCTTCTCAG	0.687000													18	65					0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110737454	110737454	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:110737454G>T	ENST00000226796.6	+	2	398	c.134G>T	c.(133-135)gGc>gTc	p.G45V	GAR1_ENST00000394631.3_Missense_Mutation_p.G45V	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607000													26	34					2.79863e-10	3.38213e-10	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111395598	111395598	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:111395598G>T	ENST00000428084.1	-	42	4661	c.4389C>A	c.(4387-4389)cgC>cgA	p.R1463R	DOCK4_ENST00000437633.1_Silent_p.R1454R|DOCK4_ENST00000494651.2_Silent_p.R337R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1454	DHR-2.				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)				CTTCAAACCAGCGAGAGATGC	0.443000													13	29					9.31168e-06	1.02086e-05	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61288358	61288358	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:61288358G>A	ENST00000217159.1	+	2	757	c.552G>A	c.(550-552)tcG>tcA	p.S184S	SLCO4A1_ENST00000370507.1_Silent_p.S184S	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	184					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GCACGGGGTCGCTGGTGTTCG	0.697000													41	48					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147642	113147642	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:113147642C>G	ENST00000302558.3	-	20	3071	c.2880G>C	c.(2878-2880)gtG>gtC	p.V960V	RGPD8_ENST00000409750.1_Silent_p.V820V	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GGCCAAAAATCACACCACGGC	0.423000													62	210					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204931255	204931255	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:204931255G>A	ENST00000539706.1	+	8	1036	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFASC_ENST00000360049.4_Silent_p.S236S|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Silent_p.S236S|NFASC_ENST00000403080.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000513543.1_Silent_p.S236S|NFASC_ENST00000338586.6_Intron	NM_001160332.1	NP_001153804.1	O94856	NFASC_HUMAN	neurofascin	236					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATAATGACTCGTCCTTAAGAA	0.488000													105	451					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138714492	138714492	+	Splice_Site	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:138714492A>T	ENST00000520602.1	-	5	637		c.e5+1		MCF2_ENST00000414978.1_Splice_Site|MCF2_ENST00000519895.1_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000370576.4_Splice_Site|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370578.4_Splice_Site			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATATACTCTTACTGGTAATTT	0.338000													18	19					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123661	34123661	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:34123661G>T	ENST00000373381.4	-	27	4508	c.4332C>A	c.(4330-4332)ggC>ggA	p.G1444G	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.G317G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1404						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)				CTGTGGAGTCGCCGGCTTCCC	0.582000													32	234					1.88708e-17	2.5081e-17	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47033974	47033974	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:47033974C>A	ENST00000450053.3	+	10	1221	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.Q348K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	348							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)		GCTGTACCTGCAGTCCCGGGC	0.637000													10	8					2.68362e-12	3.35989e-12	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	55					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738435	154738435	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154738435G>T	ENST00000404141.1	-	18	3165	c.3011C>A	c.(3010-3012)tCc>tAc	p.S1004Y	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S1004Y			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1004	BRCT 6.|Interaction with TP53BP1.				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)		TGGCTGCTTGGATAACACCTT	0.473000													7	24					8.12818e-05	8.56607e-05	1	1	0
MTMR2	8898	broad.mit.edu	37	11	95583015	95583015	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:95583015C>G	ENST00000393223.3	-	11	1262	c.600G>C	c.(598-600)tgG>tgC	p.W200C	MTMR2_ENST00000346299.5_Missense_Mutation_p.W272C|MTMR2_ENST00000352297.7_Missense_Mutation_p.W200C|MTMR2_ENST00000409459.1_Missense_Mutation_p.W200C	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	272						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGGATGAATCCATGATAAAA	0.383000													26	45					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17030066	17030066	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:17030066G>A	ENST00000395811.5	+	4	407	c.318G>A	c.(316-318)gtG>gtA	p.V106V	MPRIP_ENST00000444976.1_Silent_p.V106V|MPRIP_ENST00000395804.3_Silent_p.V106V|MPRIP_ENST00000341712.4_Silent_p.V106V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	106	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCACAGATGTGGTGGATGGGG	0.602000													22	32					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69064857	69064857	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:69064857C>A	ENST00000342771.4	+	1	539	c.218C>A	c.(217-219)cCg>cAg	p.P73Q	AUTS2_ENST00000403018.2_Missense_Mutation_p.P73Q|AUTS2_ENST00000406775.2_Missense_Mutation_p.P73Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	73										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCAGACCCCCGCGGAGGAAG	0.647000													14	25					4.3838e-07	4.91803e-07	1	1	0
LYST	1130	broad.mit.edu	37	1	235937202	235937202	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:235937202G>C	ENST00000389794.3	-	19	5898	c.5724C>G	c.(5722-5724)atC>atG	p.I1908M	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I1908M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1908					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)			TAACATCTTGGATTATAGCAT	0.333000													15	50					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691750	31691750	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:31691750C>T	ENST00000375809.3	+	2	407	c.396C>T	c.(394-396)ccC>ccT	p.P132P	C6orf25_ENST00000375805.2_Silent_p.P132P|C6orf25_ENST00000480039.1_Silent_p.P132P|C6orf25_ENST00000375810.4_Silent_p.P132P	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	132						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCAAGGCCCCCGGGCCTACCC	0.637000													36	101					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219868777	219868777	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:219868777G>T	ENST00000341552.5	-	33	5535	c.5452C>A	c.(5452-5454)Cca>Aca	p.P1818T	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1818T|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1818T|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1818	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGGCTGTGGTGTGGGCCCG	0.572000													62	184					3.8128e-34	5.47434e-34	1	1	0
LRCH3	84859	broad.mit.edu	37	3	197592342	197592342	+	Splice_Site	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:197592342G>C	ENST00000438796.2	+	16	1809	c.1765_splice	c.e16+1	p.V589_splice	LRCH3_ENST00000334859.4_Splice_Site_p.V589_splice|LRCH3_ENST00000441090.2_Splice_Site_p.V435_splice|LRCH3_ENST00000425562.2_Splice_Site_p.V589_splice|LRCH3_ENST00000536618.1_Splice_Site_p.V184_splice|LRCH3_ENST00000414675.2_Splice_Site_p.V537_splice			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	589						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAGAAACAGGTAATAGACA	0.299000													7	41					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006226	134006226	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:134006226G>A	ENST00000338492.4	+	3	357	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	65					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-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;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGGCCTGATGGTCCTTCCTGG	0.582000													20	45					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25571721	25571721	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:25571721G>T	ENST00000243189.7	-	3	868	c.592C>A	c.(592-594)Cca>Aca	p.P198T	C1orf63_ENST00000417642.2_Missense_Mutation_p.P191T|C1orf63_ENST00000431849.2_Missense_Mutation_p.P198T	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	198										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACTAGCTGGCAAGTCAATG	0.388000													17	33					0.000422831	0.00044042	1	1	0
C1orf27	54953	broad.mit.edu	37	1	186359971	186359971	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:186359971G>C	ENST00000367470.3	+	7	839	c.603G>C	c.(601-603)gaG>gaC	p.E201D	C1orf27_ENST00000287859.6_Missense_Mutation_p.E201D|C1orf27_ENST00000432021.3_Missense_Mutation_p.E201D|C1orf27_ENST00000419367.3_Missense_Mutation_p.E169D	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	201						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ATACTCTGGAGAAAAATACAA	0.353000													12	14					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86283466	86283466	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:86283466G>A	ENST00000394518.2	+	34	7666	c.7571G>A	c.(7570-7572)aGc>aAc	p.S2524N	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.S2528N|AKAP13_ENST00000394510.2_Missense_Mutation_p.S769N	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2524	Interaction with ESR1.				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						GTTGTCCAGAGCGTTGTTCAT	0.473000													16	34					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097586	11097586	+	RNA	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:11097586C>A	ENST00000470054.1	-	0	283									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)		cagctcaccacaggggactcc	0.532000													5	67					0.00116845	0.00120106	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13830150	13830150	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:13830150C>A	ENST00000265104.4	-	37	6338	c.6234G>T	c.(6232-6234)ggG>ggT	p.G2078G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2078	AAA 1 (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)					TTAAGAAAAGCCCAAATTCAG	0.373000									Kartagener syndrome				8	18					1.06961e-07	1.21741e-07	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363940	79363940	+	RNA	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:79363940C>A	ENST00000444841.1	-	0	398																											GGAGGCCAATCCAGACATTGC	0.522000													5	25					1.23904e-05	1.34194e-05	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249212026	249212026	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:249212026G>T	ENST00000355360.4	+	3	760	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PGBD2_ENST00000539153.1_Missense_Mutation_p.D412Y|PGBD2_ENST00000329291.5_Missense_Mutation_p.D415Y	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	415										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	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;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGCTGGCACGATAGCAGCGT	0.502000													21	63					1.15919e-05	1.2642e-05	1	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46124746	46124746	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46124746T>C	ENST00000355105.3	-	4	1374	c.14A>G	c.(13-15)gAt>gGt	p.D5G	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.D5G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGGAACAAAATCATGCTGCGC	0.433000													24	68					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997362	146997362	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:146997362G>T	ENST00000361727.3	+	9	1994	c.1478G>T	c.(1477-1479)gGc>gTc	p.G493V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	493	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTAAAACTGGCGAGAAGTAC	0.373000										HNSCC(39;0.1)			22	57					4.26978e-12	5.33509e-12	1	1	0
FAT2	2196	broad.mit.edu	37	5	150945353	150945353	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:150945353G>A	ENST00000261800.5	-	1	3152	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1047	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S1047*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGTTCCCGAGGGGCTGTT	0.597000													17	49					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53787436	53787436	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:53787436A>C	ENST00000370888.1	+	14	1697	c.1420A>C	c.(1420-1422)Aca>Cca	p.T474P		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	474						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TTTTTAGAGAACACTTCTAAG	0.403000													50	92					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935222	30935222	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:30935222G>A	ENST00000355537.3	+	2	900	c.753G>A	c.(751-753)gtG>gtA	p.V251V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	251					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)					TTCCCGACGTGGCCCACCCGG	0.736000													3	17					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691817	106691817	+	RNA	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106691817G>T	ENST00000390607.2	-	0	285																											TACTACTAATGGATGAGACCC	0.512000													66	185					7.75977e-34	1.11158e-33	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132397	91132397	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:91132397G>C	ENST00000373094.1	+	2	2003	c.1158G>C	c.(1156-1158)acG>acC	p.T386T	PCDH11X_ENST00000373097.1_Silent_p.T386T|PCDH11X_ENST00000361724.1_Silent_p.T386T|PCDH11X_ENST00000361655.2_Silent_p.T386T|PCDH11X_ENST00000298274.8_Silent_p.T386T|PCDH11X_ENST00000373088.1_Silent_p.T386T|PCDH11X_ENST00000504220.1_Silent_p.T386T|PCDH11X_ENST00000395337.2_Silent_p.T386T|PCDH11X_ENST00000406881.1_Silent_p.T386T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	386	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TAACTGTGACGGATAAGGATG	0.413000													18	34					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200940	23200940	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:23200940A>G	ENST00000300061.2	+	3	709	c.566A>G	c.(565-567)aAg>aGg	p.K189R		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	189					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATCATTCACAAGGCTTCAAAT	0.512000													75	174					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164215	139164215	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139164215C>G	ENST00000395297.1	-	13	2673	c.2503G>C	c.(2503-2505)Gat>Cat	p.D835H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	835										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTCAGCATCTAAAACTATC	0.527000										HNSCC(54;0.14)			22	42					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260117	28260117	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:28260117G>T	ENST00000305242.5	-	8	1154	c.1062C>A	c.(1060-1062)aaC>aaA	p.N354K	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.N46K|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Missense_Mutation_p.N211K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	354							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AATTAATTTGGTTCTTCTCCA	0.413000													24	52					3.6726e-16	4.85031e-16	1	1	0
SPOCK3	50859	broad.mit.edu	37	4	167983653	167983653	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:167983653G>T	ENST00000357154.3	-	4	371	c.234C>A	c.(232-234)ccC>ccA	p.P78P	SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.P78P|SPOCK3_ENST00000512648.1_Silent_p.P75P|SPOCK3_ENST00000506886.1_Silent_p.P78P|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000421836.2_Silent_p.P27P|SPOCK3_ENST00000510741.1_Silent_p.P75P|SPOCK3_ENST00000511531.1_Silent_p.P78P|SPOCK3_ENST00000504953.1_Silent_p.P75P|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Silent_p.P75P|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.P75P	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	78					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCTGATCGAAGGGTTTTCCTG	0.323000													13	23					4.3838e-07	4.91803e-07	1	1	0
UPB1	51733	broad.mit.edu	37	22	24891384	24891384	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:24891384G>C	ENST00000326010.5	+	1	357	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	UPB1_ENST00000413389.2_5'UTR|UPB1_ENST00000382760.2_Missense_Mutation_p.E5Q	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	5					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGCGGGCGCTGAGTGGAAGTC	0.662000													9	129					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36677296	36677296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:36677296A>T	ENST00000543751.1	+	17	1967	c.1822A>T	c.(1822-1824)Aga>Tga	p.R608*	MELK_ENST00000541717.1_Nonsense_Mutation_p.R599*|MELK_ENST00000298048.2_Nonsense_Mutation_p.R640*|MELK_ENST00000538311.1_Nonsense_Mutation_p.R446*|MELK_ENST00000545008.1_Nonsense_Mutation_p.R569*|MELK_ENST00000536987.1_Nonsense_Mutation_p.R509*|MELK_ENST00000536860.1_Nonsense_Mutation_p.R592*|MELK_ENST00000536329.1_Nonsense_Mutation_p.R569*	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	640	KA1.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGTTTACAAAAGATTAGTGGA	0.458000													12	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423759	25423759	+	RNA	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:25423759A>T	ENST00000441592.2	+	0	330																											GTTGTCATCCAGGTGCCCAGC	0.617000													23	44					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90149125	90149125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90149125C>A	ENST00000405460.2	+	80	17325	c.17229C>A	c.(17227-17229)tgC>tgA	p.C5743*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.C1404*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5743					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)		TTGATAGTTGCCCATATTTGT	0.368000													20	44					1.33834e-09	1.58674e-09	1	1	0
LPXN	9404	broad.mit.edu	37	11	58295529	58295529	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:58295529C>A	ENST00000528954.1	-	8	1012	c.893G>T	c.(892-894)tGc>tTc	p.C298F	LPXN_ENST00000528489.1_Missense_Mutation_p.C273F|LPXN_ENST00000395074.2_Missense_Mutation_p.C293F	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	293	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACAAACAAAGCACTCTGGGTG	0.483000													22	63					5.45024e-15	7.03474e-15	1	1	0
PRELP	5549	broad.mit.edu	37	1	203455927	203455927	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:203455927G>A	ENST00000343110.2	+	3	1194	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	356					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)			CGCTACCTGCGGCTGGATGGA	0.597000													20	35					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177296	6177296	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:6177296G>A	ENST00000588304.1	+	8	1091	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ACSBG2_ENST00000586696.1_Silent_p.E265E|ACSBG2_ENST00000252669.5_Silent_p.E265E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Silent_p.E265E|ACSBG2_ENST00000588485.1_Silent_p.E78E			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	265					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAAGCATGAGACGGTGGTTA	0.488000													17	43					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547000													5	193					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981711	176981711	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:176981711C>A	ENST00000249501.4	+	1	405	c.150C>A	c.(148-150)acC>acA	p.T50T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	50						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAATGCAAACCTGTGGACTGC	0.493000													26	86					4.59853e-10	5.5253e-10	1	1	0
NR5A2	2494	broad.mit.edu	37	1	200008821	200008821	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:200008821C>A	ENST00000367362.3	+	2	346	c.100C>A	c.(100-102)Ccc>Acc	p.P34T	NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	34					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCCCCCATCCCCGCCCGCGG	0.642000													25	105					3.28513e-13	4.17138e-13	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106091381	106091381	+	RNA	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106091381C>T	ENST00000390543.2	-	0	512																											GCTCCTCCCGCGGCTTTGTCT	0.597000													82	385					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	61					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752058	247752058	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:247752058C>G	ENST00000320065.1	+	1	397	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L133I(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGCCGTCCTCTCCATTACAC	0.547000													62	202					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518468	106518468	+	RNA	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106518468T>A	ENST00000390598.2	-	0	361																											AGTGAGTTCTTGGCGTTGTCT	0.522000													5	300					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101117745	101117745	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:101117745G>C	ENST00000394095.2	-	6	690	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	SENP7_ENST00000394094.2_Intron|SENP7_ENST00000314261.7_Missense_Mutation_p.Q147E|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.Q180E|SENP7_ENST00000358203.3_Intron	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	213					proteolysis	nucleus	cysteine-type peptidase activity	p.Q213E(1)|p.Q147E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTAGATTTTGATAAGATTCT	0.353000													17	98					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30803173	30803173	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:30803173C>A	ENST00000375749.3	+	3	410	c.348C>A	c.(346-348)caC>caA	p.H116Q	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.H116Q|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	116					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACCCACCCACTGGCCCCCTG	0.587000													58	61					1.80625e-27	2.5524e-27	1	1	0
CRB1	23418	broad.mit.edu	37	1	197391059	197391059	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:197391059C>A	ENST00000367397.1	+	2	1102	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	CRB1_ENST00000544212.1_Missense_Mutation_p.P182T|CRB1_ENST00000535699.1_Missense_Mutation_p.P632T|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.P701T|CRB1_ENST00000367399.2_Missense_Mutation_p.P589T|CRB1_ENST00000538660.1_Missense_Mutation_p.P701T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	701	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGCCACAGGCCCTATGAAGG	0.532000													37	30					3.33393e-15	4.32996e-15	1	1	0
OR4N2	390429	broad.mit.edu	37	14	20295854	20295854	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:20295854G>T	ENST00000568211.1	+	1	247	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	OR4N2_ENST00000315947.1_Missense_Mutation_p.V83L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATGTTGGTGGACTTCCT	0.522000													64	537					2.2129e-31	3.13411e-31	1	1	0
POSTN	10631	broad.mit.edu	37	13	38151925	38151925	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:38151925C>A	ENST00000379747.4	-	16	2090	c.1973G>T	c.(1972-1974)gGt>gTt	p.G658V	POSTN_ENST00000379743.4_Missense_Mutation_p.G658V|POSTN_ENST00000379749.4_Missense_Mutation_p.G658V|POSTN_ENST00000541481.1_Missense_Mutation_p.G658V|POSTN_ENST00000541179.1_Missense_Mutation_p.G658V|POSTN_ENST00000379742.4_Missense_Mutation_p.G658V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	658					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)		GAAGGTGCTACCACGAACAAA	0.318000													7	20					1.26484e-09	1.50245e-09	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113374624	113374624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:113374624G>C	ENST00000316407.4	-	7	6315	c.5905C>G	c.(5905-5907)Caa>Gaa	p.Q1969E	KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q1969E|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1969					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAATTAGCTTGACGTACAGCA	0.512000													8	42					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57298104	57298104	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57298104A>G	ENST00000284116.4	+	1	271	c.134A>G	c.(133-135)cAc>cGc	p.H45R	GDPD1_ENST00000581276.1_Missense_Mutation_p.H45R|GDPD1_ENST00000581140.1_Missense_Mutation_p.H45R	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	45	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CACATCTCTCACCGCGGAGGT	0.572000											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	81					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524457	23524457	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:23524457C>A	ENST00000296682.3	+	10	1147	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	322	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						GTGAACTGTGCCCGGGATGAT	0.537000										HNSCC(3;0.000094)			10	24					0.000673444	0.00069682	1	1	0
VSTM1	284415	broad.mit.edu	37	19	54567009	54567009	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54567009A>T	ENST00000338372.2	-	1	198	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.L8Q|VSTM1_ENST00000425006.2_Missense_Mutation_p.L8Q	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	8						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GAGGCAAAGCAGGGAGAGGAA	0.607000													32	168					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101540676	101540676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:101540676G>A	ENST00000353234.4	-	7	1446	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R467*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R272*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R166*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	467										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGAGCTTTCGGAACCGATTG	0.587000													12	29					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811417	73811417	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:73811417G>A	ENST00000332687.6	-	4	1951	c.1733C>T	c.(1732-1734)aCa>aTa	p.T578I	RLIM_ENST00000349225.2_Missense_Mutation_p.T578I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	578					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTGCCTTCTGTATATTCTGT	0.408000													12	69					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712358	1712358	+	Translation_Start_Site	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:1712358G>T	ENST00000313871.3	+	2	199	c.3G>T	c.(1-3)atG>atT	p.M1I	AKAP17A_ENST00000381261.3_Start_Codon_SNP_p.M1I	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	1					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGGAGGCTATGGCAGCGGCTA	0.627000													33	91					2.48696e-23	3.46734e-23	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48689419	48689419	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48689419C>T	ENST00000544264.1	-	12	6094	c.5814G>A	c.(5812-5814)gtG>gtA	p.V1938V	CELSR3_ENST00000164024.4_Silent_p.V1938V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1938	Laminin G-like 2.				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)		GCTCCGCATTCACTCGGTGGC	0.652000													19	27					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214185035	214185035	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:214185035T>A	ENST00000366958.4	+	4	2613	c.2005T>A	c.(2005-2007)Tac>Aac	p.Y669N	PROX1_ENST00000498508.2_Missense_Mutation_p.Y669N|PROX1_ENST00000435016.1_Missense_Mutation_p.Y669N|PROX1_ENST00000261454.4_Missense_Mutation_p.Y669N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	669	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACATGCACTACAATAAAGC	0.393000													49	82					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046465	151046465	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:151046465T>A	ENST00000325602.5	-	2	398	c.379A>T	c.(379-381)Atg>Ttg	p.M127L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	127						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCCACATACATGGTCTCATAA	0.423000													19	109					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579548	11579548	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:11579548G>A	ENST00000294484.6	+	8	2164	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E676K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	676					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGGAGGTCGAGGAAGAGCC	0.632000													65	111					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84872925	84872925	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:84872925A>G	ENST00000403245.3	-	19	2564	c.2450T>C	c.(2449-2451)gTa>gCa	p.V817A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.V741A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	817					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)		TTCGAAGTCTACTTCAAGAGC	0.328000													10	42					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139737680	139737680	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139737680G>T	ENST00000303045.6	-	24	2589	c.2143C>A	c.(2143-2145)Cct>Act	p.P715T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P715T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	715	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P715S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCCTGGAGGGCCCTGTAGA	0.577000										HNSCC(7;0.00092)			33	65					8.88839e-20	1.21488e-19	1	1	0
INPP5D	3635	broad.mit.edu	37	2	233986855	233986855	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:233986855G>A	ENST00000359570.5	+	3	237	c.237G>A	c.(235-237)ctG>ctA	p.L79L	INPP5D_ENST00000538935.1_Silent_p.L79L|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	79	SH2.				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)		TCACCAAGCTGGACCAGCTCA	0.522000													32	68					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156931516	156931516	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:156931516G>C	ENST00000368194.3	-	14	2231	c.1192C>G	c.(1192-1194)Cga>Gga	p.R398G	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R358G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	358	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAAGCTTCGGGAATCCTTG	0.438000													22	77					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960669	50960669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50960669C>T	ENST00000395701.3	+	14	1316	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	NCAPH2_ENST00000420993.2_Nonsense_Mutation_p.Q408*|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Nonsense_Mutation_p.Q408*			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	408					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		CCGGAAGCTGCAGAGGAGGGA	0.592000													23	36					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982910	92982910	+	Silent	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:92982910G>T	ENST00000523629.1	-	11	1969	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	RUNX1T1_ENST00000518844.1_Silent_p.I478I|RUNX1T1_ENST00000360348.2_Silent_p.I468I|RUNX1T1_ENST00000265814.3_Silent_p.I505I|RUNX1T1_ENST00000436581.2_Silent_p.I516I|RUNX1T1_ENST00000396218.1_Silent_p.I478I|RUNX1T1_ENST00000422361.2_Silent_p.I468I|RUNX1T1_ENST00000520724.1_Silent_p.I468I	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)	505					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I505M(1)|p.I468M(1)|p.I516M(1)		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)			CCTGCTGATTGATAACTGCCA	0.522000													20	41					3.08376e-08	3.54208e-08	1	1	0
EPHA10	284656	broad.mit.edu	37	1	38227327	38227327	+	Silent	SNP	C	C	T	rs143310845		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:38227327C>T	ENST00000373048.4	-	3	599	c.600G>A	c.(598-600)gcG>gcA	p.A200A	EPHA10_ENST00000427468.2_Silent_p.A200A|EPHA10_ENST00000319637.6_Silent_p.A200A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	200						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGAGACAAGCGCCACGCATG	0.672000													28	54					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210904	166210904	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:166210904C>A	ENST00000357398.3	+	17	3412	c.3122C>A	c.(3121-3123)cCg>cAg	p.P1041Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.P1041Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1041					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)	GAAATTAAACCGCTTGAAGAT	0.338000													23	44					2.89027e-11	3.55463e-11	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42178273	42178273	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:42178273G>C	ENST00000520810.1	+	16	1785	c.1599G>C	c.(1597-1599)ctG>ctC	p.L533L	IKBKB_ENST00000379708.3_Silent_p.L310L|IKBKB_ENST00000416505.2_Silent_p.L474L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.L531L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	533					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGAAACTCCTGGTAGAACGGA	0.557000													35	207					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422904	6422904	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:6422904A>C	ENST00000449001.2	+	2	646	c.152A>C	c.(151-153)cAc>cCc	p.H51P	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.H83P|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.H83P|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.H83P	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	83					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGAAGAGGCACGGGGGCCAT	0.647000													27	78					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219692034	219692034	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:219692034G>A	ENST00000439262.2	-	9	958	c.863C>T	c.(862-864)cCg>cTg	p.P288L	PRKAG3_ENST00000529249.1_Missense_Mutation_p.P313L|PRKAG3_ENST00000545803.1_Missense_Mutation_p.P129L|PRKAG3_ENST00000392098.3_Missense_Mutation_p.R298W	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	313	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.P313Q(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGACACCGGGTCAAGAAC	0.582000													9	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489296	179489296	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179489296C>G	ENST00000589042.1	-	242	44935	c.44711G>C	c.(44710-44712)gGc>gCc	p.G14904A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5964A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5839A|TTN_ENST00000342992.6_Missense_Mutation_p.G12336A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G6031A|TTN_ENST00000591111.1_Missense_Mutation_p.G13263A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13263							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)			TCTGACCCTGCCATCAGCAAC	0.393000													20	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90144565	90144565	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90144565C>G	ENST00000405460.2	+	79	17227	c.17131C>G	c.(17131-17133)Cac>Gac	p.H5711D	GPR98_ENST00000425867.2_Missense_Mutation_p.H1372D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5711					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)		GGGATTCAGTCACTTTGCTGA	0.393000													12	14					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109609642	109609642	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:109609642G>T	ENST00000338432.7	+	5	1077	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	ACACB_ENST00000377848.3_Missense_Mutation_p.V320F|ACACB_ENST00000377854.5_Missense_Mutation_p.V320F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	320	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTACGTCCCCGTCCCAGGAGG	0.502000													20	24					8.04996e-18	1.07447e-17	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44470148	44470148	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:44470148T>C	ENST00000251269.5	+	6	822	c.494T>C	c.(493-495)gTg>gCg	p.V165A	ZNF221_ENST00000592350.1_Missense_Mutation_p.V165A|ZNF221_ENST00000587682.1_Missense_Mutation_p.V165A	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	165			V -> M (in dbSNP:rs16976937).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATAAGTCACGTGCAACAGAAA	0.418000													36	82					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205380	81205380	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:81205380G>A	ENST00000552864.1	-	5	768	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	189	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AACTTTTGGGGTGTATCGCAC	0.498000													13	36					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370401	240370401	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:240370401G>C	ENST00000319653.9	+	5	2519	c.2289G>C	c.(2287-2289)ctG>ctC	p.L763L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	763	FH1.|Pro-rich.				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)			TGGATGGGCTGCCAGGGCGTC	0.537000													29	33					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139097	90139097	+	RNA	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:90139097G>T	ENST00000492446.1	+	0	20																											ACCCAGTCAGGACACAGCATG	0.547000													25	195					6.07407e-21	8.41232e-21	1	1	0
SI	6476	broad.mit.edu	37	3	164737430	164737430	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164737430C>A	ENST00000264382.3	-	28	3445	c.3383G>T	c.(3382-3384)tGg>tTg	p.W1128L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1128	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAAGTATTCCAGTTCAGATC	0.438000										HNSCC(35;0.089)			66	64					1.33661e-31	1.89732e-31	1	1	0
MGMT	4255	broad.mit.edu	37	10	131565174	131565174	+	Silent	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:131565174A>T	ENST00000306010.7	+	5	662	c.630A>T	c.(628-630)ccA>ccT	p.P210P		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	210										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TGGGGAAGCCAGGCTTGGGAG	0.652000								Direct reversal of damage					14	31					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736225	12736225	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:12736225T>C	ENST00000380682.1	+	16	3786	c.3280T>C	c.(3280-3282)Tat>Cat	p.Y1094H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1094					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						TCAAAGATGGTATGTGGCCAC	0.493000													56	87					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													6	45					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907848	139907848	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:139907848T>G	ENST00000297183.6	+	29	5441	c.5317T>G	c.(5317-5319)Ttg>Gtg	p.L1773V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1773V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.L156V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1773V	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)			ACTGGAAGACTTGATTCCTAA	0.403000													24	61					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132505773	132505773	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:132505773C>A	ENST00000333577.4	+	24	4814	c.4705C>A	c.(4705-4707)Ccg>Acg	p.P1569T	EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Missense_Mutation_p.P1496T|EP400_ENST00000389561.2_Missense_Mutation_p.P1533T|EP400_ENST00000389562.2_Missense_Mutation_p.P1532T			Q96L91	EP400_HUMAN	E1A binding protein p400	1569					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aggccagcccccgccccagcc	0.751000													15	15					0.00244969	0.00250165	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196965167	196965167	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:196965167G>A	ENST00000367414.5	+	6	934	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	CFHR5_ENST00000256785.4_Missense_Mutation_p.C269Y	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	269	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTGAAAACATGTGGATACATA	0.343000													27	85					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71855025	71855025	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:71855025G>T	ENST00000373545.3	-	16	2132	c.1694C>A	c.(1693-1695)cCc>cAc	p.P565H	PHKA1_ENST00000373539.3_Missense_Mutation_p.P565H|PHKA1_ENST00000339490.3_Missense_Mutation_p.P565H|PHKA1_ENST00000541944.1_Missense_Mutation_p.P565H|PHKA1_ENST00000373542.4_Missense_Mutation_p.P565H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	565					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTGTGAGATGGGGAAGGTGAT	0.483000													16	87					1.67942e-08	1.93969e-08	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20249034	20249034	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:20249034G>T	ENST00000315957.4	+	1	634	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V185F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACAGGTTGTCCGGATTGC	0.458000													59	441					1.33661e-31	1.89732e-31	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACATGATCTAGATTCTGG	0.423000													7	30					5.18039e-06	5.70938e-06	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973758	29973758	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:29973758C>A	ENST00000378993.1	+	11	2585	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L638M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	638	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L638L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACCGGCACCCTGCCTCTTAC	0.502000													6	18					0.248553	0.24895	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263111	248263111	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248263111G>C	ENST00000366478.2	+	3	771	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OR2L13_ENST00000358120.2_Missense_Mutation_p.G145A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			AAGATGATTGGAGGCTCTTGG	0.483000													80	276					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357671	70357671	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:70357671G>T	ENST00000333646.6	+	41	6130	c.5931G>T	c.(5929-5931)caG>caT	p.Q1977H	MED12_ENST00000374102.1_Missense_Mutation_p.Q1973H|MED12_ENST00000374080.3_Missense_Mutation_p.Q1974H|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1974	Gln-rich.|Interaction with CTNNB1 and GLI3.				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)					AGCCTTACCAGAGCACCCACC	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	70					9.55421e-19	1.28899e-18	1	1	0
ZNF233	353355	broad.mit.edu	37	19	44777835	44777835	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:44777835T>A	ENST00000391958.2	+	5	1149	c.1022T>A	c.(1021-1023)cTc>cAc	p.L341H	ZNF233_ENST00000334152.1_Missense_Mutation_p.L323H|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGAGAGAACCTCTACAGATGT	0.512000													12	39					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35624527	35624527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:35624527C>A	ENST00000287272.2	+	14	2234	c.2214C>A	c.(2212-2214)tgC>tgA	p.C738*	UNC5D_ENST00000420357.1_Nonsense_Mutation_p.C740*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.C802*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.C383*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.C812*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.C807*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	807					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCAAAATCTGCATTCGGCAGC	0.552000													25	187					3.08376e-08	3.54208e-08	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35914140	35914140	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:35914140C>T	ENST00000339208.6	-	14	1825	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K	SYNRG_ENST00000394378.2_Missense_Mutation_p.R484K|SYNRG_ENST00000591288.1_Missense_Mutation_p.R401K|SYNRG_ENST00000346661.4_Missense_Mutation_p.R562K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.R483K|SYNRG_ENST00000502449.2_Missense_Mutation_p.R484K|SYNRG_ENST00000345615.4_Missense_Mutation_p.R484K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	562	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTGCAGATCTGAATTCTGC	0.383000													22	58					0	0	1	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573301	106573301	+	RNA	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106573301T>A	ENST00000390601.2	-	0	402																											AGTGAGTTCTTGGCGTTGTCC	0.522000													47	340					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322763	66322763	+	RNA	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:66322763C>T	ENST00000513398.1	+	0	740				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						CTAGGATGACCCCATCGGAAA	0.572000													27	99					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	124					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179103461	179103461	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:179103461G>A	ENST00000471841.1	+	15	1893	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	MFN1_ENST00000280653.7_Silent_p.A478A|MFN1_ENST00000263969.5_Silent_p.A589A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	589					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGGATTGGCGTCCGTTACAT	0.403000													25	189					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12637604	12637604	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12637604T>C	ENST00000339282.7	-	4	1514	c.1318A>G	c.(1318-1320)Atg>Gtg	p.M440V	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						TGCAGTATCATATGTTTTCTA	0.393000													107	138					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301849	42301849	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:42301849T>A	ENST00000357396.3	+	2	634	c.393T>A	c.(391-393)aaT>aaA	p.N131K	CEACAM3_ENST00000344550.4_Missense_Mutation_p.N131K|CEACAM3_ENST00000221999.4_Missense_Mutation_p.N131K|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	131	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCTTGTGAATGAAGAAGCAA	0.453000													88	224					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059706	130059706	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:130059706C>T	ENST00000278742.5	+	5	931	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	171					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)	AGGCCGAGCGCGTCATGGCCG	0.677000													31	71					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957807	61957807	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:61957807C>T	ENST00000456543.2	-	5	564	c.524G>A	c.(523-525)cGc>cAc	p.R175H	GH2_ENST00000423893.2_Silent_p.S176S|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Silent_p.S161S			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CATCGTTGTGCGATTTTGTGT	0.542000													28	95					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675429	100675429	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:100675429C>A	ENST00000306151.4	+	3	796	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	244	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)					TTGAAATCAGCACACCTGTGA	0.493000													84	254					2.22156e-40	3.21177e-40	1	1	0
ABHD3	171586	broad.mit.edu	37	18	19244105	19244105	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19244105G>A	ENST00000289119.2	-	5	781	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Intron	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	214						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGCTGCCAGGAAAGGAGCAG	0.448000													18	24					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561180	154561180	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154561180C>A	ENST00000404039.1	+	9	1332	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	DPP6_ENST00000332007.3_Missense_Mutation_p.L251I|DPP6_ENST00000427557.1_Missense_Mutation_p.L206I|DPP6_ENST00000377770.3_Missense_Mutation_p.L313I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	313					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)			TGGCACGAGACTCGCCTACGC	0.522000													8	31					5.18039e-06	5.70938e-06	1	1	0
LPAL2	80350	broad.mit.edu	37	6	160908392	160908392	+	RNA	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:160908392T>A	ENST00000335388.5	-	0	580					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CCCACCTGACTTTGGGATCCG	0.493000													23	65					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46067982	46067982	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46067982G>C	ENST00000350030.3	+	3	250	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	NASP_ENST00000537798.1_Intron|NASP_ENST00000351223.3_Missense_Mutation_p.V55L|NASP_ENST00000402363.3_Missense_Mutation_p.V57L|NASP_ENST00000372052.4_Missense_Mutation_p.V55L	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	55					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)					GAAACATCTGGTGATGGGGGA	0.348000													22	68					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952081	22952081	+	Nonsense_Mutation	SNP	C	C	A	rs149345966	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:22952081C>A	ENST00000397104.3	-	2	111	c.112G>T	c.(112-114)Gag>Tag	p.E38*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.E17*					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)				CATTGCCACTCCTCCAGAGCG	0.403000													47	72					2.77807e-22	3.8646e-22	1	1	0
RAB3IL1	5866	broad.mit.edu	37	11	61672059	61672059	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:61672059C>A	ENST00000394836.2	-	7	1015	c.858G>T	c.(856-858)ctG>ctT	p.L286L	RAB3IL1_ENST00000301773.5_Silent_p.L260L	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	286							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCACTGTGGGCAGCGTCTGCG	0.637000													4	16					1	1	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784222	140784222	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140784222C>G	ENST00000573521.1	+	1	1703	c.1703C>G	c.(1702-1704)cCc>cGc	p.P568R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCCCTCCCCACTGATGGT	0.552000													55	177					0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19244115	19244115	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19244115G>A	ENST00000289119.2	-	5	771	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Intron	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	211						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GAAAGGAGCAGAAGGGTACAG	0.443000													18	23					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96803335	96803335	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:96803335C>T	ENST00000342380.2	-	2	159	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	54					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						GCAGGAATGTCCTTGTCCCCG	0.587000													53	127					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073398	74073398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:74073398C>T	ENST00000370367.3	+	3	522	c.469C>T	c.(469-471)Cag>Tag	p.Q157*		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGCCGGGACCCAGCGTTCGGT	0.672000													20	55					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582684	158582684	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:158582684A>T	ENST00000368148.3	-	51	7237	c.7057T>A	c.(7057-7059)Tcc>Acc	p.S2353T	SPTA1_ENST00000368147.3_Missense_Mutation_p.S2350T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2353	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)					TCATCACTGGACTTGATGTTT	0.478000													35	40					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88418245	88418245	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:88418245C>T	ENST00000372071.2	+	5	689	c.462C>T	c.(460-462)tgC>tgT	p.C154C	OPN4_ENST00000241891.5_Silent_p.C143C	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	143					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCACAGGCTGCGAGTTCTATG	0.612000													4	38					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957720	143957720	+	Silent	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:143957720C>T	ENST00000292427.4	-	5	923	c.891G>A	c.(889-891)gcG>gcA	p.A297A	CYP11B1_ENST00000517471.1_Silent_p.A297A|CYP11B1_ENST00000377675.3_Silent_p.A368A	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	297					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)	GCGACAGTTCCGCATTCAACA	0.582000									Familial Hyperaldosteronism type I				12	36					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35720872	35720872	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:35720872C>G	ENST00000314888.9	-	11	1496	c.1143G>C	c.(1141-1143)caG>caC	p.Q381H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q381H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	381	FERM.|Interaction with LAYN (By similarity).				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)			CTTCAGTTGTCTGTACTGAGT	0.493000													19	56					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825164	52825164	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:52825164C>A	ENST00000371586.2	-	9	1123	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V329L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	329										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGATCCACGGGCTGCCCC	0.637000													9	48					2.68362e-12	3.35989e-12	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182085	57182085	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:57182085C>T	ENST00000504228.1	+	6	2522	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P799L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P806L			Q6ZU35	K1211_HUMAN	KIAA1211	806										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTTCCTTACCCTCCGCAGAAA	0.592000													22	31					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477736	78477736	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:78477736C>T	ENST00000377211.4	-	3	912	c.760G>A	c.(760-762)Gca>Aca	p.A254T	EDNRB_ENST00000446573.1_Missense_Mutation_p.A164T|EDNRB_ENST00000334286.5_Missense_Mutation_p.A164T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CAGTCCTCTGCCAGCAGCTGC	0.463000													23	21					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80275332	80275332	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:80275332G>C	ENST00000584284.1	-	1	121	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.L14V|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	14					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCAGCGCCAGAAGCAGGGGC	0.692000													3	6					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896195	43896195	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:43896195C>A	ENST00000389420.3	-	4	626	c.627G>T	c.(625-627)aaG>aaT	p.K209N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.K209N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	209						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)		AACTGGTTTCCTTTATTTGAC	0.308000													48	119					3.48956e-15	4.5227e-15	1	1	0
ADCY2	108	broad.mit.edu	37	5	7773198	7773198	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:7773198C>A	ENST00000338316.4	+	18	2457	c.2368C>A	c.(2368-2370)Cag>Aag	p.Q790K	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q610K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	790					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						CGACTACAGCCAGGTCTTATT	0.502000													20	34					0.00152264	0.00156258	1	1	0
SI	6476	broad.mit.edu	37	3	164754255	164754255	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164754255G>A	ENST00000264382.3	-	22	2499	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	813	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTCCTAGAGGATTCTTACGG	0.348000										HNSCC(35;0.089)			19	52					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	61					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39976330	39976330	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:39976330G>T	ENST00000314349.4	+	6	817	c.684G>T	c.(682-684)atG>atT	p.M228I	TIMM50_ENST00000607714.1_Missense_Mutation_p.M125I|TIMM50_ENST00000544017.1_Missense_Mutation_p.M12I|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	125	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCACAGATGATCATCGAGC	0.607000													36	70					9.8876e-21	1.36637e-20	1	1	0
TMPRSS7	344805	broad.mit.edu	37	3	111797614	111797614	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:111797614G>A	ENST00000452346.2	+	17	2253	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q	TMPRSS7_ENST00000419127.1_Silent_p.Q624Q			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	750	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGTTCTGCAGCAAGCGGAGG	0.453000													29	75					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450633	110450633	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:110450633G>T	ENST00000260283.4	-	16	3321	c.3037C>A	c.(3037-3039)Cca>Aca	p.P1013T	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P987T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P977T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P987T|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P556T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P977T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P990T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1013					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTATAGGCTGGGCGGCTGCAA	0.512000													14	33					4.3838e-07	4.91803e-07	1	1	0
FAM110C	642273	broad.mit.edu	37	2	46008	46008	+	Silent	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:46008G>C	ENST00000327669.4	-	1	377	c.378C>G	c.(376-378)ctC>ctG	p.L126L		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	126						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCCTGGAAGAGCTTCTTCA	0.687000													5	22					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24180881	24180881	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:24180881G>C	ENST00000374479.3	-	5	945	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	313					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGTAACATCAGACAATGCCAT	0.368000													18	44					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238267208	238267208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:238267208C>A	ENST00000295550.4	-	21	6879	c.6427G>T	c.(6427-6429)Gga>Tga	p.G2143*	COL6A3_ENST00000472056.1_Nonsense_Mutation_p.G1536*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.G1942*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.G1943*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.G1937*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.G1937*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2143	Collagen-like 2.|Triple-helical 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)		CCTTTCTCTCCTCGAGGTCCT	0.423000													35	85					2.6416e-12	3.32057e-12	1	1	0
AGTR1	185	broad.mit.edu	37	3	148459701	148459701	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:148459701T>A	ENST00000542281.1	+	4	1325	c.879T>A	c.(877-879)ttT>ttA	p.F293L	AGTR1_ENST00000475347.1_Missense_Mutation_p.F293L|AGTR1_ENST00000404754.2_Missense_Mutation_p.F293L|AGTR1_ENST00000402260.1_Missense_Mutation_p.F293L|AGTR1_ENST00000349243.3_Missense_Mutation_p.F293L|AGTR1_ENST00000418473.2_Missense_Mutation_p.F293L|AGTR1_ENST00000461609.1_Missense_Mutation_p.F293L|AGTR1_ENST00000474935.1_Missense_Mutation_p.F293L|AGTR1_ENST00000497524.1_Missense_Mutation_p.F293L	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	293					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TAGCTTATTTTAACAATTGCC	0.363000													66	65					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120831623	120831623	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:120831623C>G	ENST00000378164.2	-	3	560	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	88					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGGTTGGGTCATTATAAATA	0.318000													28	102					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494149	106494149	+	RNA	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:106494149A>G	ENST00000390597.2	-	0	362																											TGTGCACAGTAATATGTGGCT	0.542000													32	66					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721446	72721446	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:72721446C>A	ENST00000428206.1	-	4	344	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	NSUN5_ENST00000252594.6_Missense_Mutation_p.D149Y|NSUN5_ENST00000310326.8_Missense_Mutation_p.D149Y|NSUN5_ENST00000438747.2_Missense_Mutation_p.D149Y	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	149							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAACTACATCATCGGAGCAG	0.532000													10	68					1.08611e-07	1.22948e-07	1	1	0
KCND3	3752	broad.mit.edu	37	1	112524391	112524391	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:112524391C>T	ENST00000369697.1	-	1	1027	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	KCND3_ENST00000315987.2_Missense_Mutation_p.E320K|KCND3_ENST00000302127.4_Missense_Mutation_p.E320K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	320						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAGCCCAGTTCGGAGGCACAG	0.567000													28	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638712	179638712	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179638712C>A	ENST00000589042.1	-	31	7407	c.7183G>T	c.(7183-7185)Gtg>Ttg	p.V2395L	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V2349L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V2349L|TTN_ENST00000342992.6_Missense_Mutation_p.V2395L|TTN_ENST00000360870.5_Missense_Mutation_p.V2395L|TTN_ENST00000342175.6_Missense_Mutation_p.V2349L|TTN_ENST00000591111.1_Missense_Mutation_p.V2395L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2118	Ig-like 13.						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)			CTGGGCTGCACTTCTTGGCCG	0.438000													18	61					3.32936e-07	3.75528e-07	1	1	0
TYMP	1890	broad.mit.edu	37	22	50967726	50967726	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50967726C>G	ENST00000252029.3	-	3	418	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	TYMP_ENST00000395678.3_Missense_Mutation_p.E86Q|TYMP_ENST00000395680.1_Missense_Mutation_p.E86Q|TYMP_ENST00000395681.1_Missense_Mutation_p.E86Q	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	86					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GAGGTCTCCTCCAGATCCATG	0.677000													11	23					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603863	138603863	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:138603863C>T	ENST00000440172.1	-	2	557	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R170Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R120Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	170						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAACCATCCGTGGAGTGGT	0.478000			O	BRAF	pilocytic astrocytoma								46	125					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1343557	1343557	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:1343557G>T	ENST00000389851.4	+	3	791	c.344G>T	c.(343-345)cGg>cTg	p.R115L	UVSSA_ENST00000511216.1_Missense_Mutation_p.R115L|UVSSA_ENST00000507531.1_Missense_Mutation_p.R115L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	115																	GCGACCACCCGGGCCGTGGAA	0.622000													8	31					4.68919e-08	5.35663e-08	1	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709451	128709451	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:128709451T>C	ENST00000392665.2	-	2	832	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	KCNJ1_ENST00000392666.1_Missense_Mutation_p.I230V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.I249V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.I230V|KCNJ1_ENST00000324036.3_Missense_Mutation_p.I230V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	249					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACAAAGTTGATATTGATCTGG	0.413000													34	43					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160908404	160908404	+	RNA	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:160908404T>C	ENST00000335388.5	-	0	568					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGGGATCCGTTGTATAACACC	0.502000													23	68					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949502	27949502	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:27949502C>G	ENST00000379992.2	-	6	1617	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.E390Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	390	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAAGACCTCTCACGGATGGTG	0.507000													21	74					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39721980	39721980	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:39721980G>A	ENST00000280082.3	+	5	1795	c.1596G>A	c.(1594-1596)acG>acA	p.T532T	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGTTACCTACGAGAATTCACG	0.368000													16	42					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236814	33236814	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:33236814G>A	ENST00000401073.2	+	6	2104	c.2034G>A	c.(2032-2034)agG>agA	p.R678R	KIAA1522_ENST00000373480.1_Silent_p.R619R|KIAA1522_ENST00000373481.3_Silent_p.R630R|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	619	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAAGCCCAGGAGCCCTAACC	0.642000													29	256					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137046	64137046	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64137046C>A	ENST00000528057.1	+	13	1624	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.F519L	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	519	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						CCGTGAGCTTCATGCACGAGG	0.721000													11	12					6.40141e-05	6.78051e-05	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152749342	152749342	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152749342C>G	ENST00000367255.5	-	37	5575	c.4974G>C	c.(4972-4974)caG>caC	p.Q1658H	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1728H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1665H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1658					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)		CTGCTCACCTCTGCCAGTGGG	0.507000										HNSCC(10;0.0054)			82	221					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36006993	36006993	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:36006993C>G	ENST00000397326.2	-	2	454	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	MB_ENST00000401702.1_Missense_Mutation_p.E31Q|MB_ENST00000406324.1_Missense_Mutation_p.E86Q|MB_ENST00000397328.1_Missense_Mutation_p.E86Q|MB_ENST00000359787.1_Missense_Mutation_p.E86Q	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	86							heme binding|oxygen transporter activity			lung(1)	1						GGCTTAATCTCTGCCTCATGA	0.587000													10	44					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2604772	2604772	+	Silent	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:2604772A>T	ENST00000155840.5	+	7	1137	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	KCNQ1_ENST00000335475.5_Silent_p.P216P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	343					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGCGCTCCCAGCGGTAGGTG	0.632000													30	90					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	239					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	G	T	rs35653460		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:31812949G>T	ENST00000446923.2	+	8	3033	c.2642G>T	c.(2641-2643)cGg>cTg	p.R881L	ZEB1_ENST00000320985.10_Missense_Mutation_p.R897L|ZEB1_ENST00000361642.5_Missense_Mutation_p.R898L|ZEB1_ENST00000542815.3_Missense_Mutation_p.R830L|ZEB1_ENST00000560721.2_Missense_Mutation_p.R877L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R897Q(1)		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)				AAGAAAATGCGGAAGACAGAA	0.373000													12	57					2.80697e-09	3.30294e-09	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70348920	70348920	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:70348920G>A	ENST00000338508.4	-	24	2180	c.2181C>T	c.(2179-2181)gaC>gaT	p.D727D	SHANK2_ENST00000409530.1_Silent_p.D137D|SHANK2_ENST00000357171.3_Silent_p.D138D|SHANK2_ENST00000409161.1_Silent_p.D137D|SHANK2_ENST00000449833.2_Silent_p.D138D|SHANK2_ENST00000423696.2_Silent_p.D347D|SHANK2_ENST00000449116.2_Silent_p.D138D			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	347					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D138E(1)		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)			TGGCGGTGTCGTCGGGGTCCA	0.657000													10	312					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986867	46986867	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:46986867G>A	ENST00000306503.5	+	2	1370	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	SOCS5_ENST00000394861.2_Missense_Mutation_p.E400K	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	400	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)			AGGGAAACCTGAAGGCACGTT	0.527000													17	56					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40094865	40094865	+	RNA	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:40094865G>T	ENST00000591658.1	+	0	749							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TCATCATGACGGGCATCAACT	0.587000													37	116					4.14481e-20	5.69002e-20	1	1	0
OR6C1	390321	broad.mit.edu	37	12	55714668	55714668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:55714668C>A	ENST00000379668.2	+	1	323	c.285C>A	c.(283-285)tgC>tgA	p.C95*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAATAATTGCATAGTTCAGT	0.393000													12	43					0.010729	0.0108679	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51450781	51450781	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:51450781C>G	ENST00000335891.5	-	13	2653	c.2644G>C	c.(2644-2646)Ggg>Cgg	p.G882R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1331					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)		AAGGATGACCCAAAGGGGCTT	0.428000													8	10					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21419890	21419890	+	Silent	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:21419890G>A	ENST00000313654.9	+	27	3574	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	LAMA3_ENST00000399516.3_Silent_p.P1111P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1111	Domain IV 1 (domain IV B).				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)	TGAAGGCACCGCAGGTAGTGT	0.488000													22	46					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46546392	46546392	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46546392G>A	ENST00000262741.5	-	2	826	c.137C>T	c.(136-138)aCt>aTt	p.T46I	PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000354242.4_Missense_Mutation_p.T46I|PIK3R3_ENST00000423209.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000420542.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000540385.1_Missense_Mutation_p.T92I	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	46					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AACTGCTGAAGTCATTGGCTT	0.393000													73	176					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242644114	242644114	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:242644114G>T	ENST00000313552.6	+	2	110	c.84G>T	c.(82-84)atG>atT	p.M28I	ING5_ENST00000406941.1_Missense_Mutation_p.M28I|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	28					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-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;0.0839)		TCCAGCTGATGCGAGAGCTGG	0.532000													19	78					5.3912e-06	5.93127e-06	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37733514	37733514	+	Missense_Mutation	SNP	G	G	A	rs148144624		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:37733514G>A	ENST00000539465.1	+	11	1633	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R347Q|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R169Q|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R216Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	347	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTTTACTCCGAAACATGAAA	0.453000													25	43					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236736	170236736	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:170236736C>A	ENST00000518525.1	+	10	1461	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	GABRP_ENST00000265294.4_Missense_Mutation_p.Q333K|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000519598.1_Missense_Mutation_p.Q333K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	333						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTCCTTACAGCAGATGGC	0.512000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	68					1.01871e-10	1.23828e-10	1	1	0
MYO16	23026	broad.mit.edu	37	13	109792671	109792671	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:109792671C>A	ENST00000356711.2	+	32	4171	c.4045C>A	c.(4045-4047)Cga>Aga	p.R1349R	MYO16_ENST00000357550.2_Silent_p.R1349R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1349					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTCCTCCTCGAAAGCCCAA	0.701000													19	29					8.00594e-06	8.79249e-06	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36410270	36410270	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:36410270C>T	ENST00000255448.4	-	8	1340	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K|DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	377					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)		AAGCCTTCCTCCGACACTTCT	0.358000													23	76					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373442	5373442	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:5373442C>G	ENST00000380219.1	+	1	705	c.705C>G	c.(703-705)gcC>gcG	p.A235A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAAGGCCCTCAACACAT	0.428000													32	65					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16881168	16881168	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:16881168C>G	ENST00000380087.2	-	3	577	c.217G>C	c.(217-219)Gat>Cat	p.D73H	RBBP7_ENST00000404022.1_Missense_Mutation_p.D73H|RBBP7_ENST00000380084.4_Missense_Mutation_p.D117H			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	73					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTCTGCTCATCAGACGTATGA	0.418000													21	39					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145058724	145058724	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:145058724C>A	ENST00000313028.7	-	5	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	PARP10_ENST00000525773.1_Missense_Mutation_p.M494I|PARP10_ENST00000524918.1_Missense_Mutation_p.M482I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	482						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAAGCCAGTCATATCCGGTC	0.582000													25	49					2.21704e-12	2.79248e-12	1	1	0
RALYL	138046	broad.mit.edu	37	8	85799862	85799862	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:85799862G>C	ENST00000521268.1	+	8	1814	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	RALYL_ENST00000521376.1_Intron|RALYL_ENST00000522455.1_Missense_Mutation_p.E237Q|RALYL_ENST00000518566.1_Missense_Mutation_p.E226Q|RALYL_ENST00000521695.1_Missense_Mutation_p.E237Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E250Q|RALYL_ENST00000523850.1_Missense_Mutation_p.E164Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	237							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAATTGGAAGAGAGTCTAGT	0.483000													35	67					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464364	141464364	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:141464364G>T	ENST00000247879.2	+	1	468	c.406G>T	c.(406-408)Ggt>Tgt	p.G136C	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	136					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)					GATGCTGTTGGGTGCACTGCT	0.483000													47	90					1.00953e-15	1.31934e-15	1	1	0
NCAPH2	29781	broad.mit.edu	37	22	50961569	50961569	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961569C>A	ENST00000395701.3	+	19	1745	c.1651C>A	c.(1651-1653)Cgt>Agt	p.R551S	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R551S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R552S			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	551					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		CGAGGTGTGTCGTTCCATGCT	0.647000													5	24					1.23904e-05	1.34194e-05	1	1	0
APOA2	336	broad.mit.edu	37	1	161192214	161192214	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:161192214G>T	ENST00000367990.3	-	4	341	c.284C>A	c.(283-285)aCa>aAa	p.T95K	AL590714.1_ENST00000594609.1_Missense_Mutation_p.C50F|APOA2_ENST00000481413.1_5'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	95					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGCAGGCTGTGTTCCAAGTTC	0.522000													38	180					4.32679e-17	5.7385e-17	1	1	0
ATRX	546	broad.mit.edu	37	X	76778862	76778862	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:76778862C>A	ENST00000373344.5	-	31	6931	c.6717G>T	c.(6715-6717)gaG>gaT	p.E2239D	ATRX_ENST00000395603.3_Missense_Mutation_p.E2201D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2239					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)	TCTGAAGGAGCTCTGCAAGTA	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						20	108					1.56452e-12	1.97458e-12	1	1	0
B2M	567	broad.mit.edu	37	15	45007752	45007752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:45007752G>T	ENST00000558401.1	+	2	269	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	B2M_ENST00000544417.1_Nonsense_Mutation_p.E67*|B2M_ENST00000559916.1_Nonsense_Mutation_p.E67*|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	67	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGAGAGAATTGAAAAAGTGGA	0.413000													41	54					1.57019e-19	2.13683e-19	1	1	0
NOL4	8715	broad.mit.edu	37	18	31684009	31684009	+	Splice_Site	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:31684009A>G	ENST00000261592.5	-	4	937		c.e4+1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							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						TTTTTATTTTACCTCATCTTG	0.373000													15	40					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167273291	167273291	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:167273291C>T	ENST00000409855.1	-	20	3466	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1114					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGCATGGATTCGTTAAACAGA	0.378000													3	17					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954744	56954744	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:56954744C>A	ENST00000497933.1	+	2	963	c.816C>A	c.(814-816)ggC>ggA	p.G272G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	242						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGTGCCGGGGCCCTCCTGAAG	0.587000													15	80					2.32078e-09	2.74115e-09	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625490	74625490	+	Silent	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625490C>G	ENST00000156626.7	-	2	634	c.435G>C	c.(433-435)ggG>ggC	p.G145G	ST6GALNAC1_ENST00000590878.1_5'UTR	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	145					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						CAGAGGCCATCCCTGCATCTT	0.572000													49	240					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195306283	195306283	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:195306283G>T	ENST00000343267.3	-	2	411	c.50C>A	c.(49-51)gCg>gAg	p.A17E		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	17					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCTCTGCCGCACCGAAGAG	0.567000													67	152					6.20203e-27	8.72466e-27	1	1	0
TERT	7015	broad.mit.edu	37	5	1282690	1282690	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:1282690C>A	ENST00000310581.5	-	3	1680	c.1623G>T	c.(1621-1623)ctG>ctT	p.L541L	TERT_ENST00000296820.5_Silent_p.L541L|TERT_ENST00000334602.6_Silent_p.L541L|TERT_ENST00000508104.2_Silent_p.L541L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	541	RNA-interacting domain 2.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAACTTGGCCAGGATCTCCT	0.547000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	34					6.44725e-10	7.73176e-10	1	1	0
ZNF420	147923	broad.mit.edu	37	19	37618275	37618275	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:37618275C>G	ENST00000337995.3	+	5	597	c.382C>G	c.(382-384)Caa>Gaa	p.Q128E	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.Q128E	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTTATCTCAACATTCAAG	0.373000													15	46					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160645781	160645781	+	Silent	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:160645781C>A	ENST00000366953.3	-	10	1815	c.1557G>T	c.(1555-1557)ggG>ggT	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	0.418000													28	76					2.4375e-19	3.30992e-19	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131365869	131365869	+	Splice_Site	SNP	G	G	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:131365869G>A	ENST00000372739.3	+	28	3737	c.3627_splice	c.e28+1	p.K1209_splice	SPTAN1_ENST00000358161.5_Splice_Site_p.K1209_splice|SPTAN1_ENST00000372731.4_Splice_Site_p.K1209_splice	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1209					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTCCATCAAGGTAAGAAGCA	0.493000													42	108					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709218	22709218	+	RNA	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:22709218G>T	ENST00000314246.8	-	0	1178																											CACTGCTGGGGGCTCCGGGGG	0.517000													13	71					2.4624e-09	2.90294e-09	1	1	0
MAT2B	27430	broad.mit.edu	37	5	162943769	162943769	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:162943769C>T	ENST00000518095.1	+	5	845	c.772C>T	c.(772-774)Cat>Tat	p.H258Y	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Intron|MAT2B_ENST00000280969.5_Intron			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	0					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTCTTTTCCATGCTTGAAC	0.433000													5	8					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443889	100443889	+	Silent	SNP	A	A	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:100443889A>T	ENST00000395996.1	+	22	3318	c.3207A>T	c.(3205-3207)ctA>ctT	p.L1069L	VPS13B_ENST00000357162.2_Silent_p.L1069L|VPS13B_ENST00000358544.2_Silent_p.L1069L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1069					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)			ATCTCACACTACAGGTAAAAT	0.299000													9	22					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27375501	27375501	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:27375501T>C	ENST00000376087.4	-	5	841	c.676A>G	c.(676-678)Ata>Gta	p.I226V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.I226V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	226						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTTAGGTATCCTTTCTTCT	0.264000													15	37					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372293	55372293	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:55372293C>A	ENST00000297316.4	+	2	1187	c.983C>A	c.(982-984)cCg>cAg	p.P328Q		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	328	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			caccaCCCCCCGGGCCCCGGA	0.766000													4	2					0.150653	0.151379	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38622704	38622704	+	Silent	SNP	A	A	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:38622704A>G	ENST00000413689.1	-	17	3139	c.2946T>C	c.(2944-2946)tgT>tgC	p.C982C	SCN5A_ENST00000414099.2_Silent_p.C982C|SCN5A_ENST00000455624.2_Silent_p.C982C|SCN5A_ENST00000451551.2_Silent_p.C982C|SCN5A_ENST00000450102.2_Silent_p.C982C|SCN5A_ENST00000449557.2_Silent_p.C982C|SCN5A_ENST00000443581.1_Silent_p.C982C|SCN5A_ENST00000425664.1_Silent_p.C982C|SCN5A_ENST00000423572.2_Silent_p.C982C|SCN5A_ENST00000333535.4_Silent_p.C982C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	982					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)	GCAGGAGACCACAGCAGAAAT	0.672000													6	9					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942302	134942302	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:134942302C>A	ENST00000607359.1	+	16	3127	c.3127C>A	c.(3127-3129)Cgc>Agc	p.R1043S	GPR123_ENST00000392606.2_Missense_Mutation_p.R227S|GPR123_ENST00000392607.3_Missense_Mutation_p.R324S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	324						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCCCGCCCCGCAAGGACGC	0.726000													30	18					2.08457e-15	2.71862e-15	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212578275	212578275	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:212578275C>A	ENST00000342788.4	-	8	1292	c.982G>T	c.(982-984)Gac>Tac	p.D328Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.D328Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.D328Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	328	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGCAAATGTCAGTGCAAGGT	0.373000										TSP Lung(8;0.080)			9	18					1.12685e-05	1.23108e-05	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60183000	60183000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:60183000G>T	ENST00000300187.6	+	5	836	c.559G>T	c.(559-561)Gag>Tag	p.E187*	MS4A14_ENST00000531783.1_Nonsense_Mutation_p.E220*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.E75*|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Nonsense_Mutation_p.E170*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	187						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCTTCAAGAAGAGTTTTCCAG	0.378000													22	50					1.22574e-08	1.42095e-08	1	1	0
SI	6476	broad.mit.edu	37	3	164737429	164737429	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164737429C>A	ENST00000264382.3	-	28	3446	c.3384G>T	c.(3382-3384)tgG>tgT	p.W1128C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1128	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCAAGTATTCCAGTTCAGAT	0.438000										HNSCC(35;0.089)			67	64					1.02487e-32	1.46477e-32	1	1	0
FAT4	79633	broad.mit.edu	37	4	126411357	126411357	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:126411357G>C	ENST00000394329.3	+	17	13393	c.13380G>C	c.(13378-13380)agG>agC	p.R4460S	FAT4_ENST00000335110.5_Missense_Mutation_p.R2701S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4460	EGF-like 6.				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						ACACGGGAAGGACCTGTGAGA	0.627000													22	52					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86073500	86073501	+	Splice_Site	INS	-	-	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:86073500_86073501insA	ENST00000377332.3	-	5	956_957	c.849_splice	c.e5+1	p.P283_splice	ST3GAL5_ENST00000393808.3_Splice_Site_p.P260_splice|ST3GAL5_ENST00000393805.1_Splice_Site_p.P255_splice	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	283					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TAGTGCTTACCAGGGTTTCCTT	0.332													8	22	---	---	---	---					
IGKV2-24	28923	broad.mit.edu	37	2	89476110	89476111	+	RNA	INS	-	-	C			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:89476110_89476111insC	ENST00000484817.1	-	0	90_91																											CATCACAATATCCCCACTGGAT	0.431													33	118	---	---	---	---					
FASTKD1	79675	broad.mit.edu	37	2	170419780	170419781	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:170419780_170419781insT	ENST00000453153.2	-	4	872_873	c.526_527insA	c.(526-528)agcfs	p.S176fs	FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.S176fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	176					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATATCAGCTATTTTTCCCATT	0.351													9	44	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179584424	179584424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179584424delT	ENST00000589042.1	-	82	24019	c.23795delA	c.(23794-23796)gcfs	p.D7932fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.D6688fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.D7615fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7615	Ig-like 61.						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)			ATGTTTGCTGTCTGCAGACAA	0.403													27	87	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179615464	179615464	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179615464delT	ENST00000360870.5	-	46	11885	c.11663delA	c.(11662-11664)atfs	p.N3888fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9712							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)			TTCTTCAACATTTACAAGTGT	0.353													15	33	---	---	---	---					
SI	6476	broad.mit.edu	37	3	164709191	164709191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164709191delA	ENST00000264382.3	-	44	5120	c.5058delT	c.(5056-5058)cgfs	p.R1686fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTGACCACCACGGACATGTA	0.393										HNSCC(35;0.089)			17	173	---	---	---	---					
VEZF1P1	647319	broad.mit.edu	37	3	192873921	192873923	+	RNA	DEL	ATG	ATG	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:192873921_192873923delATG	ENST00000414895.1	-	0	425																											CAGATGTTACATGATACCTTGTC	0.488													29	76	---	---	---	---					
GK2	2712	broad.mit.edu	37	4	80327926	80327926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:80327926delG	ENST00000358842.3	-	1	1446	c.1429delC	c.(1429-1431)agfs	p.Q477fs		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	477					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GACAAAGCCTGGGGTTCAAGG	0.483													30	67	---	---	---	---					
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													2	4	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30043524	30043525	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:30043524_30043525insCC	ENST00000244360.6	-	1	139_140	c.42_43insGG	c.(40-45)aagagafs	p.R15fs	RNF39_ENST00000376751.3_Frame_Shift_Ins_p.R15fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	15						cytoplasm	zinc ion binding										ATTGCCTCTCTCTTCAACCAGA	0.579													19	75	---	---	---	---					
FRMD1	79981	broad.mit.edu	37	6	168479649	168479649	+	Frame_Shift_Del	DEL	C	C	-	rs146200905		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:168479649delC	ENST00000283309.6	-	1	190	c.126delG	c.(124-126)ccfs	p.P42fs		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	42						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTCCCAGGGTCGGCTCCTGCT	0.667													28	80	---	---	---	---					
CTR9	9646	broad.mit.edu	37	11	10772990	10772991	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:10772990_10772991insG	ENST00000361367.2	+	1	457_458	c.31_32insG	c.(31-33)ggafs	p.G11fs		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	11					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATTCCCCTCCGGGACACTGAC	0.619													10	40	---	---	---	---					
HPS5	11234	broad.mit.edu	37	11	18313218	18313219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:18313218_18313219insA	ENST00000396253.3	-	15	2330_2331	c.1868_1869insT	c.(1867-1869)cgcfs	p.R623fs	HPS5_ENST00000438420.2_Frame_Shift_Ins_p.R623fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.R737fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	737						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCAATTCAGCCAGGTCGTTCCG	0.431									Hermansky-Pudlak syndrome				47	75	---	---	---	---					
OR10W1	81341	broad.mit.edu	37	11	58034850	58034850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:58034850delG	ENST00000395079.2	-	1	882	c.481delC	c.(481-483)agfs	p.Q161fs		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCCTGAGCCTGGCAGAATGGC	0.502													9	18	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19378395	19378395	+	Frame_Shift_Del	DEL	A	A	-	rs143934872	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:19378395delA	ENST00000550708.1	+	1	874	c.802delA	c.(802-804)gcfs	p.S269fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTGTGCTATAGCTCTCTTAT	0.468													15	13	---	---	---	---					
ZNF528	84436	broad.mit.edu	37	19	52909866	52909866	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:52909866delG	ENST00000391788.2	+	6	734	c.211delG	c.(211-213)gcfs	p.G71fs	ZNF528_ENST00000598192.1_Frame_Shift_Del_p.G81fs|ZNF528_ENST00000594530.1_Frame_Shift_Del_p.G81fs|ZNF528_ENST00000360465.3_Frame_Shift_Del_p.G81fs			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	81	KRAB.				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)		CGATCCAGACGGCAGGGAGTG	0.493													30	71	---	---	---	---					
LILRB2	10288	broad.mit.edu	37	19	54783338	54783338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54783338delG	ENST00000391748.1	-	5	647	c.520delC	c.(520-522)gtfs	p.R174fs	LILRB2_ENST00000314446.5_Frame_Shift_Del_p.R174fs|LILRB2_ENST00000434421.1_Frame_Shift_Del_p.R58fs|LILRB2_ENST00000391749.4_Frame_Shift_Del_p.R174fs|LILRB2_ENST00000391746.1_Frame_Shift_Del_p.R174fs	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	174	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGACCCACGGGCATGGGGC	0.582													36	116	---	---	---	---					
ADA	100	broad.mit.edu	37	20	43280234	43280234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:43280234delG	ENST00000372874.4	-	1	149	c.15delC	c.(13-15)ccfs	p.P5fs	ADA_ENST00000537820.1_Frame_Shift_Del_p.P5fs	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	5					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTCGAAGGCGGGCGTCTGGG	0.791									Adenosine Deaminase Deficiency				2	4	---	---	---	---					
PRR5	55615	broad.mit.edu	37	22	45122513	45122513	+	Splice_Site	DEL	G	G	-	rs28450358		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:45122513delG	ENST00000403581.1	+	6	999	c.391_splice	c.e6+1	p.E130_splice	PRR5_ENST00000336985.6_Splice_Site_p.E107_splice|ARHGAP8_ENST00000517296.3_Splice_Site_p.E107_splice|PRR5-ARHGAP8_ENST00000352766.7_Splice_Site_p.E107_splice|PRR5-ARHGAP8_ENST00000361473.5_Splice_Site_p.E108_splice|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Splice_Site_p.E99_splice	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCTTCTATGAGGGTGAGTGTG	0.622													22	49	---	---	---	---					
EFNB1	1947	broad.mit.edu	37	X	68058522	68058523	+	Frame_Shift_Ins	INS	-	-	C	rs148907346		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:68058522_68058523insC	ENST00000204961.4	+	2	971_972	c.191_192insC	c.(190-192)tccfs	p.S64fs		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	64					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						GACATCATCTGCCCCCGAGCAG	0.574													13	52	---	---	---	---					
